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{
"age": 26,
"case_id": "PMC10911782_01",
"case_text": "A 26-year-old Caucasian female was referred to her local renal outpatient service with an acute kidney injury, proteinuria, and haematuria. She was a current smoker with a background of depression and Graves' disease.\nHer thyroid disease had been diagnosed 14 months previously and was initially treated with carbimazole 20 mg BD. She developed a severe urticarial rash after approximately 2 weeks and was changed to PTU. Due to persistent hyperthyroidism and mild Graves' orbitopathy, her PTU dose was uptitrated. Prior to the presentation described in this case report, she had been taking 250 mg BD for approximately 5 months. She was also waitlisted for a total thyroidectomy.\nThe patient was asked to present to the Emergency Department for further assessment. On review, she described a 2-month history of foamy, \"Coca-Cola-coloured\" urine with associated vague lower abdominal pain. She denied any recent illnesses, rash, epistaxis, haemoptysis, chest pain, or arthralgias. A history of thyroid and renal disease was reported by her maternal great grandmother. Her blood pressure was 130/80 mm Hg on admission. Physical examination was unremarkable apart from a diffuse goitre and some mild proptosis.\nHer serum creatinine on presentation was 157 micromol/L. Blood taken 5 months prior had demonstrated normal renal function (serum creatinine 77 micromol/L and estimated glomerular filtration rate >90 mL/min/1.73 m2). She had moderate proteinuria (spot protein creatinine ratio 234 mg/mmol) and albuminuria (albumin:creatinine ratio/ACR 158 mg/mmol). Urine microscopy confirmed haematuria. On review of her previous investigations, microscopic haematuria was detected on a urine sample taken 9 months prior to presentation in the absence of infection. An ultrasound of the renal tract was normal.\nA renal biopsy was performed shortly following admission (Fig. 1). This demonstrated necrotising glomerulonephritis with crescents in 19% of the viable glomeruli. Immunoperoxidase staining was strongly positive for mesangial IgA (3+). Mild mesangial hypercellularity was seen throughout the sample. Her serology subsequently demonstrated positive titres for p-ANCA and MPO-ANCA (199 U/mL). c-ANCA, PR3-ANCA, ANA, and anti-GBM titres were negative.\nIn view of the high MPO-ANCA titre, she was managed as presumed AAV with high-dose intravenous methylprednisolone (500 mg daily) for 3 days. Her creatinine improved to 144 micromol/L, and she was discharged on oral glucocorticoids with a weaning plan as per the PEXIVAS protocol. Four doses of weekly induction intravenous Rituximab (750 mg) were arranged as an outpatient. Counselling regarding smoking cessation was provided.\nThe management of her thyroid disease was complex given the PTU-induced vasculitis, previous reaction to carbimazole, the risks of a thyroidectomy on immunosuppression, and possible worsening of her eye disease with RAI. Her thyroid function tests at the time of this admission demonstrated normal free T3 (4.9 pmol/L) and T4 (12.0 pmol/L) but ongoing suppression of her TSH (0.30 mIU/L). Her thyroid stimulating immunoglobulin titre was 3.65 IU/L (normal <0.55). Thyroid peroxidase antibodies were also detectable. She was assessed by an ophthalmologist who advised that her Graves' orbitopathy was only mild, and hence she received radioactive iodine (320 MBq) shortly following discharge. Her PTU was subsequently ceased.\nApproximately 12 months post this index admission, the patient remained well. She continued 6 monthly maintenance doses of rituximab (500 mg with a further 500 mg 2 weeks later). Marked B cell depletion post-rituximab was confirmed with flow cytometry. Her renal function improved (serum creatinine 89 micromol/L, estimated glomerular filtration rate 77 mL/min/1.73 m2, Fig. 2). She did continue to have mild microscopic haematuria, proteinuria (protein creatinine ratio 66 mg/mmol), and a persistent elevation of her MPO-ANCA titre (168 U/mL). Perindopril 2.5 mg daily was commenced in the outpatient setting. Her thyroid function was approaching normal (TSH 0.33 mIU/L with normal T3 and T4). Her thyroid stimulating immunoglobulin titre had also improved to 0.32 IU/L when it was rechecked 4 months following her initial presentation. She did not require any further anti-thyroid treatment, and her eye disease remained stable. Six monthly maintenance Rituximab will be continued for 2 years. The CARE Checklist has been completed by the authors for this case report and is attached as online supplementary material (for all online suppl. material, see https://doi.org/10.1159/000536618).",
"gender": "Female"
}
] |
PMC10911782
|
[
{
"age": 20,
"case_id": "PMC10749554_01",
"case_text": "A 20-year-old female patient presented with progressive abdominal distension associated with abdominal cramp, failure to pass flatus and feces as well as frequent vomiting of ingested and bilious matter of one-day duration. The day before, she gave birth through C/S for an indication of severe fetal bradycardia. She also had preeclampsia without severity signs and an adult onset malnutrition with a body mass index (BMI) of 16.5Kg/M2. She had no history of previous abdominal surgery. She denied any similar complaint in the past or previous history of bowel habit change or constipation with passage of a blood mixed stool. She did not have any known chronic medical illness.\nOn physical examination she was acutely sick looking and in pain. Her blood pressure was 90/70mmHg, pulse rate was in the range of 116-120 beats per minute, respiratory rate was in the range of 22-24 breaths per minute. She did not have an objective fever record. Her abdomen was grossly distended and symmetric with visible peristaltic bowel movements. There was diffuse direct tenderness all over her abdomen, more at the right lower quadrant. There was a positive sign of intraperitoneal fluid collection with shifting dullness. There was a well approximated suprapubic surgical wound with clean dressing. Her digital rectal examination finding was unremarkable. She had a 3cm long, linear, vertically oriented, superficial wound on her left labia-majora which was initially thought to be an iodine burn to the skin, by the obstetrics team.\nShe was catheterized and resuscitated with two bags of normal saline and produced 200mL of urine over an hour. A nasogastric tube (NGT) was inserted but with no significant output. She was investigated with Complete blood count (CBC) and plain abdominal radiograph. Her white blood cell count was 1780 cells/microL with neutrophil predominance of 88%, hemoglobin of 12.7mg/dl and platelet count of 78 x 103/ microL. Her renal function test was normal and her liver enzymes were slightly elevated above the normal range but was not significant. Her plain abdominal radiograph (Figure 1) shows centrally located multiple-air fluid levels with dilated peripherally located large bowel loop and whitening of the pelvic space indicating a fluid collection. Abdominal computed tomography (CT) scan was not requested because we work in a resource limited setting and for patients with bowel obstruction, we request CT scan when there is possibility of alternative diagnosis or when tumor obstruction is suspected. \nAfter obtaining informed written consent, she was explored under general anesthesia with a diagnosis of acute abdomen secondary to mixed bowel obstruction secondary to small bowel volvulus. The intra-operative finding was a distal ileum encircling the cecum and proximal ascending colon, both of which were mobile and not attached to the right posterolateral abdominal wall. Both the ileum and cecum as well as ascending colon were viable (Figure 2). The tip of the appendix was entangled with the ileal knot, and it was gangrenous. The proximal small bowel and distal large bowel were grossly distended otherwise in their normal location. There was about four-liter of serous intraperitoneal fluid. \nIntra-operatively, the patient was persistently hypotensive (80/50 mmHg) since after the induction of anesthesia and was started on vasopressor support. Considering the patient's instability and viability of the bowels involved in the knot, right hemicolectomy was differed. Proximal and distal decompression of the distended small and large bowels was performed respectively. Cecum and ascending colon were fixed to the right posterolateral abdominal wall using interrupted sero-muscular stitches with non-absorbable suture (Silk 2-0).\nPost-procedure, she was extubated and kept nothing by mouth (NPO) for 24 hours and put on maintenance fluid with replacement of her loss. She was persistently hypotensive despite fluid resuscitation and vasopressor support and hence she was put on double antibiotics with Ceftriaxone 1gm, IV, BID and Metronidazole 500mg, IV, TID with consideration of septic shock of genitourinary focus. She gradually deteriorated and up on re-evaluation on her first post-operative day, the superficial wound on her vulva has expanded upwards to the suprapubic area with clinical signs of Fournier's gangrene. Therefore, we revised her antibiotics to Meropenem 1gm, IV, BID, Vancomycin 1gm, IV, BID and Metronidazole 500mg, IV, TID. After informed written consent was obtained, she was taken back to the operation theatre for radical debridement of the Fournier's gangrene and subsequently transferred surgical intensive care unit (ICU) intubated due to persistent septic shock and delayed awakening from anesthesia. Unfortunately, she passed away with multi-organ failure due to refractory septic shock on her second post-operative day after the initial exploration.",
"gender": "Female"
}
] |
PMC10749554
|
[
{
"age": 65,
"case_id": "PMC10894014_01",
"case_text": "A 65-year-old female denied significant chronic degenerative diseases, protruding solely with a body mass index (BMI) of 32.1 and a familiar history of thromboembolism events (PE and DVT).\nHer first episode began in August 2021. After an emotional event (laboral discussion), she developed an acute onset of chest pain with irradiation to the left arm. She went to the Emergency Department (ED), where the ECG showed ST-segment elevation in anterior leads and augmented vector left (aVL) (Figure 1) with cardiac biomarker elevation (troponin I 24 ng/ml). Fibrinolysis was performed with tenecteplase, without reperfusion evidence. Transthoracic echocardiography (TTE) was performed with evidence of apical, anteroseptal, and anterolateral akinesia with a left ventricular ejection fraction (LVEF) of 67%. Percutaneous transluminal coronary angioplasty (PTCA) demonstrated angiographically normal coronary arteries, and left ventriculography (LVG) showed apical dyskinesia with the octopus pot (Figure 2) and elevation of the end-diastolic pressure of the left ventricle. The patient was discharged after one week with treatment-based beta-blockers (bisoprolol 1.25 mg QD).\nIn November 2021, acute onset of dyspnea New York Heart Association (NYHA) functional class IV, tachycardia, tachypnea, hypotension, and syncope were presented, causing another arrival to the ED with elevated biomarkers (dimer D 1598 ng/ml, troponin I 7.8 ng/ml, and BNP 281 pg/ml), due to deterioration of clinical conditions. Supplemental oxygen requirement and double inotropic medication (dobutamine and norepinephrine) were initiated, and a computed tomography pulmonary angiography (CTPA) was taken with evidence of PE at the level of the bifurcation of the pulmonary artery. Fibrinolysis was performed with alteplase, and she was admitted to the Intensive Care Unit, where she was treated to recovery. The patient was discharged with symptomatic improvement after one week of admission, with an NYHA class II, and outpatient follow-up posthospitalization was scheduled with a direct oral anticoagulant (DOAC) as rivaroxaban 20 mg QD.\nIn the follow-up, diagnostic laboratories were requested for a diagnostic approach of hematological and rheumatological etiology, which were found to be within normal parameters (Table 1). So, after one year, due to their adequate evolution, and once these pathologies were ruled out, it was decided that anticoagulant management would be withdrawn.\nAfter one month of suspension of medications, in January 2023, the patient presented with a new episode of acute onset of dyspnea NYHA class III and tachypnea, arriving to the ED with an elevated D-dimer of 9480 ng/ml and troponin I of <0.05 ng/ml. TTE was performed within normal parameters. CTPA evidence showed PE at the posterior-basal segment (Figure 3A) of the right pulmonary artery (Figure 3B) and anterobasal and latero-basal segments of the left pulmonary artery (Figure 3C). Anticoagulation with enoxaparin was reinitiated. The patient was discharged with symptomatic improvement after five days of admission, with an NYHA class II, restarting anticoagulation with DOACs (rivaroxaban 20 mg QD) and supplemental oxygen requirement to maintain oxygen saturation greater than 92%. An outpatient follow-up posthospitalization was scheduled.",
"gender": "Female"
}
] |
PMC10894014
|
[
{
"age": 35,
"case_id": "PMC11179541_01",
"case_text": "A 35-year-old Palestinian male patient initially presented in 2012 with complaints of swelling in his neck and night sweats. Imaging studies was not clear then Fine Needle Aspiration was done and the biopsy revealed Hodgkin lymphoma, for which he underwent surgery and received chemotherapy with ABVD Protocol. The mass disappeared, and the patient remained asymptomatic until 2022 when he developed a symptoms of otitis media, URTI and a rash around the mouth, the rash was diagnosed with a herpes virus infection. During a routine follow-up for Hodgkin lymphoma, imaging showed lymph node swelling in the mediastinum (Figure 1(a) and 1(b)). An excision biopsy was planned but delayed due to ongoing inflammation. Subsequent evaluation revealed a recurrence of Hodgkin lymphoma, for which he underwent surgery and started receiving chemotherapy with GDP protocol.\nDuring the fourth dose of chemotherapy, the patient experienced nausea, loss of appetite, vomiting, and continuous fever, hospitalization and intravenous antipyretics were required for symptom management. Before the fifth dose of chemotherapy, the patient developed a continuous fever and a rash around the mouth and nose, consistent with herpes virus infection. Intravenous immunoglobulin (IVIG) was administered, and genetic testing was pursued.\nThere was no history of headache, weakness, seizures, ataxia, numbness, tingling, memory problems, hearing loss, double vision or vision loss, recurrent fever, abdominal pain, diarrhea and skin discoloration. To characterize and exclude neurological complications, a brain CT scan was performed, revealing normal findings with no evidence of stroke. His past medical history included recurrent herpes zoster infection, gout and chronic hepatitis B. Recently, he diagnosed with maturity-onset diabetes of the young type 2 (MODY2). He had been treated with Glucomet for MODY2, Allopurinol for gout and Tenofovir for hepatitis B.\nThe patient was febrile (41 C) on physical examination with stable vital signs. On abdominal examination, we observed hepatosplenomegaly showed in (Figure 2). Laboratory tests showed microcytic normochromic anemia (hemoglobin (HB) 9.8 gm/dl, mean corpuscular volume 78.0 FL, mean corpuscular hemoglobin (MCH) 24.4 pg), lymphopenia (lymphocytes 0.6 x 109/L), hypogammaglobulinemia (immunoglobulin M (IgM) 13 mg/dl, immunoglobulin G (IgG) 336 mg/dl), elevated erythrocyte sedimentation rate 20 Mm/h and C-reactive protein 138.09 mg/L. Table 1 demonstrate the difference in the lab values before and after the initiation treatment.\nWhole exome sequencing (WES) was prompted by the patient's persistent fever and the absence of a definitive diagnosis despite extensive medical evaluation. Given the complexity of the patient's symptoms, which included recurrent infections and hematologic abnormalities, there was a suspicion of an underlying genetic etiology. The sequencing was performed by MAKASSED ISLAMIC CHARITABLE HOSPITAL following standard protocols. Genetic test showed that the patient is affected with DADA2, also he has MODY2. The Homozygous missense C->A substitution at chr22:17662799 is predicted to result in abnormal protein translation of the ADA2 gene, leading to the amino acid change p.Leu451Phe. Additionally, there is a heterozygous missense C->T substitution at chr7:44192980 is predicted to result in abnormal protein translation of the GCK gene, leading to the amino acid change p.Arg43His. Details of WES are shown in (Table 1).\nThe patient referred to rheumatology clinic, to follow up disease course, and after researching in the patient's history, it was decided not to give Anti-TNF medication to prevent further decline in patient immunity, and keep on IVIG.",
"gender": "Male"
}
] |
PMC11179541
|
[
{
"age": 52,
"case_id": "PMC10494933_01",
"case_text": "A 52-year-old Chinese female patient was admitted to the emergency department due to 2 years of low back pain and 3 days of decreased muscle strength in the extremities. 2 years ago, she began experiencing lumbar back pain with mild lower limb radiating pain and numbness. After she underwent home physical therapy 1 week ago, the aforesaid symptoms intensified, and she went to the local hospital for an MRI of the lumbar spine, which revealed lumbar disc herniation. Three days ago, she started experiencing significant back pain and dysuria, followed by abnormal muscular strength and hypoesthesia in both lower limbs the next day. A day after that, the symptoms spread to both upper limbs. The patient had a history of Total Knee Arthroplasty (TKA) 6 years prior, which was performed under combined spinal-epidural anesthesia, with no reported history of diabetes or other diseases. Upon physical examination, the patient exhibited hypoesthesia below the inguinal plane, as well as biceps, triceps, finger flexors, and finger extensors muscle strength of grade 3 on both sides, muscle strength of grade 1 in both lower limbs, no fecal incontinence, and intact rectal tone. Upon admission, the patient presented with shortness of breath and confusion. A large amount of light red, thick sputum was aspirated by sputum suction. After face mask oxygenation, oxygen saturation was around 80%. Therefore, the patient was transferred to the intensive care unit (ICU) due to type II respiratory failure and a maximum temperature of 40.8 C. Blood tests showed elevated infection markers, including a total white blood cell (WBC) count of 26.6 x 109/L (normal range: 3.5-9.5 x 109/L), 85% neutrophils (normal range: 40-75%), increased C-reactive protein (CRP) levels of 25.03 mg/dL (normal range: <0.6 mg/d L), and increased procalcitonin (PCT) levels of 1.96 ng/mL (normal range: <0.05 ng/dL). Although a fluoroscopic-guided lumbar puncture was unsuccessful, an intravenous gadolinium-enhanced magnetic resonance imaging (MRI) revealed an abnormal signal shadow ventral to the spinal canal in the cervicothoracic segment and dorsal to T12-S1 level (Figure 1). Blood culture results confirmed the presence of S. intermedius, which was sensitive to vancomycin. Unfortunately, we did not rule out the possibility of false-positive blood cultures by means of genetic tests such as 16S rRNA or mNGS. Empirical IV antibiotic treatment with vancomycin (50u ivd q8h) was initiated, followed by the addition of meropenem (1 g ivd q8h) and moxifloxacin (0.4 g ivd qd) after receiving the blood culture results. Vancomycin dosing was adjusted dynamically based on blood concentration. The patient's clinical presentation of paraplegia and decreased muscle strength did not improve during the first 2 days of initial antibiotic treatment. The spine surgeons, in conjunction with the ICU physicians, discussed the following results: The patient's rapidly progressing and worsening neurologic symptoms within 72 h require urgent decompression surgery. However, the cervicothoracic segment abscess located ventrally may not drain adequately. Abscesses of the lumbar segment located dorsally have relatively poor outcomes after decompression surgery, and there is no additional benefit to early surgical treatment. Patients may not tolerate the shock of prolonged decompressive surgery of multiple spinal segments. Therefore, the patient was informed that progressive neurological deterioration may not be completely resolved even after delayed surgical treatment. After obtaining informed consent, we decided to continue treatment with antibiotics for at least 6 weeks. After 5 days of IV antibiotic treatment, blood culture results were negative. Following 1 month of antibiotic treatment, the patient's maximum temperature decreased to below 38.0 C, and her WBC count was 10 x 109/L with a CRP level of 6.19 mg/dL. After 43 days of IV antibiotic treatment, the patient exhibited grade 4 muscle strength bilaterally in the biceps, triceps, finger flexors, and finger extensors. At this time, a repeat MRI showed a significant reduction in the holospinal abscess, particularly in the upper lumbar segment (Figure 2). After 45 days of IV antibiotic treatment, the patient was transferred back to the general ward from the ICU. Laboratory examinations after 50 days of IV antibiotic treatment demonstrated normal findings in the patient's WBC count, neutrophil count, CRP level, and PCT level. However, despite 2 months of hospital treatment, there was no significant improvement in weakness observed in both lower extremities. At the 1.5-year follow-up, a repeat MRI revealed complete resolution of the epidural abscess (Figure 3), and the patient's muscle strength returned to grade 5 in the extremities. Nevertheless, numbness in both lower extremities persisted.",
"gender": "Female"
}
] |
PMC10494933
|
[
{
"age": 16,
"case_id": "PMC10582693_01",
"case_text": "A 16-year-old female patient was referred to our outpatient clinic for the management of a thyroid nodule in June 2022. She was born full-term in 2006, with multiple congenital dysmorphisms, including hands and feet syndactyly and oligodactyly, right eye coloboma, right microphthalmia, right optic nerve hypoplasia, ridged malformed nails, skin telangiectasias, and mild facial dysmorphism. For these clinical findings, the pediatrician suspected she could be affected by GGS. Subsequently, in 2007, a DNA sample was taken and sent to an international genetic center for the PORCN mutation analysis. As the PORCN gene encodes in 15 exons of the longest splice variant, isoform D, a 1,386-bp cDNA that is translated into a protein of 461 amino acids, the coding exons, including the intron-exon boundaries, were amplified from genomic DNA. The PCR products were sequenced on both strands of the DNA. The PCR products of exon 14 were subjected to single-strand conformation analysis. The presence of a point mutation encountered was searched in a sample of 100 unrelated individuals to exclude that it represented a polymorphism. The DNA sequence analysis of the PORCN gene from our patient detected in exon 14, in addition to a wild-type sequence, a de novo heterozygous missense mutation c.1250T>C; p.F417S. A mutation was confirmed by single-strand conformation analysis. Furthermore, it was not detected in 100 unrelated control individuals, so the involvement of PORCN in our patient with the clinical suspicion of GGS was supported by the identification of the missense mutation within the transcribed PORCN sequences exchanging a conserved amino acid.\nAfter the identification of the PORCN mutation in the patient, her parents also underwent genetic screening for the mutation research, which yielded negative results. During her clinical history, she also showed dental anomalies, hair shaft anomalies, orbital and endocranial calcifications, alternate light-dark patches over the extremities and trunk, atrial septal defect, mild pulmonary hypertension, urinary and abdominal disturbances, mild developmental delay, and short stature. Surgical history included several orthopedic interventions for skeletal abnormalities. During a cardiological checkup, a thyroid nodule was found in the right lobe, for which she was referred to our center.\nA diagnostic workup was started. TSH levels were normal (1.4 mcIU/mL), calcitonin, TPO-Abs, and Tg-Abs levels were undetectable, but neck ultrasound showed a 17-mm solid, hypoechoic nodule in the middle of the right lobe, in the context of a multinodular goiter [right lobe: 1.3 (transverse) x 1.4 (anteroposterior) x 4.2 (longitudinal) cm, volume = 4 mL; left lobe: 1.2 (transverse) x 1.2 (anteroposterior) x 3.9 (longitudinal) cm, volume = 2.9 mL]. The ultrasound did not show neck lymph nodes suspicious for malignancy. A thyroid fine needle aspiration biopsy was therefore performed; at the cytological examination, the smear showed cells with nuclear atypia, nuclear inclusions and rare grooves arranged in micro follicles, and foam histiocytes. The cytology sample was suspicious of malignancy (Thy4, according to the British Thyroid Association classification system 2014). Figures 1A, B depict the main cytological features. Molecular analyses on the cytology sample were negative for gene mutations (N-RAS, K-RAS, H-RAS, and bRAF). The genetic analysis was performed either on cytological specimens or on histological specimens after surgery.\nIn August 2022, the patient underwent total thyroidectomy plus lymphadenectomy of the right central compartment (level VI). The operation was complicated by a neck hematoma that was treated by topical therapy. The scar healed very slowly and a broad-spectrum antibiotic therapy was given. The histological exam disclosed multifocal, bilateral, classic PTC ( Figure 2 ), infiltrating the tumor capsule, and micrometastases (i.e., metastases less than 0.2 mm) in five lymph nodes (5+PTC/7). The tumor infiltrated the thyroid right lobe, but neither thyroid capsule nor vessel invasion was detected. According to the TNM AJCC classification system, 8th edition, the neoplasm was classified as pT1bm, pN1a, cM0. Following thyroidectomy, serum thyroglobulin concentrations were elevated at 2.3 ng/mL. Thus, the patient was submitted to radioiodine (131I) ablation therapy after administration of recombinant human thyrotropin (Thyrogen, 0.9 mg I.M., once a day for two consecutive days). Thyroglobulin autoantibodies were undetectable either before or after surgery. After 3 and 6 months, 131I, serum thyroglobulin concentrations were undetectable, and neck US did not demonstrate residual thyroid tissue or suspicious neck lymph nodes. The patient is regularly followed up, without disease recurrence (Table 2).",
"gender": "Female"
}
] |
PMC10582693
|
[
{
"age": 67,
"case_id": "PMC10748468_01",
"case_text": "A 67-year-old man presented in our institution for unstable angina, caused by an 80% stenosis at the ostium of the LMCA.\nInitial attempts at OCT imaging were hindered by the guiding catheter obstructing the LMCA ostium. The use of a GEC allowed the retraction of the EBU catheter from the left main, while still providing selective contrast delivery mandatory for OCT imaging. We used three different GEC: Guidion, Guideliner and Telescope, each measuring 150 cm in length, 6F in diameter, with a 25 cm distal extension. They all enabled OCT imaging but presented a short blind spot at their distal tip, due to a radiopaque marker, limiting OCT visualization by 1-2 mm (see Supplementary material online, Videos S1 and S2). The Telescope GEC utility in analogous scenarios has been published; however, it is pertinent to note that if alternative GEC proved to be compatible with OCT, they all (Telescope included) revealed circumscribed blind spots, refractory to near-infrared light, resulting in limited constraints for OCT imaging (Panels A-F). Nevertheless, angioplasty of the LMCA was successfully performed. To ensure a proper aorto-ostial evaluation, the GEC needed to be engaged over a length of at least 5 mm within the vessel.\nOur report supports the belief that the synergy between GEC and OCT presents significant promise for intravascular coronary assessments, notably for aorto-ostial studies. Additionally, this combination not only facilitates the OCT catheter deliverability but has also the potential to decrease the volume of contrast injection required, thereby enhancing overall imaging quality.",
"gender": "Male"
}
] |
PMC10748468
|
[
{
"age": 42,
"case_id": "PMC11184994_01",
"case_text": "A 42-year-old man, previously without any medical history, started complaining of sudden intermittent bloody stools, weight loss, and diarrhea. Despite these symptoms, he did not seek medical attention elsewhere until 6 months later, when he was referred to our center for evaluation.\nThe physical exam revealed stable vital signs with generalized skin and conjunctival pallor and examination of the rectum revealed an indurated, circumferentially fixed and partially obstructive mass located 7 cm from the anal margin.\nA colonoscopy was performed; revealing an ulcer-budding stenotic tumor of the middle rectum located 7 cm from the anal margin. Several biopsies were taken during the procedure. The histological analysis revealed signet ring cell adenocarcinoma. Given this finding, we conducted an esophago-gastro-duodenoscopy with biopsies, which uncovered no signs of malignancy.\nThe abdominopelvic magnetic resonance imaging (MRI) revealed an infiltrating and budding thickening of the mid-rectum measuring 70 mm in height and 16 mm in maximum thickness. The process appeared heterogeneous with hypointensity on T1, moderate hyperintensity on T2, and heterogeneous enhancement with infiltration of the rectal wall, mesorectal fat, and the right posterior rectal fascia associated with multiple mesorectal lymph nodes. The thoraco-abdominal computed tomography (CT) scan showed no evidence of metastatic lesions and the tumor was staged as T3d N2 M0. Laboratory tests showed anemia at 9 g/dl, normal levels of leukocytes and platelets, normal renal and hepatic function, and normal carcinoembrionary antigen level of 1.28 IU/L (normal range: 0-2.5 IU/L).\nThe patient presented 1 week later with symptoms of acute intestinal obstruction, for which he underwent a diverting colostomy. Then, he was started on concurrent chemoradiotherapy, receiving a total dose of 45 Gy, divided into 30 sessions with oral xeloda-based chemotherapy. During the restaging workup, the MRI revealed a partial response. After multidisciplinary consensus, a protected anterior resection was agreed upon.\nPeroperative findings revealed a supraumbilical subcutaneous parietal well-limited lipoma of 8 cm of greatest dimension, which was resected.\nHe underwent an anterior resection and manual coloanal anastomosis with a temporary ileostomy. The surgical procedure was carried out uneventfully. The patient was discharged on the seventh postoperative day.\nThe histopathological examination of the anterior resection specimen reveals an ulcerated and infiltrative tumor on the right anterolateral wall of the rectum, measuring 35*15 mm. Microscopic examination concluded that the residual tumor is classified as grade 2 according to the Dworak classification (presence of fibrous or mucinous remodeling with a few persistent cells or glands). The remnant tumor cells infiltrate the wall down to the perirectal fat with a clearance of less than 1 mm. There was no evidence of lymphovascular or perineural invasion. Two metastatic lymph nodes out of 11 nodes sampled were identified.\nThe adipose mass weighs 60 g and measures 80*65*30 mm. At cut section, poorly defined fibrous areas were identified and well-sampled. Microscopic study revealed infiltration by a mucinous adenocarcinoma with a contingent of signet ring cells (Figures 1 and 2).\nThe disease was staged as ypT4N1M1 according to the Union for International Cancer Control (UICC) tumor node metastasis (TNM) staging classification. The patient was referred to the oncology department. He started adjuvant chemotherapy with FOLFOX-6 regimen (fluorouracil + leucovorin + oxaliplatin). A body CT scan during treatment revealed disseminated disease with diffuse peritoneal carcinomatosis. The patient received corticosteroid therapy and was proposed for second-line chemotherapy, but unfortunately, he passed away 12 months later.",
"gender": "Male"
}
] |
PMC11184994
|
[
{
"age": 8,
"case_id": "PMC11426451_01",
"case_text": "The studies present a comprehensive examination of childhood obesity, encompassing its etiology, associated comorbidities, and available treatment modalities. The authors underscore the substantial global rise in childhood obesity prevalence and delineate a spectrum of factors contributing to its onset, encompassing genetic, environmental, and behavioral influences. Additionally, the studies explore the comorbidities correlated with childhood obesity, including cardiovascular disease, type 2 diabetes, and sleep apnea. Ultimately, the authors provide an overview of treatment options for childhood obesity. A Denmark study showed that a primary prevention intervention targeting obesity-susceptible, healthy-weight preschool children effectively mitigated fat and weight gain. Similarly, research conducted in the U.S. revealed an association between patterns of early life BMI and the prevalence of overweight and obesity in 8-year-old children. A German study showed that birth weight and weight changes during infancy to early childhood can predict BMI in adolescence. This longitudinal study, spanning from birth to age 14, established that early weight gain significantly predicts adolescent BMI.\nThese findings propose that trajectories of BMI in early life could serve as valuable indicators for identifying children at risk of obesity, thereby aiding in the formulation of informed prevention strategies.",
"gender": "Unknown"
},
{
"age": 7,
"case_id": "PMC11426451_02",
"case_text": "A study on 7-year-old European children in Auckland, New Zealand identified maternal smoking during pregnancy, elevated maternal pre-pregnancy BMI, and diminished levels of physical activity as key factors associated with childhood obesity. A U.S. study on associations between the age of onset of overweight/obesity and children's socio-demographic characteristics revealed a significant link between the frequency of moving houses and an earlier onset of obesity in children, with an approximate advancement of 4 months. In Norway, a noteworthy escalation in weight-for-height and skinfold thickness has been observed among children over recent decades. Studies in Ghana, and Bahir Dar City, Ethiopia, identified low participation in sports activities, maternal tertiary education, higher household socioeconomic status, and attending private school as significant factors associated with childhood obesity. In China, eating speed, sleep duration, birth weight, paternal BMI, frequency of fast-food intake, gestational weight gain (GWG), and maternal pre-pregnancy BMI were associated with childhood obesity. The analysis of BMI data from 5173 children aged 3 and 5 showed that children born large for gestational age, overweight/ obese at age 3 often face an increased risk of obesity at age 5.\nResearch on large pediatric health data in the U.S. showed age is a significant predictor of obesity, and females with lower income have a higher obesity risk.\nAnalysis of the National Health and Nutrition Examination Survey from 2001-2008 in the U.S. showed that the prevalence of obesity was higher among older children (aged 12-19) than younger children (aged 2-11) with the highest prevalence among non-Hispanic black adolescents (aged 12-19). Similar studies have used machine learning to predict childhood and adolescent obesity and identified age as a key factor in predicting childhood and adolescent obesity with older age groups having higher rates.\nThe prevalence of childhood and adolescent obesity in Saudi Arabia has been steadily increasing in recent years. A cross-sectional study involving 20,000 children in the Eastern Province showed that the prevalence of obesity was higher among boys (16.2%) than girls (12.7%) and increased with age. The highest prevalence was observed among children aged 10-12 years and adolescents aged 15 to 19 years. The significant predictors of childhood obesity were Parents' education level, age, glucose level, and blood pressure. It has been reported that the overall prevalence of overweight and obesity among children and adolescents in the country is 36.5%, with 17.9% categorized as overweight and 18.6% as obese. The study also showed a higher prevalence among boys (41.3%) compared to girls (31.6%). Various risk factors, including a family history of obesity, insufficient physical activity, and high consumption of fast food and sugary drinks have been associated with childhood obesity.\nInvestigating the link between physical activity, sedentary behaviors, breakfast consumption, and BMI among Saudi students aged 10-15 years, discovered that sedentary behaviors, such as prolonged screen time and lack of physical activity, correlated positively with higher BMI. Conversely, regular breakfast consumption was associated with a lower BMI. In a review, addressing the unique challenge of obesity in Saudi Arabia, highlighted the nation's dual status of high-income and a developing country. Saudi Arabia with an overall obesity rate of 33.7% is ranked 15th globally. It is projected that, by 2017, the prevalence would reach 38.2% among men and 67.5% among women, resulting in an overall rate of 52.9%. The rates were projected to reach 41.4%, 77.6%, and 59.5%, respectively.",
"gender": "Female"
},
{
"age": 14,
"case_id": "PMC11426451_03",
"case_text": "The research conducted in 2020 showed that the percentage of obesity and overweight among children aged 6 to 14 years old in Majmaah, Saudi Arabia was 10.1% and 18.9% respectively. Male children had an obesity rate of 11.2% and an overweight rate of 17.6%, while female children had an obesity rate of 9.2% and an overweight rate of 19.8%. A primary-school-based survey was used for these estimations. The overall prevalence of overweight and obesity among male children aged 7 to 15 years in Al-Ahsa, was 29.6% of which 10.8% were overweight, 3.8% obese, and 15% extremely obese. The rates have been increasing with increasing age. The high prevalence of obesity was linked to early childhood obesity, parental obesity, mother's employment, family income, the number of snacks and fast food eaten, physical inactivity, and time spent viewing television. Additionally, emotional eating, family meals, and consistent meal times were independently associated as well.\nPredicting the age at the onset of obesity would enable health professionals to develop an early intervention plan involving lifestyle changes and dietary advice for children at risk of developing obesity. Early detection and interventions will also reduce the financial burden of treating obesity later in life. Furthermore, understanding the factors associated with age at the onset of childhood obesity would help to develop informed and effective public health policies and strategies to reduce childhood obesity and improve the quality of life for those affected. Various machine learning algorithms have been used to predict age and to identify the risk factors associated with childhood obesity.\nChildhood and adolescent obesity is a major problem around the world and has significantly increased in the Middle East in recent years. Among Saudi Arabian children, the prevalence of obesity is rapidly increasing and has become a critical public health concern. Obesity in childhood can lead to various health problems in adulthood, including diabetes, heart disease, and certain cancers.",
"gender": "Female"
},
{
"age": 19,
"case_id": "PMC11426451_04",
"case_text": "Despite efforts to reverse this situation, the prevalence remains high, suggesting that the current intervention approach is inadequate. The existing obesity research conducted in Saudi Arabia has examined the different aspects of childhood and adolescent obesity but has not modelled the age at the onset of childhood obesity. This study aims to fill the gap by utilising a secondary data source, to develop a reliable prediction model to estimate the age at the onset of obesity for children and adolescents aged 3-19 years old and to identify the potential environmental and clinical risk factors associated with the age. The performance of the predictive models MLR, RF, DT, and KNN will be compared using a variety of metrics such as the coefficient of determination R2, the root means squared error (RMSE), and the mean absolute error (MAE). The results of this study will provide insights into the potential of machine learning algorithms to predict the age at the onset of childhood obesity in Saudi Arabia. To the best of our knowledge, no previous studies have modelled the age at the onset of childhood obesity in Saudi Arabia. This research can facilitate early diagnosis and effective preventive strategies to reduce/prevent childhood and adolescent obesity and its related health problems, such as cardiovascular diseases, diabetes, and psychological disorders. The outcomes of this research both support the improvement of the nation's health and add to the current research on childhood obesity in diverse populations while recognising the lack of obesity studies for Saudi Arabia children. The model can facilitate early diagnosis and intervention plans to reduce/prevent childhood obesity. The results revealed that R.F. outperforms other models followed by MLR, DT, and KNN. The results also show that the age at the onset of obesity was linked to several demographic, medical, and lifestyle factors including gender, education and income level of parents, first-degree family history of obesity, autism, gestational age, height, nutrition in the first 6-months, weight at birth, child sleep hours, consanguineous marriage and lack of Physical activities.",
"gender": "Unknown"
}
] |
PMC11426451
|
[
{
"age": 70,
"case_id": "PMC10973641_01",
"case_text": "A 70-year-old woman had been affected by rheumatoid arthritis two years ago and started treatment with methotrexate one year ago by a rheumatologist who opened a clinic near our hospital. There were no complications of rheumatoid-related interstitial pneumonia or chronic lower respiratory tract infection. In January of a certain year, she underwent transurethral lithotripsy in the urology department due to right ureteral calculi and calculous pyelonephritis. She had respiratory symptoms of cough, sputum, and fever before surgery. The COVID-19 and Flu antigen tests were negative. A postoperative chest radiograph showed infiltrative shadows in her right middle and lower lung field. She was suspected of developing bacterial pneumonia, and tazobactam/piperacillin 13.5 g/day and levofloxacin 500 mg/day were administered. However, symptoms and infiltrative shadows did not improve. She visited the respiratory medicine department for an investigation.\nA physical examination revealed a body temperature of 37.7 C, and coarse crackles were heard in the right lower lungs. Laboratory test results showed a white blood cell count of 8600/muL (neutrophil count of 5330/muL, lymphocyte count of 2490 mu/L), C-reactive protein (CRP) of 3.30 mg/dL, serum rheumatoid factor (RF) of 25 IU/mL, and anti-cyclic citrullinated peptide (CCP) antibody of 856 U/mL. beta-D-glucan, anti-mycobacterium avium complex (MAC) antibody, QuantiFERON (QFT), and HIV antibodies were negative.\nChest radiography showed multiple infiltrative shadows with surrounding consolidation of the right middle and lower lobes (Fig. 1). The administration of antibiotics was ineffective. On the 10th day, after consulting with our department, a bronchoscopy was performed, followed by bronchoalveolar lavage (BAL) and endobronchial ultrasonography with a guide sheath (EBUS-GS). The BAL lymphocyte count was increased (65.1%). Histopathological findings were consistent with numerous bowl-shaped cryptococcus cells stained black by Grocott staining. Cryptococcus cells produced granulomatous lesions, and the bacterial cells themselves are not stained and only appear missing with HE staining (Fig. 2). Added measurement of serum cryptococcal antigen titers was 4096-fold. When asked in detail, swallows had built nests at the patient's house entrance, and there had been a large amount of swallow excreta. She cleaned without putting on a musk and inhaled much excreta for one year before developing symptoms. Considering that the incubation period from being infected with Cryptococcus fungi to developing symptoms can range from 6 weeks to 2 years, there was a possibility of the infection route of Cryptococcus from swallow excreta. We consulted with a neurologist regarding the necessity of cerebrospinal fluid testing. However, since no symptoms or findings suggest meningitis, the neurologist decided that a cerebrospinal fluid test was unnecessary. Therefore, we considered that we did not need to perform a head MRI. Treatment with fluconazole 400 mg/day was initiated, and her symptoms resolved; the shadows of the lung fields improved, her blood CRP count decreased to normal, and serum cryptococcal antigen titers decreased to 4-fold. We finished the treatment in about a year (Fig. 3). No recurrence was observed after that.",
"gender": "Female"
}
] |
PMC10973641
|
[
{
"age": 60,
"case_id": "PMC10898245_01",
"case_text": "In September 2022, a 60-year-old male patient with no history of chronic disease or chronic medication, no family history of cancer and a history of smoking was admitted to the hospital's rheumatology and immunology department with complaints of facial and neck redness and swelling, which subsequently extended to the anterior and posterior chest regions. Over time, the patient also developed facial swelling, prominent purplish-red edema in and around the double eyelids and anterior chest area V, along with increasing weakness, bed confinement, and difficulty swallowing. Based on these clinical symptoms and signs, an initial diagnosis of dermatomyositis was established, and oral prednisone at a daily dose of 75mg was initiated (with reference to the standard treatment of 0.75-1mg kg-1 d-1). To further confirm the diagnosis of dermatomyositis, a battery of laboratory tests, electromyography, and a skin muscle biopsy were conducted. Routine laboratory investigations (complete blood count and biochemical profile) and the rheumatologic immunity investigations (ANA and ANCA) showed no abnormalities. However, on October 8, 2022, the creatine kinase level was measured at 1127U/L (normal range: 50-310U/L). Electromyography results indicated i) normal nerve conduction in the upper and lower limbs, and ii) myogenic abnormalities in the assessed muscles ( Appendix A ). The skin biopsy, while inconclusive for dermatomyositis, revealed certain characteristic features. Muscle biopsy results demonstrated partial degeneration of striated muscle, loss of transverse lines, and a minor lymphocyte infiltration between muscle fibers, thus firmly establishing the diagnosis of dermatomyositis ( Figure 1 ). Subsequently, the treatment approach was adjusted to include intravenous methylprednisone at 60mg, supplemented by oral hydroxychloroquine at 0.4g. On October 11, 2022, laboratory assessments showed a creatine kinase level of 639U/L. However, despite these interventions, there was no significant improvement in the patient's clinical presentation.\nGiven the recent emergence of an irritating dry cough in the patient, unaccompanied by hemoptysis, we opted to conduct CT and PET-CT examinations. The findings revealed a space-occupying lesion in the left lung, characterized by an escalating nodular density and increased glucose metabolism at the posterior extremity of the upper lobe tip of the left lung. This prompted the consideration of a central lung mass, along with the identification of multiple intramediastinal and left hilar lymph node metastases. To conclusively establish the nature of the lesion, a bronchoscopic biopsy was performed, confirming the diagnosis of small cell lung cancer (limited-stage, T1cN3M0 IIIB) ( Figure 2 ). With this confirmation, our suspicion that lung cancer might underlie the patient's dermatomyositis gained credence, leading us to initiate a dual treatment approach addressing both conditions. Taking into account the patient's pathological subtype, disease stage, and overall physical condition, we formulated a treatment plan involving a combination of chemotherapy and radiotherapy (The specific plan was as follows: for the first course of treatment, etoposide combined with loplatin; the second to sixth courses were etoposide combined with carboplatin). Consequently, the patient commenced the initial chemotherapy regimen, comprising etoposide and cisplatin, on October 14, 2022.\nOn October 17, 2022, following the initial chemotherapy session, the patient's creatine kinase levels were reevaluated, yielding a reading of 166U/L (within the normal range of 50-310U/L). Subsequently, creatine kinase levels and lung CT scans were reassessed after the second chemotherapy cycle. The patient exhibited a creatine kinase level of 78U/L, accompanied by a reduction in the lung mass to 1.1cm in size. Following the third chemotherapy session, the patient underwent radiation therapy. Over the subsequent months, until February 2023, the patient completed three additional rounds of chemotherapy and was subjected to a reevaluation following a cumulative total of six chemotherapy cycles and one radiation therapy session. The creatine kinase level was measured at 33U/L, and further shrinkage of the mass was observed. Concurrently, as hormone dosages were gradually tapered, the patient experienced an amelioration of symptoms, including muscle weakness, dysphagia, and skin rashes. By March 2023, the patient required only a daily oral dose of 10mg of Prednisone for maintenance.\nContinued patient follow-up until August 2023 revealed a significant reduction in the primary lung lesion, accompanied by the gradual resolution of dermatomyositis-related symptoms, such as skin rashes. Laboratory assessments recorded a creatine kinase level of 26U/L. Moreover, the oral hormone dosage was further reduced to 5mg of prednisone ( Figures 3 , 4 ).",
"gender": "Male"
}
] |
PMC10898245
|
[
{
"age": 1,
"case_id": "PMC11446184_01",
"case_text": "A male patient, identified as JU2139, exhibited infantile nystagmus noticed by his parents before he was 1 year old. He has reported experiencing night blindness since early childhood, although no systemic diseases have been diagnosed. There was no history of consanguinity among his unaffected parents. The patient recalled having relatively good visual acuity upon entering elementary school. His first ophthalmological consultation occurred at 13 years of age at a local clinic, where he was observed for 3 years. Initial fundus photography indicated mild coarsening of the retinal pigment epithelium (RPE) bilaterally (OU). The patient was eventually diagnosed with LCA. By the age of 24, he achieved a decimal best-corrected visual acuity (BCVA) of 0.5 (Snellen equivalent 20/40) in the right eye (OD) and 0.4 (Snellen equivalent 20/50) in the left eye (OS).\nAt 27 years of age, the patient was referred to the Department of Ophthalmology at The Jikei University Hospital for evaluation of a suspected inherited retinal dystrophy. The examination revealed a decimal BCVA of 0.1 (Snellen equivalent 20/200) OD and 0.2 (Snellen equivalent 20/100) OS, with respective refractive corrections of +2.50 diopters sphere (DS) with -2.00 diopters cylinder (DC) at 180 degrees OD and +1.75 DS with -3.00 DC at 175 degrees OS. Intraocular pressure was measured at 17 mmHg OD and 14 mmHg OS. Slit-lamp examination of the anterior segment showed no remarkable abnormalities. Examination of the posterior segment through fundus photography disclosed alterations in the RPE characterized by hypopigmentation, as well as narrowing of retinal vessels OU (Figure 1A). Both conventional and ultra-widefield fundus autofluorescence (FAF) imaging revealed areas of hyper-autofluorescence corresponding to the lesions and a generally diminished FAF signal within and beyond the vascular arcades (Figure 1B). Optical coherence tomography (OCT) performed using a Cirrus 5000 system (Carl Zeiss Meditec AG, Dublin, CA, United States), revealed disruption of ellipsoid zone (EZ), interdigitation zone and external limiting membrane OD. In contrast, the left eye exhibited a faintly preserved EZ in the foveal region (Figure 1C). Full-field electroretinograms (ERGs) were obtained under both dark-adapted (DA) and light-adapted (LA) conditions with dilated pupils, induced by a combination of tropicamide and phenylephrine hydrochloride eye drops, in accordance with the International Society for Clinical Electrophysiology of Vision protocols. In the ERGs, the recorded amplitudes of the rod (DA 0.01 cd s m-2) b-waves, standard/bright-flash (DA 3.0/10.0 cd s m-2) a- and b-waves, cone (LA 3.0 cd s m-2) a- and b-waves and LA 30-Hz flicker responses were undetectable (Figure 2), signifying a generalized dysfunction of both rod and cone systems.\nFor the purpose of genetic testing, the protocol of our study received approval from the Institutional Review Board of The Jikei University School of Medicine (approval numbers: 24-2316997). Informed consent was procured from both the patient and his parents. Genomic DNA was initially extracted from peripheral blood samples. Subsequent whole-exome sequencing (WES) and bioinformatics analyses were conducted to identify disease causing variants in the patient's genome. The methodologies for WES have been elaborated upon in our previous publications. The Genome Reference Consortium Human Genome Build 38 (GRCh38) served as the reference sequence. Through a series of filtering steps, two missense variants in RPE65 (NM_000329.3) were detected: c.1172C > A (chr1:68431542G > T, GRCh38.p14, rs753540419); p.(Ala391Asp) in exon 11 and c.1543C > T (chr1:68429835G > A, GRCh38.p14, rs121917745);p.(Arg515Trp) in exon 14. These variants were visualized using the Integrative Genomic Viewer (IGV version 2.16.2, Broad Institute, MA, United States) software, as depicted in Figure 3A.\nSanger sequencing was performed for validation of the variants and for cosegregation analysis. The following primer sets were used for RPE65: exon 11: forward primer (RPE65-11bF) 5'-GAGCCAAGACTTAAGAACTC-3' and reverse primer (RPE65-11bR) 5'-GACTAGCATATACTCAAAGCAC-3', and exon 14 forward primer (RPE65-14F) 5'-TTAGAGCTTACAGTGTAGGTAG-3' and reverse primer (RPE65-14R) 5'-AAGCCATTTAGTAAGTCCAC-3' were used. His mother carried the p.(Ala391Asp) variant heterozygously, while his father carried the p.(Arg515Trp) variant heterozygously (Figure 3B).\nThe p.(Ala391Asp) variant has never been previously reported, as confirmed by searches in the Human Gene Mutation Database Professional (HGMD)1 as of February 2023, Leiden Open Variation Database 3.0 (LOVD)2 and ClinVar,3 thus designating it as a novel missense variant. The alanine residue at position 391, within the dimer-mediating region composed of amino-acid residues 371-404, is highly conserved across vertebrate species. The allele frequency of the p.(Ala391Asp) variant in the Genome Aggregation Database (gnomAD)4 is exceedingly rare at 0.000004 (1 in 250,644 alleles). This variant is absent in the Tohoku Medical Megabank Organization's 54 K Japanese Genome Variation Database [ToMMo 54KJPN; ]5, which includes data from 54,267 Japanese individuals. According to the American College of Medical Genetics standards, the p.(Ala391Asp) was determined to be \"pathogenic\" based on the following criteria: PM1 (within the dimer-mediating region), PM2 (not found in controls), PM3 (detected in trans), PP3 (computational evidence for pathogenicity), and PP4 (highly specific for the LCA phenotype). The other p.(Arg515Trp) variant, classified as pathogenic in ClinVar, has been documented in Japanese patients diagnosed with LCA (Table 1). Within the ToMMo 54KJPN, this variant's allele frequency stands at 0.0008 (86 in 108,534 alleles), which is notably 80-fold higher than the frequency observed in gnomAD, where it is 0.00001 (4 in 280,264 alleles).",
"gender": "Male"
}
] |
PMC11446184
|
[
{
"age": 11,
"case_id": "PMC10631780_01",
"case_text": "An 11-year-old girl noticed horizontal diplopia when gazing at distant objects, and the diplopia did not improve after 2 weeks. On a typical day, her time of near-work activity was about 3 h. She was otherwise in good health with no history of head trauma, systemic illness, or psychogenic stress.\nHer uncorrected visual acuity was better than 20/20 in both eyes, and her exact refraction was as follows: R (S -0.50D C + 0.50D A 170 ) L (S + 0.00D C + 0.25D A 175 ). Intraocular pressure was 19 mm Hg in her right eye and 17 mm Hg in her left eye. Her pupils were round and equal, light reflex was complete in both eyes, and nystagmus was not observed. Examinations of the anterior segment, ocular media, and fundus of each eye yielded normal findings. The single prism cover test revealed basic esotropia of 30 prism diopters (PD) at near fixation and 35 PD at distant fixation. The ocular rotations were full without nystagmus. Although Hess red-green test revealed inward displacement of both eyes (Fig. 1a), restriction of eye movement was not observed with Hess red-green test under prism neutralization (Fig. 1b), and comitant esotropia was confirmed. As AACE was suspected, brain MRI was performed to detect intracranial disease. Brain MRI revealed a swollen internal nonuniform high-signal area on T2-weighted image (Fig. 2a). On gadolinium contrast-enhanced brain MRI, the T1-weighted image had poor contrast (Fig. 2b). Additional head computed tomography showed a lesion with unclear borders and poor contrast enhancement at the same site. There were no signs of meningism or increased intracranial pressure. These results were considered suggestive of diffuse midline glioma. She was immediately referred to neurosurgery and diagnosed with diffuse intrinsic pontine glioma. Local radiotherapy (1.8 Gy administered 30 times) was performed, and brain MRI showed tumor shrinkage after radiotherapy (Fig. 2c).",
"gender": "Female"
},
{
"age": 4,
"case_id": "PMC10631780_02",
"case_text": "A 4-year-old boy presented with esotropia, which was noticed by his parent and did not improve after 2 months. He was in good health with no history of head trauma or systemic illness. His uncorrected visual acuity was better than 20/20 in both eyes, and his refraction was as follows: R (S + 0.00D C + 2.00D A 180 ) L (S + 0.00D C + 0.75D A 180 ). Intraocular pressure was 14 mm Hg in his right eye and 15 mm Hg in his left eye. His pupils were round and equal, light reflex was complete in both eyes, and nystagmus was not observed. Examinations of the anterior segment, ocular media, and fundus of each eye yielded normal results. The single prism cover test revealed basic esotropia of 40 PD at near fixation and at distant fixation. The ocular rotations were full without nystagmus. The simple Hess red-green test was not performed; however, restriction of eye movement was not observed with the Hess red-green test under prism neutralization (Fig. 3a), and comitant esotropia was confirmed.\nTo differentiate between AACE and other types of esotropia associated with intracranial disease, MRI was performed, and the MRI revealed a medullary tumor. Then he was diagnosed with pilocytic astrocytoma (Fig. 3b, c). Since the tumor was low-grade, he was followed up without treatment, but use of prism glasses for diplopia did not result in any changes in the esotropia. Therefore, he underwent bilateral medial rectus recession surgery approximately 1 year after his initial visit.",
"gender": "Male"
}
] |
PMC10631780
|
[
{
"age": 67,
"case_id": "PMC10619460_01",
"case_text": "A 67-year-old woman from Beijing, China, was admitted to the hospital with a history of intermittent wheezing for 33 years and shortness of breath on exertion for 7 years. She developed intermittent wheezing accompanied by coughs 33 years ago after getting a cold and the symptoms subsided after antibiotic treatment (details unknown). The symptoms occurred once every 1 to 2 years. There was shortness of breath that occurred after walking 500 meters 7 years ago. She experienced these symptoms 22 days prior to hospitalization after catching a cold and was accompanied with a fever reaching 38.2 C. She was admitted to emergency department and treated for asthma with infection using intravenous methylprednisolone (40 mg/d) and moxifloxacin infusions, and her symptoms slightly improved. She never experienced hemoptysis, night sweats, skin rash, joint swelling and pain since the onset.\nShe was diagnosed with allergic rhinitis 7 years prior and highlighted no history of tuberculosis and no history of smoking, alcohol, or drug use.\nShe had no obvious abnormalities in other physical examinations except for diffuse wheezing during expiration and inspiration.\nBlood routine tests revealed a white blood cell count of 11.7 x 109/L, 82.5% neutrophil percentage, and 0.0% eosinophil percentage. Chest radiograph revealed atelectasis of the right middle and lower lobes, and a fiber chord could be seen in the left lung (Figure 1).\nFurther diagnostic tests revealed total serum immunoglobulin (sIgE) of 444.0KU/L, sIgE against Artemisia argyi was 100.0KU/L. Pulmonary function testing revealed an obstructive ventilation dysfunction, forced expiratory volume in the first second (FEV1)/forced vital capacity (FVC) 55.73%, and FEV1% pred 61.5% (before bronchodilator-aided inhalation), and the airway reversibility test was negative. A chest CT scan revealed irregular high-density thickening of the trachea wall, both stem bronchi, lobar, and proximal segmental bronchi, leading to tracheobronchial luminal stenosis and atelectasis of the right middle and lower lobe (Figures 2A-C and 3A-C). A bronchoscopy revealed diffuse, circumferential and irregular thickening of the mucosa of the trachea and bilateral main bronchi, with multiple nodular protuberances and relatively narrow lumens (Figure 4). The bronchial biopsies (Figure 5A-D) revealed massive amyloid deposits under the bronchial mucosa. Amyloid deposits are blue in cellulose staining, negative in Van Gieson method and were demonstrated by apple-green birefringence with polarized light with Congo red. There was no granuloma, multinucleated giant cells or other special lesions. Further tests for systemic disease and etiology, including electromyogram, serum immunofixation electrophoresis, blood and urine light chain, autoimmune examinations, T-spot, sputum culture, bone marrow puncture smear, and biopsy and flow cytology of bone marrow and so on were all negative.\nMethylprednisolone (80mg per day) concurrently with inhaled corticosteroids and bronchodilators were administered. The symptoms gradually subsided. She was discharged and put on regular inhalation of budesonide formoterol (160/4.5 ug, 2 inhaled twice per day) and oral intake of montelukast.\nFollow-up of the patient was done for 4 years. Three months after discharge, the patient had no symptoms, and the activity tolerance was not limited. A chest CT scan demonstrated the partially relieved tracheobronchial wall thickening and luminal stenosis, with bronchial inflation signs in atelectasis (Figure 2D-F and 3D-F). Reexamination of the pulmonary function showed that obstructive ventilation dysfunction was slightly improved, with FEV1/FVC 59.0%, FEV1% pred 70%. However, she suffered cough, with wheezing sound during her allergy season and got significantly better after the allergy season when budesonide/formoterol was reduced to 1 inhaled BID. Currently, she is in good condition and is under regular therapy with ICS/LABA and montelukast.",
"gender": "Female"
}
] |
PMC10619460
|
[
{
"age": 53,
"case_id": "PMC10522425_01",
"case_text": "A 53-year-old nonsmoking male patient presented for repairing the gingival recessions on the mandibular central incisors, caused by a failed bone graft surgery conducted two weeks before. The initial intraoral picture (Figure 1) showed that the two mandibular central incisors had crowns. With the crown margin as the reference, the left mandibular central incisor had a gingival recession of 7 mm in depth, and the right one showed a gingival recession of 11 mm, measured with a periodontal probe (Hu-Friedy, USA). The exposed root surfaces showed discoloration. The soft tissue apical to the recessions was tender and fragile with immature epithelialization, and many bone graft granules were seen in the soft tissue. The left and right lateral incisors also had gingival recessions of 3 mm each, measured with a periodontal probe (Hu-Friedy, USA). The defects were diagnosed as GRSF. The patient showed a generally thick periodontal phenotype.\nThe wound was allowed to heal for another 50 days before implementing the recession repair surgery (Figure 2). Compared with the initial condition, a much more mature soft tissue condition was achieved, and the depth of the gingival recessions decreased slightly. The gingival recessions for the left and right central incisors are 6 and 11 mm, respectively. There was minimal keratinized tissue apical to the recession of the left mandibular central incisor, while the keratinized tissue for the right mandibular central incisor was still absent. Dense scar deformities with embedded bone graft granules apical to the gingival recessions were observed. The patients showed no gingival inflammation or bleeding on probing around the mandibular anterior teeth.\nThe patient was instructed to irrigate with 0.2% chlorhexidine digluconate (Colgate, USA). After application of local anesthetic with 4% articaine hydrochloride (Primacaine, France), mechanical treatment of the denuded root surface was conducted with the curette (Younger-Good 7/8, Hu-Friedy, USA) (Figures 3(a) and 3(b)). For the deep recessions on the two mandibular central incisors, intrasulcular incisions were introduced carefully to the bone surface sparing the papilla area (Figure 3(c)). With the gingival recession area as the access, a full-thickness mucoperiosteal separation laterally and apically to beyond the MGJ was performed on the facial aspect of the mandibular left canine to right canine with a microsurgical elevator (PPA-ELA, Hu-Friedy, USA) (Figure 3(d)). Specially, care was taken to elevate the gingival band between the two mandibular central incisors in full thickness, but unfortunately, it teared off easily at the apical part (Figure 3(e)). The gingival band was then cautiously deepithelized to be kept under the graft later (Figure 3(f)). Papilla elevation has been suggested by many periodontists in the tunnel technique for tension-free coronal advancement of the flap, while it was not employed in this case since our clinical experience shows that such procedure frequently leads to undesirable papilla recession and black triangle formation. Afterwards, the tunnel dissection was further extended apically in partial-thickness with a 15c blade (Medicon, Germany) (Figure 3(g)) and a Modified Orban Knife (Hu-Friedy, USA). The partial-thickness flap was conducted consecutively from one side of the tunnel flap to the other side to form a completely interconnected underlying space for an easy insertion of the graft. With the relative deep flap detachment apically and the continuous severing of the periosteum when commencing partial-thickness flap detachment, the tunnel flap could be coronally advanced to a great extent without tension (Figure 3(h)). The prepared accepting site was shown in Figure 3(i), and the length of the DGG graft needed was estimated to be 30 mm (Figure 3(j)). A free gingival graft (FGG) of 30 x 10 mm2 in size and about 2-2.5 mm in thickness was harvested from the left palate (Figure 3(k)). The palatal wound was protected with a collagen matrix, which was maintained in situ with 5-0 continuous sutures. The graft was carefully deepithelialized with a new 15c blade to form DGG (Figure 3(l)). DGG was then inserted through the gingival recession site on tooth 31 and 41 into the tunnel flap easily, aligned facial to teeth 33-43, and positioned to the crown margin levels (Figures 3(m) and 3(n)). The overlying tissues were coronally positioned as far as possible under the premise of no much tension and stabilized by 5-0 interrupted sling sutures and compressive outer mattress sutures (Vicryl Rapide, Johnson & Johnson, USA). A great part of the graft, about 9 mm in height, was exposed due to the difficulty in tension release (Figures 3(o) and 3(p)). No periodontal dressing was administrated. The patient was instructed to gently rinsing with 0.2% chlorhexidine digluconate twice a day for one week.\nThe first 2-day follow-up displayed an early wound healing with minimal edema and no infection for the recipient site (Figures 4(a) and 4(b)). At day 15 after surgery, the exposed part of the graft showed ischemic necrosis with a yellowish color (Figure 4(c)). After removing the suture and the superficial necrotic tissue, it was found that the deeper layer of the graft achieved an ideal healing (Figure 4(d)). The 9-month follow-up showed a satisfactory, though not complete, root coverage (residual recession depths of 2, 2, 3, and 2 mm for the four incisors from left to right), excellent chromatic and texture tissue integration of the graft, correction of the scar deformity, great gain in keratinized tissue width and thickness, and deepening of the vestibule.\nFor the donor site, immediately after the surgery, a blood clot was formed on the palatal wound with the help of the collagen matrix (Figure 5(a)). After two days, there was minimal edema and no sign of infection, and a yellowish pseudomembrane was observed (Figure 5(b)). The patient reported of minimal pain, and no pain killer was taken. After 15 days of healing, the wound achieved a near complete closure (Figure 5(c)). The 9-month follow-up showed that the donor site healed well with minimal scar, and no discomfort was reported by the patient (Figure 5(d)).",
"gender": "Male"
}
] |
PMC10522425
|
[
{
"age": 29,
"case_id": "PMC10929514_01",
"case_text": "A 29-year-old female, who had experienced her last severe asthma attack three years earlier, requiring intubation and MV, was a regular user of beta-2 inhalers, using them approximately twice a week. She initially presented at another healthcare facility with a severe asthma exacerbation, where standard treatment for her acute asthma attack was initiated but showed a poor response, leading to intubation with oxygen administered through Bag-Valve-Mask (BVM) ventilation. She was then transferred to our emergency department. Her vital signs at admission were as follows: blood pressure 152/120 mmHg, heart rate 149 beats per minute, respiratory rate 12 breaths per minute, oxygen saturation (SO2) at 97%, and a temperature of 37 degrees Celsius. Physical examination revealed the use of accessory muscles, universal wheezing, and rhonchi in both pulmonary fields. The patient was then connected to a ventilator in pressure control mode, with settings detailed in Table 1. A chest X-ray indicated signs of hyperinflation without other abnormal findings. Initial ABG documentation revealed severe respiratory acidosis. She was subsequently transferred to the ICU for hypercapnic respiratory failure in the context of SA/NFA, with a poor response to standard care.\nUpon ICU admission, the patient required high airway pressures, resulting in barotrauma, hemodynamic decompensation, and cardiopulmonary arrest. She responded to cardiorespiratory resuscitation, and vasoactive support with norepinephrine was initiated, requiring high doses, leading to the initiation of vasopressin. Despite continuous nebulization with salbutamol, she persisted with severe bronchospasm, prompting the administration of ketamine infusion and general anesthesia with sevoflurane. A chest X-ray revealed a right pneumothorax, which was treated with thoracostomy, resulting in a secondary bronchopleural fistula of 50% (Figure 2). Additionally, ABG results indicated further respiratory acidosis, requiring high ventilatory parameters with a MP of 14 joules/min. VV ECMO was initiated. Blood gases and ventilatory parameters slightly improved during the first 12 hours of ECMO, with a decrease in MP of 61.5% (Table 1). The patient was on ECMO for a total of 11 days (Table 2). However, she experienced several pulmonary, hematologic, renal, and infectious complications and died 13 days after her ICU admission (Table 3). Her ventilator-free days (VFD) score was 0.",
"gender": "Female"
},
{
"age": 33,
"case_id": "PMC10929514_02",
"case_text": "A 33-year-old woman, who had experienced her last acute asthma attack a month earlier, sought medical attention at a primary health center due to a progressive shortness of breath and wheezing that did not improve with inhalation therapy with beta-2 agonist and anticholinergic inhalers at home. Initially, she was prescribed an IV steroid regimen and inhalation therapy with short-acting beta-2 agonist for an acute asthmatic episode, along with non-invasive mechanical ventilation (NIMV), with a poor response. Consequently, she was referred to our institution as a life-threatening emergency. Upon admission, her vital signs were as follows: blood pressure 146/81 mmHg, heart rate 130 beats per minute, respiratory rate 32 breaths per minute, SO2 at 96%, and a temperature of 36 degrees Celsius. Physical examination revealed the use of accessory muscles, decreased breath sounds, and universal expiratory wheezing. Standard therapy was initiated, and a chest X-ray indicated air trapping without other abnormal findings. Initial ABG analysis showed respiratory acidosis. However, the patient's condition worsened, and she became desaturated and fatigued, requiring intubation and the initiation of MV for hypercapnic respiratory failure.\nVentilating the patient proved challenging due to high airway resistance, leading to the administration of neuromuscular blockade with vecuronium and optimization of sedation with a ketamine infusion. A blood sample revealed an elevated white blood cell count, suggesting pneumonia, so antibiotics were initiated. The patient was then transferred to the ICU, where standard medical care continued, and nebulized adrenaline was added to the management. Nevertheless, her oxygen saturation continued to decline (SO2 84%), and she became hypotensive (blood pressure 80/40 mmHg), with persistently high airway resistance. Vasoactive support and general anesthesia with sevoflurane were introduced. New ABG revealed mixed acidosis and severe hypercapnia, which proved refractory to management, with a MP of 7.2 J/ min, prompting the initiation of ECMO (Figure 3). All microbiologic cultures and acute-phase reactants yielded negative results, and bronchoscopy revealed no remarkable findings, leading to the suspension of antibiotics. ABG values improved, as did ventilatory parameters, with a 53% decrease in MP (Table 1). Five days after ECMO initiation, the patient was successfully weaned from MV, achieving a VFD score of 23. She remained on ECMO for one more day, totaling 6 days (Table 2). A transthoracic echocardiogram reported moderate ventricular dysfunction with no other complications. She was discharged after a total of 11 days (Table 3) (Figure 4).",
"gender": "Female"
},
{
"age": 53,
"case_id": "PMC10929514_03",
"case_text": "A 53-year-old woman sought care at an external institution due to 3 days of worsening dyspnea and a dry cough. She presented with tachypnea, use of accessory muscles, and generalized wheezing in both lung fields. Inhalation therapy with a beta-2 agonist and an IV steroid regimen was initiated, but the patient had a poor response, leading to intubation and the initiation of MV. Subsequently, she was transferred to our institution. Upon admission, her vital signs were as follows: blood pressure 135/75 mmHg, heart rate 120 beats per minute, respiratory rate 35 breaths per minute, SO2 at 98%, and a temperature of 36 degrees Celsius. Physical examination revealed decreased breath sounds and wheezing. Standard care for SA was initiated and MV was continued. A chest X-ray showed no remarkable findings besides air trapping7, and the initial ABG analysis indicated respiratory acidosis.\nDespite continuous salbutamol nebulization and ketamine infusion, the patient continued to have a poor response, experiencing high airway pressures that hindered adequate ventilation. Respiratory acidosis worsened, and MP reached 9.5 J/min (Table 1). Consequently, she was transferred to the ICU, where the medical team determined that she would benefit from VV ECMO. After 12 hours of ECMO, the patient achieved normocapnia, had adequate oxygenation, and experienced a 79% decrease in MP. A sputum chain polymerase reaction was positive for rhinovirus/enterovirus, while her white blood cell count was normal, and acute phase reactants were negative. She was weaned from MV two days later with a VFD score of 26. Her ECMO support lasted for a total of 4 days (Table 2), and she did not encounter any complications. The patient was discharged after a total of 9 days (Table 3).",
"gender": "Female"
},
{
"age": 55,
"case_id": "PMC10929514_04",
"case_text": "A 55-year-old female patient consulted an external institution due to progressive dyspnea. She was tachypneic, requiring the use of accessory muscles, and her SO2 dropped below 80% despite management with NIMV, terbutaline and dexamethasone nebulizations, and IV steroid. The patient was subsequently transferred to our institution with the following vital signs: blood pressure 153/93 mmHg, heart rate 126 beats per minute, respiratory rate 27 breaths per minute, SO2 at 93%, and a temperature of 35.7 degrees Celsius. She displayed no neurological response. Intubation was performed and MV was initiated along with standard care. A chest X-ray revealed air trapping, and the initial ABG analysis indicated respiratory acidosis. She was then transferred to the ICU, where management continued, adding neuromuscular blockade, ketamine, and prophylactic antibiotics due to the possibility of bronchoaspiration. Vasoactive support was also initiated.\nDespite these interventions, the patient continued to experience severe bronchospasm, respiratory acidosis, and high ventilatory parameters, with a MP of 11 J/min (Table 2). ECMO was considered, but during the procedure, the patient suffered cardiac tamponade, requiring drainage through a pericardial window. Following the procedure, anisocoria was documented but resolved within 24 hours, suggesting a transient ischemic attack. A cerebral computerized tomography (CT) scan yielded unremarkable results (Table 3). Gas exchange began to improve, as did ventilatory parameters, with a decrease in MP of 82.8% (Table 1). An attempt to extubate was made 3 days after ECMO initiation, but the patient exhibited agitation, dyspnea, and severe bronchospasm, requiring reintubation, despite normal ABG. Two days later, a tracheostomy was performed due to persistent bronchospasm. ECMO support continued for a total of 6 days (Table 2). After 18 days in the ICU, when there was no evidence of bronchospasm and her oxygenation was adequate, she was transferred to the intermediate care unit to continue the weaning process from MV and undergo pulmonary rehabilitation. The patient experienced no other complications and was discharged after a total of 19 days with a VFD score of 9 (Table 3) (Figure 5).",
"gender": "Female"
},
{
"age": 17,
"case_id": "PMC10929514_05",
"case_text": "A 17-year-old female patient arrived at an external primary care center with a two-hour history of worsening dyspnea and a dry cough. Initial treatment included nebulizations with a short-acting beta-2 agonist, IV steroid, and magnesium sulfate. Despite these interventions, the patient did not respond well and her respiratory condition continued to deteriorate, necessitating an urgent transfer to our institution. Upon admission, she was in respiratory failure with altered sensorium, requiring immediate intubation and MV. Her vital signs were as follows: blood pressure 137/84 mmHg, heart rate 101 beats per minute, respiratory rate 40 breaths per minute, SO2 98%, and temperature 36.7 degrees Celsius. During the physical examination, she exhibited the use of accessory muscles, basal bilateral hypoventilation, and universal inspiratory and expiratory wheezing. Standard management was initiated. Chest X-ray revealed air trapping, and the first ABG showed severe respiratory acidosis. Furthermore, high airway pressures and a MP of 20.2 J/min were documented, leading to the initiation of ECMO. The patient exhibited rapid improvement in ABG (Table 1), with a subsequent decrease in MP by 89.2%. After two days, she was successfully extubated, achieving a VFD score of 26. ECMO support continued for a total of 8 days (Table 2). The patient experienced no complications and was discharged after 8 days (Table 3).",
"gender": "Female"
},
{
"age": 49,
"case_id": "PMC10929514_06",
"case_text": "A 49-year-old male patient sought medical attention at a peripheral primary healthcare facility due to a gradual onset of dyspnea, bronchospasm, and cyanosis. Initial treatment consisted of inhalation therapy with beta-2 agonist and anticholinergic inhalers but yielded a limited response, prompting the need for intubation and the subsequent transfer to our institution. Upon admission, the patient exhibited the following vital signs: blood pressure 196/91 mmHg, heart rate 125 beats per minute, respiratory rate 22 breaths per minute, SO2 73%, and a temperature of 36 degrees Celsius. During the physical examination, diffuse wheezing was observed. The orotracheal tube was changed from 7.0 to 8.0, and MV was initiated in conjunction with standard therapy. A chest X-ray showed hyperinflation, with no other apparent findings. The patient showed no response to initial management, presenting severe respiratory acidosis, high airway resistance, and a MP of 15.6 J/min. Consequently, he was promptly transferred to the operating room, where ECMO was initiated, and vasoactive support was added. After 12 hours, the patient exhibited mild improvement but remained hypoxemic. MP had decreased by 74.4% (Table 1). After 2 days, he was extubated but experienced desaturation without hemodynamic instability or an increase in respiratory effort. Therefore, NIMV was continued, resulting in a VFD score of 26. The patient also exhibited symptoms of fever and hemoptysis, which prompted the collection of cultures and the initiation of antibiotic treatment. Given the suspicion of pneumonia, a chest X-ray was requested, which revealed a right basal consolidation. Additionally, a bronchoscopy was performed, revealing the presence of a foreign object in the right mainstem bronchus, which was subsequently extracted. It was a 12 cm long, hollow plastic fragment, that resembled an aspiration probe. While the object's exact origin could not be definitively determined, there was suspicion that it may have been introduced at the primary care health center during respiratory therapy or intubation, as this type of probe is not used in our institution. Following this procedure, ABG values returned to normal, and the airway obstruction resolved. However, the patient developed moderate thrombocytopenia and hemolysis. Considering the risk-benefit relationship, ECMO was removed after 5 days (Table 2). The patient experienced no further complications and was discharged after a total of 11 days (Table 3) (Figure 6).",
"gender": "Male"
}
] |
PMC10929514
|
[
{
"age": 16,
"case_id": "PMC10751564_01",
"case_text": "A 16-year-old Japanese high school student with no medical history or prior medication, whose father had been diagnosed with idiopathic DCM, noticed dyspnoea on exertion 2 months before being transferred to our hospital. He went to a hospital and the echocardiogram revealed an enlarged and diffusely hypokinetic left ventricle, with a left ventricular end-diastolic diameter (LVDd) of 72 mm, end-diastolic volume (LVEDV) of 269 mL, and left ventricular ejection fraction (LVEF) of 18%. Enalapril, spironolactone, and azosemide did not improve his symptoms, so he was admitted to the hospital a month before transfer. His heart rate (HR) and blood pressure (BP) were 118/min and 96/55 mmHg, respectively. A right heart catheterization was performed, which revealed mean pulmonary artery wedge pressure (mPAWP) of 33 mmHg, pulmonary artery pressure (PAP) of 51/32(40) mmHg, mean right atrial pressure (mRAP) of 20 mmHg, the pulmonary artery O2 saturation (SvO2) of 41.3%, and cardiac index (CI) of 1.44 L/min/m2. Coronary angiography showed no coronary artery disease, and endomyocardial biopsy showed mild interstitial fibrosis without leucocyte infiltration. Cardiac magnetic resonance imaging, including gadolinium enhancement, revealed no abnormal signals in the myocardium. Blood test results, including troponin T, thyroid function, and vitamin B1, did not suggest secondary sinus tachycardia or cardiomyopathy, and he was diagnosed with idiopathic DCM.\nDuring a month's hospital stay, carvedilol was introduced at 0.625 mg once daily and titration to 1.25 mg once daily under intravenous administration of dobutamine at 1 mug/kg/min and milrinone at 0.125 mug/kg/min caused lassitude and nausea. The carvedilol dose was maintained at 0.625 mg daily. The second attempt to increase the carvedilol dose to 1.25 mg once daily with intravenous dobutamine at 2 mug/kg/min and milrinone at 0.25 mug/kg/min again caused lassitude and nausea. Carvedilol was abandoned. Right heart catheterization under intravenous administration of dobutamine and milrinone showed haemodynamics consistent with cardiogenic shock: HR, 125/min; arterial pressure (AP), 97/52(67) mmHg; mPAWP, 33 mmHg; PAP, 42/30(35) mmHg; mRAP, 19 mmHg; SvO2, 35.4%; CI, 1.40 L/min/m2; lactate 2.61 mmol/L (normal range; 0.44-1.78 mmol/L). An IABP was introduced, and haemodynamics improved: HR, 114/min; AP, 88/64(76) mmHg; PAP, 30/20(24) mmHg; mPAWP, not measured; mRAP, 13 mmHg; SvO2, 59.0%; and CI, 1.70 L/min/m2; lactate 1.46 mmol/L. Three days later, he was transferred to our hospital.\n Figure 1A shows the haemodynamics after transfer: HR, 135/min; AP, 92/56(74) mmHg under IABP; mPAWP, 24 mmHg; PAP, 40/25(31) mmHg; mRAP, 10 mmHg; SvO2, 55.4%; and CI, 2.18 L/min/m2. Arterial pressure waves indicated pulsus alternans (Figure 1A and B, white arrows). Precordial pulsations and a shift of the apex to the left were apparent. No heart murmur or peripheral oedema was detected. Chest radiography and electrocardiogram detected marked cardiomegaly, sinus tachycardia, and mild ST-T abnormalities without T-wave alternans (Figure 2A and B). Echocardiographic findings did not improve, with the exception of valve regurgitation [LVDd, 76 mm; LVEDV, 304 mL; LVEF, 17%; mild-to-moderate mitral regurgitation (MR); and mild-to-moderate tricuspid regurgitation (TR)].\nWe considered his excessive tachycardia should be controlled; however, the negative inotropic effect of a beta-blocker should be avoided. Ivabradine was introduced at a dose of 2.5 mg twice a day. Two days later, his HR decreased to ~100/min, without decreasing SvO2 or CI, and PAWP decreased without change in diuretics (Figure 3), as follows: HR, 107/min; AP, 98/59(78) mmHg; mPAWP, 17 mmHg; PAP, 40/22(29) mmHg; mRAP, 9 mmHg; SvO2, 65.3%; and CI, 2.84 L/min/m2. Furthermore, arterial waveforms revealed the disappearance of pulsus alternans (Figure 1C and D). On Day 4, pimobendan was added, with the expectation of additional haemodynamic improvement through a calcium-sensitising effect, and the dose of ivabradine was increased. Carvedilol was reintroduced on Day 12 and increased to 1.25 mg/day on Day 14. The IABP was removed on Day 19. However, he did not complain of dyspnoea. For approximately one month, he experienced orthostatic hypotension and nocturnal hypotension with polyuria despite discontinuation of diuretics, requiring intravenous infusion. Therefore, enalapril was not replaced with angiotensin receptor-neprilysin inhibitor, and sodium-glucose cotransporter-2 inhibitor was not added. On Day 55, the right heart catheterization data were as follows: HR, 73/min; AP, 105/67(79) mmHg; mPAWP, 5 mmHg; PAP, 16/5(9) mmHg; mRAP, 1 mmHg; SvO2, 61.4%; and CI, 2.03 L/min/m2. Endomyocardial biopsy of the right ventricle on Day 55 showed milder myocardial enlargement and vacuolation (Figure 4C and D) compared to the biopsy done on the left ventricle at the previous hospital 31 days before transfer (Figure 4A and B). The dose of carvedilol was titrated gradually and reached 5 mg/day on Day 69. Then, dobutamine and milrinone were withdrawn on Days 91 and 103, respectively. On Day 112, echocardiography revealed left ventricular reverse remodelling (LVDd, 53 mm; LVEDV, 132 mL; LVEF, 44%; mild MR; and mild TR) (see Supplementary material online, Video S1). His haemodynamics improved further on Day 119: HR, 55/min; BP, 113/67 mmHg; mPAWP, 2 mmHg; PAP, 14/3(8) mmHg; mRAP, 0 mmHg; SvO2, 74.2%; and CI, 2.67 L/min/m2. Therefore, he was discharged from our hospital, returned to school, and was prescribed carvedilol 5 mg/day, ivabradine 10 mg/day, enalapril maleate 2.5 mg/day, spironolactone 25 mg/day, and pimobendan 5 mg/day. The dose of carvedilol reached 20 mg/day four months later. One year after discharge, LVDd, LVEDV, and LVEF were 54 mm, 138 mL, and 54%, respectively, MR was not detected, and TR was mild.",
"gender": "Male"
}
] |
PMC10751564
|
[
{
"age": 23,
"case_id": "PMC10798166_01",
"case_text": "A 23-year-old male patient presented at the otorhinolaryngology department with complaints of a recurrent plop sound in the left ear. Physical examination was normal. Pure tone audiometry showed a slight conductive hearing loss at the low frequencies. Non-contrast computed tomography (CT) of the left temporal bone was performed, showing an enlargement of the tympanic segment of the fallopian canal (Figure 1A). A closer look to the scan revealed a small vessel running over the middle ear promontory which led to the diagnosis of a PSA (Figure 2). In addition, CT demonstrated an agenesis of the left foramen spinosum (Figure 3). A magnetic resonance (MR) scan was scheduled for further evaluation. Intense contrast enhancement surrounding the tympanic segment of the facial nerve was noted on gadolinium-enhanced spin echo based T1-weighted images, indicating congestion of the venous plexus surrounding the embedded facial nerve (Figure 1B). Right temporal bone imaging was normal. No treatment was scheduled.",
"gender": "Male"
}
] |
PMC10798166
|
[
{
"age": 54,
"case_id": "PMC10823316_01",
"case_text": "A 54-year-old male presented to the emergency department with sudden onset of palpitations. They appeared at rest without prodromal symptoms and lasted several hours. The patient described shorter self-resolving episodes in the past. His cognitive status was impaired following a cerebrovascular accident (CVA) and he was confined to a wheelchair after bilateral below knee amputation as a complication of diabetes and peripheral vascular disease (PVD). Past history included drug abuse and chronic obstructive pulmonary disease (COPD).\nVitals at presentation were within normal limits except for pulse rate of 145 bpm. Examination revealed no abnormalities aside from the tachycardia. Electrocardiogram (ECG, Fig. 1) showed a regular narrow complex tachycardia with retrograde P waves visible between the QRS and T wave (best at lead V1), resulting in a short-RP interval, measured at 95 milliseconds, suggestive of AVNRT of the typical form. There were multiple monomorphic premature ventricular contractions (PVCs).\nNext, various VM were attempted. The patient was asked to take a deep breath and blow out against a closed glottis, which he was unable to perform effectively. He was then instructed to blow into the tip of a 10 ml syringe after forced expiration, once again ineffectively due to lack of cooperation. Taking his history into account, namely COPD, as well as the fact he repetitively declined the administration of medications, we decided to refrain from adenosine administration. CSM was contraindicated as there was a history of CVA.\nSimultaneously, the nursing staff obtained his core temperature using a rectal thermometer in order to verify the absence of fever. During the measurement he immediately converted into sinus rhythm (Fig. 2). No AV nodal blocking agents or antiarrhythmic drugs were given prior to the conversion. The patient was reluctant to continue medical therapy or to consider to undergo an ablation procedure.\nInterestingly, a month later he was admitted with COPD exacerbation and had two additional episodes of narrow-complex tachycardia, terminated in a similar fashion. The patient was then lost to follow-up for several months.",
"gender": "Male"
}
] |
PMC10823316
|
[
{
"age": 78,
"case_id": "PMC10801000_01",
"case_text": "A 78-year-old man with a history of ischemic heart disease, reduced LV ejection fraction (LVEF), paroxysmal atrial fibrillation (PAF), VT, and pulmonary emphysema was admitted to our hospital with acute decompensated heart failure. The patient had undergone RFA for paroxysmal atrial fibrillation 3 years prior and endocardial RFA for VT 4 and 2 years prior at another hospital, which failed to eliminate the VT. Implantable cardioverter-defibrillator implantation had also been performed 4 years prior. Intravenous inotropic agents, intravenous vasodilators, and diuretics helped improve the pulmonary congestion; however, hemodynamically stable VT was still frequently observed after treatment for heart failure.\nA 24-hour Holter monitoring system revealed a 30% premature ventricular contraction (PVC) burden, which was suspected to cause the observed LV dysfunction; thus, RFA was performed. This procedure was performed after informed consent was obtained for all procedures, including chemical ablation using ethanol. All procedures were approved by the institutional review board.\nElectroanatomical mapping was performed using a 3-dimensional mapping system (EnSite System; St. Jude Medical, Inc, St Paul, MN). VT was frequently observed at the start of the examination. Additionally, a 12-lead electrocardiogram exhibited VT with a right bundle branch block and inferior axis morphology, QS pattern in lead I, a maximum deflection index of 0.71, intrinsicoid deflection time of 102 ms, shortest RS complex of 118 ms, and pseudo-delta wave of 44 ms (Figure 1A). A 2.7F over-the-wire (OTW)-type decapolar catheter (EPstar FIX AIV; Japan Lifeline, Tokyo, Japan) was advanced into the anterior interventricular vein (AIV) via the great cardiac vein (GCV) through the superior vena cava (Figure 1B). The earliest ventricular activation during VT preceded the QRS onset by 28 ms at the distal tip of the decapolar catheter (Figure 1C). The tip of the ablation catheter was advanced to the basal anterior segment of the left ventricle near the decapolar catheter (Figure 2A).\nActivation mapping using the HD GridTM catheter (Abbott Medical, Abbott Park, IL) demonstrated a centrifugal activation pattern, with the earliest activation close to the earliest decapolar catheter (Figure 2B). The endocardial potentials recorded close to the earliest decapolar catheter preceded the QRS onset by 34 ms and also showed QS morphology in the unipolar electrogram (Figure 2C). We then delivered radiofrequency energy to the earliest site by using an irrigation catheter with a contact force sensor (TactiCath; St. Jude Medical, Inc), which could transiently terminate the sustained VT, albeit the VT could not be completely eliminated (Figure 2D). Ice-cold saline was then infused through the infusion lumen of the decapolar catheter to decrease the frequency of PVC (Figure 2E), which suggested that the critical substrates of the VT were located close to the perfusion area.\nPreprocedural computed tomography (CT) demonstrated marked gastric dilatation, which was associated with the risk of stomach injury during pericardiocentesis; therefore, epicardial ablation was not performed. Based on this, chemical ablation for the refractory VT was performed. Retrograde coronary venography of the GCV showed collateral flow to the AIV overlying the LV summit (Figure 3A and 3B). A 6F internal mammary artery (IMA) guiding catheter (GC) (Mach1; Boston Scientific Corporation, Marlborough, MA) was inserted into the coronary sinus via the right internal jugular vein. Although a Cruise guidewire (Asahi Intec, Tokyo, Japan) guided through the 6F IMA GC could not be passed through the collateral vessel from the GCV in an antegrade manner, the guidewire was retrogradely proceeded to the collateral vessel from the AIV and eventually into the IMA GC through the GCV (Figure 3C and 3D). Thereafter, a Mizuki microcatheter (Kaneka, Osaka, Japan) was advanced OTW in a retrograde fashion into the IMA GC. Subsequently, the Cruise guidewire was removed and exchanged for a 330 cm RG3 guidewire (Asahi Intec) to thread through the Y-connector of the IMA GC. The RG3 guidewire was manually engaged into an introducer needle antegradely inserted into the Y-connector of the hemostatic system (Figure 3E).\nAfter the RG3 guidewire was successfully externalized, the distal tip of the retrograde microcatheter was pulled back to the AIV and another Mizuki microcatheter was advanced over the RG3 guidewire to the collateral vessel in an antegrade manner. The RG3 guidewire and retrograde microcatheter were removed, and a Cruise guidewire was advanced through the antegrade microcatheter from the GCV to the collateral vessel. Another Cruise guidewire was inserted through an 8.5F sheath (LAMP45; St. Jude Medical, Inc) from the femoral vein and advanced to the collateral vessel via the AIV (Figure 3F). Two 2.0 x 8.0-mm OTW balloons (Emerge OTW; Boston Scientific Corporation) were inserted into the collateral vessel via the IMA GC and an 8.5F sheath (Figure 3G). The proximal and distal portions of the collateral vessel were occluded using 2 2.0 x 8.0-mm OTW balloons inflated to 4 atm. Thereafter, 1.0 mL of contrast medium was injected into the proximal balloon lumen. After confirmation of contrast stagnation in the occluded area, 2.0 mL of 98% ethanol was injected over 360 seconds (Figure 3H). Each balloon was moved 8 mm 3 times, both distally and proximally. Ethanol was injected at each site, and target PVCs were eliminated (Figure 3I).\nAfter the procedure, the monomorphic PVCs were resolved, no VT was initiated under intravenous isoproterenol infusion, and creatine kinase was not elevated on the following day. The patient was free from VT episodes for approximately 10 months during the follow-up period after ablation, and LVEF improvement was confirmed.",
"gender": "Male"
}
] |
PMC10801000
|
[
{
"age": 27,
"case_id": "PMC11333137_01",
"case_text": "A 27-year-old female patient consulted the department of ENT for a swelling of the palate that had been evolving for 3 years, progressively increasing in volume without any troublesome symptoms.\nLocal examination revealed a hard, ovoid, painless mass of the palate with a firm consistency, approximately 3 cm long, with a healthy mucosa. There were no lymph nodes. The patient's general condition was good.\nA CT scan revealed a dense, rounded mass located on the hard palate (Figure 1). There was no bone destruction. We did not perform fine needle aspiration. Because of the absence of clinical signs of malignancy, we opted for surgery.\nThe palate mass was removed under general anaesthesia (Figures 2 and 3). Postoperative follow-up was normal. Histology of the operative specimen showed a pleomorphic adenoma of the palate (Figure 4).",
"gender": "Female"
}
] |
PMC11333137
|
[
{
"age": 30,
"case_id": "PMC11260047_01",
"case_text": "Patient information: a 30-year-old man with no previous medical or surgical history was involved in a road accident involving a high-speed collision between two trucks.\nClinical findings: the patient was hemodynamically and respiratorily stable. The primary investigation ruled out circulatory, respiratory and neurological problems. The position of the right lower limb was adducted and internally rotated. The position of the left lower limb was external rotation and abduction. The patient had no sensory-motor deficits and normal pulses in both lower limbs.\nDiagnostic assessment: X-rays of the pelvis revealed asymmetrical bilateral fracture-luxations of the hips, with right superior-posterior and left anteroinferior dislocation (Figure 1).\nTherapeutic intervention: the patient was admitted to the outpatient department and transferred within 6 hours to the operating room. Under general anaesthesia, a closed reduction was performed within 6 hours of trauma for both hip dislocations at the same time. Simultaneously: for the right hip dislocation, the reduction maneuver was performed on a hard surface, with counter-pressure on the anterosuperior iliac spines and traction in line with the femur, with the hip and knee flexed at 90 degrees; a clicking sound is audible during reduction. For the left hip, traction was applied along the axis of the deformity, flexing the hip to 90 degrees with an external rotation, with an audible click indicating reduction. After reduction, both hips were stable over the full range of motion distal neurovascular status. Post-reduction radiographs (Figure 2) and CT scans (Figure 3) demonstrated adequate of both hips. The patient was maintained in skin traction for both hips for 6 weeks.\nPatient's perspective: the patient received analgesics and anti-thrombotic medication during his stay. He was discharged in the 3rd week with the onset of soft callus construction.\nInformed consent: the patient gives his informed consent.",
"gender": "Male"
}
] |
PMC11260047
|
[
{
"age": 27,
"case_id": "PMC11033416_01",
"case_text": "A 27-year-old female lawyer was experiencing visual scintillating scotomas and subtle chronic headaches for the last 2 years. The patient had no comorbidities, no family history of cancer syndromes, and did not use continuous medication. An ophthalmologic investigation revealed her condition to be bilateral papilledema and the patient was referred to a neurologist. The initial computed tomographic (CT) and magnetic resonance imaging (MRI) scans were normal and raised the possibility of pseudotumor cerebri, which required supplemental analysis with digital subtracted angiography (DSA). In this examination, a dural arteriovenous fistula (dAVF) was detected in the posterior fossa, which was successfully embolized, resulting in occlusion without complications. The patient was discharged with no acquired deficit (mRS 1).\nAfter 1 year, the headaches reoccurred, and the patient was readmitted. In DSA, a new and highly complex dAVF was detected in the supratentorial region, affecting meningeal branches of the external carotid artery, the meningohypophyseal trunk, the ascending pharyngeal and occipital arteries, and both transverse sinuses near the Torcula and superficial cortical veins (Figure 1). Therefore, she underwent a new session of embolization without any complications and was discharged without headaches (mRS 1).\nAgain, 1 month later, she was readmitted for the third time due to the emergence of a new symptom: tinnitus. A new DSA procedure revealed the presence of a new cortical dAVF in the patient, which was treated with another session of embolization without any complications. The patient was discharged and recovered from the tinnitus but continued to experience a mild headache. As the dAVF pattern changed and symptoms worsened over time, the patient underwent a fourth session of embolization after 3 months and a fifth session after 6 months for the same reasons.\nFollowing the completion of the fifth session, the magnetic resonance angiography (MRA) analysis revealed the continued presence of multiple and intricate dAVFs. These dAVFs were supplied by arteries stemming from the right middle meningeal artery, right internal maxillary artery, and occipital artery (Figure 2). Additionally, these dAVFs were directly linked to the right transverse, sigmoid sinus, straight sinus, superior petrosal sinus, and superior sagittal sinus, all of which showed arterial flow. Furthermore, the deep venous drainage, medullary, and cortical veins exhibited signs of venous congestion and indirect indications of brain swelling.\nTherefore, the patient underwent a ventriculoperitoneal (VP) shunt with an initial threshold of 150 mmHg. The surgery was uneventful, and the patient was discharged with minor symptoms.\nThe patient suffered a generalized seizure and fell into a coma during a routine neuroimaging check-up 2 months later. New CT scans revealed a small infarct in the left frontal region with indications of hemorrhagic transformation. MR angiography and venography tests showed tortuous and partial thrombosis in the following veins: the right basal vein of Rosenthal, the sylvian superficial vein, the frontobasal vein, and the right internal jugular bulb. Despite the VP shunt being in the correct position, there were still signs of increased intracranial pressure (ICP).\nThe patient was kept under sedation for neuroprotection and presented with multiple neurological complications secondary to the mass cerebral venous thrombosis. Despite prolonged periods of anticoagulation therapy, she remained in a comatose condition. A new MRI evidenced the persistence of extensive brain swelling and ischemic parenchymal injury. Given the aggressiveness of the dAVFs and the poor outcome, the patient underwent rheumatologic, immunologic, hematologic, and genetic investigations. The first of these investigations was unremarkable. However, the genetic exome sequencing of her blood sample revealed a pathological variant in the PTEN gene compatible to Cowden syndrome. The patient underwent a full-body screening, which did not reveal any tumors or other vascular lesions in other systems.\nThe patient's family provided informed consent to publish this case, which was also authorized by the hospital's ethics committee.",
"gender": "Female"
}
] |
PMC11033416
|
[
{
"age": 16,
"case_id": "PMC11104766_01",
"case_text": "He was the first child of a healthy, non-consanguineous couple. His mother was 16 years old and had no relevant previous history besides an atrial septal defect surgically corrected three years before the pregnancy. Due to her history of cardiopathy, her pregnancy was considered high-risk. She followed nine prenatal appointments, and her serologic tests were all negative for syphilis, HIV, hepatitis B, and she was susceptible to toxoplasmosis.",
"gender": "Female"
}
] |
PMC11104766
|
[
{
"age": 50,
"case_id": "PMC10586726_01",
"case_text": "In May 2022, a male patient, aged 50, sought medical evaluation. He had a documented history of hepatitis B infection and liver cirrhosis. His height was 169 cm, weight was 80 kg, and he belonged to Child-Pugh Liver Function Class A, indicating a state of moderate cirrhosis. MRI examination revealed a lesion of approximately 1098cm in size in the right liver lobe segments S7 and S6, as well as a main portal vein thrombus (baseline, Figure 1 ). The patient had an Eastern Cooperative Oncology Group Performance Status (ECOG-PS) of 1 and a Child-Pugh score of 5. The levels of protein induced by vitamin K absence-II (PIVKA-II) and alpha-fetoprotein (AFP) were 27603 ng/ml and 4.5 ng/ml, respectively.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10586726_02",
"case_text": "After a multidisciplinary discussion, it was deemed that the patient was not suitable for radical surgical resection. The initial treatment plan was a one-cycle combination of PD-1 (Camrelizumab) (Jiangsu Hengrui Medicine Co. Ltd., Jiangsu, China) and lenvatinib (Eisai Co., Ltd., Tokyo, Japan). PD-1 was given at a fixed dose of 200 mg every 3 weeks intravenously, and lenvatinib was administered at a dose of 8mg/day. After three weeks, the patient's tumor was stable according to mRECIST ( Figure 1 , 1 month) and the trends in PIVKA-II level were shown in Figure 2 . The patient was treated with the same regimen for one more cycle, and the response was evaluated as a partial response (PR) ( Figure 1 , 2 months). Then, a single session of TACE treatment was conducted, followed by a continued regimen of immunotherapy and targeted therapy. The procedure involved percutaneous puncture of the femoral artery to facilitate angiography, specifically targeting the celiac and hepatic arteries. This examination revealed a complex, tortuous hepatic artery morphology, accompanied by the presence of irregular patchy and nodular staining patterns in the right hepatic lobe, along with notable atrophy of the right hepatic artery within the portal vein. The TACE treatment was administered using a catheter, with a dose of 6 mg. Additionally, a microcatheter was strategically placed into the right hepatic artery branch to perform embolization therapy, which entailed the infusion of a mixture containing 6 ml of lipiodol and gelatin sponge particles ranging from 560 to 710mum in size. Subsequent angiography demonstrated a significant reduction in tumor staining after the embolization procedure.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC10586726_03",
"case_text": "Four weeks later, the patient was evaluated as a PR ( Figure 1 , 3 months). However, the patient experienced discomforts such as abdominal distension and pain after this treatment and was readmitted to the hospital. CT examination showed that the main portal vein was occluded by an unclear thrombus ( Figure 1 , 4 months), which was believed to be a blood clot based on an MDT discussion. Surgical removal of the thrombus was recommended, and the patient agreed to the surgery. On August 15, 2022, the patient underwent a right hepatectomy with portal vein thrombus removal and cholecystectomy under general anesthesia ( Figure 3A, B ). The patient recovered smoothly after surgery. Pathology examination revealed moderately differentiated hepatocellular carcinoma (grade 2) with a large amount of necrosis, no microvascular invasion, and satellite nodules in the surrounding liver with fatty degeneration. The gallbladder showed chronic inflammation, and the main portal vein thrombus contained a large number of red blood cells and a few lymphocytes. Immunohistochemistry showed Glypican-3 (-), Hepatocyte (+), CK7 (-), CK19 (-), CD34 (vascular +), and Ki67 (clone: SP6) (Li: 20%) ( Figure 3C, D ). Supplementary immunohistochemistry experiments were performed, yielding further pathological insights. These findings confirm the existence of moderately differentiated hepatocellular carcinoma (Grade 2) characterized by extensive necrosis within the liver tumor and bile duct resection specimen after liver cancer treatment. Immunohistochemical analysis demonstrates the presence of CD8 (partial lymphocytes+), and B-catenin (predominantly cytoplasmic+ in cancer cells; predominantly membranous+ in surrounding liver tissue), with a PD-L1 result of CPS=15 ( Figure 4 ). The patient was treated with the original regimen for six months after surgery and has been without recurrence for over 34 months ( Figure 1 , 34 months). Throughout treatment, the patient predominantly experienced adverse reactions characterized by abdominal distension and general fatigue. Nevertheless, these symptoms ameliorated following appropriate symptomatic intervention.",
"gender": "Unknown"
}
] |
PMC10586726
|
[
{
"age": 40,
"case_id": "PMC10637367_01",
"case_text": "The incidence rate and prevalence of COPD are both high, with an increasing trend and heavy disease burden for COPD all over the world, and chronic respiratory diseases have been the third leading cause of death, mostly due to COPD. In China, the prevalence rate of COPD can reach 8.6%, and is higher than 13% among people over 40 years old. Although the disease-associated burden decreased in the past 30 years, COPD remains a critical public health problem in China.\nIn recent years, a series of studies have been performed and gratifying results have been obtained for COPD. Its occurrence and development have been delayed to a certain extent; however, although the constantly updated treatment measures help to improve the clinical symptoms and delay disease progression, most COPD patients are still undergoing rapid progression, especially for severe and very severe patients, and AEs are still critical events, causing decreased pulmonary function, increased hospitalizations, and worse prognoses such as death. Reducing AEs remains a key target for severe and very severe COPD patients.\nInflammation is an important pathogenesis for COPD, and corticosteroids are an important treatment option. However, oral corticosteroids increase mortality in stable COPD patients. Therefore, inhalation corticosteroids have garnered increased attention and are widely used. beta2-agonist (LABA) and/or muscarinic antagonist (LAMA) and other combinations are important treatment options for COPD. Triple therapy has also been considered to be an effective treatment for severe and very severe COPD to improve pulmonary function. However, triple therapy cannot effectively reduce AEs and mortality, and the prognosis may not improve. New treatments to improve efficacy are urgently required.\nThrough long-term clinical practice and experience, traditional Chinese medicine (TCM) has proven to have good clinical efficacy and advantages in the treatment of COPD to improve symptoms, reduce AEs, and improve quality of life. However, there is a lack of uniformity on the prescription thereof, and evidence-based studies are insufficient. Consequently, we performed a series of studies of TCM for COPD.\nThe core TCM pathogenesis is deficiency of vital energy and accumulated damage. Deficiency is the root cause, with manifestation of phlegm and blood stasis. For severe and very severe COPD, treatments should focus on strengthening the vital energy (invigorating the lungs and kidneys, supplemented by strengthening the spleen), and assist in reducing phlegm and promoting blood circulation. We, therefore, previously established TCM treatment schemes and prescriptions for different stages and grades of COPD, which were then optimized through clinical practice and basic studies. Here, we aimed to formulate a Bu-fei Yi-shen granule (BYG) for the treatment of COPD and conduct a randomized controlled trial to provide critical references for the treatment of severe and very severe COPD.",
"gender": "Unknown"
}
] |
PMC10637367
|
[
{
"age": 53,
"case_id": "PMC10657768_01",
"case_text": "A 53-year-old Indonesian man (Asian) of Sundanese ethnicity and Muslim faith had multiple non-itchy painless skin-colored papules on the lower abdomen, including the pubic, inguinal, genital, and gluteal regions. The lesion initially appeared five years before the first visit as a skin-colored papule in size of a pinhead on the scrotum. Given that the condition was asymptomatic, the patient did not seek treatment but in the last six months, the lesions had significantly increased in number and size. The patient visited a dermatologist one month ago and was administered three different oral medications alongside an ointment. According to the doctor, these drugs were used for eliminating pruritus, \"anti-inflammation\", and \"antibiotic\". After taking the medication for a week, no improvement was observed. The patient was married and admitted to having only one sexual partner, the wife. There was no history of promiscuity, and on clinical evaluation, the wife did not show any sign of AGWs. Furthermore, there was no history of other STI symptoms, and the patient did not remember exactly the type of vaccine received in childhood. Physical examination indicated extensive verrucous and hyperkeratotic papules, plaques, and nodules on the lower abdomen, pubic, inguinal, genital, and gluteal region ranging from 0.3x0.3x0.2 cm to 6x3x0.7 cm (Figure 1a). No cutaneous lesions were found in any other body region, and no lymphadenopathy was observed. The acetowhite test results were positive, while laboratory examination results for HIV, syphilis, and hepatitis B were non-reactive. Genotyping with PCR showed positive results for HPV types 6 and 11. Histopathology showed keratinized stratified squamous epithelium with hyperplastic, acanthosis, hyperkeratosis, and papillomatosis figure (Figure 2a and b). Koilocytosis (Figure 2c) was observed in some nuclei, but there were no signs of malignancy. Based on the histopathological examination results, the diagnosis was concluded as CA. The patient received an intralesional injection of 0.5 mL MMR vaccine (Merck Sharp & Dohme Corp. North Carolina, USA; distributed by Merck Sharp & Dohme, Jakarta, Indonesia) into the largest wart, with a 3-week interval. The treatment response was assessed by measuring the size and number of warts at each follow-up visit. During the one-month follow-up after the third injection, no improvement was observed in either the size or number of lesions (Figure 1b-d). Moreover, there were no local adverse effects, such as pain, itching, erythema, and swelling, or systemic adverse effects, including flu-like symptoms. The patient was scheduled for electrocautery to remove visible skin lesions.",
"gender": "Male"
}
] |
PMC10657768
|
[
{
"age": 51,
"case_id": "PMC10789892_01",
"case_text": "A 51-year-old woman presented to a breast clinic with complaint of the painless left breast lump. She first noticed the lump 12 years ago shortly after the car accident. According to the patient, she suffered some bruises and swelling of her left breast as a consequence of a seatbelt injury. A few weeks after the car accident, the painless lump developed in the patient's inner left breast. Except for a slight hardening of the breast in the last few years, the lump remained stable until 4 months ago when it began to increase in size. Patient did not complain of pain but was concerned about the growing lump. She was reassured of the benign nature of her condition and explained that the ruptured oil cyst and its extruded content would undergo natural degeneration and evolution within the breast. According to the American Cancer Society, fat necrosis does not increase the risk of breast cancer. The patient was clinically stable without any signs of infection or bleeding and, therefore, did not require an immediate active management or the hospital admission. She did suffer a mild left breast asymmetry and was offered a referral to a cosmetic surgeon for further evaluation and possible correction. The patient, however, elected not to seek a recommended medical care.\nAll procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.",
"gender": "Female"
}
] |
PMC10789892
|
[
{
"age": 37,
"case_id": "PMC11102049_01",
"case_text": "The patient, a 37-year-old female, presented to our hospital on January 9, 2017 with a history of retroperitoneal tumor resection 8 months prior. She had noticed an abdominal mass for the past month. The initial tumor resection had taken place at the Retroperitoneal Tumor Surgery Department of the People's Liberation Army General Hospital in Beijing in April 2016. The tumor weighed approximately 4.6kg and was diagnosed as liposarcoma based on the postoperative pathology report. One month before her current visit, the patient discovered a palpable mass on the right side of her abdomen, along with a mild bloating sensation. The patient reported no prior instances of hypertension, diabetes mellitus, coronary heart disease, or any allergies to drugs or food. During the physical examination, a flat abdomen was observed along with a scar from a previous surgical incision in the upper abdomen's center. Additionally, a hard, irregular mass was identified on the right side of the abdomen. An enhanced CT scan of the abdomen revealed a space-occupying lesion measuring 9.3x6.4x11.3cm in the right abdominal cavity. It also showed slight dilation of the right renal pelvis and compression of the right ureter. Based on the patient's medical history, physical examination, and CT findings, the clinical team diagnosed the mass as recurrent retroperitoneal tumor. On January 16, 2017, the patient underwent right retroperitoneal tumor resection and right hemicolectomy. The size of the resected tumor was approximately 20x15x15cm. The postoperative pathological diagnosis confirmed the presence of retroperitoneal dedifferentiated liposarcoma, localized myxoid liposarcoma, and involvement of the mesentery, right renal fat sac, and adrenal nodular hyperplasia. There was no involvement of the omentum or appendix. The stump and periintestinal lymph nodes showed no evidence of tumor spread with 0/9 lymph nodes affected. As the surgical resection was deemed complete, the patient did not receive postoperative radiotherapy or chemotherapy.\nThe patient was regularly followed up after surgery until the local recurrence of the tumor was discovered on October 19, 2018. Subsequently, the patient's RPLPS has relapsed multiple times on the following dates: October 30, 2018; December 31, 2019; December 5, 2020; July 31, 2021; September 22, 2022; and December 14, 2023. Tumor resection was performed through open surgery. In January 2020, the patient underwent a comprehensive gene test, which revealed an insertion-deletion mutation in the patient's somatic KMT2D gene, with a mutation frequency of 1.3%. Chemotherapy was initially considered for the patient, however, their financial constraints posed a challenge in affording long-term treatment. Furthermore, due to the frequent tumor recurrences and the limited interval between them, it was uncertain whether chemotherapy would yield the desired outcomes. Consequently, after thorough deliberation, the patient decided to forgo the treatment plan. Despite undergoing several courses of anlotinib targeted therapy during the patient's seventh relapse, there was no significant improvement in their condition. Throughout the course of the disease, the patient has experienced a total of 7 recurrences and has undergone 8 surgeries. Figure 1 displays the abdominal CT scan since the seventh recurrence, illustrating the presence of multiple tumors. The eighth operation revealed the largest tumor measuring 32 x 26 cm, with a total weight of 12 kg ( Figure 2 ). During the second surgery, the patient underwent a right hemicolectomy due to colon involvement, and in the fifth surgery, the right kidney was removed due to tumor invasion into the right renal parenchyma. All postoperative pathological diagnoses primarily indicated DDLPS, with local WDLPS, MLS, and PLPS also present ( Figure 3 ). The timeline of this case is depicted in Figure 4 .",
"gender": "Female"
}
] |
PMC11102049
|
[
{
"age": 40,
"case_id": "PMC10614226_01",
"case_text": "As a consultant hematologist specializing in chronic lymphocytic leukemia (CLL), I was approached by a 40-year-old lady who came for a second opinion. She reported being diagnosed with CLL, stage A, 8 years earlier, and since then, she has been on a watch-and-wait follow-up policy. Her physical examination was normal; her blood count showed a white blood count (WBC) of 120,000 mm3, her lymphocyte percentage was 72%, and her hemoglobin and platelets were within the normal range. She came to ask what the literature describes regarding the course of CLL during pregnancy and labor and whether it affects the future fetus? Her local hematologist recommended she avoid pregnancy due to scarce literature on the topic.",
"gender": "Female"
},
{
"age": 45,
"case_id": "PMC10614226_02",
"case_text": "In the current work, we aimed to give the best answers for similar cases of young CLL females below 45 years old wishing for a normal life, including pregnancies and children. Due to missing evidence-based medicine, their family doctors and sometimes the local hematologist struggle with what to recommend without risking them.",
"gender": "Female"
},
{
"age": 72,
"case_id": "PMC10614226_03",
"case_text": "CLL is the most frequent leukemia in the Western world, yet it is a disease of the elderly with a median age at diagnosis of 72 years old and is more frequent in males. Only 2% are women below 40 years old, and this explains the rarity of pregnancy cases.\nReviewing the literature on the topic, it is mainly based on anecdotal case reports [, 5-9]. Few of them also report details on therapy given during pregnancy such as leukapheresis and chemotherapy. The largest serial published arrived from Australia, where they describe the course of 5 patients with CLL, their pregnancy course and labor, including a literature review and management discussion.\nIt should also be noted that most reported cases are relatively old and that the CLL approach has dramatically changed in the last 10 years, mainly due to novel agents and supportive care, which are now available [11-14]. In a non-biased and constitutive order, we aimed to analyze cases of pregnancy in a large registry cohort of patients with CLL, report on pregnancy outcome, and effect on CLL or pregnancy course.",
"gender": "Male"
}
] |
PMC10614226
|
[
{
"age": 59,
"case_id": "PMC11140025_01",
"case_text": "A 59-year-old woman presented with a two-month history of chest tightness and shortness of breath that worsened significantly in the last 12 h prior to admission. Previous episodes of chest discomfort and dyspnea occurred during physical activity and were alleviated by rest. Upon admission, she was experiencing orthopnea and acute emesis. The patient had a past history of hypertension and diabetes for 2 years. Her breathing sounded slightly rough. Her heart rate was at 104 beats per min, and she had a rhythmic systolic rumble (grade 2/6) in the mitral region but no lower limb swelling.\nLaboratory results indicated a serum troponin level of 0.043 ng/ml, normal serum creatinine, and an elevated B-type natriuretic peptide (BNP) level of 3,170 pg/ml. A transthoracic echocardiogram revealed two masses in the left atrial cavity. The larger mass measured 7.2 x 3.2 cm and was located proximally to the mitral valve. The smaller lesion measured 2.5 x 2.4 cm and was directly linked to the mitral valve. The masses were characterized by irregular shapes, clear boundaries, and uneven echogenicity. During diastole, the small mass prolapsed into the left ventricular inflow tract, generating a 35 mmHg pressure differential. The transthoracic echocardiogram also found mitral orifice obstruction with mild regurgitation; moderate pulmonary hypertension; mild tricuspid regurgitation; small amount of pericardial effusion, Pressure difference halved time 149 ms, and no significant abnormalities were observed in the residual valves. Some specific data is shown in Table 1. Based on ultrasound findings, a preliminary diagnosis of a left atrial mass was made, with suspicion of malignancy.\nContrast-enhanced echocardiography was recommended, revealing rapid perfusion of the contrast material into the right and left atria and ventricles. After a few cardiac cycles, the mass was substantially enhanced, almost matching the surrounding myocardium, confirming the likelihood of a malignant tumor (Figure 1, Supplementary Video 1).\nOn February 8, 2023, the patient underwent surgery for the left atrial lesions. The surgical approach was median sternotomy. cardiopulmonary bypass was used in the surgery through Aortic Cannulation and bicaval cannulation. More than 2 lesions, with different sizes, were found in the left atrial. The cardiac tumors exhibited fragility and spanned from the roof of the left atrium to the edge of the mitral valve. The left atrial tumors were excised en block, accompanied by the removal of a portion of the endocardium. Finally, a 3 cm x 4 cm size Cow pericardial patch was used to rebuild the atrial septum. Subsequent to the surgical procedure, postoperative pathology analysis identified a cardiac malignant tumor consistent with myxofibrosarcoma. This diagnosis was substantiated through immunohistochemistry and microscopic morphology examination (Figures 2, 3). Immunohistochemical staining results were as follows: CK(AE1/AE3)(-), EMA(-), Vimentin(+), CD31(-), CD34(-), D2-40(-), Desmin(-), SMA(small amount+), MyoD1(-), S-100(-), Ki-67(+ approximately 30%); F8(-), Actin(-), MSA(-), caldesmon(+), B-catenin(-), HMB45(-), SOX-10(-), CD117(-), DOG-1(-), TFE3(+).calretinin(-), WT-1(+), Bcl-2(-), CD99(+).\nThe patient recovered well after surgery without any surgical complications. The symptoms of chest tightness and shortness of breath disappeared when the patient was discharged. PET-CT examination was performed after the operation, revealing that the patient had multiple metastatic lesions in the liver and left femur. Subsequently, the patient underwent 6 cycles of chemotherapy, comprising albumin-bound Paclitaxel 200 mg, Liposomal Doxorubicin 40 mg, and Anlotinib 10 mg.\nAt 8 months post-surgery, a 41 x 24 mm mass in the left atrium was detected using transthoracic echocardiography. The lesion had an irregular shape, uneven echogenicity, and an ill-defined boundary with the atrial septum. The maximum velocity of blood flow through the mitral valve was measured to be 1.39 meters per s. The maximum and mean pressure gradients across the valve were found to be 8 and 4 mmHg, respectively. During the contrast-enhanced ultrasound examination, perfusion of the contrast agent was observed in the mass. However, the enhancement degree was lower than that of the adjacent myocardium, leading to the diagnosis of tumor recurrence. (Figure 4, Supplementary Video 2). Considering tumor recurrence, Lenvatinib Mesylate was added as an anti-tumor therapy. The patient was followed up monthly in our hospital. Having gone through the series of treatments (Table 2), she complained of nothing but feeling a little weakness with firm support from family members and meticulous care from medical staff, she kept an Optimistic attitude.",
"gender": "Female"
}
] |
PMC11140025
|
[
{
"age": 4,
"case_id": "PMC11427285_01",
"case_text": "A 4-year-old girl, standing 102 cm tall and weighing 26 kg, with a body mass index (BMI) of 24.99, was diagnosed with neuroblastoma more than 3 months ago. She is now preparing for thoracoscopic mediastinal tumor resection surgery.\nOver a year before her hospital admission, the patient began to show an unexplained increase in weight while maintaining a normal appetite and consuming minimal water. Additionally, she exhibited abnormal behaviors and faced intermittent challenges with falling asleep at night, with suspected seizure episodes also being reported. Five months prior to admission, she developed strabismus and ptosis, with no discernible cause. While the initial diagnosis indicated severe astigmatism and myopia, no treatment was administered. Four months prior to admission, the patient exhibited generalized edema, particularly in the limbs and abdomen, along with respiratory distress, lip cyanosis, and significantly impaired mental acuity. The patient underwent a chest computed tomography (CT) scan at a local hospital, which revealed pneumonia with partial collapse of the right lower lobe and bilateral pleural effusion. Furthermore, an occupying lesion was discovered in the left upper mediastinum in addition to pericardial effusion. Following admission to the intensive care unit (ICU), the patient showed improvement after receiving tracheal intubation and mechanical ventilation support, along with the administration of albumin and antibiotics for infection control. Finally, more than 3 months before admission, the patient was transferred to our emergency department, where an ultrasound-guided biopsy of the mediastinal mass suggested the presence of a ganglioneuroblastoma.\nUpon admission, a CT scan of the chest disclosed a mediastinal mass measuring 7.6 x 6.2 x 7.1 cm, along with left clavicular lymph node metastasis. Comprehensive chromosomal and whole exome sequencing revealed no genetic anomalies. Biochemical assessments revealed hypernatremia (147-162 mmol/L) and hyperchloremia (113-126 mmol/L). Moreover, a hormonal evaluation revealed hyperprolactinemia (149.18 ng/ml), the normal range is 3.1-15.7 ng/ml. Following four cycles of chemotherapy (CBVP [Carboplatin and Etoposide] twice, followed by CADO [Cyclophosphamide, Vincristine, and Pirarubicin] twice), a detailed evaluation of hypothalamic function was undertaken, revealing a significant increase in serum sodium levels (161.1 mmol/L). The implementation of enhanced fluid intake and a low-osmolar potassium-containing solution resulted in a modest reduction in blood sodium levels (152.1 mmol/L). However, prolactin levels remained markedly elevated at 110.04 ng/ml, alongside normal urine osmolality and cortisol rhythm. Ophthalmological examination disclosed partial visual field defects. Considering the patient's early-onset obesity, hypothalamic dysfunction manifesting as hypernatremia and hyperprolactinemia, and autonomic disturbances including excessive sweating, strabismus, ptosis, and sleep disturbances, coupled with inadequate ventilation (percutaneous oxygen saturation fluctuating between 85% and 90% without supplementary oxygen during sleep), and indications of seizures and aberrant behavior, a diagnosis of ROHHAD syndrome was established, along with a suspected mediastinal ganglioneuroblastoma.\nBased on the information provided, the patient's medical, personal, and family histories are unremarkable. Preoperative evaluation revealed that the patient was alert, responsive, and active, with stable breathing and an oxygen saturation of 95%-98% without supplemental oxygen. The extent of mouth opening was adequate, but her cooperation during the physical examination was poor. Examination findings included left eye exotropia, ptosis, and slightly cool hands, with no other significant abnormalities.\nThe preoperative assessment revealed a hemoglobin level of 10.2 g/dl, sodium concentration of 158.3 mmol/L, and chloride levels of 122.4 mmol/L. A chest CT scan (Figure 1) depicted a substantial, enhancing mass on the left side of the spine, measuring approximately 7.3 x 5.9 x 8.6 cm. This mass induced compression of the airway without causing significant stenosis, and patchy infiltrates were observed in the left lower lobe. Echocardiography revealed a patent foramen ovale measuring 1.9 mm with preserved left ventricular function. All other laboratory findings were within the normal ranges. The diagnosis was suggested to be a mediastinal ganglioneuroblastoma.\nThe child fasted routinely before surgery and received an intravenous infusion of a glucose-sodium chloride-potassium injection solution consisting of 8% glucose, 0.18% sodium chloride, and 0.15% potassium chloride for fluid therapy. Upon entering the operating room, standard monitoring was conducted, including measurements for SpO2, electrocardiogram, and non-invasive blood pressure. Subsequently, the child was administered 20 mug of fentanyl, 40 mg of propofol, and 2.5 mg of cisatracurium. Tracheal intubation was performed once the desired depth of anesthesia was achieved. A fiber bronchoscope guided the placement of a number 5 bronchial blocker into the left main bronchus, initiating single-lung mechanical ventilation in volume ventilation mode. The settings included a 75% oxygen concentration, an expiratory tidal volume of 200 ml, and a respiratory frequency of 22/min. Radial artery and femoral vein cannulation (5.0 double lumen) were conducted under ultrasound guidance, accompanied by bispectral index and temperature monitoring. Additionally, a urinary catheter was inserted.\nDuring the surgery, a combination of sevoflurane (1%), propofol (6-10 mg/kg/h), and remifentanil (0.2-0.3 mug/kg/min) was administered to maintain anesthesia. The anesthetic drug dosages were adjusted according to the patient's bispectral index score, heart rate, and arterial blood pressure. Arterial blood gas levels were monitored throughout surgery, and the results are presented in Table 1.\nDuring surgery, a solid tumor with a rich vascular network was observed in the posterior mediastinum at the level of the C7-T6 vertebrae. The tumor surrounded the left subclavian artery, the vertebral artery, and multiple branches, with the brachial plexus nerves traversing through it. The surgical team meticulously dissected and protected the vessels and nerves, successfully completing tumor resection within a 3 h timeframe.\nThe patient was administered the following intravenous fluids postoperatively: 400 ml of glucose-sodium chloride-potassium solution, 100 ml of compound sodium lactate solution with mannitol, 400 ml of 5% glucose solution (500 ml + 6 units of insulin + 0.6 g of KCl), 1 unit of suspended red blood cells, and 200 ml of fresh frozen plasma. The patient experienced a blood loss of 10 ml and a urine output of 50 ml. Subsequently, the patient was transferred to the ICU with a single-lumen endotracheal tube.\nUpon transfer to the ICU, the patient received mechanical ventilation, and an arterial blood gas analysis was promptly performed, as detailed in Table 2. One hour after ICU admission, the endotracheal tube was withdrawn, and nasal cannula oxygen therapy was administered at a flow rate of 2 L/min. Subsequent blood gas analysis was performed after another hour (Table 2), with routine arterial blood gas monitoring thereafter (Table 2). On the second postoperative day, the patient was transferred to the thoracic surgery ward and discharged on the fifth postoperative day. We recommended that this patient receive noninvasive positive pressure ventilation during sleep after discharge. Histopathological examination confirmed the diagnosis of neuroblastoma with ganglioneuroblastic differentiation.",
"gender": "Female"
}
] |
PMC11427285
|
[
{
"age": 50,
"case_id": "PMC11380846_01",
"case_text": "A 50-year-old man who presented with yellow staining of sclera and skin over 40 years and suffered from fatigue and fever was admitted to our hospital on 12 May 2023. The patient had visited another hospital (Tongren People's Hospital, Guizhou Province, China) three days prior and physical examination revealed mild splenomegaly and did not found any systemic superficial lymph node enlargement. His blood analysis tests were as follows: white blood cell count, 15.1x109/L (reference range 4-10x109/L); neutrophil percentage, 75.9% (reference range 50-70%); hemoglobin, 65g/L (reference range 120-160 g/L); platelet count, 223x109/L (reference range 100-350x109/L); reticulocyte, 14.7% (reference range 0.8-2%); mean corpuscular volume, 85.9 fL (reference range 80-100 fL); folate 3.0 ng/mL (reference range >5.9 ng/mL), vitamin B12, 157 pg/mL (reference range 180-914 pg/mL); ferritin, 1422 ng/mL (reference range 24-336 ng/mL); serum iron, 13.9 mumol/L (reference range 11.5-31.3 mumol/L); total iron-binding capacity, 29 mumol/L (reference range 50-77 mumol/L); total serum bilirubin, 65 mumol/L (reference range 3-20 mumol/L); direct bilirubin, 22 micromol/L (reference range 0-7 mumol/L). Abdominal ultrasound revealed calculous cholecystitis and the echoes of the liver showed dense thickening. Besides, the spleen thickness was approximately 5.4 cm with a diameter of 15.1cm. Based on the above findings, piperacillin/tazobactam was administered for anti-infection treatment and folic acid and mecobalamin tablet for anemia treatment. Subsequently, this patient was presented to our outpatient clinic for the first time on 12 May 2023. Blood test results were as follows: white blood cell count, 14.8x109/L (reference range 3.5-9.5x109/L); hemoglobin, 74 g/L (reference range 130-175 g/L); platelet count, 235x109/L (reference range 100-300x109/L); reticulocyte, 23.5% (reference range 0.5-1.5%); mean corpuscular volume, 97.5fL (reference range 80-100 fL); folate 6.7 ng/mL (reference range 3-20 ng/mL), vitamin B12 217 pg/mL (reference range 180-900 pg/mL); ferritin, 820 ng/mL (reference range 15-200 ng/mL); total iron-binding capacity, 38 mumol/L (reference range 50-75 mumol/L). The two hospitals showed similar clinical examination results.\nTo further investigate the underlying etiology of anemia, we also performed a series of tests. The direct antiglobulin test and antibody screen were both negative, not supporting autoimmune hemolysis. Ham and Hemolysis test represented negative results, not supporting paroxysmal nocturnal hemoglobinuria. Methemoglobin reduction test was also negative, not supporting haemolytic anaemia due to Glucose-6-phosphate dehydrogenase deficiency. We also conducted red blood cell fragility, however, the specimen was hemolyzed and the results were not available. Peripheral blood smears showed 42% spherocytes. Bone marrow smears indicated that significant active bone marrow hyperplasia, of which, granulocytic lineage account for 29.5%, erythroid lineage account for 60.5%, and granulocyte/erythrocyte ratio was 0.49:1 (Figure 1). Moreover, nucleated cells appeared grossly normal in shape and bone marrow iron stain revealed extracellular iron (+++), sideroblasts 60%, suggesting an iron overload condition. So the diagnosis is locked to hemolytic anemia caused by HS. Subsequently, targeted sequencing of the exon regions of 151 jaundice related genes in genomic DNA extracted from the patient's peripheral blood were performed by library-based sequencing platform ABI 3730 automated DNA sequencer (Applied Biosystems, USA). And results showed SPTB p.N1260fs and UGT1A1 p.G71R mutations (Table 1). Other examinations were done when the patient accepted the hepatobiliary surgery. The average plain MRI T2 scan value of liver, bile, pancreas, spleen showed 5.22 ms, suggesting mild iron deposition in hepatic. The pathology of liver biopsy indicated cholestatic liver injury, extra and intrahepatic bile ducts obstruction, hepatic iron deposition (grade 2-3, corresponding to modified Scheuer score G2S1). Based on the above test results, the patient was diagnosed with HS complicated with GS. The patient was given anti-infection and supportive therapy. After resolution of the infection, the hemoglobin returned to the normal level and the patient did not receive any additional treatment. In addition, the patient did not state a similar family history. Regretfully, genetic testing was not done in other family member. The diagnostic process of this patient was shown in the Figure 2.",
"gender": "Male"
}
] |
PMC11380846
|
[
{
"age": 70,
"case_id": "PMC11290840_01",
"case_text": "A 70-year-old male patient was admitted to the emergency department with persistent cough, hemoptysis, and back pain that had lasted for three weeks. Although his physical examination in the emergency department revealed no significant findings, a chest radiograph displayed a consolidated area with spicular extension in the left hilar region. Subsequent thoracic computed tomography (CT) showed a mass lesion measuring 38x25x36 mm with a standard uptake value (SUV) of 7.44 adjacent to the hilar region (Figure 1). Suspecting lung malignancy, the medical team performed endobronchial ultrasonography (EBUS), which identified a heterogeneous hypoechoic intramural lesion on the anterior wall of the left upper lobe entrance. Cytological samples were taken from the lesion twice, which tested negative for malignancy. However, they revealed bacterial clusters consistent with Actinomyces (Figure 2). The patient was initially treated with 4 x 2 g of intravenous ampicillin for eight weeks. A follow-up CT scan showed complete regression of the mass in the upper lobe (Figure 1). Treatment continued with amoxicillin plus clavulanic acid, administered orally at a dosage of 3 x 1 g for an additional eight weeks, during which he was closely monitored. Pulmonary actinomycosis is known to mimic a range of lung pathologies, from benign infections to metastatic tumors, and 25% of thoracic actinomycosis cases are initially misdiagnosed as malignancy. The patient achieved complete recovery with appropriate treatment over a sufficient duration.",
"gender": "Male"
}
] |
PMC11290840
|
[
{
"age": 59,
"case_id": "PMC10789899_01",
"case_text": "A 59-year-old Caucasian male initially presented to urgent care with right flank pain in early January 2022, at which time he was prescribed cyclobenzaprine for presumed musculoskeletal pain. Prior to this presentation, the patient had no significant medical history. The pain persisted despite this treatment and progressed to impair gym exercise as well as daily activity. The patient then presented to his primary care provider in February 2022. At this time, an abdominal computed tomography (CT) with contrast was ordered showing a pancreatic tail mass. Cancer antigen 19-9 (CA 19-9) was 448 U/mL. The patient subsequently underwent endoscopic ultrasound (EUS) with fine needle aspiration (FNA) confirming the pancreatic tail mass as PDAC. This was followed up with a positron emission tomography (PET) scan revealing a hypermetabolic focus within the pancreatic tail mass, as well as possible pleural and bone metastasis. This pleural metastasis was not confirmed due to high risk of biopsy. The bone metastasis was not biopsied either due to imaging confirmation and concern over yield of biopsy. Clinically, the patient was considered to be in stage 4 PDAC.\nGermline testing through Ambry (Aliso Viejo, CA, USA) revealed pathogenic mutation in one copy of his cystic fibrosis transmembrane conductance regulator (CFTR) gene. FoundationOne CDx (Cambridge, MA, USA) testing of his peripheral blood revealed a KRAS G12D, FGFR4, GNAS, and TP53 pathogenic mutations. The patient did not have any barriers of access in pursuing appropriate workup and treatment.\nIn March 2022 systemic chemotherapy was initiated with gemcitabine/paclitaxel-protein bound/cisplatin. Prior to treatment administration, the patient reported acute onset of blurry vision in the left eye as well as intermittent headaches. The patient was referred to an ophthalmologist. Of note, a recent CT of the brain without contrast done on initial workup in February 2022 was unremarkable.\nIn April 2022, the patient presented to a retinal specialist for evaluation of his acute onset left sided blurry vision. The patient reported that images appeared to be smaller in his left central vision compared to his right, and that straight lines in the left eye appeared to be distorted. The patient endorsed intermittent episodes of \"blue flashes\" described as though \"it was snowing outside\" near the onset of the symptoms which had since ceased. The patient also endorsed intermittent headaches that he attributed to his right eye attempting to compensate for the left. He denied floaters, aggravating or alleviating factors, and impact on daily activities. Examination revealed left eye pigmentary changes overlying subretinal fluid (SRF) along with peripheral retinal depigmentation (Figure 1A-1C). The conclusion was the patient has evidence of metastatic disease to the left retina/choroid and not a central serous choroidopathy.\nBeginning in March 2022, the patient initiated therapy with gemcitabine/paclitaxel-protein bound/cisplatin. Dosing followed prior published literature with gemcitabine given at 1,000 mg/m2, paclitaxel-protein bound at 125 mg/m2, and cisplatin at 25 mg/m2. Patient tolerated therapy well other than minimal chemotherapy induced peripheral neuropathy affecting his fingers. He did undergo a partial splenic embolization procedure to improve thrombocytopenia secondary to hypersplenism. The patient did not have any tolerability issues outside of prior published literature that were unexpected. As of the submission of this report the patient is clinically doing well with a partial response to his initial chemotherapeutic regimen, including resolution of SRF at subsequent ophthalmologic visits (Figures 2,3). He remains active on his second line of chemotherapy.\nAll procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Verbal informed consent for publication of this case report and accompanying images was obtained from the patient. Written informed consent was not obtained due to the patient and relatives being inaccessible at the time of submission of this report.",
"gender": "Male"
}
] |
PMC10789899
|
[
{
"age": 61,
"case_id": "PMC10642203_01",
"case_text": "A 61-year old, previously functionally fully independent man (pre-mRS = 0) was admitted to a primary stroke center with dysarthria, right-sided weakness (including facial asymmetry due to the central facial palsy), hemisensory loss and hemiataxia, scoring 8 on the National Institutes of Health Stroke Scale (NIHSS). The medical history of the patient included AF, hypertension, chronic heart failure, and dilated cardiomyopathy. He had an implanted cardioverter-defibrillator and, among chronically administered drugs, 20 mg of rivaroxaban daily, with the last dose taken at 9:00 a.m., approximately 40 min before stroke onset. Initial non-contrast CT with angiography showed neither acute/early tissue changes nor significant large vessel stenoses or occlusions (LVO). The patient was then transferred to our comprehensive stroke center (Department of Adult Neurology, University Clinical Center in Gdansk) for further assessment and possible treatments, with the arrival at 12:00. Because of the high anti-Xa activity (plasma concentration of rivaroxaban was 243 ng/mL), based on the present guidelines, he was not considered for intravenous thrombolysis (IVT); instead, he was recruited for the STROACT study.\nIt is not entirely out of the question that the incident could be a transient ischemic attack (TIA) but its clinical characteristics:including severity and duration (before study treatment administration, the neurological deficit, measured using the NIHSS, did not change), and the therapy-associated recovery:are rather indicative for a stroke.\nThe patient was recruited to the STROACT study and received sequential therapy composed of andexanet alfa and rtPA (alteplase) or (if randomized to be a \"control\"), placebo+placebo. In this study, high anti-Xa activity and a short time from the last intake of NOAC before the onset of stroke (<1 h) implied the selection of a high dose of antidote (andexanet alfa or placebo) (Figure 1). The patient received the antidote (or placebo) intravenous bolus of 800 mg (30 mg/min for 27 min; contralateral arm) at 2:41 p.m., followed by a bolus of rtPA (or placebo) (10% of the calculated dose; 8 mg; ipsilateral arm) at 3:12 p.m., continuous infusion of antidote (andexanet alfa or placebo) at 8 mg/min for 120 min (up to a dose of 960 mg; contralateral arm), and rtPA (or placebo) infusion (90% of the calculated dose; 73 mg; ipsilateral arm). In this therapeutic scheme, both infusions are ongoing concurrently for approximately 60 min, and then andexanet alfa (or placebo) is administered alone until completion of the dose.\nApproximately 70 min after the initiation of the therapy, the patient's neurological deficit had markedly resolved with only slight remaining clumsiness of the hand; however, the NIHSS score was already 0. After another 15 min, the patient's general condition deteriorated, with hypotension (blood pressure down to 70/40 mmHg), dyspnea, flushed skin, and hives on the chest being observed, likely due to an anaphylactic reaction. The study treatment was then stopped immediately with a single intravenous dose of epinephrine (1 mg), breathing support by an oxygen mask, and parenteral fluids administered, with subsequent fast (5 min) clinical improvement. During deterioration, we did not observe recurrence of any initial neurological symptoms, and it did not result in any further complications. Nevertheless, the incidence qualified as a serious adverse event, which was assumed to be related to the administration of rtPA (also note that there was some skin redness around the area of its injection). Obviously, its occurrence revealed a result of the randomization for this subject (the risk of anaphylaxis after placebo is negligible); the patient was unblinded, the randomization outcome was confirmed (the active treatment), and proper extra information was added to the study protocol.\nOn discharge on the 9th day, the patient was asymptomatic, and thus the NIHSS score was still 0. Additionally, the follow up CT scan, performed 24 h after the initiation of the study treatment revealed no acute ischemic lesions (implanted cardioverter defibrillator prevented us from performing the MRI scan).",
"gender": "Male"
}
] |
PMC10642203
|
[
{
"age": 39,
"case_id": "PMC10667677_01",
"case_text": "The patient was a 39-year-old Japanese female with a history of asthma exacerbation with aspirin from 3 years ago. She visited our hospital because her asthma attacks did not improve with beta-agonist inhalation at home. After a saline infusion, 100 mg of HCs (Solu-Cortef ) dissolved in 20 ml saline without additives was given intravenously over several minutes. A few minutes later, she developed a marked asthma exacerbation with severe cough and cyanosis and finally recovered after 1 h of oxygen administration, intramuscular injection of adrenaline, and intravenous theophylline infusion. No skin rash or hypotension was observed during the course of hypersensitivity symptoms, and her asthma exacerbation was judged to be due to the intravenous hydrocortisone sodium succinate (HCs) preparation.\nLater, for the purpose of studying available intravenous steroids, a single-blind, loading study was performed four times every 2-4 weeks with oral cortisol and three intravenous corticosteroid formulations, with the patient's consent. Intravenous infusion was performed over 5 min. The results showed that prednisolone sodium succinate (PSLs) 10 mg and methylprednisolone sodium succinate (MPSLs) 20 mg decreased forced expiratory volume in 1 s (FEV1) by 31% and 35%, respectively, and induced severe coughing and wheezing. A subsequent intravenous provocation test with hydrocortisone sodium phosphate (HCp), starting at 10 mg and going up to a maximum of 100 mg, did not decrease FEV1 and did not induce coughing. Based on these results and an analysis of reported cases in the literature, we hypothesized that N-ERD is potentially hypersensitive to succinate steroids such as HCs.",
"gender": "Female"
}
] |
PMC10667677
|
[
{
"age": 45,
"case_id": "PMC11137791_01",
"case_text": "A 45-year-old woman was admitted to a tertiary care hospital with a history of talking to herself, hearing voices, being suspicious of her husband, sleep disturbances, anger and irritability. The patient has been diagnosed with schizophrenia for the past 18 months and is currently prescribed a daily dose of 10 mg of haloperidol, which was initially started at 5 mg. The individual had a BMI of 30.3 kg/m2, indicating obesity. They exhibited average psychomotor function and reported no substance use. During her personal history disclosure, the patient reported experiencing abnormal, painless, continuous, involuntary movement in the second, third and fourth toes of her left foot for the past 6 months. She was unable to stop the movement and exhibited no symptoms of bradykinesia, rigidity or tremors. There was no evidence of prior brain injury or trauma, and there was no familial history of movement disorders. This patient had no movements in her toes during sleep and no urges to move her legs or toes. The movements have minimal influence on her daily activities due to the emotional distress and concern they cause her. There were no indications of any further neurological abnormalities, such as sensory difficulties, reduced tendon reflexes, weakness or muscular atrophy. Both computerized tomography (CT) and magnetic resonance imaging (MRI) scans showed no evidence of lesions, tumors, infarctions or hemorrhages. The MRI scan of the entire spinal cord did not indicate any signs of compression. Nerve conduction studies and blood examinations, including Hepatitis Virus (HBV and HCV), renal, liver, and thyroid function tests, were found to be normal. Hemoglobin A1c (HbA1c) level was 6.1%, vitamins B1 and B12, ceruloplasmin and serum iron levels were within the normal range. Additionally, a lumbar puncture was conducted and no abnormalities were observed in the report.\nThe precise cause of the patient's PoLMT remains uncertain, despite considering factors such as the absence of pain and other clinical indicators. It is hypothesized that PoLMT might be a rare side effect of the patient's antipsychotic treatment since she had been on haloperidol 5-10 mg daily for 10 months prior to presentation. According to the literature, the patient began treatment with oral clonazepam at a dosage of 0.5 mg/day, which was subsequently increased to 1 mg/day. Gabapentin at a dosage of 300 mg administered three times daily was prescribed for the patient with PoLMT. However, there was no improvement in the movements. Haloperidol was discontinued for a period of 2 weeks, and a decrease in movement was noted in the third and fourth toes, while no noticeable change was observed in the second toe (video 1: before dechallenge with haloperidol, and video 2: after dechallenge with haloperidol). The improvement in the movement of the third and fourth toes was noticed only after being dechallenged with haloperidol, which was clearly observed in video 2. Before the dechallenge, all three toes had movement, which led us to speculate that haloperidol might induce PoLMT. Then they switched to an atypical antipsychotic (aripiprazole 15 mg). The mechanism behind this switch therapy is that haloperidol has a strong antagonistic effect on the D2 receptors; in contrast, aripiprazole is a newer atypical antipsychotic that displays a unique pharmacological profile, including partial D2 agonism, but both antipsychotics act via the D2 receptor. On the other side, clozapine induces fewer EPS than other antipsychotic medications, especially less akathisia and tremor, and usually no dystonia or rigidity. In patients with dyskinetic movements induced by other antipsychotics, clozapine may reduce or even remove dyskinesia. The low level of EPS with clozapine may be linked to its receptor-binding profile because during clozapine treatment, the level of D2 receptor blockade is too low to induce EPS, but due to obesity risk, this patient was prescribed Aripiprazole. The patient was discharged upon her request and was prescribed the following medications upon discharge: a daily dose of 15 mg of aripiprazole, a daily dose of 1 mg of clonazepam, and a daily dose of 20 mg of pantoprazole. Written informed consent was obtained from the patients for inclusion in this case report.",
"gender": "Female"
}
] |
PMC11137791
|
[
{
"age": 41,
"case_id": "PMC10825563_01",
"case_text": "A 41-year-old male presented with a 3-month history of intermittent abdominal pain, abdominal distension, nausea and vomiting and worsened for 1 month. His pulse rate was 130 bpm, temperature was 36.8 Celsius, and blood pressure was normal. He also reported experiencing night sweats over the previous month. On physical examination, the patient had a grossly distended abdomen and tenderness beneath the xiphoid process. His lactate dehydrogenase (LDH) and uric acid levels were elevated at 3833 U/L (normal <40 U/mL) and 805umol/L (normal 208-428 mumol/L), respectively. His tumor marker tests were non-specific.\nAn abdominal ultrasound showed thickening of the greater omentum and intestinal wall. A CT scan of the entire abdomen revealed thickened peritoneum and greater omentum with multiple small nodules, a thickened liver capsule with nodules, and a small amount of effusion in the abdominal and pelvic cavity. Lymph node enlargement was not observed. Based on the results of the above examinations, peritoneal tuberculosis (exudate type) was initially considered. However, the patient underwent ascites puncture, ascites was examined, and CA153, CA199, CEA, and conjugative Bacillus T cell tests were negative. The ascites pathology was not examined.",
"gender": "Male"
},
{
"age": 41,
"case_id": "PMC10825563_02",
"case_text": "For accurate diagnosis purposes, a 41-year-old male patient underwent 18F-FDG PET/CT. The scan was performed 60 minutes after intravenous injection of 317.8 MBq (8.59 mCi) of 18F-FDG. Maximum intensity projection (Fig. 1A), axial PET (Fig. 1B), CT (Fig. 1C), and fusion (Fig. 1D) images showed diffusely increased metabolic activity (SUVmax8.8) in the thickened peritoneum, omentum, and mesentery. Lymphoma lesions were considered; abdominal and pelvic effusion showed slightly increased FDG metabolic activity, and malignant ascites and pelvic effusion were considered. The soft tissue of the right anterior abdominal wall was thickened, flattening the right 6th anterior rib, and there was a strip of elevated radiation shadow, SUVmax5.1, which was considered indicative of lymphoma invasion. Nodular shadows of increased radioactivity were observed in the septal angle, SUVmax2.1, and lymph nodes with a cross-section size of about 1.0cm x 0.5cm were observed in the corresponding site, which were considered lymphoma lesions. The patient was diagnosed with Ann Arbor Staging II lymphoma. In short, the entire peritoneum showed increased FDG uptake, while the rest of the body including the brain and kidneys exhibited decreased FDG activity, presenting a \"peritoneal super scan\" appearance (Fig. 1A).\nAn ultrasound-guided needle biopsy of the thickened peritoneum confirmed the presence of high-grade B-cell lymphoma, as indicated by the biopsy results (Fig. 2). Based on the histomorphology, immunohistochemical examination, and genetic testing, the clinician ultimately diagnosed the patient with Burkitt lymphoma.\nThe patient received two cycles of chemotherapy with CODOX-M and IVAC (cyclophosphamide + vincristine + doxorubicin combined with methotrexate was used alternately with isocyclophosphamide + etoposide + cytarabine) after a clear diagnosis was made, and a follow-up 18F-FDG PET/CT scan was performed one month after the end of treatment. The scan revealed that the pathological uptake in the peritoneum, omentum, and mesentery had disappeared, and the images were entirely normal (Fig. 1E-H). Physiological uptake was only observed within the myocardium, renal tract, spleen, vertebrae, and soft tissues. The disappearance of pathological uptake indicated that the treatment was effective in resolving the lymphoma lesions.",
"gender": "Male"
}
] |
PMC10825563
|
[
{
"age": 32,
"case_id": "PMC10868904_01",
"case_text": "A 32-year-old female presented with hyperpigmented plaques on the dorsum of her feet, predominantly on the medial aspect (Figure 1A). Erythematous macules, plaques of irregular shape and size varying from 0.5 cm2 to 4 cm2 in diameter were present on bilateral lower legs interspersed with follicular or non-follicular pustules, erosions and ulcers superimposed with yellowish crust (Figure 1B). Differential diagnosis of allergic contact dermatitis, psoriasis, pellagra and necrolytic acral erythema was kept. Dermoscopic examination (Illuco IDS 1100, 10x magnification, polarized mode) of the acute lesions revealed multiple perifollicular white globules on intense red-violaceous background interspersed with short linear vessels (Figure 2A). Dermoscopy of the ulcer showed yellow globules with radial white striations surrounded by brown dots and patches in polarized mode and dirty yellow scales and white globules in non-polarized mode (Figure 2, B and C). Raw areas revealed uniformly distributed red dots and globules with peripheral white scales in polarized dermoscopy (Figure 2, D and E). Dermoscopy of chronic hyperkeratotic hyperpigmented plaques presented a mixture of gray-brown pigmentation along with dirty white scales and red globules (Figure 2F). Few resolved areas reveal whitish striations in a branching pattern with brown patches and linear red vessels on a white background (Figure 2, G and H).\nHer viral markers were non-reactive and patch test with Indian standard and footwear series was negative. However, serum albumin and serum zinc level were borderline low. Skin biopsy from the hyperkeratotic plaque revealed psoriasiform dermatitis (Figure 2I). She was prescribed a tablet zinc acetate 100 mg three times a day for 3 months to which the erythematous lesions, ulceration and edema responded well in 2 weeks. Topical super potent steroid was given for the hyperkeratotic lesions. There is no relapse at 3 months follow-up (Figure 2J). The clinical, dermoscopic and histopathologic findings along with supportive investigations and substantial improvement with oral zinc supplementation confirmed our diagnosis of NAE.",
"gender": "Female"
}
] |
PMC10868904
|
[
{
"age": 29,
"case_id": "PMC10764090_01",
"case_text": "The patient was a 29-year-old Japanese man who was referred to our hospital because of persistent microscopic hematuria and proteinuria. He had a significant familial history of abnormal urinalysis. His maternal and paternal grandmothers had proteinuria and hematuria, his mother had both hematuria and proteinuria since she was a teenager, and his sister also presented with microscopic hematuria. However, none of the family members had kidney impairment. The pedigree of the patient's family is shown in Figure 1.\nUpon admission, body temperature was 36.8 C and blood pressure was 125/83 mm Hg. Optometry and otolaryngologic examinations revealed no abnormalities, although the patient subsequently developed sensorineural hearing loss. Physical examination findings were unremarkable for the heart, lungs, abdomen, and nervous system. Laboratory and urinary data at the time of admission are shown in Table 1. Urinalysis indicated proteinuria (3+) and occult blood (2+), and a spot urine protein/creatine ratio of 2.30 g/gCr. Serum creatinine was 0.90 mg/dL, estimated glomerular filtration rate was 87.45 mL/min/1.73 m2, blood urea nitrogen was 14 mg/dL, and albumin was 4.0 g/dL. Serum C3 and C4 were 111 and 20.5 mg/dL, respectively.\nDue to these findings, a kidney biopsy was performed. Light microscopy revealed 21 glomeruli, of which 4 exhibited global glomerulosclerosis and 4 exhibited segmental sclerosis of the collapsed type. All other glomeruli showed no significant alterations. Interstitial fibrosis and foam cells were apparent on periodic acid-Schiff staining (Fig. 2a). Immunofluorescence staining for IgG, IgA, IgM, C1q, C3, and fibrinogen was not significant. Double immunofluorescence staining for alpha1 (red) and alpha5 (green) showed that the GBM and Bowman's capsule were negative for alpha5 (Fig. 2b). Electron microscopy revealed irregular thickening with lamellation and segmental thinning of the GBM (Fig. 2c, d).\nBased on his family history and findings suggestive of AS, a genetic evaluation was performed using comprehensive sequence analysis of multiple podocyte related genes, including COL4A3, COL4A4, and COL4A5, in the patient. Variants were validated using Sanger sequencing in the pedigree analysis, with sequencing of 193 genes. The target bases were covered at a depth of more than 100 folds, with 100% coverage. The mean base-read-depth was 460-fold in COL4A3, 447-fold in COL4A4, and 241-fold in COL4A5. This study was approved by the Institutional Review Board of Kobe University of Medicine, and written informed consent was obtained. Mutational analyses of COL4A3, COL4A4, and COL4A5 were performed using polymerase chain reaction and direct sequencing of genomic DNA for family members. The results showed that the patient had a compound heterozygous missense variant (c.827G>C; p.Gly276Ala) in exon 1 of COL4A4 and a hemizygous missense variant (c.4369G>C; p.Gly1457Arg) in exon 49 of COL4A5. Variants were also found in exon 1 of COL4A4 in his father, in exon 47 of COL4A5 in his mother, and in exons 1 and 47 of COL4A4 and COL4A5, respectively, in his sister (Fig. 3). According to the ACMG classification, the heterozygous missense variant c.827G>C was classified as pathogenic (PS1+PM1+PM2+PP2+PP3), and the hemizygous missense variant c.4351G>C was classified as likely pathogenic (PM1+PM2+PM5+PP2+PP3).",
"gender": "Male"
}
] |
PMC10764090
|
[
{
"age": 36,
"case_id": "PMC10858729_01",
"case_text": "The patient is a 36-year-old male with a past medical history of VGD, DM2 on the SGLT2 inhibitor empagliflozin, hepatocellular adenoma status post partial hepatectomy, obesity, and obstructive sleep apnea who presented to the hospital with nausea and right-sided abdominal pain that woke him up from sleep. The patient reported that he felt like his \"liver was bouncing\" and that the pain was significantly worse than his chronic right upper quadrant pain. He had a decreased appetite, resulting in him missing two meals. He also reported an episode of non-bloody, non-bilious vomiting, after which his mother measured his blood glucose at 30 mg/dL, prompting his presentation to the hospital emergency department. He denied cough, shortness of breath, chest pain, diarrhea, constipation, or changes in urination in the days leading up to admission.\nIn the emergency department, the patient had a maximum heart rate of 114 beats/min, blood pressure of 136/65 mmHg, a temperature of 37.1 C, and oxygen saturation of 97% in ambient air. Examination findings were remarkable for minimal right upper quadrant tenderness and hepatomegaly. Cardiovascular, respiratory, and neurological exams were unremarkable.\nAt admission, laboratory studies showed mild neutrophilic leukocytosis (white cell count: 12.6 x 109/L, reference range: 4.0-11.0 x 109/L), macrocytic anemia (hemoglobin: 13.1 g/dL, reference range: 13.5-17.5 g/dL), normal platelet count, elevated aspartate aminotransferase (89 U/L, reference range: 0-37 U/L), elevated alanine aminotransferase (66 U/L, reference range: 6-37 U/L), and elevated blood alkaline phosphatase (378 U/L, reference range: 40-129 U/L). Total bilirubin was mildly elevated (1.9 mg/dL, reference range: 0-1.2 mg/dL). Serum glucose was extremely low (19 mg/dL, reference range: 70-99 mg/dL). Total protein, lipase, ammonia, potassium, sodium, vitamin B12, and folate were in the reference range.\nAdditional studies revealed an elevated beta-hydroxybutyrate (4.96 mmol/L, reference range: 0.02-0.27 mmol/L), elevated lactate (17 mmol/L, reference range: 0.7-2.5 mmol/L), venous pH of 7.12 (reference range: 7.32-7.42), bicarbonate of 9 mmol/L (reference range: 23-32 mmol/L), and high anion gap of 35 (reference range: 9-18 mmol/L). Urinalysis showed ketonuria (80 mg/dL, reference range: negative), proteinuria (100 mg/dL, reference range: negative), and glucosuria (500 mg/dL, reference range: negative). Influenza A/B, respiratory syncytial virus (RSV), and COVID-19 by PCR were negative. Urine and blood cultures did not yield any bacterial growth. Right upper quadrant ultrasound showed mild splenomegaly, evidence of prior cholecystectomy, and no intrahepatic or extrahepatic biliary duct dilation. Computed tomography (CT) of the abdomen and pelvis did not show any acute findings. Magnetic resonance cholangiopancreatography (MRCP) showed postoperative changes related to right hepatectomy and left lateral partial resection. There were also multiple arterially hyper-enhancing lesions in the left hepatic lobe, the largest in hepatic segment 3 measuring up to 1.8 cm, not significantly changed when compared to prior examination (Figure 1). These were favored to represent small adenomas.\nBased on the patient's initial presentation, the differential diagnosis included DKA and acute biliary obstruction. Other potential explanations for the patient's symptoms at the time of presentation included pancreatitis, acute liver infarct, ruptured hepatic adenoma, peptic ulcer disease, gastritis, and ischemic colitis, all being less likely given clinical history, minimal abdominal pain on the exam, and imaging results. Our patient presented with a point-of-care glucose of 12 mg/dL, thought to be precipitated by his glycogen storage disease in the setting of a history of partial hepatectomy. Low serum glucose level was consistent with point-of-care testing. The rest of his comprehensive metabolic panel and his elevated serum ketones and acidic venous pH established the definite diagnosis of SGLT2 inhibitor-induced euglycemic DKA with lactic acidosis presenting as hypoglycemia.\nThe patient was resuscitated with intravenous (IV) isotonic saline to correct his lactic acidosis. He was subsequently started on DKA protocol with an infusion at 0.1 units/kg/h. Dextrose 5% mixed with 0.45% normal saline infusion was placed to maintain the blood glucose goal between 140 and 180 mg/dL. The infusate was later switched to dextrose 10% with 0.45% normal saline infusion due to persistent hypoglycemia. Basic metabolic profile (BMP), magnesium, and phosphate were checked every four hours for electrolyte replacement. Once the anion gap closed, the patient was transitioned to long-acting and short-acting insulin based on a sliding scale. Empagliflozin was discontinued from the time of admission. Gastroenterology was consulted to perform an esophagogastroduodenoscopy (EGD) due to persistent vomiting at admission. EGD was unremarkable. Given his mild abdominal pain and recent abdominal surgery, a colonoscopy was performed, which revealed sigmoid diverticulosis and small internal hemorrhoids. Pathology from right and left colon biopsies showed focal active colitis (FAC). Diabetic education was provided while in the hospital. The patient was hospitalized for seven days and discharged home on insulin therapy. He was advised not to use empagliflozin at discharge. He was sent home with no neurologic sequelae. The patient was counseled about the risks, prevention, and treatment of hypoglycemia. Following treatment with insulin infusion and IV fluids, lactic acid and metabolic acidosis returned to normal. All his symptoms significantly improved at the time of discharge. He underwent physical and occupational therapy while in the hospital, gradually returning to his baseline activity. One week later, the patient followed up with his primary care provider and reported a complete resolution of symptoms. The patient did not have any neurological sequelae noted during follow-up.",
"gender": "Male"
}
] |
PMC10858729
|
[
{
"age": 41,
"case_id": "PMC10612506_01",
"case_text": "Case 1 was a 41-year-old eutrophic healthy woman who presented a square-shape buttocks. She was assessed as having grade 2 cellulite, moderate skin laxity, and a bespoke demand for improvement in laxity. Her treatment included 12 mL of CaHA (eight syringes). The results after 90 days and the scheme of application are presented in Figures 1 and 2. The patient expression satisfaction with the final results of the procedure as 7 out of 10.",
"gender": "Female"
},
{
"age": 38,
"case_id": "PMC10612506_02",
"case_text": "Case 2 was a 38-year-old eutrophic healthy woman who presented with A-shaped buttocks. She was assessed as having grade 2 cellulite, moderate skin laxity, and a bespoke demand for improvement in laxity. Her treatment required 20 syringes of CaHA (30 mL). The results after 90 days and the application strategy are presented in Figures 3 and 4. The patient expression satisfaction with the final results of the procedure as 10 out of 10.",
"gender": "Female"
},
{
"age": 26,
"case_id": "PMC10612506_03",
"case_text": "Case 3 was a 26-year-old eutrophic healthy woman who presented with round-shaped buttocks. She was assessed as having grade 1 cellulite, mild skin laxity, and a bespoke demand for improvement in contour. Her treatment required 10 syringes of CaHA (15 mL). The results after 90 days and the application strategy are presented in Figures 5 and 6. The patient expression satisfaction with the final results of the procedure as 8 out of 10.",
"gender": "Female"
},
{
"age": 23,
"case_id": "PMC10612506_04",
"case_text": "Case 4 was a 23-year-old eutrophic healthy woman who presented with A-shaped buttocks. She was assessed as having grade 2 cellulite, mild skin laxity, and a bespoke demand for improvement in contour. Her treatment required 12 syringes of CaHA (18 mL). The results after 90 days and the application strategy are presented in Figures 7 and 8. The patient expressed satisfaction with the final results of the procedure as 8 out of 10.",
"gender": "Female"
},
{
"age": 44,
"case_id": "PMC10612506_05",
"case_text": "Case 5 was a 44-year-old eutrophic healthy woman who presented with A-shaped buttocks. She was assessed as having grade 2 cellulite, moderate skin laxity, and a bespoke demand for improvement in laxity. Her treatment required 13 syringes of CaHA (19.5 mL). The results after 90 days and the application strategy are presented in Figures 9 and 10. The patient expressed satisfaction with the final results of the procedure as 10 out of 10.",
"gender": "Female"
},
{
"age": 42,
"case_id": "PMC10612506_06",
"case_text": "Case 6 was a 42-year-old eutrophic healthy man who presented with square-shaped buttocks. He was assessed as having moderate skin laxity and a bespoke demand for improvement in laxity and contour. His treatment required 18 syringes of CaHA (27 mL), divided into three monthly sessions. The results after 180 days and the application strategy are presented in Figures 11 and 12. The patient expressed satisfaction with the final results of the procedure as 10 out of 10.",
"gender": "Male"
},
{
"age": 42,
"case_id": "PMC10612506_07",
"case_text": "Case 7 was a 42-year-old eutrophic healthy woman who presented round-shaped buttocks. She was assessed as having grade 2 cellulite, moderate skin laxity, and a bespoke demand for improvement in asymmetry, cellulite, and contour. Her treatment required 14 syringes of CaHA (21 mL). The results after 90 days and the application strategy are presented in Figures 13 and 14. The patient expressed satisfaction with the final results of the procedure as 10 out of 10.",
"gender": "Female"
}
] |
PMC10612506
|
[
{
"age": 39,
"case_id": "PMC11419575_01",
"case_text": "A 39-year-old female presented to the emergency department with complaints of difficulty swallowing solids and liquids, along with cough and breathlessness on exertion for the past 30 days. The patient gave a history of carcinoma of the tongue for which she was operated and had received radiotherapy 2 years back. The patient was admitted for further evaluation and fibre optic flexible bronchoscopy showed significant laryngeal stenosis and the bronchoscope could not be negotiated further through the vocal cords. Esophageal stenosis was also noted, along with multiple rounded 0.5x0.5 cm mass lesions at the proximal esophageal opening. Biopsy was taken, which was suggestive of well-differentiated squamous cell carcinoma. Post-radiotherapy laryngeal and esophageal stenosis can occur as a complication of radiation therapy aimed at treating cancers in the head and neck region. Radiation therapy, while effective in targeting cancer cells, can also affect nearby healthy tissues, leading to inflammation, fibrosis, and reduced elasticity of the tissues in the throat and esophagus. Symptoms may include hoarseness, coughing, choking, difficulty swallowing, pain during swallowing, shortness of breath, and a sensation of something stuck in the throat. Treatment options may include speech therapy, dilation procedures, surgical intervention, or a combination of these approaches, depending on the severity and specific manifestations of stenosis.",
"gender": "Female"
}
] |
PMC11419575
|
[
{
"age": 68,
"case_id": "PMC11306154_01",
"case_text": "A 68-year-old female patient presented at our hospital on 28 May 2023, with a chief complaint of \"low back pain with left lower limb pain for 2 weeks.\" Upon specialized physical examination, she exhibited a normal gait upon entering the ward. The patients reported left lumbar back pressure pain without radiation to the lower limb. Examination of the lumbar spine indicated normal flexion and extension activity, with left quadriceps muscle strength graded at level IV. Sensation in the lower limbs and saddle area was intact, alongside normal muscle tension. Bilateral heel-knee tendon reflexes were within normal limits, with no pathological signs detected. Normal skin temperature and color were normal in the right axilla. Palpitation revealed soft masses approximately 5 cm x 3 cm in depth, with indistinct boundaries, absence of tenderness, and immobility. Subsequent lumbar spine X-ray depicted slight flattening of the lumbar vertebra 4 (L4) vertebral body ( Figure 1A ). Computed tomographic (CT) imaging of the lumbar spine revealed flattening of the L4 vertebral body, thin and discontinuous bone cortex, and osteolytic bone destruction on the left side of the vertebra, measuring approximately 3.0 cm x 2.0 cm x 2.2 cm ( Figure 1B ). No compression of the dural sac or significant abnormalities in the surrounding soft tissue were noted. Lung CT revealed distinctive insect-like patterns of local bone destruction affecting thoracic vertebra 4 (T4) and the right first rib, with irregular soft tissue density shadows observed in the right armpit ( Figure 2B ). Lumbar magnetic resonance imaging (MRI) displayed an uneven bone damage signal in the L4 vertebral body ( Figure 1E ). Ultrasonography detected a low-echo mass measuring approximately 32 mm x 26 mm, featuring clear boundaries and an irregular shape, exhibiting uneven internal echoes and the characteristic \"rat tail sign\" at both ends in the right axilla ( Figure 2A ). Emission computed tomography (ECT) scans revealed multiple abnormal focal nuclide concentrations in the right first rib, L4 vertebral body, and right iliac bone, consistent with bone metastases ( Figure 3 ). To determine the nature and origin of the tumors, a CT-guided puncture biopsy of the right iliac bone tumor was conducted on 29 May 2023, revealing a short spindle-cell malignant mesenchymal tumor suggestive of MPNST upon immunohistochemistry and staining ( Figure 4A ). Subsequently, on 6 June 2023, an ultrasound-guided puncture biopsy of the right axillary soft tissue tumor confirmed MPNST ( Figure 4B ). The final diagnosis was MPNST with multiple metastases.\nFollowing thorough departmental deliberation, initiation of a chemotherapy regimen combining cisplatin with doxorubicin was decided upon. Given the predominant imaging findings of osteolytic bone destruction, denosumab, FDA-approved for preventing skeletal-related events in patients with bone metastasis from solid tumors, was adjunctively administered to inhibit osteolysis. The treatment protocol combined chemotherapy (AP regimen cisplatin (DDP) 120mg/m2/day x1 day + pegylated liposomal doxorubicin (PLD) 40 mg/m2/day x 1 day, once every 21 days) with denosumab (120 mg, subcutaneous injection, once/4 weeks), supplemented with Vitamin D3 (600 mug daily). Throughout the treatment course, the patient experienced significant alleviation of pain symptoms compared to admission, improved sleep without medication assistance, and absence of drug-related adverse reactions. Regular imaging assessments performed before each admission facilitated the evaluation of the combination therapy's efficacy. Following the completion of six cycles of chemotherapy, pulmonary CT scans evidenced a gradual reduction in the maximum diameter of the irregular soft tissue mass under the right axilla ( Figure 2C ), while lumbar spine CT exhibited thickening and densification of the bone cortex surrounding the L4 vertebral body, accompanied by evident bone formation and scattered calcification shadows in the area of osteolytic bone destruction ( Figure 1C ).\nOn 18 October 2023, the patient completed six cycles of chemotherapy combined with denosumab treatment, with lung CT indicating an absence of lung metastasis. Evaluation of the soft tissue mass in the right armpit, designated as the target lesion according to RECIST 1.1 criteria, revealed stable disease. To inhibit disease progression post-cessation of intensive chemotherapy cycles, the patient was prescribed the oral targeted drug anlotinib (12 mg/day, taken for 2 weeks followed by a 1-week break) to enhance chemotherapy sensitization and prevent disease progression. Denosumab (120 mg, subcutaneous injection, once every 4 weeks) was continued to enhance bone strength. Presently, the patient has endured the tumor for 10 months. Regular follow-up visits every 3 months for lung and lumbar CT scans were advised to monitor therapeutic efficacy and adjust the medication regimen as necessary. On 20 February 2024, a re-examination CT revealed prominent calcification in the area of bone destruction in the L4 vertebral body ( Figure 1D ), with no significant alteration in the maximum diameter of the axillary mass compared to the previous scan ( Figure 2D ).",
"gender": "Female"
}
] |
PMC11306154
|
[
{
"age": 23,
"case_id": "PMC10878678_01",
"case_text": "The patient is a 23-year-old female, height 165 cm, weight 36 kg, who was diagnosed with mitochondrial myopathy due to the homozygous variant c.553C>T in exon 6 of the MICU1 gene. The patient presented with developmental delay at the age of three and cognitive impairment that manifested first in elementary school (Table 1). For this reason, she moved to a special school, which she attended for the next 12 years with below-average academic performance. At the age of 12, she developed gait disturbance due to weakness in the right lower extremities. Her medical history was also positive for recurrent abdominal pain, but clinical examination, blood tests, and abdominal ultrasound were repeatedly normal. Family history revealed no evidence of cerebral, muscle, or cardiac disease, but her parents were first-degree cousins. The parents, brother, and two sisters were phenotypically unaffected.\nClinical neurological examination at the age of 14 years revealed startleness but no hyperekplexia, social withdrawal, avoidance of eye contact, general wasting, and hyperkyphosis of the thoracic spine. Blood tests revealed recurrent mild elevation of creatine-kinase. Needle electromyography was normal in muscles with and without weakness. Nerve conduction studies were normal. A muscle biopsy from the left biceps muscle revealed only nonspecific changes. The cerebral CT was normal. The EEG only showed increased background slowing (diffuse, intermittent theta waves without drowsiness). Neuropsychological testing revealed adjustment disorders, anxiety, depression, moderate intellectual disability, a negative self-image, and feelings of being unloved. Genetic testing revealed the homozygous variant c.553C>T in exon 6 of the MICU1 gene.\nA second neurological examination was performed at the age of 23 years because the patient reported recurrent diplopia when looking in all directions but without diurnal fluctuations for three years. She presented as a depressed, anxious, taciturn woman who followed instructions correctly but inconsistently. Her face was mildly dysmorphic with dolichocephalus, hypertelorism, strabismus, and mild ptosis bilaterally (Figure 1). She was near-sighted and had significant muscle soreness in her neck. There was no ophthalmoparesis. In the upper limbs, there was distal muscle weakness of the hand and finger muscle (M5-), diffuse wasting, arachnodactyly, clinodactyly (Figure 2), hypotonia, hyperextensible finger and wrist joints, decreased tendon reflexes, and a positive snap reflex on the left side. In the lower limbs, there was discrete dorsiflexion weakness bilaterally, reduced tendon reflexes, and diffuse muscle wasting, but without fasciculations, pseudohypertrophy, or sensory disturbances. She had mild ataxia and had difficulty performing the Unterberger treadmill test correctly and staying on line while walking with her eyes open. It was impossible to walk on the line with her eyes closed. She did not have cachexia. Blood tests revealed erythrocytosis, neutrophilia, lymphopenia, hyperbilirubinemia, mildly elevated transaminases, and mild elevation of creatine-kinase. Tests for vasculitis were normal. Needle electromyography, nerve conduction studies, and repetitive nerve stimulation were normal. Antibodies against acetylcholine receptors and MUSK were negative. MRI of the orbita was normal. Abdominal ultrasound was normal.\nHer current medication included escitalopram (10 mg/d), mirtazapine (15 mg/d), and tizanidine (2 mg/d). She benefited from regular physical therapy, speech therapy, and behavioral therapy.",
"gender": "Female"
}
] |
PMC10878678
|
[
{
"age": 49,
"case_id": "PMC10607559_01",
"case_text": "A 49-year-old male patient presented with non-specific symptoms, including abdominal pain and bloating. Physical examination revealed no specific findings except mild tenderness upon palpation in the right upper quadrant. Modest derangements in liver function parameters and increased lipid profiles were noted in the patient's medical records. To elucidate the etiology of the symptoms, an abdominal ultrasound (USG) was conducted. Abdominal USG revealed a hypoechoic solid lesion measuring approximately 5 x 4 cm, situated within segments 2-3 of the hepatic parenchyma. This lesion was observed on a background of fatty liver tissue.\nSubsequently, a dynamic contrast-enhanced abdominal computed tomography (CT) scan was conducted to provide a more comprehensive evaluation of the lesion. In this dynamic assessment, a hyperdense area was observed in liver segments 2-3, distinct from the surrounding hepatic parenchyma, both in the pre-contrast phase and subsequent phases. While the density of this area was higher than the surrounding parenchyma in the contrast phase, it was similarly contrast-enhanced, resembling the parenchyma. During the venous phase, it was noted that ALGV terminated within this area of the parenchyma. This pseudolesion appearance was attributed to abnormal venous drainage (Figure 1).\nAfter this, the patient underwent dynamic magnetic resonance imaging (MRI) of the upper abdomen. The absence of signal loss in the out-of-phase magnetic resonance imaging (MRI) sequence supported the diagnosis of focal fatty sparing. In other sequences of the MRI, a distinct signal was observed within this area due to abnormal venous drainage, setting it apart from the surrounding parenchyma (Figure 2).\nIn this case, we advised lifestyle changes, including a balanced diet, exercise, medical supervision, medication as needed, and avoiding alcohol. Patient education and a collaborative healthcare approach were essential for effective management.",
"gender": "Male"
}
] |
PMC10607559
|
[
{
"age": 29,
"case_id": "PMC11419792_01",
"case_text": "We present the case of a 29-year-old female patient with an established diagnosis of hypothyroidism who has been treated with levothyroxine since the diagnosis. She came to the otolaryngology clinic with a five-year history of a right nasal mass. The mass has been gradually growing, remains painless, and nonpulsatile. The patient's primary concern was the disfiguring appearance of the mass, which had a negative impact on her quality of life. She reported no other symptoms, such as changes in skin pigmentation or nasal cavity blockage. Notably, both nasal cavities were identical in size, and there was no family history of such disorders. Importantly, the patient had not undergone therapy for the mass previous to this appointment and reported no associated comorbidities.\nA general physical checkup revealed no abnormalities. The neurological examinations were within normal. A nasal examination revealed an external enlargement on the right nasal ala, which extended from the right lower lateral cartilage to the right upper lateral cartilage (Figure 1). The tumor was spherical, cystic, movable, and nontender and showed no redness or infection. Lymph node examination was unremarkable.\nA contrast-enhanced computed tomography (CT) was done, demonstrating isolated poorly defined soft tissue swelling within the right-sided lateral nasal wall anteriorly. There was a mild heterogeneous contrast enhancement but no clear expansion to surrounding structures (Figure 2). Further assessment with magnetic resonance imaging (MRI) confirmed the presence of an oval lesion approximately 0.5 x 0.7 cm in size, with isointense signals across all pulse sequences and homogenous postcontrast enhancement. The tumor was surrounded by distinct fat planes, with no invasion of the nasal septum or any nearby structures (Figure 3). The MRI also revealed a modest increase in the size, signal intensity, and enhancement patterns when compared to a previous MRI performed in 2018, providing a baseline for assessing the growth rate. The surgical option, including potential risks and advantages, was reviewed with the patient, who later agreed to the operation.\nThe patient underwent open rhinoplasty with excision of the right nasal mass under general anesthesia. A midcolumellar incision at the waist of the nasal columella was made, followed by bilateral marginal incisions. A sub-SMAS dissection technique was utilized, and the nasal skin flap was extended laterally to achieve adequate exposure of the mass. Operative findings were consistent with the radiological impressions. The mass was meticulously dissected from the surrounding structures and completely excised (Figure 4). The excised tissue was sent for histopathological examination. Closure was achieved using monocryl 5-0 sutures for the transcolumellar and marginal incisions, respectively, preserving all major supports of the nasal tip. Postoperative management included nasal taping and splint application. The patient's recovery was uneventful, with satisfactory aesthetic and functional outcomes, leading to her discharge with appropriate home medications.\nPostoperative histopathological analysis of the excised specimen was suggestive of a peripheral nerve sheath tumor (PNST) (Figure 5).\nThe patient was followed up regularly in our outpatient clinic for eight months postsurgery. During each visit, we performed two-point discrimination testing around the mass, she was evaluated for any signs of recurrence or complications, and none were observed. The patient reported significant improvement in her quality of life and satisfaction with the cosmetic results of the surgery.",
"gender": "Female"
}
] |
PMC11419792
|
[
{
"age": 16,
"case_id": "PMC10602705_01",
"case_text": "Patient 1: A 16 years 5-month-old non-Hispanic Black male presented with tingling sensations, initially involving hands and feet and later spreading to his entire body over the week prior to presentation and generalized muscle cramps. Polymerase chain reaction (PCR) testing for COVID-19 infection was negative at the time of presentation. His past medical history was significant for evaluation of malnutrition by gastroenterology with work up including unremarkable colonoscopy and normal inflammatory markers. His diet included bread, popcorn, pizzas, barbeque chicken, and chicken nuggets and lacked dairy products. He had an underweight BMI at the 1.1 percentile (target BMI >=5th to < 85th percentile). He had stable vitals and positive Chvostek sign.",
"gender": "Male"
},
{
"age": 0,
"case_id": "PMC10602705_02",
"case_text": "Patient 2: A 14 years 2.5-month-old Hispanic male presented with worsening muscle cramps of 3 months duration. Symptoms started while recovering from COVID-19 infection diagnosed by PCR testing, initially as leg cramps lasting for few seconds which worsened in terms of duration, frequency, and severity over the next 3 months to multiple daily episodes of cramps involving his jaw, arms, and legs, and carpal spasms lasting about an hour. He also endorsed tingling sensations all over the body. He was an otherwise healthy child. His diet included bread, fruits, and vegetables mainly with occasional cheese, yogurt, and chicken nuggets. Examination revealed a very anxious adolescent with tachycardia, elevated blood pressure (122/78 mm Hg), BMI at the 86.5 percentile (overweight), and positive Trousseau sign. He was negative for COVID-19 infection at presentation.",
"gender": "Male"
},
{
"age": 16,
"case_id": "PMC10602705_03",
"case_text": "Patient 3: A 16 years 3-month-old Hispanic male presented with abdominal pain, vomiting, paresthesia, and tingling sensations involving the upper extremities of 2 days duration. His past medical history was noncontributory. His diet included pizza and chicken nuggets and lacked dairy products. On examination, he was febrile, normotensive with bilateral carpal spasms. His BMI was at the 55.1 percentile. His PCR test for COVID-19 was positive.\nAll reported limited sun exposure owing to the COVID-19 pandemic and more time spent indoors. None of them were taking calcium or vitamin D supplements.\nLaboratory work up confirmed VDD in all patients. Patient 2 also had iron deficiency anemia. Family members were not screened for VDD or hypocalcemia. Patient 1 was started on oral calcium carbonate (elemental calcium 100 mg/kg/day); vitamin D3 5000 units weekly for eight weeks was initiated on day 2, once serum calcium was above 7 mg/dl. He was discharged on day 2. Patients 2 and 3 were started on continuous calcium gluconate infusion (2 gram of calcium/L) along with oral calcium carbonate (100 mg of elemental Ca/kg/day), oral calcitriol 0.25 mcg twice daily for 3-6 days, and ergocalciferol 50,000 units once weekly for 8 weeks. For patients 2 and 3, calcium gluconate infusion was weaned and discontinued after two days once serum calcium concentrations improved. Following hospital discharge, patients 2 and 3 remained asymptomatic with normal Ca and Vitamin D levels. Patient 1 was lost to follow up.",
"gender": "Male"
}
] |
PMC10602705
|
[
{
"age": 0,
"case_id": "PMC11102793_01",
"case_text": "An 8-month-old male British Shorthair domestic cat was referred to a private veterinary clinic with respiratory distress and abdominal breathing. Unfortunately, the cat's condition was deteriorated, and the animal passed away 12 hr after admission. With the owner's consent, the cat was sent to the Department of Pathology, Faculty of Veterinary Medicine, Selcuk University, Konya, Turkiye, for necropsy and pathological examinations. \nDuring systemic necropsy, white round foci with diameters ranging from 3.00 to 5.00 mm were observed in the lung (Fig. 1A) and spleen (Fig. 1B). Additionally, hydrothorax and hydropericardium were identified. Meningeal hyperemia as well as hepatic and renal degenerations were also observed. No macroscopically pathological findings were observed in the lymph nodes or other organs.\nFor histopathological examination, tissue samples taken from lung, spleen, liver, heart, kidney, mediastinal lymph nodes and brain were fixed in 10.00% neutral buffered formaldehyde solution. Tissues were embedded in paraffin after routine histopathological tissue processing and sections having 5.00 mum thickness were prepared from the paraffin blocks using microtome (Leica RM2125, Germany) and stained with Hematoxylin and Eosin (H & E) and Ziehl-Neelsen (ZN). Selected sections were also immunohistochemically stained with the anti-M. tuberculosis antibody (1:100; Abcam, Cambridge, UK) according to the previously reported method in the immunohistochemistry staining device (Bond-Max; Leica Biosystems, Deer Park, United States) using the BondTM polymer refine detection kit (DS9800; Leica Biosystems, Deer Park, United States) procedure. In negative controls, phosphate-buffered saline was used instead of primer antibody. Microscopic slides were examined by binocular light microscope (BX51; Olympus Tokyo, Japan) and photographed (EP50; Olympus, Tokyo, Japan). \nMicroscopically, multi-focal nodular areas consisting of necrosis without fibrous capsule and karyorrhectic cells were also identified in the lung (Figs 2A, and 2B) and spleen (Fig. 2C). These tuberculous lesions were widely observed in the lung and spleen. Several lymphohistiocytic cell infiltrations were observed around the nodular areas. While there were very few epithelioid histiocytes around the lesions in the lung and spleen, no giant cell type was found. In the liver, hepatocytes degeneration and mononuclear cell infiltration in the portal area were obvious. In the kidney, tubular degeneration and amyloid-like accumulations in the glomeruli were detected. In addition, hyperemia and inflammatory cell infiltration were seen in the meninges. No histopathological alteration was found in the heart and mediastinal lymph nodes.\nThe ZN staining of lung (Fig. 2D) and spleen (Fig. 2E) sections revealed acid-fast bacteria presence in the areas of exudative type caseous necrosis. No acid-fast bacterium was found following ZN staining of other organs. Immunohistochemical staining of lung (Fig. 2F) and spleen sections revealed positive immunostaining using Mycobacterium spp. antibody, particularly in areas of necrosis.",
"gender": "Male"
}
] |
PMC11102793
|
[
{
"age": 0,
"case_id": "PMC11149648_01",
"case_text": "A 10-month-old Sudanese male infant (Figure 1; the proband, IV-8) was brought to our pediatric immunology department with a history of fever and recurrent chest infections for the past six months. His parents (Figure 1; III-7, III-8) are 1st degree consanguineous. There is a family history of recurrent chest infections requiring hospitalizations and intravenous antibiotics, along with recurrent oral thrush. The family reported three infantile deaths due to undiagnosed febrile illness (Figure 1; IV-7, IV-9, IV-11) as well as recurrent febrile illness with convulsions (Figure 1; IV-4). The proband had received all vaccinations recommended for his age. On physical examination, he appeared very ill with respiratory distress, and he required oxygen therapy at five liters/minute via face mask to maintain normal oxygen saturation. The patient's weight was below the 3rd percentile, while his height and head circumference were on the 10th and 25th percentiles, respectively. His abdomen was slightly distended, and hepatomegaly was noted, with a palpable liver at two centimeters below the costal margin. Bilateral wheezing with poor air entry was noted during chest examination. Examination of the BCG vaccine site revealed a discharging sinus with an enlarged axillary lymph node on the same side, measuring 3 x 2.5 cm; chest X-ray showed bilateral pneumonic infiltrates, while abdominal ultrasound was normal apart from an enlarged liver. \nThe possibility of disseminated BCG infection with probable immunodeficiency was discussed as a potential diagnosis for this patient. Smears from gastric lavage fluid were collected over two consecutive days, were negative for acid-fast bacilli. However, the fine needle aspiration cytology (FNAC) tissue (lymph-node) displayed caseating granuloma, and both blood and sputum polymerase chain reaction (PCR) using two primers (IS6110 & mtp40) were positive to M. tuberculosis complex, most likely M. bovis based on the patient's history and examination findings. Further workup revealed a normocytic-normochromic red blood cell count of 8.9 g/dL, and Immunophenotyping analysis is shown in (Table 1).",
"gender": "Male"
}
] |
PMC11149648
|
[
{
"age": 24,
"case_id": "PMC11408919_01",
"case_text": "A 24-year-old woman was referred to our hospital with joint pain, fever, abdominal pain, polyarthralgia predominantly in the shoulder and the hip joints, and five episodes of diarrhea per day for 2 months. The symptoms would disappear after several days, and a similar cycle repeated every few weeks. She had a history of hemorrhoid surgery 3 years prior. She did not have a family history of inflammatory bowel disease (IBD) or FMF. Laboratory tests at the time of admission revealed markedly elevated serum C-reactive protein (CRP) and amyloid A protein, hypoalbuminemia, slight anemia, and thrombocytosis (Table 1). Her stool and blood were negative for any pathogens.\nContrast-enhanced computed tomography showed hyperenhancement of the bowel wall in the lower ileum and colon. A colonoscopy revealed multiple round ulcers scattered throughout the entire colon, longitudinal ulcers with an apparent cobblestone appearance in the descending colon and sigmoid colon, and a perianal abscess in the rectum. There were no visible lesions in the terminal ileum (Figure 1). Histologic examination of the biopsy specimens obtained from the margins of the ulcers showed inflammatory cell infiltration in the mucosa without any evidence of epithelioid cell granuloma or amyloidosis. Intestinal tuberculosis, cytomegalovirus enteritis, and other infectious diseases were excluded. Esophagogastroduodenoscopy with multiple biopsies did not show any findings compatible with CD. Based on the colonoscopic findings, we made a tentative diagnosis of CD and started intravenous infliximab, plus 3000 mg per day of 5-aminosalicylic acid (ASA), and azathioprine (Figure 2).\nOver the next 40 weeks, the patient experienced repeated fevers, episodes of abdominal pain, diarrhea, and increased CRP levels. We suspected 5-ASA intolerance and discontinued the medication, but she continued to experience fevers. We next tried intensifying the dose of infliximab, stepping it up every 4 weeks, but this was ineffective. Follow-up colonoscopy 5 months after the dose escalation showed drastic visual changes. There was now diffusely granular and friable mucosa with loss of vascularity throughout the entire large bowel, including the rectum (Figure 3). Biopsy specimens showed crypt distortion, crypt abscesses, and dense infiltration of inflammatory cells in the mucosa. The colonoscopic and histologic findings suggested a diagnosis of UC. Such drastic visual and tissue findings led us to search for other causes of intestinal inflammation. She did not have any symptoms suggestive of Bechet's disease including ileal ulcers, oral apthosis, uveitis, genital ulcers, and skin lesions.\nAlthough she did not meet the major Tel-Hashomer criteria, she had at least two of the minor and one of the supportive criteria. Thus, we suspected the possibility of FMF as a differential diagnosis of IBD-U.\nWe checked the MEFV gene and found compound heterozygous variants of E148Q and L110P in exon 2. Based on these results, we added 0.5 mg of colchicine per day to her regimen, then increased the dose to 1.0-1.5 mg per day and discontinued azathioprine. The patient became afebrile, and her episodes of diarrhea resolved. The serum CRP levels have remained within normal limits on periodic follow-ups.",
"gender": "Female"
}
] |
PMC11408919
|
[
{
"age": 71,
"case_id": "PMC10893981_01",
"case_text": "A 71-year-old man with an otherwise non-contributory past medical history receiving carboplatin for the treatment of neuroendocrine-derived bladder cancer presented with acute visual vision loss over 72 hours. His precipitous visual decline began one week before after he completed the third of four total carboplatin treatment cycles. The patient's chemotherapy regimen occurred every three weeks; he received 1 mL/day of carboplatin (10 mg/mL) for three consecutive days during these treatment weeks. A total of four cycles were planned. Upon initial presentation to our clinic, the patient reported severely blurry vision with light perception in his left eye with comparatively better, albeit still distorted, vision in his right eye.\nOn exam, visual acuity had declined to light perception only in the left eye and 20/60 in the right eye. The left pupil was nonreactive and the right was sluggish. Extraocular movements were intact without evidence of orbital congestion. Alignment was orthophoric with full ductions and versions. Fundus examination showed bilateral grade 2 disc head swelling without hemorrhage; foveal reflexes and retinas appeared normal. No scotomas, photopsia, or metamorphopsia was present. Visual field examination revealed an inferior altitudinal defect extending through the fixation of the right eye, as shown in Figure 1. Disc head swelling was confirmed with optical coherence tomography (OCT) and is depicted in Figure 2. The neurologic exam was otherwise unremarkable.\nLabs were non-contributory; complete blood count, complete metabolic panel, inflammatory markers, and coagulation studies were all normal apart from minor renal insufficiency demonstrated by an elevated creatinine. Serum titers for paraneoplastic antibodies in addition to aquaporin-4 (AQP4-IgG) and myelin oligodendrocyte glycoprotein (MOG-IgG) immunoglobulins were negative. CT and MRI of the head with and without contrast were unremarkable and without any intracranial processes. No optic nerve enhancement was seen on imaging. Subsequent lumbar puncture was unremarkable with normal opening pressure and cell counts. The temporal artery biopsy was negative.\nCarboplatin treatment was immediately stopped and prednisone was initiated. The patient followed a tapered dosage schedule consisting of 80 mg daily for three weeks, followed by 60 mg daily for two weeks, 40 mg daily for two weeks, 30 mg daily for 10 days, 20 mg daily for 10 days, and finally 15 mg daily for 10 days. Despite this high-dose steroid therapy, physical re-examination eight weeks later showed minimal, partial recovery of the visual field of the right eye (Figure 3) and no improvement in visual acuity but the onset of optic atrophy in both eyes (Figure 4). This optic atrophy developed after observation of optic swelling was initially noted. Follow-up at one year showed no change in visual acuity in either eye.\nDifferential diagnoses\nIn this case, several other illnesses that might potentially cause acute visual failure were considered. Non-arteritic ischemic optic neuropathy (NAION) is common in this age group and can cause abrupt visual loss and disc swelling, sometimes bilaterally. However, our patient lacked systemic risk factors such as hypertension and hypercholesterolemia. Further, funduscopic examination and OCT showed an open cup-disc ratio of 0.3, indicating that he did not appear to have a \"disc at risk,\" ruling out a major risk factor for NAION, as disc at risk is suspected with a ratio of 0.2 or lower due to compression from optic disc edema. Lastly, the degree of visual loss is uncommon for NAION.\nGiant cell arteritis was considered, but an unremarkable temporal artery biopsy with normal levels of erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) ruled out this diagnosis. Neuromyelitis optica spectrum disorder (NMOSD) and myelin oligodendrocyte glycoprotein antibody disorder (MOGAD) were additionally considered. The more classic seropositive phenotypes were ruled out in light of the aforementioned negative antibody studies, and seronegative presentations were deemed highly unlikely given no evidence of characteristic lesion patterns on MRI. Considering a large proportion of NMOSD patients are without NMO IgG, unremarkable imaging and the lack of transverse myelitis, area postrema syndrome, or acute brainstem syndrome further ruled out a seronegative presentation. No paraneoplastic antibodies were detected. Both MRI and CT as well as lumbar puncture ruled out compressive/infiltrative processes and structural causes, such as sagittal sinus thrombosis. Idiopathic intracranial hypertension (IIH) seemed untenable given his age, sex, and normal lumbar puncture opening pressure result. Additionally, he has no IIH risk factors, and a rapidly progressive blinding optic neuropathy is not a manifestation, specifically because of how acute it was and how the patient did not have nystagmus, sixth cranial nerve (CN VI) palsy, tinnitus, or headache.",
"gender": "Male"
}
] |
PMC10893981
|
[
{
"age": 42,
"case_id": "PMC10858770_01",
"case_text": "A 42-year-old female was evaluated at the emergency department (ED) after experiencing a severe headache and sudden complete vision loss. Two years before, she was diagnosed with MM and treated with systemic chemotherapy and an ASCT. She was in remission; however, eight months before her current evaluation, a right intracranial occipital dural base lesion was identified, for which she received fractionated radiotherapy. Three months later, brain magnetic resonance imaging (MRI) showed a significant reduction in the lesion size. During the two months before her evaluation at the ED, she noticed a slow but progressive visual acuity loss; however, she did not seek medical attention until she developed complete vision loss. A new brain MRI at the ED demonstrated a sellar and suprasellar mass measuring 1.9 cm anteroposterior x 2.1 cm transverse x 3.2 cm craniocaudal, showing avid contrast enhancement causing significant compression on the optic chiasm superiorly [Figure 1]. The lesion had an invasion of the right cavernous sinus and extended inferiorly into the right sphenoid sinus and anteriorly into the ethmoidal air cells. A 2.4 cm parietal dural-based lesion and a 1.5 cm lesion at the splenium of the corpus callosum were also identified.\nOn physical examination, the patient had bilateral optic nerve swelling with no light perception. Bilateral six-nerve paresis was present. Motor and sensory examinations were normal. Due to the history of MM and evidence of multiple intracranial lesions, it was suspected that the lesions were secondary to her disseminated disease. Due to the sudden loss of vision, the patient underwent a right frontotemporal craniotomy with subtotal sellar/suprasellar tumor resection to decompress the optic nerves. The histopathological examination of the lesion was compatible with an immunoglobulin A (IgA) plasma cell neoplasia, CD19 positive, and negative for kappa or lambda light chain. She died three months later from her disseminated disease without receiving additional chemotherapy or radiotherapy.",
"gender": "Female"
}
] |
PMC10858770
|
[
{
"age": 0,
"case_id": "PMC11060783_01",
"case_text": "A two-month-old neonate underwent a planned direct laryngoscopy, rigid bronchoscopy, and mandibular osteotomy with distraction. The patient's mother had an uneventful pregnancy and delivery. Preoperatively, the patient did not show signs of respiratory distress but was found to have significant airway obstruction due to micrognathia and glossoptosis while lying flat. Airway examination revealed severe micrognathia and glossoptosis, making it difficult to see the back of the mouth. The patient was given a peripheral intravenous access in the left forearm and was taken to the operating room while awake.\nDuring transport, the patient's heart rate was 170 bpm, blood pressure was 90/50 mmHg, and oxygen saturation was 94% on 12 L of 64% oxygen via mask. To prevent airway obstruction, the patient was positioned on their side. Intravenous atropine 0.05 mg was given to reduce the parasympathetic response and dry secretions. Topical lidocaine 2% jelly was applied to numb the mouth, and nasal decongestant oxymetazoline 0.05% was applied to the nostrils to help with nasotracheal tube placement.\nWith the tongue pulled forward, an LMA was placed while the patient was still on their side. Once the LMA was in the correct position, the patient was placed on their back. Sevoflurane was used for inhalation induction via the LMA. After achieving adequate anesthesia, a rigid bronchoscopy was performed, but an endotracheal tube could not be passed orally afterward. The LMA was replaced, and a fiberoptic scope with a 3.0 mm cuffed endotracheal tube was inserted through the left nostril, and the vocal cords were visualized after retracting the LMA. The endotracheal tube was then passed through the vocal cords under fiberoptic guidance. The LMA was removed, and ventilation continued through the endotracheal tube. Tube placement was confirmed, and fentanyl was administered. The patient continued to breathe spontaneously while on the ventilator with sevoflurane for maintenance. Dexamethasone was given to prevent post-operative airway swelling. The mandibular osteotomy and distraction were completed successfully, and the patient was transferred to the neonatal intensive care unit with the nasotracheal tube in place. The patient was successfully extubated on post-operative day five without complications.\nA second surgical procedure performed 30 days later showed significant improvement in the patient's micrognathia, and a Grade 1 view was achieved using a GlideScope during subsequent endotracheal intubation.",
"gender": "Unknown"
}
] |
PMC11060783
|
[
{
"age": 12,
"case_id": "PMC11365024_01",
"case_text": "A 12-year-old girl with no history of any autoimmune diseases and in good health became sick on the 15th of October 2022 with mild symptoms of a flu-like disease: tiredness, fever, cough, and sore throat. Oropharyngeal swab for SARS-CoV-2 tested positive on the 17th October. The patient was isolated at home and did not need hospitalization. Fifteen days later her fever, cough, and sore throat had disappeared. Six months later (March, 2023), she fell ill with type 1 diabetes, and after another 3 months (June, 2023), she was diagnosed with plaque morphea, which was treated with low-dose UVA phototherapy 6 sessions (3x/week). The last 6 months of follow-ups patients is in remission.\nMedical history: grandmother's sister suffers from type II diabetes. The course of type I diabetes has a sufficient level of compensation. During the 3 years of the T1D course only 1 episode of ketoacidosis was diagnosed. Has a tendency to hypoglycemia in the evening time.\nObjectively: areas of plaque morphea on the abdomen, knee, neck, and arm. The most prevalent kind of localized scleroderma is called plaque-morphea. Multiple indurated plaques, usually symmetrically distributed throughout the trunk, legs, and lumbosacral region, are the hallmark of generalized form of morphea. It is identified as an existence of 4 or more lesions that impact 2 or more anatomic sites, have a diameter of >3 cm. The latter complete the patient's clinical case as stated (Figure 1).\nThe following parameters indicate clinical damage: atrophy of the dermis, atrophy of the subcutaneous tissue, hyperpigmentation of the lesion, lesion center with increased skin thickness.\nThyroid gland ultrasound (November, 2023): heterogeneity of the structure - there are single macrofollicles of 1.5 mm in both lobes.\nECG (November, 2023): Middle right atrial irregular rhythm. Heart rate = 50-59 bpm, R-R interval = 1.21-1.01 second. Normal position of the heart axis: 54 .\nUrinalysis (November, 2023): 10 to 12 erythrocytes in hpf.\nSerum Biochemical profile (November, 2023): blood protein:64.1 g/L, blood urea:5.6 mmol/L, serum creatinine:70.8 mmol/L, serum cholesterol:4.2 mmol/L, ALAT:11.0 IU, ASAT:14.0 IU, HbA1:8.0%.\nAnti-Sd70 IgG - 7 AI (June, 2023), 0.85 AI (November, 2023)\nThe patient is in treatment with bolus-basal insulin injection. According to the latest dermatological consultation, the evolution of skin manifestations was stationary.",
"gender": "Female"
}
] |
PMC11365024
|
[
{
"age": 11,
"case_id": "PMC10586919_01",
"case_text": "An 11-year-old male patient with uncontrolled severe persistent asthma and allergic rhinitis underwent an upper gastrointestinal endoscopy and flexible bronchoscopy. A diagnosis of asthma was given six years prior following repeated episodes of cough, chest tightness, shortness of breath, and wheezing triggered by viral respiratory infections and exercise. Sneezing and coughing following exposure to environmental allergens was also noted. At this time, patient was already on Step 5 inhaled corticosteroid-long acting beta agonist (ICS-LABA) therapy montelukast, and as needed short acting beta agonist for rescue treatment. Response to initial asthma treatment over the duration of care was limited, indicating a need for further management. In addition, since the initial asthma diagnosis, this patient was diagnosed with essential hypertension and hyperlipidemia in the context of obesity (patient's weight is >97th percentile). Amlodipine was prescribed; however, the patient was noncompliant.\nConcurrently, this patient was also being followed by gastroenterology for functional constipation, where initial efforts to treat with polyethylene glycol were unsuccessful. The patient reported abdominal discomfort and ultimately discontinued its use without resolution of constipation. Coordination between gastroenterology and pulmonology teams concluded that a bronchoscopy and an upper endoscopy were required for further evaluation to rule out other factors in the pathogenesis of respiratory symptoms.\nBronchoscopy revealed that the airway mucosa had evidence of inflammation and friability, consistent with uncontrolled severe persistent asthma. Bronchoalveolar lavage (BAL) was performed in the lingula and right middle lobe, and upon gross observation, the BAL specimen was clear; however, microscopy revealed the presence of hemosiderin-laden macrophages, indicating bleeding into the airway (483WBC/mcL BAL fluid, 740RBC/mcL BAL fluid). Upper endoscopy revealed esophageal mucosal changes in the mid and distal esophagus, including linear erosions without hemorrhage, often seen with esophagitis. Four biopsies were obtained from the middle esophagus and distal esophagus. Microscopic analysis revealed 35 eosinophils per HPF in both areas with microabcesses and degranulation, confirming the histopathologic criterion for a diagnosis of eosinophilic esophagitis.",
"gender": "Male"
}
] |
PMC10586919
|
[
{
"age": 0,
"case_id": "PMC11045289_01",
"case_text": "A 1-month-old female was brought to our institution due to worsening perianal and gluteal ulcers of one-week evolution. She was born at 39 3/7 WGA via SVD without complications to a 31 y/o primigravida mother with clinically appropriate prenatal care and negative infectious serology. She had no postnatal complications. Her mother noticed diffuse bluish discoloration with a telangiectatic pattern on bilateral lower extremities and feet, extending to the lumbar area (Figures 1(a) and 1(b)). These findings were considered benign without a plan for further follow-up, and the patient was discharged home two days later.\nThe infant was initially doing well, but the mother noticed that the patient was less active with decreased oral intake and loose stools two days after discharge, initially attributed to feed intolerance. Given the patient's persistent hypoactivity and poor feeding, she was admitted at 16 days of age to an outside hospital with presumed neonatal sepsis. However, the patient did not meet the full criteria of SIRS (Systemic Inflammatory Response Syndrome) at admission. She was treated with empiric intravenous antibiotics for one week. Nevertheless, microbiological cultures were ultimately negative. While hospitalized, she developed a right ankle ulcer at the venipuncture site and intergluteal erythema that progressed acutely into blisters and then to nonexudative ulcers within four days after admission. The ulcers were managed with topical wound care.\nAfter completion of antibiotics, she was discharged home. The lesions showed minimal improvement after hospitalization and continued to progress, prompting further presentation to our emergency department. Upon initial evaluation, she was to be found pale, malnourished, and acutely ill. Physical examination was remarkable for mottled and reticulated lower extremities that extended to the lumbar area with confluent ulcers (Figures 2(a) and 2(b)) and a lateral right well-demarcated ankle ulcer (Figure 3). Further evaluation revealed a weak, uncoordinated sucking reflex and a bilateral positive Ortolani test with faint femoral pulses. Laboratory studies were notable for anemia (Hgb 5.8 g/dL). The coagulation studies were within normal limits.\nIntravenous piperacillin-tazobactam and clindamycin were started to cover superimposed infections such as Staphylococcus aureus and Pseudomonas. She received one unit of pRBCs due to severe symptomatic anemia. A bilateral hip ultrasound confirmed dislocations with limited acetabular development. Due to faint femoral pulses, the cardiology service was consulted to assess for cardiovascular abnormalities. The transthoracic echocardiogram (TTE) revealed mild left heart dilatation, a patent foramen ovale (PFO), and a bovine aortic arch with a discrete juxta ductal coarctation of the aorta without patent ductus arteriosus (PDA). The mean gradient across the coarctation was 14 mmHg, which did not meet >20 mmHg, the intervention criteria. Appropriate abdominal aorta pulsatility without diastolic continuation of flow right below the diaphragm suggested good forward flow. The lack of proper lower extremity pulses remained enigmatic. Considering the constellation of findings, the patient was admitted and managed by an interdisciplinary team, including pediatric, dermatology, cardiology, hematology, and radiology specialists.\nA punch biopsy of the gluteal ulcers revealed non-inflammatory spongiotic dermatitis with telangiectatic vascular channels in the superficial dermis positive for GLUT-1, CD-31, and CD-34 markers, which are specific for IH. The physical findings and the pathological report were consistent with an extensive IH with minimal growth (IH-MG) that ulcerated. An abdominopelvic MRI was performed to assess common extracutaneous IH locations and was remarkable for an ill-defined posterior perirectal region that was correlated with a gluteal hemangioma and enhancing lesions at the retroperitoneum, left adrenal, and left paraspinal area that were compatible with additional IHs (Figures 4(a)-4(c)). The liver had a normal size and morphology. No suspicious hepatic lesions were observed. This MRI also revealed nearly diffuse thickening and hyperenhancement of the bowel wall, suggesting infiltrating intestinal hemangiomatosis (Figure 5). The CTA demonstrated a discrepancy between the distal abdominal aorta and iliac vessels of the proximal (6 mm) and distal aorta (3 mm), identifying a vascular anomaly. After extensive workup, the team suspected LUMBAR syndrome and TTE suggested an overlap with features of the upper counterpart, PHACE syndrome. We performed a spinal ultrasound, which revealed no evidence of dysraphism. A brain MRI/MRA was performed to evaluate possible anomalies related to PHACE syndrome, with unremarkable findings. The oncology team was consulted concerning the hyperintense left adrenal mass, suggesting neuroblastoma. However, urine catecholamine levels were found to be within the normal range. Thyroid stimulating hormone and thyroxine hormone tests were not performed.\nFor proper management of IH, the patient began with intravenous Propranolol 1 mg/kg/day every 12 hours and slowly titrated to a maximum dose of 2 mg/kg/day every 12 hours for three months. After three months of Propranolol and wound care, the ulcers healed appropriately. Since the patient's ulcers dramatically improved, the parents expressed their interest in continuing care in their home state, as they were not native to Puerto Rico. A follow-up abdominopelvic MRI was performed to evaluate the progression of internal IHs. Imaging revealed an interval improvement of the hyperintense lesions previously mentioned. Given the patient's adequate oral intake tolerance and appropriate weight gain, she was discharged to continue oral Propranolol, with emphasis on the importance of follow up and continuation of care in her home state.",
"gender": "Female"
}
] |
PMC11045289
|
[
{
"age": 76,
"case_id": "PMC10876828_01",
"case_text": "A 76-year-old man with 50 years of smoking history presented with a hoarseness and pharyngeal foreign body sensation for 1 year. The positron emission tomography (PET) scan on 4 November 2020 showed a hypermetabolic nodule in the left upper lobe with obstructive inflammation, which was considered as pulmonary malignancy first; small lymph nodes in the left upper hilum and mediastinal region 5 suggested the possibility of metastasis ( Figure 1 ). Magnetic resonance imaging (MRI) of the brain showed no metastasis. Figure 2 displays his treatment history and the chest computed tomography (CT) images.\nOn 10 November 2020, the patient received thoracoscopic radical resection of lung cancer. The pathology after surgery proved that the lesion was a 1 cm * 0.7 cm peripheral invasive adenocarcinoma, without lymph node metastasis and distant metastasis, classified as lung adenocarcinoma (cT1aN0M0, stage IA). Next-generation sequencing (NGS) was performed and the mutations of EGFR p. S768i and EGFR L858R were detected. The patient had a tumor recurrence in August 2021 according to the reviewed chest CT with increased pleural effusion, and there were many nodules on the chest wall that were considered multiple pleural metastases. Then, he had been treated with Osimertinib (80 mg once daily) as first-line targeted therapy since August 2021. After 4 months of targeted therapy, chest CT suggested further deterioration. The treatment regimen had changed several times during December 2021 to March 2022; however, the symptoms had worsened, and his chest pain was so severe that he was confined to bed for extended periods of time, with a PS score of 3.\nA CT-guided lung biopsy was performed on 6 May 2022, and NGS analysis of the rebiopsy revealed EGFR L858R and p.S768I mutations. Moreover, fluorescence in situ hybridization (FISH) was performed and detected c-MET amplification [cells with MET gene copy number (GCN) >5 accounted for 56%], with a ratio value of 1.18. T+S therapy combined with Savolitinib (300 mg once daily) and Furmonertinib (80 mg once daily) was administrated to the patient on May 19, which had a remarkable effect. After only 3 days of treatment, the chest pain symptom was significantly improved and the PS score was 2. PS score returned to 0 rapidly after 1 month of T+S therapy. A chest CT scan 1 month later demonstrated evident shrinking (PR), and 3 months later, it revealed confirmed PR. CT imaging indicated progress (PD) until 5 months after T+S therapy, and finally, the patient died on 17 February 2023.",
"gender": "Male"
},
{
"age": 70,
"case_id": "PMC10876828_02",
"case_text": "A 70-year-old female never-smoker was admitted to our hospital on 2 April 2022 due to slow reaction and memory decline for 2 months. The brain MRI showed a high possibility of metastasis in the left parietal-occipital lobe, while the chest CT revealed a tumor in the left lung with mediastinal lymph node metastasis. The PET/CT scan is shown in Figure 3 .\nTherefore, the resection of deep supratentorial tumors was performed by a neurosurgeon without any severe complications. The postoperative pathology indicated brain metastatic poorly differentiated adenocarcinoma. Examination of NGS identified EGFR mutations by testing tumor tissue. Based on the findings above, the patient was diagnosed with lung adenocarcinoma (cT1bN2M1b, stage IV). The patient has been treated with Osimertinib (80 mg once daily) as first-line targeted therapy since 6 May 2022. In August 2022, after 3 months of Osimertinib treatment, the chest CT showed that the lung malignant tumor with mediastinal lymph node metastasis was more advanced than before, and the brain MRI revealed a new intracranial lesion, which means Osimertinib had a poor response.\nBecause of the further enlargement of the intracranial lesion, another craniotomy operation for the tumor was performed on 22 October 2022. The postoperative pathological finding was also consistent with lung adenocarcinoma metastasis as last time, but this time, we added immunohistochemistry (IHC) for c-MET, and the detection result was c-MET protein overexpression (c-MET 3+). Subsequently, the patient was changed to T+S therapy combined with Savolitinib (300 mg once daily) and Osimertinib (80 mg once daily) in November 2022. The effect of this treatment regimen was remarkable, as the chest CT after 2 weeks showed a reduction in the left lung lesion. The patient remained stable with a progression-free survival (PFS) of 5 months until PD on 2 April 2023. Chest CT imaging and the brain MRI of the patient at various time points before and after treatment are shown in Figures 4 , 5 .",
"gender": "Female"
}
] |
PMC10876828
|
[
{
"age": 63,
"case_id": "PMC11131148_01",
"case_text": "A male patient, aged 63 years, presented following a 1-hour episode of central chest pain. He had a history of hypertension and type 2 diabetes. He was a current smoker and was taking a statin, a beta-blocker and an oral antihyperglycaemic. He had stage 3 chronic kidney disease (CKD) with estimated glomerular filtration rate (eGFR) of 55 ml/min/1.73 m2 at admission. Haemoglobin was normal at 146 g/l with normal mean corpuscular volume (MCV). ECG showed an absence of ST segment elevation. High-sensitivity troponin was initially mildly elevated and 1 hour later was above the threshold for rule-in of non-ST-elevation MI (NSTEMI). Coronary angiography was scheduled for the following day, subject to cath lab availability. This was performed 28 hours after presentation and showed diffuse mild disease of the dominant right coronary artery (RCA) with a 50% stenosis at the origin of the posterior descending artery (PDA), mild left main stem disease and a severe bifurcation stenosis (1,1,1) of the proximal left anterior descending (LAD) artery and first diagonal branch. He underwent percutaneous coronary intervention (PCI) with upfront two- stent strategy using the mini-crush technique of both the diagonal artery (2.5 mm x 15 mm everolimus-eluting stent [EES] with 2.75 mm x 10 mm non- compliant [NC] balloon) and the LAD artery (3.0 mm x 20 mm EES to mid- LAD and overlapping 3.5 mm x 24 mm EES postdilated with 3.5 mmx 12 mm NC balloon). Imaging confirmed achievement of good stent deployment.",
"gender": "Male"
},
{
"age": 68,
"case_id": "PMC11131148_02",
"case_text": "A male patient, aged 68 years, presented following a 1-week history of new-onset exertional angina culminating in a 30-minute episode of central chest pain at rest. He had a history of hypertension, hyperlipidaemia and minor ischaemic stroke 3 years earlier with no significant residual disability. He was a non-smoker and was taking ramipril, amlodipine, clopidogrel and a moderate-intensity statin regimen. He had stage 3 CKD with eGFR of 50 ml/min/1.73 m2 at admission. Haemoglobin was below the lower limit of normal for men at 124 g/l with normal MCV. ECG showed T wave inversion in the inferior leads and an absence of ST segment elevation. His high-sensitivity troponin at admission was above the threshold for rule-in of NSTEMI. Coronary angiography was scheduled for the following day. This was performed 20 hours after presentation and showed normal left main stem, mild stenoses in the proximal and the mid LAD artery, normal non- dominant circumflex artery, and severe disease with areas of moderate calcification in the proximal to mid RCA with mild disease in the PDA. He underwent PCI with 3.5 mmx 32 mm EES to the mid RCA and abutting 4.0 mm x 28 mm EES to the proximal RCA, postdilated with 4.0 mm x 15 mm NC balloon with excellent angiographic results.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC11131148_03",
"case_text": "The management of this patient was consistent with the following ESC 2023 ACS guidelines recommendations:\nAspirin is recommended for all patients without contraindications at an initial oral LD of 150-300 mg (or 75-250 mg IV) and an MD of 75-100 mg once daily for long-term treatment. Class 1, level of evidence a.\nTicagrelor is recommended irrespective of the treatment strategy (invasive or conservative) (180 mg LD, 90 mg twice-daily MD). Class 1, level of evidence b.\nDrug-eluting stents are recommended in preference to bare metal stents in all cases. Class 1, level of evidence a.\nHowever, the management was not consistent with the ESC 2023 ACS guidelines in terms of treatment with an oral P2Y12 inhibitor prior to coronary angiography given that this was performed less than 24 hours after the diagnosis of NSTEMI was made. Furthermore, the guidelines recommend parenteral anticoagulation with UFH or, preferably, enoxaparin rather than fondaparinux under these circumstances. However, it was not certain at the time of diagnosis whether coronary angiography would be performed within or more than 24 hours after diagnosis. The patient had HBR and the ESC 2023 ACS guidelines do not provide any recommendation for oral P2Y12 inhibitor treatment before coronary angiography in NSTE-ACS patients with HBR, therefore withholding oral P2Y12 inhibitor treatment for longer than 24 hours should be considered an option in these patients.\nThe ESC 2023 ACS guidelines provide a default recommendation for 12 months of DAPT in NSTE-ACS patients who do not have HBR but provide support for a range of alternative strategies for shortening the duration of DAPT in those with or without HBR, as follows (Figure 1):\nIn patients who are event-free after 3-6 months of DAPT and who are not high ischaemic risk, SAPT (preferably with a P2Y12 receptor inhibitor) should be considered. Class 2a, level of evidence a.\nDe-escalation of P2Y12 receptor inhibitor treatment (e.g. with a switch from prasugrel/ticagrelor to clopidogrel) may be considered as an alternative DAPT strategy to reduce bleeding risk. Class 2b, level of evidence a.\nIn HBR patients, aspirin or P2Y12 receptor inhibitor monotherapy after 1 month of DAPT may be considered. Class 2b, level of evidence a.\nConsequently, for this patient with HBR, either early switching from ticagrelor to clopidogrel may have been considered or cessation of aspirin may have been considered at 1 month rather than 3 months. The guidelines also suggest that cessation of ticagrelor at 1 month may have been considered.\nThe European consensus document on antithrombotics makes recommendations for ACS patients undergoing PCI according to HBR status. For those without HBR, the default antiplatelet strategy is aspirin and ticagrelor 90 mg twice-daily for 1-3 months, followed by ticagrelor monotherapy for up to 12 months post-ACS and then monotherapy with ticagrelor, clopidogrel or aspirin thereafter unless either (1) there is concomitant polyvascular disease, in which case aspirin plus rivaroxaban 2.5 mg twice-daily is the recommended default strategy, or (2) there is high ischaemic risk and very low bleeding risk, in which case aspirin plus ticagrelor 60 mg twice-daily is suggested although this may be a small proportion of ACS patients. However, in those with HBR, such as in this case, the default strategy is DAPT for only 1 month, consisting of aspirin and either ticagrelor or clopidogrel, followed by SAPT thereafter with ticagrelor, clopidogrel or aspirin. Consequently, the consensus document proposes earlier cessation of DAPT (1 month) than was used in this case of HBR at 3 months post-PCI.",
"gender": "Unknown"
},
{
"age": 72,
"case_id": "PMC11131148_04",
"case_text": "A female patient aged 72 years, with a history of stable angina, hypertension, diabetes, permanent AF and borderline stage 3 CKD was admitted with an episode of severe chest pain lasting 10 minutes. ECG showed AF with satisfactory ventricular rate control and no evidence of ischaemia. High-sensitivity troponin T remained within the normal range. Creatinine was mildly elevated, with eGFR 58 ml/min/1.73 m2 indicating stage 3 CKD, and her haemoglobin was normal. Her CHA2DS2-VASc score was 5. The patient was currently treated with apixaban 5 mg twice daily for thromboprophylaxis in view of the AF and additionally was receiving bisoprolol, amlodipine, atorvastatin and metformin. A diagnosis of unstable angina was made, and she was treated with an LD of clopidogrel as SAPT in addition to apixaban prior to undergoing invasive coronary angiography. This was performed 24 hours after admission via the right radial artery and showed normal left main stem, mild proximal LAD artery disease with moderate diffuse disease of a 2-mm-diameter first diagonal branch, severe stenosis in the mid vessel of the circumflex artery and minor disease of the dominant RCA.\nUFH was given as a bolus of a lower-than-standard dose of 60 U/kg because a dose of apixaban had been given 6 hours previously. The circumflex stenosis was predilated with a 3.0 mm x 15 mm balloon followed by implantation of a 3.5 mm x 22 mm EES that was postdilated with a 4.0 mm x 15 mm NC balloon with excellent angiographic results. Rather than giving any aspirin, clopidogrel was switched to ticagrelor 180 mg LD followed by 90 mg twice-daily in combination with apixaban 5 mg twice-daily with a plan to switch back to clopidogrel after 1 month for a further 5 months, followed by apixaban monotherapy in the long term.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC11131148_05",
"case_text": "The management of this patient was consistent with the following guideline recommendations:\nDuring PCI, a UFH bolus is recommended in any of the following circumstances: if the patient is on a non-vitamin K antagonist oral anticoagulant (NOAC); if the international normalised ratio is <2.5 in vitamin K antagonist (VKA)-treated patients. Class 1, level of evidence c.\nIn patients requiring OACs, withdrawing antiplatelet therapy at 6 months while continuing OACs may be considered. Class 2b, level of evidence b.\nThe use of ticagrelor or prasugrel as part of triple antithrombotic therapy is not recommended. Class 3, level of evidence c.\nThe UFH dosing strategy was supported by the additional advice in the guidelines to perform PCI without interruption of OAC and, 'in patients on NOACs, regardless of the timing of the last administration of NOACs, add low-dose parenteral anticoagulation (e.g. enoxaparin 0.5 mg/kg IV or UFH 60 IU/kg)'. Regarding the decision on duration of DAPT, requirement for long-term oral anticoagulation is a major ARC HBR criterion and the patient also had a minor HBR criterion in view of stage 3 CKD. Despite concomitant diabetes, the extent of CAD was not felt to support dual antithrombotic therapy beyond 6 months in view of the technical success of the PCI procedure and limited disease in the unstented major epicardial arteries.\nThe management was partially consistent with the following recommendation given the high CHA2DS2-VASc score, although no triple antithrombotic therapy was used and clopidogrel was switched to ticagrelor, which is not the preferred strategy:\nAs the default strategy for patients with AF and CHA2DS2-VASc score >=1 in men and >=2 in women, after up to 1 week of triple antithrombotic therapy following the ACS event, dual antithrombotic therapy using a NOAC at the recommended dose for stroke prevention and a single oral antiplatelet agent (preferably clopidogrel) for up to 12 months is recommended.\nThe 2023 guidelines no longer provide any recommendation about the use of dual antithrombotic therapy with ticagrelor or prasugrel due to limited evidence.\nGiven that angiography was performed 24 hours after admission, the management of the patient was borderline inconsistent with the following recommendation:\nThis document did not provide a consensus on antithrombotic management of patients with a baseline indication for OACs, such as AF.",
"gender": "Unknown"
},
{
"age": 76,
"case_id": "PMC11131148_06",
"case_text": "A female patient, aged 76 years, was admitted for elective diagnostic angiography and possible PCI due to stable angina pectoris on mild exertion despite two anti-anginal drugs, bisoprolol and amlodipine. She had a prior history of hypertension and a 22-pack-year history of smoking, which she had stopped 15 years earlier. She had stage 3 CKD with eGFR of 42 ml/min/1.73 m2 and her haemoglobin was 108 g/l, which had remained stable during treatment with aspirin. Her other cardiovascular medication consisted of atorvastatin, ramipril and indapamide. Echocardiography prior to admission had demonstrated mild left ventricular systolic dysfunction with moderate apical hypokinesia.\nCoronary angiography demonstrated mild left main stem disease, severe stenosis in the mid LAD artery involving a moderate-sized second diagonal branch, a 50% stenosis in the proximal circumflex which was a small non- dominant vessel, and mild diffuse disease in the RCA. The diagonal artery was treated initially with 2.25 mm x 12 mm balloon dilatation and the mid- LAD stenosis was treated with a 2.75 mm x 18 mm EES, achieving a good angiographic result to the LAD but compromise to the origin of the diagonal artery, which was then treated with a 2.5 mm x 12 mm EES using the T and small protrusion (TAP) technique.",
"gender": "Female"
}
] |
PMC11131148
|
[
{
"age": 78,
"case_id": "PMC10924037_01",
"case_text": "A 78-year-old man presented with tongue discomfort and dyspnea in a supine position that had begun a few hours earlier. He had no personal or family history of tongue swelling, a history of any trigger, such as mechanical oral irritation, or a suspected food allergy. He took a combination of candesartan and amlodipine for 3 years.\nThe patient exhibited mild tachypnea upon examination but no hypoxemia, stridor, or wheezing; he couldn't speak or swallow. Notching was presented on the bilateral margins of the tongue (Figure 1A). Laboratory tests showed normal complement component levels and eosinophils. The dyspnea improved within 2 h after the visit, and the tongue swelling improved the next day (Figure 1B). Based on these findings, we suspected that candesartan was the cause of his symptoms and discontinued it. He hasn't had a recurrence of symptoms in 5 months.\nTongue size and condition vary widely among individuals. The swelling of the tongue is difficult to determine by its apparent size. The scalloping on the lateral margins of the tongue is caused by the pressure from the teeth due to tongue swelling. The scalloped tongue is a characteristic finding of tongue swelling and is useful in its diagnosis.",
"gender": "Male"
}
] |
PMC10924037
|
[
{
"age": 66,
"case_id": "PMC10708900_01",
"case_text": "A 66-year-old presented with nausea, vomiting, and decreased colostomy output on a background of recurrent appendiceal PMP with progressive disease and multiple abdominal and pulmonary lesions. In terms of his prior treatment, he had had two prior cytoreductive surgeries and hyperthermic intraperitoneal chemotherapy procedures in 2016 and 2017 with a peritoneal cancer index (PCI) score of 39 evident in both and the second procedure complicated by intraperitoneal sepsis and abdominal-wall mesh infection. He also underwent treatment with two doses of BromAc in 2019 when he was considered unsuitable for further surgical management. At this time, the drain was dislodged following two injections of BromAc; however, there was a small response when measured by volume of tumour aspirated (total of 15 mL), and a small reduction in tumour size was visible on computed tomography scan. Throughout the next 2 years, the patient was asymptomatic.\nA computed tomography scan was performed, demonstrating evidence of a high-grade bowel obstruction and multiple collections in the pelvis. A drain was inserted into the largest collection (14-Fr pigtail drain) under radiological guidance. A total of 5 doses of BromAc was administered over 5 days, with the volume administered differing each time as shown in Table 1. The patient was premedicated with an oral antihistamine (loratidine 10 mg) and paracetamol 1 g 1 h prior to BromAc administration. Bromelain 90 mg and acetylcysteine 2 g were reconstituted and administered in 5% dextrose through a sterile Millex 0.22-mum syringe filter to remove debris. The drug was allowed to dwell for 24 h before being drained, and repeat treatment considered. The volume injected, as tolerated, was aimed at 20% of the target tumour volume. Approximately 50-150 mL of clear/white gelatinous material with some blood staining was aspirated per treatment. The volumes of mucinous material aspirated are also listed in Table 1.\nHe experienced 1 episode of fever to 38.9 C on day 2 of treatment. At this time, blood tests revealed an elevated white count of 19.7 x 109/L, an elevated CRP of 266 mg/L, and decreased albumin at 28 g/L. He was commenced on empirical antibiotics. A septic screen was negative, and the fever resolved with paracetamol following a few hours.\nA significant reduction in tumour size was visualized on progress imaging (Fig. 1). His obstructive symptoms also resolved during treatment with BromAc. He was nil by mouth with supportive intravenous fluids for a total of 3 days, following which his diet was gradually upgraded and intravenous fluids weaned. He was tolerating a full diet with improved stoma output 2 days following drain insertion.\nIn total, he was admitted for 13 days. He was discharged 2 days following the final administration of BromAc and was then followed up in clinic 1 month post-discharge. His bowel obstruction did not recur; however, he did experience progression of his pelvic collections and underwent two further BromAc treatments 1 year following this episode. These treatments are not described in detail in this report; however, they were both similarly uncomplicated and effective in reducing tumour volume.",
"gender": "Male"
}
] |
PMC10708900
|
[
{
"age": 77,
"case_id": "PMC11380831_01",
"case_text": "A 77-year-old male with a medical history of CLL diagnosed 7 years prior presented with acute onset of severe low back pain radiating bilaterally to the legs associated with urinary retention and overflow incontinence. Medical history was also significant for stroke 3 years earlier with full recovery, hypothyroidism, and chronic low back pain managed conservatively.\nHis CLL history was notable for recurrent sinopulmonary infections attributed to treatment-related hypogammaglobulinemia necessitating rotating antibiotic prophylaxis. He had undergone chemoimmunotherapy with bendamustine, rituximab, and ibrutinib 2 years prior and was currently on maintenance acalabrutinib.\nThree days before the presentation, he suffered a mechanical fall, which exacerbated his chronic back pain and precipitated the new neurological symptoms. On arrival, he exhibited 3/5 strength in the left lower extremity and 4/5 strength on the right with a T12 sensory level. He was unable to ambulate. Magnetic resonance imaging (MRI) of the thoracic spine [Figure 1] revealed a hemorrhagic intradural extramedullary lesion at T12-L1 measuring 2.1 x 1.3 x 1.8 cm, resulting in severe spinal cord compression and edema.\nGiven his known history of CLL, the spinal lesion was presumed to represent leukemic infiltration. Hematology was consulted, and acalabrutinib was promptly held, given its propensity to exacerbate bleeding. After extensive discussion of risks and benefits, the decision was made to urgently pursue laminectomy for tissue diagnosis and decompression of the spinal cord.\nThe patient underwent bilateral T12 and L1 laminectomies. Opening of the dura revealed diffuse hemorrhage and a vascular mass within the subarachnoid space tracking from the filum terminale. Frozen section analysis of the specimen revealed two distinct neoplasms. Final pathology [Figures 2-4] confirmed the diagnosis of a collision tumor comprised of CLL infiltrating myxopapillary ependymoma World Health Organization (WHO) grade 2.\nPostoperatively, lower extremity strength improved to antigravity function bilaterally. Given the known chemosensitivity profile of each component, he was restarted on acalabrutinib and began temozolomide. Surveillance MRIs [Figure 5] have shown no evidence of recurrence.",
"gender": "Male"
}
] |
PMC11380831
|
[
{
"age": 10,
"case_id": "PMC11041533_01",
"case_text": "A 10-year-old, 3.92 kg, male neutered, domestic shorthair cat was referred for evaluation of a left pelvic limb lameness. There was a history of comminuted phalangeal fractures and talocrural luxation of the right pelvic limb when the cat was aged 5 months. Amputation was performed at that time, at the level of the proximal third of the femur, with preservation of the right coxofemoral joint.\nOn presentation at our institution, the cat was in good general health, with a body condition score of (5/9). Its overall mobility was severely restricted, with the cat walking for only two or three steps before sitting down. Marked pain and a reduced range of motion was elicited on manipulation, particularly extension, of the left coxofemoral joint. There was also resentment of any palpation and manipulation of the right coxofemoral joint. There was moderate swelling affecting the caudomedial aspect of the right elbow. No other significant abnormalities were detected. The cat was sedated with dexmetomidine hydrochloride (Dexdomitor; Vetoquinol; 5 mug/kg IV and butorphanol (Dolorex; MSD Animal Health; 0.3 mg/kg IV) and radiographic evaluation was performed (Figure 1). The radiographs showed marked left and right coxofemoral osteoarthritis with periarticular osteophytosis. Elbow radiographs showed moderate new bone formation medial to the right elbow, suggestive of flexor tendon enthesopathy, and periarticular bony changes affecting both elbows consistent with osteoarthritic change. Based on these clinical and radiographic findings, and after discussion with the owners, a decision was made to perform a left total hip replacement. The cat was discharged home and returned 7 weeks later for surgery.\nOn re-presentation, the cat was premedicated with dexmetomidine hydrochloride (5 mug/kg IV) and methadone (Methadyne; Jurox; 0.2 mg/kg IV) and anaesthesia was induced with propofol (PropoFlo; Zoetis, 1 mg/kg IV). Anaesthesia was maintained with 2% isofluranef (Isoflurane; Piramal Critical Care) in oxygen. Cefuroxime (Zinacef; Glaxo Smith Kline) 20 mg/kg was administered 30 mins before skin incision and repeated thereafter every 90 mins. Epidural analgesia was provided with bupivacaine (Marcain Polyamp Steripack; Aspen Pharma; 1 mg/kg). A standard craniolateral approach was performed to the left hip as previously described. The THR was performed routinely and a 12 mm cemented fixation (CFX) acetabular cup was placed. The intention was to insert the cup in a more closed position than normal to reduce the chance of luxation due to the contralateral hindlimb amputation and therefore an expected higher hip joint load. During the reaming of the femoral canal, a very small fissure was noted on the proximal medial aspect of the femur. To avoid propagation of the fissure, three cerclage wires using 1 mm diameter (20 G) orthopaedic wire were applied to the proximal femur. A 3 mm CFX stem was applied after the femoral canal was filled with low-viscosity polymethylmethacrylate (PMMA) bone cement. A +2 femoral head was selected to minimise laxity at the head-cup interface. Wound closure was routinely performed. Radiographs of the coxofemoral joint were obtained postoperatively (Figure 2). The cat was hospitalised for the next 48 h, and analgesia was provided with methadone 0.2 mg/kg q4h. Cefuroxime (20 mg/kg) was continued intravenously every 8 h for the next 24 h postoperatively. Robenacoxib (Onsior; Elanco) was administered subcutaneously during the hospitalisation period at 1 mg/kg q24h for 3 days, and then it was continued orally at home. Cephalexin (Rilexine; Virbac; 20 mg/kg) was administered orally for 5 days postoperatively. Follow-up radiographs 6 weeks after surgery were performed at the referring veterinary clinic (Figure 3); these showed stable implants and progression of bony healing. No complications were recorded in the postoperative period (follow-up 30 months). The Feline Musculoskeletal Pain Index was used to keep track of the cat's mobility in the postoperative period; this has shown an increase in the overall index, which is associated with improved mobility (from 45 at 6 weeks to 58 at 15 months postoperatively) (see supplementary material).",
"gender": "Male"
}
] |
PMC11041533
|
[
{
"age": 35,
"case_id": "PMC11022530_01",
"case_text": "Adah is a 35-year-old single woman who was adopted as an infant. She has a high school education and attended some college classes. Adah was recently bereaved by the loss of her beloved adopting mother to cancer. At age 7, she was diagnosed with retinitis pigmentosa, a genetic disorder causing progressive vision impairment, which has hindered her independence. Adah has a history of a dysfunctional, violent, long-term relationship with an abusive man. Since the COVID-19 pandemic, she has experienced further isolation due to social distancing restrictions and developed contamination fears and compulsive cleaning rituals. She is unemployed and financially dependent on social security benefits and her father's support. Adah's father initiated contact, expressing concern about her confabulating fantasies that seemed indistinguishable from reality, causing turmoil among family members.\nAdah is a likable but avoidant woman who oversleeps and overeats. She has a lifelong habit of vivid daydreaming, often involving Disney characters, which provides an escape from her emotional and visual darkness. Despite acknowledging her tendency to \"sugar-coat\" her problems, Adah showed reluctance to explore her inappropriate fantasies or other sources of distress, such as PTSD, visual impairment, and social isolation. After recounting three fabricated memories that caused serious family turmoil, she was referred for psychological diagnosis and therapy.\nIn assessing Adah's condition, I administered the Wide Range Assessment of Memory and Learning (WRAML-2), selected subtests, the Minnesota Multiphasic Personality Inventory (MMPI-2), the 16-item Maladaptive Daydreaming Scale (MDS-16), and the Structured Clinical Interview for Maladaptive Daydreaming (SCIMD). The patient demonstrated below-average performance on the WRAML-2 Word Lists subtest, which measures rote verbal memory through memorization of word lists. She also showed below-average ability to remember phrases spoken to her accurately. Notably, when recalling word lists, Adah would sometimes introduce new words that she repeatedly believed were included on the list despite re-exposure to the actual list. She exhibited considerable difficulty with free recall of longer narratives, initially scoring far below average. However, Adah displayed somewhat better memory for narratives when either the presentation rate was slowed, and she repeated sections before the final recall or when recall cues were provided. Overall, the findings indicated significant challenges with verbal memory, particularly in the recall of more substantial amounts of information.\nAdah's memory improved somewhat when presentation rates were slowed. She was allowed to repeat sections before final recall or when recall cues were provided. This pattern suggests her verbal memory deficits may be related to issues with attention and focus. Adah's experiences of dissociative absorption in fantasy could interfere with her ability to attend to and encode verbal information presented to her fully. This dissociative tendency may contribute to her memory confabulation, where she falsely believed certain words or details were part of the original information.\nAdah completed the MMPI-2 in its entirety, demonstrating adequate effort and comprehension. However, validity scales revealed an unusual profile across multiple subscales. Her responses reflected atypical symptom reporting. While she presented as cooperative with no evidence of intentional minimization or defensiveness, the possibility of overreporting due to emotional needs cannot be excluded. Overall, Adah's clinical scale profile indicated primary elevations related to anxious and persecutory thinking, with additional elevations on scales measuring depression, post-traumatic stress, and obsessive-compulsive symptoms. Subscale analysis also suggested tendencies toward social isolation, alienation, and interpersonal distrust. In summary, she exhibited a range of internalizing symptoms centered around anxiety, social disconnection, and difficulty trusting others.\nAdah exhibits a profile that suggests significant psychological and emotional difficulties, which may be related to her reported fabrication of events and memories. The MMPI-2 indicates the possibility of overreporting symptoms due to emotional needs rather than an accurate representation of her psychological state.\nAdah's clinical scale profile showed a range of significant internalizing issues that are likely causing her substantial distress. The subscale analysis also suggested tendencies toward social isolation, alienation, and interpersonal distrust. These symptoms raise concerns about Adah's ability to form and maintain healthy relationships, which could further exacerbate her loneliness and need for acceptance. Given the MMPI-2 profile, the patient's reported tendency to fabricate events and memories involving successful employment and medical hospitalizations may represent a pathological coping mechanism. The elevated scales suggest Adah may be struggling with significant emotional and psychological challenges that she is attempting to manage through the creation of an alternative narrative.\nThe evidence-based cutoff score for suspected MD on the MDS-16 is 40. Adah scored 68 on the test, indicating a high likelihood of having the condition. Subsequently, I interviewed Adah using the SCIMD, which confirmed that she was positive for MD, severe. Additionally, based on self-reported symptoms during intake, I assessed Adah for depression, PTSD related to physical and sexual assault by her partner, obsessive-compulsive spectrum disorders, ADHD, and perception of reality. Relevant SCID-5 modules were administered. Adah met DSM-5 criteria for persistent depressive disorder related to her visual impairment, unemployment, ostracizing by her siblings, and grief over her mother's passing. She also had PTSD as a result of her persistent partner abuse, generalized anxiety disorder manifested in constant worry about her social status, health, and financial security, and OCD related to fears of contamination. Adah also met the diagnostic criteria for excoriation disorder (skin picking), with visible facial and arm scabs and scars. Furthermore, the SCID-5 indicated a diagnosis of ADHD-Inattentive type. However, schizophrenia spectrum disorders were ruled out based on her SCID-5 findings.\nGiven Adah's significant mental health challenges, it is highly likely that her motivations to create a compensatory imaginary world were rooted in a deep need for value, security, and care that was lacking in her real-life circumstances. Faced with overwhelming distress from her visual impairment, unemployment, strained family relationships, grief, and partner abuse, Adah may have retreated into an imaginary realm to alleviate her psychological suffering. The diagnoses suggest she was struggling to manage intense emotional turmoil and vulnerability, and the imaginary storylines described below may have provided temporary respite and a sense of control.\nThe following three incidents, titled \"The new job,\" \"The miscarriage,\" and \"The ICU,\" are Adah's fabricated memories that were later disproven by her family.\nIn response to persistent encouragement from her father to seek gainable employment, Adah started reporting about meetings online with her career counselor, subsequent job interviews, and eventual hiring for a child-care assistant job. Much to her father's delight, Adah provided detailed descriptions of her experiences as a teacher's aide and shared her enjoyable online interactions with the children. When her father began doubting some of these accounts, he called up the persons allegedly involved, only to find out that none of the events ever happened.\nAdah called her father one morning during the lockdown period of the COVID-19 pandemic to say that she was bleeding and in pain. She added that she had posted earlier to an online women's support group and written about her condition. Members of the community recommended she talk to a gynecologist. She picked one from the phonebook, and a friend drove her there. A vaginal ultrasound showed two amniotic sacs, suggesting she was aborting twins. She told her father, sobbingly, that the doctor had repositioned the IUD, which was wrongly placed, and that the procedure was painful. Adah then shared her ordeal with her housemate, who was more skeptical and unaware of the nightly drama. After checking the security camera footage, her housemate revealed that no one had left the house that night. Bewildered, Adah called the woman she thought had taken her to the hospital for corroboration, only to find out that nothing of the sort had happened.\nOne of Adah's most profound fears was being contaminated by the COVID-19. What she dreaded most appeared to have happened. One night, she called her father in tears to share that she tested positive for COVID-19 and was hospitalized at the ICU because of breathing difficulties and a high fever. Adah's panic and bawling made it difficult for her father to understand her condition's details and exact whereabouts. Because Adah would not hand over the phone to any of the attending staff, her father suspected that his distraught daughter may have again confabulated an anxiety-laden daydream with reality. He called her housemate and asked her to knock on Adah's door. Adah was lying on her bed sobbing and shaking. \"...it felt so real. I could swear it happened,\" she muttered. \"Oh my God, I was sure I was going to die ... I am so humiliated.\"\nAdah expressed deep distress by her confusion of reality with daydreaming. She realized that in her anxiety, she would imagine plausible developments to the point where she was completely immersed in her fantasy, believing it to be true. She stated that she felt disgraced and \"panicky\" when learning these were misremembered or false memories.\nDespite these grave incidents, there was no evidence Adah was suffering from psychotic or substance-related hallucinations or paranormal experiences. Except for migraines resulting in dizziness, there were no neurological symptoms. Adah was not taking psychoactive medication. The impressions of three professionals she consulted with, a psychiatrist, a neuropsychologist, and a clinical psychologist (the author), were that although the patient was not malingering, she presented with apparent features of a factitious disorder. The possibility of malingering was also considered a differential diagnosis because all three confabulations were expected to result in a sympathetic reaction from her father and siblings. However, several features of her clinical presentation convinced the assessing clinicians to rule out the diagnosis of malingering or pseudologia fantastica: the weeping, anxiety, and overall emotional distress she expressed when reporting the miscarriage and the ICU events appeared genuine; she was known in her family as a naive and honest woman with no history of lying; her bewildered reaction to the refuting evidence and her strong motivation to seek help for her lifelong daydreaming gone awry suggested the refuted fantasies were ego-dystonic.\nThe woman I met was anxious and ashamed about misattributing her fantasy to real life. She expressed a desperate need to control these embarrassing memory errors. Given her psychological makeup, I concluded that the most appropriate approach to helping Adah involved three treatment arms applied in a directive and concrete intervention style: (1) supportive reassurance that I believed she was not a \"pathological liar\" as her siblings had accused her; (2) psychoeducation about MD for the entire family and anchoring Adah's MD in the context of visual and social deprivation in conjunction with her multiple sources of mental distress and; (3) an exploration of her errors in memory source attribution and providing her with tips for better differentiation of reality from anxiety-based daydreaming, for example, improving her sense of agency over her daydreaming and her improving her mindfulness about the entry and exit processes from these self-absorptive states, coupled with fact-checking before sharing significant experiences with her family.\nAdah could not tolerate her shameful fictitious memories and her misattribution of anxiety-laden fantasies to reality. Once conscious of her confabulations, they became instantaneously ego-dystonic. Consequently, she fully complied with my suggestions and interventions. Second, Adah could not bear the familial criticism and fraternal ostracizing these false alarms had brought upon her. She acquired the necessary skills to abort the troublesome mistaken alarms, and we mutually terminated the treatment after 22 weekly sessions that included two family meetings. A year later, I contacted Adah for a follow-up in preparation for this case report. She was holding a part-time job as a nursery teacher's aide. Adah reported that although she continued to spend much of her free time in her innocent, colorful fantasy worlds, she had not suffered another incident of misattributing a fantasized event to reality. Her MDS-16 score significantly improved at the follow-up, decreasing from 68 at intake to 49. While her scores for ID remained elevated, she reported a noteworthy reduction in items measuring maladaptation. With her permission, I contacted her father, who provided additional information corroborating the improvements she described.",
"gender": "Female"
}
] |
PMC11022530
|
[
{
"age": 35,
"case_id": "PMC10499282_01",
"case_text": "A 35-year-old male patient suffering from depression presented with an alleged history of an accidental high-velocity gunshot wound to the face, leading to an extensive open burst injury extending from the mandible to the base of the skull [Figure 1a]. Primary resuscitation was done following the Advanced Trauma Life Support (ATLS) Guidelines. The patient was conscious, obeying commands and sitting upright with the head extended to breathe comfortably. He was able to maintain his airway, produce incomprehensible sounds and swallow. On presentation, there was tachycardia (134 beats/min) and hypotension (90/60 mmHg). We resuscitated using crystalloids and supplemented oxygen (15L/min) using a non-rebreathing face mask. We also supplemented analgesia with intravenous fentanyl (50 mg), oral suction with a finger sweep was done and the oropharynx was cleared of debris. His vitals gradually stabilised, and he underwent primary closure of the defect under local anaesthesia in the emergency area [Figure 1b]. A computed tomography scan with three-dimensional reconstruction revealed comminuted fractures of the bilateral maxilla and the mandible [Figure 1c]. There was no radiological evidence of intracranial/cervical spine injury. Pre-anaesthetic airway examination revealed adequate mouth opening, partial tongue prolapse, Mallampati class 3 view, submandibular space oedema and normal range of neck motion. Inside the operation theatre, standard monitoring with bispectral index (BIS) monitoring was instituted. The difficult airway cart (face masks, conventional and video laryngoscopes with a selection of blades, stylets, oropharyngeal airways, supraglottic airway devices, flexible bougies, cricothyroid puncture kit and FOB) was kept ready, with the otolaryngologist team on standby for tracheostomy. Patient was preoxygenated using a face mask with gauze and the circle system circuit (fresh gas flow of 12L/min) to obtain a tight seal across the large defect. He was then sedated with intravenous fentanyl (100 mug), and propofol was administered, titrated to BIS of 60-70, maintaining spontaneous respiration, and supplemented with a nasal prongs (4L/min) throughout the procedure. Laryngoscopy was performed using a C-MAC video laryngoscope, D-Blade (Karl Storz, Tuttlingen, Germany) which lifted the tongue and epiglottis providing a wide panoramic Cormack-Lehane grade 3 view of the glottic aperture. We initially attempted to pass a gum-elastic bougie which proved unsuccessful. In the second attempt, the treating anaesthesiologist used the C-MAC video laryngoscope, D-Blade (Karl Storz, Tuttlingen, Germany), to provide an adequate view of periglottic structures, while another anaesthesiologist used the FOB as a flexible stylet with the endotracheal tube placed over the scope. The tip of the FOB was then manoeuvred around the distorted anatomy, through the vocal cords, and the endotracheal tube was secured, following which rocuronium (70 mg) was administered. The patient then underwent debridement and layered soft tissue repair and intermaxillary fixation with a 25-reconstruction plate [Figure 1d].\nThe surgical procedure was uneventful, and the patient was shifted out on T-piece (6-8L/min oxygen flow) after attainment of full consciousness, reversal of neuromuscular block and generation of adequate tidal volume (450 mL). He was extubated after eight hours after confirmation of the absence of airway oedema using the cuff-leak test and after administration of dexamethasone (8 mg). He also underwent psychiatric assessment and treatment for depression. He was discharged after two weeks, and his three month follow-up was also uneventful.",
"gender": "Male"
}
] |
PMC10499282
|
[
{
"age": 73,
"case_id": "PMC11135378_01",
"case_text": "A 73-year-old male presented with a painless right scrotal lump on a background of metastatic prostate adenocarcinoma and a rising serum prostate-specific antigen (PSA) level of 2.8 ug/L, 4 years after undergoing external beam radiotherapy (EBRT) and androgen deprivation therapy for Gleason 4 + 3 = 7 prostate adenocarcinoma. A scrotal ultrasound revealed a 16 mm x 14 mm lesion in the right epididymis, initially thought to represent phlegmonous change secondary to epididymitis. 18F-DCFPyL-PSMA PET-CT revealed an intensely PSMA-expressing lesion in the right epididymis (SUVmax 12) and which was new from previous PSMA PET scans, suggesting a prostate cancer metastasis. [Figure 1] No other sites of metastatic disease were demonstrated. Retrospective review of the previous ultrasound in view of the findings on PSMA PET demonstrates a lesion compatible with an epididymal metastasis, as opposed to the initial diagnosis of epididymitis. The patient then underwent treatment with novel anti-androgen receptor therapy with subsequent reduction of PSA level, clinical reduction in palpable mass in the scrotum, and PSMA PET/CT showing resolution of the epididymal metastasis. Follow-up PSMA PET showed resolved uptake in the left common iliac node and right epididymis (SUVmax <2.0, less than background) and confirming metastatic foci, the patient had stabilized very low PSA at the last follow-up whilst on therapy (PSA <0.1 ug/L), which was at 18 months.",
"gender": "Male"
},
{
"age": 77,
"case_id": "PMC11135378_02",
"case_text": "A 77-year-old male presented with rising PSA level (PSA 1.1 ug/L), 2 years post robotic radical prostatectomy and pelvic salvage EBRT for Gleason 4 + 4 = 8 prostate adenocarcinoma (positive margin and seminal vesical invasion at resection). 18F-DCFPyL-PSMA PET-CT showed a solitary and intensely PSMA-expressing (SUVmax 9) lesion in the left hemiscrotum. [Figure 2] Retrospectively, a faint focus of PSMA expression was seen in the same location on PSMA PET-CT performed 6 months earlier when the PSA level was 0.6 ug/L and initially interpreted as negative for the disease. Targeted ultrasound confirmed a small hypoechoic lesion within the left epididymis with associated color Doppler vascularity. Given a progressive lesion with anatomic correlate, this was interpreted as a solitary epididymal prostate cancer metastasis and systemic anti-androgen therapy was started. Following systemic therapy, the PSA level declined to <0.005 ug/L at the last measurement at 10-month follow-up.",
"gender": "Male"
},
{
"age": 62,
"case_id": "PMC11135378_03",
"case_text": "A 62-year-old male was imaged with PSMA PET/CT to evaluate biochemical recurrence (PSA level 0.5 ug/L) 3 years post robotic radical prostatectomy for Gleason 3 + 4 = 7 prostate adenocarcinoma. Mild PSMA expression in the scrotum (SUVmax 3.6) was seen and no disease was present elsewhere. [Figure 3] The low level of uptake and bilaterality, (i.e. symmetric pattern in both epidydmi) favors physiological uptake (also supported by the absence of any identifiable lesions on a subsequent ultrasound).",
"gender": "Male"
},
{
"age": 69,
"case_id": "PMC11135378_04",
"case_text": "A 69-year-old male was imaged with PSMA PET/CT to stage biopsy-proven multifocal Gleason 3 + 4 = 7 prostate cancer adenocarcinoma (PSA level 5.1 ug/L). Two small foci of mild PSMA uptake (SUVmax 4) were present in the bilateral scrotum/epididymis. [Figure 4] There was no nodal or metastatic disease otherwise present (clinical stage thus N0M0). This was interpreted as physiological epididymal PSMA expression and the patient is now 2 years prostate prostatectomy with nondetectable PSA level/clinical remission.",
"gender": "Male"
},
{
"age": 60,
"case_id": "PMC11135378_05",
"case_text": "A 60-year-old male was imaged with PSMA PET/CT to stage biopsy-proven Gleason 3 + 3 = 6 prostate cancer adenocarcinoma (PSA level 4.5 ug/L). A unilateral single small focus of mild PSMA uptake (SUVmax 3.8) was present in the right scrotum/epididymis. [Figure 5] There was no nodal or metastatic disease otherwise present (clinical stage thus N0M0). Given the unilateral scrotal uptake, scrotal ultrasound was recommended, which excluded any focal lesion. The patient had 12-month surveillance PSMA PET/CT proving the right scrotal lesion was stable (active surveillance strategy adopted over prostatectomy given only Gleason 3 + 3 = 6 disease).",
"gender": "Male"
}
] |
PMC11135378
|
[
{
"age": 59,
"case_id": "PMC10601746_01",
"case_text": "We present a 59-year-old woman diagnosed with an advanced metastatic high-grade MPUC of the renal pelvis origin. She has been diagnosed with preexisting clinical conditions such as hypertension and hypothyroidism problems. A scan of the renal area revealed a right renal fossa lesion in the right kidney. Her blood work reported an elevated level of adrenocorticotropic hormone and serum cortisol. Histochemical studies are positive for CD10, HMWCK, and GATA-3 antibodies. Histological analyses revealed poorly differentiated carcinoma favoring the MPUC. The tumor cells showed a high nucleus-to-cytoplasmic (N:C) ratio with large irregular hyperchromatic nuclei and focal cytoplasmic vacuolations. Mitotic activity was brisk, with many atypical forms. The patient's mother had leukemia, according to the family history. The patient was started on first-line treatment with immune checkpoint inhibitor (ICI) therapy and chemotherapy later (online suppl. Fig. 1 - case report timeline; for all online suppl. material, see https://doi.org/10.1159/000530710). The CARE Checklist has been completed by the authors for this case report, attached as online supplementary material (online suppl. Table 2).\nThe attending physician sought tumor profiling and multigene panel testing to identify gene variations that may have diagnostic or prognostic importance and potential therapeutic implications. After written informed consent from the patient, DNA was extracted from FFPE blocks using the MN NucleoSpin DNA FFPE XS kit, followed by preparation of the NGS library using the SureSelect XT HS2 DNA system. This hybrid capture-based technology includes 351 genes (Agilent Cancer Core Panel; online suppl. Table 1) subjected to paired-end sequencing on the Illumina NovaSeq 6000 platform. A total of 9.5 GB of raw data were generated, followed by the quality screening of FASTQ files, adapter trimming, mapping of data to the hg38 reference genome, and generation of Sam/Bam files. VCF file was generated using GATK 4.2.2 pipeline. Ensembl VEP and Oncotator performed annotation of the VCF file. g:Profiler, a web server, was used for functional enrichment analysis of the resulting genes. The interaction map was fashioned with the String 10.5 program (http://string-db.org).",
"gender": "Female"
}
] |
PMC10601746
|
[
{
"age": 42,
"case_id": "PMC11113057_01",
"case_text": "A 42-year-old gravida presented herself for consultation at the Ante-natal Clinic during the 8th week of gestation. The patient had previously undergone successful in vitro fertilization treatment following 16 years of primary infertility.\nDuring the 18th week of gestation, the patient complained of symptoms indicative of increased pressure. A pelvic speculum examination and pelvic ultrasound were performed, which confirmed cervical dilatation measuring 2-3 cm and a cervical length of 2.4 cm. No signs of local infection were observed.\nConsidering the patient's advanced maternal age and prolonged history of infertility, she was provided with counseling regarding the potential benefits and risks associated with the insertion of an emergency cervical cerclage. The patient expressed her preference for the immediate placement of an emergency cervical cerclage.\nTo minimize the risk of infection, the patient was prescribed intravenous cefuroxime before the surgery. Under general anesthesia, the cervical cerclage procedure was successfully performed using Mersilene tape (MERSILENE Polyester Fiber Suture, J&J MedTech) Ethicon Inc.(Parent organization: Johnson & Johnson), Raritan, New Jersey, United States. Following the surgery, the patient was discharged in satisfactory condition on the same day. Two days post-surgery, the patient, a primigravida at 22 weeks gestation with a history of bronchial asthma, presented to the hospital with complaints of high fever, lower abdominal pain, and vomiting.\nThe random blood sugar level was measured at 97 mg/dl. The patient exhibited a body temperature of 40C, blood pressure of 112/80 mmHg, pulse rate of 105/min, and oxygen saturation of 95%. The cardiovascular system appeared intact with no audible murmurs. To address the patient's symptoms, Perfalagan and Zinoximor were administered, following which the patient was admitted to the medical ward.\nSubsequently, a vaginal swab was taken, and urine and blood analyses were conducted for further evaluation. In addition, the patient was referred to a chest consultant. Following the assessment, the consultant diagnosed the patient with pneumonia and prescribed the appropriate antibiotics to address the infection. Furthermore, the patient experienced vaginal bleeding, necessitating the removal of the cervical cerclage. Approximately an hour later, the patient unfortunately experienced a stillbirth, with the fetus being spontaneously expelled before the removal of the cervical cerclage.\nHowever, on the following day, the patient exhibited signs of restlessness, dyspnea, and orthopnea while remaining conscious. Additionally, there was a decline in the patient's level of consciousness, accompanied by a decrease in oxygen saturation. The intensive care unit consultant promptly performed intubation to secure the patient's airway and initiated mechanical ventilation by connecting them to a ventilator. Due to the severity of the patient's condition, it was deemed necessary to transfer them to a different hospital with a highly equipped intensive care unit, as septic shock and multiple organ dysfunction had developed. Following the patient's transfer to the intensive care unit, her vital signs were closely monitored to assess her physiological status. Continuous monitoring revealed fluctuations in vital parameters, including persistent high fever, increased respiratory rate, and fluctuating blood pressure. Laboratory tests were conducted regularly to track markers of infection, organ function, and overall systemic health. The patient's complete blood count, inflammatory markers, and coagulation profile were closely scrutinized to gauge the severity of the infection and its impact on various organ systems.\nUnder the guidance of the cardiology consultant, the patient's treatment plan included the administration of Triaxone, Tavanic, Zithromax, and normal saline at a rate of 100 ml/h. The patient was already receiving various medications, including D5 normal saline at 100 ml/h, Lasix 20 mg intravenously every 6 h, Tazocin 4.5 g intravenously every 8 h, Tavanic 500 mg intravenously every 24 h, Vancolon 500 mg every 8 h, Tamiflu 75 mg orally every 12 h, nebulization with Atrovent and Pulmicort, human albumin 100 ml intravenously three times a day, Methylprednisolone 20 mg intravenously every 8 h, and Omacor (capsule) twice daily orally. Additionally, the patient received a stat dose of sodium bicarbonate 100 ml and potassium chloride 60 ml. Requests were made for fresh frozen plasma every 8 h for 2 min and 10 units of platelets.\nTwo days after being discharged, the patient's blood culture and sensitivity results indicated a significant growth of E. coli, necessitating an intensive course of antibiotics. Further investigation revealed a diagnosis of toxic myocarditis. Following 2 months of intensive treatment, the patient showed significant improvement, although there was some mild renal impairment present, and was ultimately discharged home.",
"gender": "Female"
}
] |
PMC11113057
|
[
{
"age": 15,
"case_id": "PMC10858809_01",
"case_text": "A 15-year-old female patient, who is otherwise healthy, was referred to the sarcoma unit at the King Fahad Specialist Hospital for further evaluation and management concerning a lesion in the posterior aspect of the left tibia. The patient reported a history of knee pain that is dull, with no antecedent history of trauma. The pain started to affect her walking, and later, she began to limp on the affected extremity. There were no associated constitutional symptoms.\nPhysical examination showed that the knee was held in 15 degrees of flexion, and there were no localized swelling or skin changes. Palpation showed minimal tenderness at the proximal left tibia. Range of motion showed full flexion but with pain at the extreme range of flexion and an extension lag of 15 degrees both actively and passively. Neurovascular examination is normal, with no local regional lymph node enlargement.\nPlain radiographs of the knee (Figure 1, Panels A and B) showed the lesion, whereas magnetic resonance imaging (MRI) showed the lesion highly suggestive of chondroblastoma (Figure 1, Panels C and D). CT-guided biopsy was done, which showed no evidence of malignancy. So, the constellation of findings is consistent with chondroblastoma.\nAs the tumor was located in the posterior part of the tibia, the decision was made to proceed with endoscopic curettage and filling with bone graft substitute. It would be challenging to approach open surgery through a posterior approach. The patient and family were consulted, and they agreed with the decision to proceed with this option.\nSurgical procedure\nThe patient was placed in a supine position, under general anesthesia and adductor canal block, for postoperative pain relief. An above-knee tourniquet was applied, and then the lower limb was prepped and draped in the usual surgical manner. Surgery started with lesion localization under fluoroscopic control, and the entry point was determined medially and drawn on the patient skin (Figure 2, Panel A). A 2 mm K-wire was introduced into the lesion starting from the medial proximal tibia and directed to the lesion in the anteroposterior (AP) and lateral positions (Figure 2, Panel B). Once the K-wire reached the center of the tumor, we used the cannulated drill over the K-wire up to the lesion's periphery. We then used the anterior cruciate ligament (ACL) reamers gradually up to size 10 mm to the sclerotic wall of the lesion to gain sufficient access and tunnel size to introduce the endoscope and the curettes (Figure 2, Panel C). The procedure was done under fluoroscopic control to ensure proper tracking and avoid reaming the lesion.\nA 30-degree angle endoscope was introduced to visualize the lesion, and variable angle micro-discectomy curettes were used to curette the lesion grossly under adequate visualization by the endoscope (Figure 2, Panel D). With frequent irrigation and curettage, the tumor was cleaned thoroughly and verified by the endoscope. We have also ensured that the overlying cartilage was not penetrated, and the entire tumor was curetted up to bleeding cancellous bone (Figure 2, Panel E). We then utilized argon beam diathermy to cauterize the tumor walls under vision and filled the defect with bone graft substitute, calcium sulfate, and phosphate. C-arm images showed adequate tumor filling, and no extravasation of the bone graft was seen in the joint. The wound was closed in layers, and the skin was closed by subcuticular sutures (Figure 2, Panel F). Tumor samples were sent for the pathology, which showed typical changes of chondroblastoma (Figure 1, Panels E and F). The patient recovered from anesthesia, had a smooth postoperative period, and was discharged the next day in good condition.",
"gender": "Female"
}
] |
PMC10858809
|
[
{
"age": 30,
"case_id": "PMC10887872_01",
"case_text": "A 30-year-old male patient with dark brownish red maculopapules on the trunk and extremities for more than 10 years was admitted to our hospital in November 2020.\nMore than 10 years ago, the patient developed dark red maculopapules on his trunk without definite inducement. As these skin rashes had no obvious pain or itching, he did not consult a doctor. Subsequently, the number of skin lesions gradually increased, and his limbs were also involved. The patient had more than 50 lesions in the first few months, and then increased to more than 200 lesions, and over the next 10 years, the lesions were relatively stable 258 lesions were found at the time of visit.\nThe patient was in good health prior to the occurrence of these lesions, and no similar diseases were observed in his family.\nPhysical examination revealed multiple dark reddish-brown maculopapules on the trunk and limbs, without scaling. The maculopapules varied in size from a grain of rice to a mung bean (Figure 1). \nLaboratory tests showed negative results for the whole set of anti-nuclear antibodies, HIV and tumor.\nDermoscopy showed a red homogeneous pattern in the center with a brown pigment network around it (Figure 2). \nHistopathological examination of the skin lesions showed epidermal hyperplasia and the rete ridges extended downward in the shape of high-heeled shoes with increased pigment in the basal layer. Hyperplasia of collagen fibers and fibroblasts in the middle and lower dermal layers was found, mixed with histiocytes (Figure 3).",
"gender": "Male"
}
] |
PMC10887872
|
[
{
"age": 18,
"case_id": "PMC10951795_01",
"case_text": "We present the case of an 18-year old adolescent male who came to our neurosurgical attention in October 2022 because of a fourth ventricular neoplasm. Brain magnetic resonance imaging (MRI), performed in the context of persistent headaches and intermittent paresthesia in his left hand, revealed a mass with homogenous contrast enhancement in the fourth ventricle reaching the craniocervical junction with a slight mass effect on the medulla oblongata (Fig. 1). This lesion did not protrude into the foramen of Magendie nor through the foraminae of Luschka. Moreover, two other lesions were noted. One located in the suprasellar region at the infundibular recess and pituitary stalk and another smaller lesion (6 x 5 mm) located in the left internal auditory meatus (Fig. 2). No compression of the pituitary gland was observed. These lesions did not show cystic components nor pathological diffusion restriction. Furthermore, a prominent supratentorial ventricular system was noted. A whole spine MRI did not show any abnormal signal intensities of the myelum nor any signs of drop metastases (Fig. 1). Based on clinical and radiological findings, the following differential diagnosis was postulated: multifocal germ cell tumor (due to midline localization), ependymoma, meningioma, schwannoma (for the lesion in the internal auditory meatus), hemangioblastoma and choroid plexus tumor. The preliminary diagnosis at that time, based on available clinical and imaging information, supported ependyoma.\nAnamnesis revealed long-existing bifrontal headache, more pronounced in the morning and associated with nausea without vomitus, as well as intermittent paresthesia in all digits of his left hand. No other abnormalities or symptoms were described, in particular absence of paresthesia or motor deficits elsewhere, nor presence of B-symptoms. Examination of his medical records showed an uncomplicated birth at term, as well as absence of any antecedents or developmental delays. He did not take any prescription drugs. Familial anamnesis showed the following oncological status: mesothelioma (paternal grandfather), BRCA-negative breast carcinoma (paternal grandmother) and urothelioma (paternal great-grandmother).\nClinical examination showed normal vital signs and a normal height and weight according to age was noted. No hepatosplenomegalia, dysmorphia's, syndactylia nor polydactylia was observed. Dermatological exploration showed a large naevus flammeus at the anterior aspect of his lower leg, as well as congenital cafe au lait spots at his right elbow and infra-umbilical region. Ophtalmological examination showed slight decreased vision at distance of his left eye (0.63 + 2 mec), as well as grade one papilledema of both eyes on fundoscopy. Fluoroscopy was negative, making the possible etiology of von Hippel-Lindau disease less presumable. Neurological examination was within normal limits, in particular normal cranial nerve function, normal vision, normal motor and sensory function in upper and lower limbs, as well as absence of limb ataxia and a normal gait.\nLaboratory findings showed no abnormalities, with normal hormonal function (besides aspecific low IGF-1 values) and normal plasma concentrations of beta human chorion gonadotrophin (beta-hCG) and alpha fetoprotein (AFP).\nFirst, we obtained cerebrospinal fluid (CSF) by means of placing a right frontal external ventricular drain (EVD). CSF results were negative for beta-hCG and AFP. Since germ cell tumor was not likely, we performed neuromonitoring-guided partial resection and obtained biopsies of the mass in the fourth ventricle during the same operation. With our patient in concord position, we performed a suboccipital craniotomy and partial resection of the posterior arch of C1. Because of the adhesion to the rhomboid fossa, partial resection was performed. Due to the association of CPP's and heritable cancer syndromes, a mutation analysis was formed.\nPostoperative course was uneventful and without neurological deficits, although a normo-osmolar hyponatriemia did develop which resolved completely by means of fluid restriction. A postoperative MRI, performed the day after surgery, confirmed partial resection of the fourth ventricular mass with decrease of supratentorial ventriculomegalia. In the first day after surgery, the EVD had to be opened several times in the context of intracranial hypertension (short duration ICP's above 50 mmHg). Because the intracranial pressure normalized and he had no headaches, the EVD could be removed five days after primary surgery.\nHowever, two days after removal of the EVD (eight days after primary surgery), our patient began to complain about increased headaches. A CT scan showed an increased volume of the supratentorial ventricular system. Therefore, we decided to place another EVD through the previously made burr hole. Since a second surgery was planned in order to remove as many tumor as possible in the fourth ventricle, we decided not to place a ventriculoperitoneal shunt (VPS) right away, in order to prevent shunt obstruction or possible peritoneal tumor seeding. Twelve days after first surgery, gross total resection through the same approach was performed under neuromonitoring (Fig. 2). Postoperatively, no neurological deficits were noted. However, due to persisting headaches two days after second surgery (fourteen days after first surgery), as well as increased caliber of the lateral ventricles and obstruction of the foramen of Magendie on MRI, removal of a blood cloth in the fourth ventricle was deemed necessary. The EVD was left in situ with controlled continuous evacuation of hemorrhagic CSF. Twentysix days after first surgery, our patient required permanent CSF diversion by means of a VPS.\nNo circulating tumor cells were found on CSF examinations. Histological findings showed the presence of abundant calcifications, a papillary architecture with pseudostatified columnar epithelium, as well as absence of atypia or increased mitotic activity. Immunohistochemistry was negative for SSTR2a, EMA, H3K27M, NeuN, CK20, CK7, CD30, OCT3/4 and olig2, while positive for synaptophysin, S100 (low) and prealbumin. KI-67 showed a very low mitotic activity (2-3%). Next Generation Sequencing (QIAamp DNA Mini Kit) showed no mutations for ACRV1, ATRX, BRAF, CDK6, CDKN2A, CIC, DAXX, EGFR, FUBP1, H3F3A, H3F3B, HIST1H3B, HIST1H3C, IDH1, IDH2, MET, NF1, PIK3CA, PDGFRA, PTEN and TP53, although a TERTp (C228T, VAF 39%) amplification was found. No fusion mutations for EGFR, BRAF, FGFR1, FGFR2, FGFR3 or NTRK were mentioned. A DNA methylation assay (Infinium HD Methylation EPIC array and QIAamp DNA Mini Kit) showed no mutations for NF2, TP53, BRCA1, BRCA2, CHEK2, PALB2, ATM, BRIP1, RAD51C, RAD51D, MLH1, MSH2, MSH6 and BARD1. Final genetic analysis showed a CPP of the adult subtype with a negative MGMT promotor hypermethylation status. Therefore, based on these findings, adult-subtype CPP WHO grade 1 was eventually confirmed.\nIn the following months, regular clinical and MRI checkups were scheduled. An audiogram was performed, both in the context of the lesion in the internal auditory meatus, as well as in the follow-up after adjuvant chemotherapy. This showed a normal pure-tone audiometry and tympanometry (normal Jerger A curve) with presence of otoacoustic emissions in both ears.\nIn August 2023 (ten months after his first presentation) growth of the suprasellar lesion was noted. Our patient still did not notice any neurological deficits. Because of volume increase of the suprasellar lesion, a stereotactic biopsy was performed. We decided to obtain histological confirmation by means of a stereotactic biopsy rather than to pursue gross total resection, since there was still a possibility of a synchronous histological suprasellar germ cell tumor for which resection is not the preferred treatment modality. Postoperative course was uneventful and without neurological deficits. Anatomopathological examination was similar to our first results, in particular an adult-subtype CPP in the suprasellar region.",
"gender": "Male"
}
] |
PMC10951795
|
[
{
"age": 12,
"case_id": "PMC10753625_01",
"case_text": "A 12-year-old female presented with a painful swelling in the anterior aspect of the left forearm. The lesion had first been noticed 1 year ago and increased in size gradually over this period. On examination, there was a single movable intradermal nodule measuring about 1 cm, covered by a purple-colored skin. There was no skin ulceration or satellite nodules (Figure 1).\nComplete excision was performed with free margins and the specimen was sent to the pathology department. Histopathological examination of the specimen revealed a circumscribed multinodular intradermal tumor (Figure 2A) (Figure 2B). The tumor nodules were separated by edematous and hyalinized stroma and consisted of small dark basaloid cells at the periphery with centrally located large pale cells and intratumoral lymphocytes (Figure 2C) (Figure 2D). In addition, small ductal structures were identified (Figure 2D). There was no connection to the overlying epidermis. Based on histopathological features, a diagnosis of eccrine spiradenoma was made.\nThe patient underwent routine follow-up. After 18 months, she presented with a subcutaneous painful nodule at the same location as the previous tumor. The nodule was completely excised and histopathological examination showed a recurrent eccrine spiradenoma.",
"gender": "Female"
}
] |
PMC10753625
|
[
{
"age": 45,
"case_id": "PMC10961464_01",
"case_text": "A 45-year-old female patient presented at our hospital, complaining of persistent loss of appetite and nausea for over a month, worsening over the past two weeks. Her family, drug, past medical, and past surgical history were negative. An ultrasound examination had identified a large abdominal mass (Sep., 2020). A subsequent CT/MR scan (Sep. 17, 2020) disclosed a large irregular mass fused among the gastric cavity, pancreas, and spleen, with its largest cross-section measuring approximately 13x16x8cm (Figure 1). An ultrasound-guided biopsy (Sep. 23, 2020) of the tumors in the left upper abdomen displayed epithelial-derived tumors with glandular tubule-like and papillary structures. Immunohistochemistry results, including AE1/AE3 (3+), CK7(2+), ACT (3+), AAT (3+), CK20(-), CD56(-), Syno (-), chrA (-), CD10(-), B-Catenin (+), ER (-), PR (1+), WT-1(-), CATA3(-), CD34(-), and Ki-67 (+35%), led to the diagnosis of PACC. From October 30, 2020, to November 14, 2020, the patient completed two cycles of chemotherapy with \"nab-paclitaxel 200 mg d1/14 days repeat\" (Figure 2). Despite tolerating this regimen, a subsequent CT scan indicated an increase in the size of the mass, with its largest cross-section measuring approximately 17.8x10 cm, classified as progressive disease (PD).\nNext-generation sequencing results revealed a KRAS mutation with a mutation frequency of 5.26%; HRD positive, 50 points, TMB at 21.4/Mb, indicating high TMB. PD-L1-positive expression and high TMB have been reported to potentially predict improved response of tumors to immunotherapy. Despite the absence of PD-L1 expression data in this patient's biopsy pathology, the high TMB suggests a possible responsiveness to immunotherapy. Lacking standard treatment and with request to try immunotherapy by the patient, we utilized Toripalimab, an anti-PD-1 inhibitor, with the consideration of medication availability and the patient's financial capacity. From December 05, 2020, to July, 2021, the patient was administered six cycles of \"Toripalimab 240mg d1 + Bevacizumab 300mg d1/21 days repeat\". The tumor response was assessed by CT scans every two cycles. The tumor size decreased progressively and was reduced to 6.2x4.4 cm after six cycles, resulting in a partial response (PR) (Figure 1). Notably, following two cycles of immunotherapy, the patient experienced recurring systemic subcutaneous soft tissue nodules, primarily in the buttocks and lower limbs, which presented with pain and resolved spontaneously (Figures 3 and 4). A guided ultrasound of the left hip nodule showed protein exudation and tissue cells but did not support metastasis. Based on the immunotherapy application, we suspect that the nodules might be an adverse reaction caused by the immunotherapy.\nFollowing an MDT discussion, surgical intervention was recommended. With the patient's consent, she underwent a surgery \"splenectomy with distal pancreatectomy + partial colectomy + partial gastrectomy\" on Aug. 24, 2021. The resected tissue was submitted for pathological analysis, which confirmed a diagnosis of PACC. Notably, the tumor exhibited extensive degeneration and necrosis, in conjunction with cystic transformation, interstitial fibrosis, and infiltration by inflammatory cells:a constellation of findings indicative of post-therapeutic alterations. The greatest dimension of the remaining tumor reached 2.5 cm. It was found to be adherent to both the gastric and intestinal walls but refrained from direct infiltration into their tissue. The tumor extended to the spleen's capsule, yet spared the splenic parenchyma, with no evidence of invasion into the vascular or neural structures. The pancreatic, gastric, and intestinal margins were free of cancer, with no metastatic cancer found in the lymph nodes (0/17); ypT2N0. The treatment elicited a notable response, however, it fell short of achieving a complete pathologic response.\nThe resected tissue was further submitted for immunohistochemical and genetic testing. The immunohistochemistry results were as follows: MLH1 (+), PMS2 (+), MSH2 (+), MSH6(+), P53 (+20%), PD-L1 Neg (-), PD-L1 (22C3) (CPS=0), AAT (3+), ACT (3+), CK7 (3+), CK19(-), AE1/AE3 (3+). Genetic testing yielded the following results: an APC gene exon 16 mutation; KRAS, NRAS, PIK3CA, and BRAF were all negative; no ALK, FGFR, ROS1, RET, NTRK gene translocations were shown; no HER2, CMET, EGFR gene mutations were shown; TMB was 1 mutation/Mb; MSS type.\nAfter achieving R0 resection, we anticipated that the continuation of immunotherapy would not confer additional benefits, but rather increase the patient's economic burden and adverse reactions. Therefore, we opted not to proceed with immunotherapy post-surgery, but used chemotherapy and targeted therapy instead. The patient received three cycles of \"bevacizumab 400mg on day 1 + oral capecitabine 1g in the morning and 1.5g in the evening, repeated on days 1-14 every 21 days\" from Nov. 3, 2021, to Dec. 18, 2021. \"Oral capecitabine 1g in the morning and 1.5g in the evening, repeated on days 1-14 every 21 days\" monotherapy was continued for six months, from January to June, 2022. A Grade II gastrointestinal reaction was observed. Regular follow-ups were conducted, and no signs of tumor recurrence were found during the 20-month follow-up period after surgery (last examination date: Apr. 4, 2023).",
"gender": "Female"
}
] |
PMC10961464
|
[
{
"age": 60,
"case_id": "PMC10663329_01",
"case_text": "A 60-year-old Chinese male presented with upper abdominal pain accompanied by dizziness and palpitations for 2 days. The patient's heart function was classified as NYHA functional class IV, and vital signs and blood biochemistry tests showed no critical indicators. Transthoracic echocardiography (TTE) revealed a myocardial dissection with a pouch-like protrusion into the right ventricle, interrupted wall echo in the septum and the basal segment of the left ventricular anterior wall, with an adherent hyperechoic structure within (Figure 1). A dual-source CT scan shows the diameter of the ascending aorta to be approximately 4.8 cm. There was a BAV and fusion of the left and right aortic sinuses, with an outward protrusion forming a cavity in the anterior aortic sinus. Myocardial dissection formation, likely due to rupture of the anterior aortic sinus, was suspected. The neck of the aneurysm had a diameter of approximately 1.4 cm, and the morphology of the aneurysm was irregular, with localized pushing on the left coronary artery (Figure 2).\nAfter multidisciplinary consultation, the patient was diagnosed with a bicuspid aortic valve anomaly combined with a ruptured sinus of Valsalva and intramural hematoma within the interventricular septum, the basal segment of the left ventricular anterior wall, and the anterior lateral wall. Because of the patient's preexisting valve condition, we also noted the presence of moderate mitral valve regurgitation and tricuspid valve regurgitation. During our surgical exploration, we observed the formation of a partial thrombus within the heart.\nAfter obtaining the patient's informed consent, surgical intervention was initiated. The procedure commenced with a midline sternotomy, revealing a dilated ascending aortic aneurysm upon opening the pericardium. Notable flutter was observed in the pulmonary artery and the conus of the right ventricle. Aortic and bicaval cannulation was performed to initiate extracorporeal circulation. Intraoperative exploration revealed left ventricular enlargement, bicuspid aortic valve deformity with anterior-posterior orientation, leaflet thickening, and calcification. A longitudinal tear of approximately 2 cm was evident in the aortic sinus, extending all the way to the interventricular septum and the posterior wall of the left ventricle, accompanied by the formation of an intracavitary thrombus (Figure 3). Following the exploration, repairs of the aortic sinus, the Cabrol procedure, and annuloplasty of the aortic valve were performed. We utilized a 21 mm mechanical valve prosthesis for the aortic valve replacement and completed interrupted sutures along the aortic annulus. Subsequently, aortic replacement was carried out using dacron tube, and approximately 0.7 cm of prosthetic material was employed for indirect coronary reimplantation in the Cabrol procedure. Subsequent transesophageal echocardiography revealed no significant regurgitation, and myocardial function was within the normal range. Closure of the atrial septum and the right atrium was performed. Partial pericardial closure was meticulously carried out to ensure hemostasis, followed by chest closure.\nPostoperatively, the patient experienced a smooth recovery, with normal mechanical valve opening and closing sounds. CT scans revealed a satisfactory anastomosis of the aorta and coronary arteries, while transthoracic echocardiography (TTE) indicated a significant improvement in left ventricular ejection fraction and anterior wall motion (Figure 4). During a three-year follow-up, the patient's outcome remained favorable.",
"gender": "Male"
}
] |
PMC10663329
|
[
{
"age": 59,
"case_id": "PMC10750864_01",
"case_text": "A 59-year-old woman presented with a mass situated between her right middle finger and ring finger. The mass had been apparent for 1 year and was slightly painful and erythematous, and gradually increased in size ( Figures 1A, B ). Physical examination revealed no bleeding or numbness. Moreover, the tinel sign was negative and the range of motion of the middle and ring fingers was normal. Magnetic resonance imaging (MRI) revealed a low-intensity signal on T1-weighted images ( Figures 2A, D ) and high signal intensity on both T2-weighted images ( Figure 2B ) and T2 short tau inversion recovery images ( Figures 2C, E ). Homogeneous enhancement was noted on gadolinium-enhanced T1-weighted images ( Figure 2F ).",
"gender": "Female"
}
] |
PMC10750864
|
[
{
"age": 65,
"case_id": "PMC10871161_01",
"case_text": "A 65-year-old female patient who had previously been diagnosed with hypertension presented complaining of generalized abdominal pain, more prominent in the epigastric region, that had been ongoing for two months. She characterized it as dull, non-radiating, more noticeable while she is resting on her back, and occasionally accompanied by nausea and vomiting of partially digested meals. The patient denied hematemesis, melena, hematochezia, fever, or diarrhea. She denies any history of alcohol intake or smoking.\nOf note, the patient had a history of left hemicolectomy with colorectal anastomosis six months before presentation (02/24/2023) for large tubulovillous adenoma with high-grade dysplasia in the sigmoid that caused recurrent colitis.\nOn admission, the vitals were stable, the patient was comfortable, and not in acute distress. An abdominal exam revealed a healing surgical scar and a soft abdomen with mild tenderness in the epigastrium. Laboratory findings revealed a hemoglobin of 10.2 g/dl (normal value: 12-16 g/dl). The liver function test, kidney function test, lipase, amylase, and inflammatory markers were normal. The stool occult blood test was positive.\nColonoscopy revealed patent end-to-end colorectal anastomosis, with intact appearance and visible sutures. EGD revealed scattered mild inflammation characterized by congestion (edema) and erythema in the gastric fundus (Figure 1).\nA non-bleeding diverticulum was found in the gastric antrum (Figure 2). Biopsies for H. pylori testing were negative. The patient was treated medically with an oral proton pump inhibitor (PPI), and her symptoms improved upon follow-up appointments.",
"gender": "Female"
}
] |
PMC10871161
|
[
{
"age": 10,
"case_id": "PMC11074860_01",
"case_text": "A 10-year-old boy presented with recurrent colicky pain in the lower abdomen for 3 months. Initially, the pain was mild, causing him to skip school occasionally, but relieved with nonnarcotic pain medication. He then developed more severe pain with associated abdominal distension, emesis, and complete absence of stool passage or flatus. He had completed antitubercular therapy one year back for Koch's abdomen (tuberculosis of the abdomen as informed by the mother, details of which were not known). There was no history of surgical interventions in the past. On examination, the abdomen was distended with tenderness, rebound tenderness in the lower abdomen, and localized guarding. A digital rectal examination showed an empty rectum with collapsed lumen.\nHe was evaluated with noncontrast CT imaging of the abdomen, which revealed thickening of the distal ileum with proximal small bowel dilation and subcentimeter mesenteric lymph nodes suggestive of possible tubercular involvement. Radiolucent thread-like foreign bodies in the terminal ileum also were concerning for possible intraluminal worms (Figure 1).\nHe underwent exploratory laparotomy via a midline incision. Intraoperatively, there was 300 mL of ascitic fluid (culture was sterile with normal adenosine deaminase levels). Small bowel was encased in a cocoon and filled with roundworms. There was a formation of worm balls in the proximal jejunum and ileum causing obstruction. A segment of ileum, two feet away proximal to the ileocecal junction, was found to be ischemic and was resected. The worms were extracted both from proximal and distal bowel (Figure 2). An incidental appendectomy was performed, and a loop ileostomy was matured in the right iliac fossa.\nPostoperatively, he was treated with syrup albendazole 400 mg, along with iv ceftriaxone and metronidazole. On POD 2, there was passage of a worm in the stoma. Foley's catheter was inserted in the distal loop of stoma and irrigated with albendazole solution for three consecutive days. Oral antihelminthics were changed to mebendazole for two weeks. The ileostomy was functioning well, and the child improved with treatment. After 20 days, abdominal CT with oral contrast and distal loopogram confirmed no residual worms in the small and large bowel. He underwent an early reversal of the ileostomy. He had an uneventful postoperative course and was discharged on postoperative day 6. Histopathology showed roundworm eggs in the appendix and small bowel mucosa and lumen with no evidence of tuberculosis. (Figure 3).",
"gender": "Male"
}
] |
PMC11074860
|
[
{
"age": 3,
"case_id": "PMC11033401_01",
"case_text": "A palpable abdominal mass was identified in a 3-year-old asymptomatic girl (weight 16.8 kg, height 104.5 cm, BMI 15.4 kg/m2) during a pre-kindergarten admission physical examination and confirmed via ultrasound in the outpatient department. The patient had normal bowel movements and no history of urinary tract infections, unexplained fevers, hematuria, dysuria, weight loss, recent abdominal trauma, or surgery. There was no significant family history of cancer or neurological deficits. Clinical evaluation revealed a painless cystic mass measuring approximately 12 cm in diameter on the left flank. Rectal palpation did not reveal any abnormalities. While neuron-specific enolase (NSE) levels were slightly elevated (20.76 ng/ml), other tumor biomarkers (carbohydrate antigen 125, carbohydrate antigen 199, carcinoembryonic antigen, alpha-fetoprotein, human chorionic gonadotropin) were within normal ranges. Routine blood tests, blood biochemistry, and urinalysis showed no abnormal findings. The abdominal ultrasound indicated a large hypoechoic mass characterized by a thick wall, septations dividing cystic spaces, absence of mural nodules, and no blood flow signals on color Doppler flow imaging (Figure 1A). Intravenous contrast-enhanced abdominal-pelvic computed tomography (CT) imaging revealed a retroperitoneal cystic lesion measuring 135 mm x 117 mm x 186 mm (Figures 1C,D,F) without invading adjacent structures but displacing the left kidney downward (Figure 1E), pancreas upward (Figure 1D), and intestine rightward (Figures 1B,C). The capsule and septa showed slight enhancement, while the cystic components lacked enhancement (Figures 1B,C). Due to insufficient financial capabilities, magnetic resonance imaging (MRI) was not performed. The differential diagnosis included a cystic teratoma, bronchogenic cyst, or cystic lymphangioma, prompting further investigation through laparoscopy for definitive diagnosis and treatment.\nLaparoscopic exploration was commenced using three 5-mm ports in the supine position. During laparoscopic observation, a large thick-walled retroperitoneal cyst was identified (Figure 2A), extending toward the spleen, adrenal gland, cauda pancreatis, and down to the left ovarian appendage. The cyst exhibited a complete capsule, regular morphology, and no signs of hemorrhage. An intraoperative diagnosis of a retroperitoneal benign cyst, likely a cystic lymphangioma, was established. Due to the size of the mass, a 5-mm port was added, and the cystic volume was reduced using a fine needle. Approximately 500 ml of clear yellow cystic fluid was aspirated. To prevent spillage of the cyst content during the procedure, the puncture hole was sealed with electrocoagulation. Notably, significant adhesions were observed between the lesion in the left anterior pararenal space (Figures 2B,C) and the aorta ventralis (Figure 2E), inferior vena cava (Figure 2E), and left renal pedicle (Figure 2D). This scenario led to the consideration of a macrocystic cystic lymphangioma. Consequently, complete resection with cystectomy was performed (Figure 2F). The operation lasted 235 min, with about 20 ml of intraoperative bleeding. Postoperatively, there were no incidents or complications, and the patient fully recovered within 10 days and was discharged.\nThe resected thick-walled retroperitoneal cyst measured 120 mm x 98 mm. Histologically, the cyst wall consisted of fibrous connective tissue, mature central neuroepithelium (Figure 3A), nerve bundles (Figure 3B), and ganglia (Figure 3C). The neuroepithelium predominantly consisted of astrocytes with round or ovoid nuclei. The cytoplasm contained glial filaments, and there was no evidence of nuclear anisotropy or nuclear schizophrenia. Immunohistochemistry (IHC) confirmed strong positive expression of glial tissue using glial fibrillary acidic protein (GFAP) (Figure 3D). S100 also exhibited positivity in both the glial tissue and nerve bundles (Figure 3E). Weak positive expression of NSE was observed in the glial tissue, while positive expression was seen in the nerve bundles and ganglia (Figure 3F). No other embryonic derivatives or indications of malignancy were detected. These findings strongly support a diagnosis of cystic neuroglial heterotopia.\nA 2-year follow-up ultrasound evaluation showed no signs of relapse. Further imaging modalities such as CT and MRI were not pursued due to the absence of positive findings on ultrasonography and limited financial resources. The parents expressed satisfaction with the outcomes of the laparoscopic treatment, citing reduced postoperative pain and minimal scarring as key benefits.",
"gender": "Female"
}
] |
PMC11033401
|
[
{
"age": 12,
"case_id": "PMC10998503_01",
"case_text": "The patient was a 12-year-old boy who weighed 101 kg and had a history of AD since childhood. He presented with recurrent erythema, scales, and severe itching [Pruritus-Numeric Rating Scale (P-NRS) score of 8/10] on his face, trunk, and extremities 18 months previously and a round patch of hair loss on the scalp 16 months prior. Previous treatment with oral Chinese herbal medicine, oral antihistamines, and dupilumab for 4 months (initial dose of 600 mg, followed by 300 mg every 2 weeks) resulted in minimal improvement. Physical examination showed extensive symmetrical red patches and papules with scales on his face, trunk, and extremities, notably accompanied by significant yellow crusts and exudates on his face [Investigator's Global Assessment (IGA) score of 5, Eczema Area Severity Index (EASI) score of 34] (Figure 1a, c-e). The occipital scalp showed a coin-sized patch of hair loss (Figure 1b). Routine laboratory tests showed an increased immunoglobulin E level (510 kU/L). Other laboratory values, including complete blood counts, liver and kidney function tests, tumor markers, hepatitis markers, and screening tests for tuberculosis, were normal. The patient was diagnosed with severe AD and treated with oral abrocitinib (200 mg/day). After 12 weeks of treatment, his skin manifestations improved significantly, and hair regrowth occurred in the affected area of the scalp [P-NRS score of 2/10, IGA score of 1, EASI score of 2.2] (Figure 2a-e). The dose of abrocitinib was then reduced to 100 mg once daily, and the patient remained under treatment and follow-up. More than 1 year after commencement of therapy, the patient had experienced complete resolution of his AA symptoms with only mild relapse of the AD lesions [IGA score of <=2] during the follow-up period, and no adverse events had been observed.",
"gender": "Male"
}
] |
PMC10998503
|
[
{
"age": 35,
"case_id": "PMC11403671_01",
"case_text": "We present a 35-year-old nulligravida who came to the outpatient clinic of Havana Specialist Hospital, Surulere Nigeria, West Africa with 14-year history of progressive abdominal swelling. The abdominal swelling has grown over the past years to reach her epigastric region with associated shortness of breath especially on exertion. There was occasional diffuse abdominal pain with no change in her menstrual pattern. She has a 28-day regular menstrual cycle with 4 to 5 days of moderate flow. She admitted to intake of some herbal products with undisclosed names. She has no drug allergy. There was no constipation but had easy satiety. There was no progressive weight loss, foul smelling vaginal discharge or yellowness of the eyes. She is not a known hypertensive or diabetic mellitus patient. She has no history of surgery or blood transfusion in the past. The patient admitted being afraid of possible surgery and hence stayed away from hospital premises and consultation over a period of 14 years. She does not smoke cigarettes or tobacco in any form. She is aware of modern contraception but does not use any. She is married in a monogamous family setting. Physical examination revealed a firm abdominal mass with a symphysio-fundal height of 55 cm (Figure 1). The mass was non tender. There were epigastric and hypochondria fullness. Could not get below the mass but could get above it just about 2 cm short of the xiphisternum.\nUltrasound scan:Revealed no free peritoneal fluid, normal bowel loops, no mass on the bowel nor any para-aortic lymphadenopathy seen. The liver was of normal size with a span of 133 mm having a smooth outline and normal parenchymal echogenicity. There was no focal lesion seen. The intra and extra hepatic ducts and vessels were normal. The kidneys were normal in size with normal cortico-medullary differentiation. There were no masses nor calculus seen. The urinary bladder wall was smooth and of normal size. There was no mass or calculus seen within it. The uterus was markedly enlarged at 330 x 290 x 267 mm with normal endometrial plate thickness measures 9.67 mm. There were submucous and intramural oval hypoechoic nodes less than 10 mm, some with echogenic rings, some with echo free areas located in the fundal, anterior, and posterior aspects with sizes ranging from 33 x 31 mm to 138 x 133 mm. The ovaries were visualized and normal in size and echotexture. There were no adnexal masses seen, the pouch of Douglas was clear.\nShe had Axial T1, axial T2, Coronal T1, coronal T2, MRCP 3D Magnetic Resonance Imaging (MRI) which revealed an enlarged uterus extending to the right sub hepatic and left hypochondriac regions with heterogenous myometrium due to multiple myomata with the following locations [fundal sub-serosal:26 x 170 mm; anterior sub serosal:151 x 148 mm; posterior intramural 118 x 84 mm; posterior intramural 45 x 38 mm; 49 x 25 mm; right lateral intramural:49 x 37 mm; anterior intramural:57 x 36 mm; 54 x 35 mm; anterior cervical:205 x 176 mm] . distorted endometrium. The ovaries were not visualized with the enlarged uterus demonstrating a mass effect on the kidneys, stomach, and urinary bladder. The liver had a normal span of 150 mm with normal homogenous signal intensity. There was no mass seen within the parenchyma. The spleen, gall bladder, pancreas, stomach, small and large bowel were normal. There was no area of peritoneal fat stranding, ascites or adenopathy noted. The colon showed good distension with no mural lesion or area of structuring or mucosal outpouching noted within it. The kidneys were normal in size, outline, position, and excretory function with no mass or pelvicalyceal dilatation in either kidney. The adrenal glands were normal bilaterally with no mass noted within it. The urinary bladder was normal. There were no adnexal mass(es) seen.\nThe tumor markers revealed CA 125 of 48.7/ml (0.0-35); alpha fetoprotein of 3.0 kU/l (<7.3); CEA (Carcino-embryonic antigen) of 4.8 microg/l (non-smokers:0-5.0 microg/l); Her full blood count, kidney function and liver function were essentially normal. She was assessed for HIV I and II and were negative.\nShe was counseled and informed consent was obtained for open myomectomy with possibility of an abdominal hysterectomy under General anesthesia with endotracheal intubation. The general surgeons and urologists were informed for a multidisciplinary approach intraoperatively.",
"gender": "Female"
}
] |
PMC11403671
|
[
{
"age": 39,
"case_id": "PMC11334135_01",
"case_text": "A 39-year-old male presented with an arrow injury to the nose causing severe epistaxis and associated symptoms of headache and mild pain with head movement. Despite the absence of loss of consciousness or limb weakness, immediate attention was required. Successful management involved posterior nasal packing to address the epistaxis, with stable vital signs throughout. The arrow's trajectory, as revealed by computed tomography (CT), showed penetration into the nasal cavity, reaching the floor at the posterior end of the palatine bone and causing a minor fracture at the anterior arch of the Atlas. Consultation with an orthopedic spine surgeon determined no active interventions for the minor fracture. Thorough preparation for arrow removal included blood provision, consent for potential artery ligation, and nasal decongestion. Under general anesthesia, the arrow was carefully extracted under endoscopic guidance, with mild post-removal bleeding controlled by nasal packing. After 48 hours of observation, the patient was discharged, exhibiting good health, and recovery at the 1-month follow-up (Figure 1).",
"gender": "Male"
},
{
"age": 36,
"case_id": "PMC11334135_02",
"case_text": "A 36-year-old male presented with an arrow injury to the medial end of the right supraorbital region, resulting in a brief loss of consciousness and complaints of headache. Despite the absence of epistaxis, visual disturbances, nausea, or vomiting, and with a stable level of consciousness, CT revealed the arrow's trajectory from the super medial part of the orbit, through the floor of the frontal sinus, and into the left ethmoidal sinus. Pneumocephalus was observed in the left frontal and parietal lobes along the falx. A multidisciplinary discussion involving Otolaryngology, Neurosurgery, and Ophthalmology departments determined the treatment plan. The arrow, lodged 6 cm deep, was removed under general anesthesia, accompanied by repair of a dural tear over the roof of the left ethmoid using adipose tissue, fascia lata, fibrin glue, and gel foam. The patient received intravenous antibiotics for 2 weeks, experiencing an uneventful recovery and discharge after 2 weeks. Follow-up at 1 month revealed parosmia but no cerebrospinal fluid leakage, resolving completely at the 3-month mark (Figure 2).",
"gender": "Male"
},
{
"age": 40,
"case_id": "PMC11334135_03",
"case_text": "A 40-year-old male sustained an arrow injury to the anterior neck which he removed himself. He was airlifted, and upon arrival at the emergency room, he complained of neck pain, odynophagia, and mild shortness of breath. There was a 1 cm wide puncture wound just above the suprasternal area with no active bleeding. Fiber-optic laryngoscopy revealed mobile bilateral vocal cords, and CT showed the arrow had traversed the lower part of the thyroid cartilage, entering the subglottis and hypopharynx. Awake tracheostomy was performed due to anticipated intubation challenges, followed by the removal of meticulous dissection of tissue around 4.5 cm deep to trace the path of the arrow under general anesthesia and thorough wound debridement. The patient recovered well, experiencing surgical emphysema which was managed conservatively. Discharged on postoperative day 10, he resumed normal activities without complications (Figure 3).",
"gender": "Male"
},
{
"age": 42,
"case_id": "PMC11334135_04",
"case_text": "A 42-year-old man presented with an arrow injury to the left side of the face during an archery match. Experiencing a dull, heavy headache and a brief blackout episode, he had no ENT bleeding, neurological deficit, nausea, vomiting, or seizures. CT revealed the arrow's path from the left maxillary sinus to the base of occiput. Multidisciplinary consultations yielded no active interventions. A 10 cm deep arrow was removed through small incisions, with no active bleeding observed. The patient received antibiotics and was discharged. One month post-operation, he was doing well with minimal scarring on the face (Figure 4).",
"gender": "Male"
},
{
"age": 35,
"case_id": "PMC11334135_05",
"case_text": "A 35-year-old man experienced a compound arrow injury during a friendly archery match, with the arrow piercing the left side of his face. Despite the severity, he remained clinically stable, showing no significant bleeding, and retained full alertness. He was swiftly transported to the nearest hospital and then airlifted to Jigme Dorji Wangchuk National Referral Hospital. A CT scan revealed a complex trajectory: the arrow entered through the anterior aspect of the left infratemporal fossa, causing a comminuted blow-in fracture in the left orbit, traversed the maxillary antrum, penetrated the posterior ethmoid sinuses, crossed the midline through the fractured posterior wall of the right maxillary antrum, pierced the right pterygoid bone, and lodged in the right infratemporal fossa. Fragments from the left orbital fracture were observed affecting the left lateral rectus muscle. In the operating room, under general anesthesia, the arrow was successfully removed, and the entrapped lateral rectus muscle was released without significant bleeding. The patient, observed for 3 days, was discharged, and follow-up visits indicated a satisfactory recovery and overall well-being (Figure 5).",
"gender": "Male"
},
{
"age": 46,
"case_id": "PMC11334135_06",
"case_text": "During a friendly archery match, a 46-year-old archery player sustained an arrow injury at the posterior neck. All players were using traditional bows. Fortunately, the victim remained stable with no loss of consciousness or bleeding. A CT scan revealed that the arrow had penetrated the right trapezius muscle and splenius capitis muscles, and the tip was located lateral to the lateral processes of C2 and C3 vertebrae, and medial to the internal carotid artery. Under general anesthesia, the entry site was widened, and meticulous tissue dissection was performed to safely remove the arrow. There was no significant bleeding, and the patient is reported to be doing well after a period of 2 weeks (Figure 6).",
"gender": "Unknown"
}
] |
PMC11334135
|
[
{
"age": 52,
"case_id": "PMC11253126_01",
"case_text": "The patient, a 52-year-old female, was admitted to the hospital due to persistent afternoon fever and fatigue lasting over a month. Her body temperature exhibited fluctuations ranging from 37.1-38.2 during the afternoon and night, accompanied by a cough and a small amount of phlegm. She was admitted to lower-level hospital for treatment. Patient clinical conditions deteriorated, in absence of a clear diagnosis and she was transferred to our hospital. After hospitalization, the whole set before blood transfusion(-), aspartate aminotransferase: 80IU/L (<35IU/L), lactate dehydroase:947IU/L (110-220IU/L), alpha-fetoprotein:7.02ng/ml(<7ng/ml), CA15-3: 27.49U/ml(<24U/ml), serum CA-125: 19.18U/ml (<24U/ml), serum CA19-9: 7.86U/ml(<30U/ml), enolase: 45.38ng/ml(<20.4g/ml), C-reactive protein: 20.80mg/L(<5mg/L), interleukin-6: 47.99pg/ml(0-7pg/ml).Procalcitonin:0.09ng/ml(<0.046ng/ml), pH:7.45, PCO2: 29.5mmHg; PO2: 63mmHg; SO2:93%. Mycoplasma pneumonia antibody: titer 1:40 positive (+), titer 1:80 positive (+), titer 1:160 positive (+), titer 1:320 retained (+/-), Mycoplasma pneumoniae antibody (agglutination) positive (+), CD4 cell subpopulation 50.85%, cryptococcal antigen titer detection: Negative, immunoglobulin GAM(IgG, IgA, IgM), rheumatoid factor (RF), complement C3, C4, B factor: complement C3 0.7690g/L, complement C4 0.1360g/L, VTE score: 1; Sputum and pharyngeal bacteria culture did not show obvious abnormalities. Chest CT showed multiple nodules in both lungs, mainly in the upper lobes of both lungs, which were suspected to be inflammatory nodules. Both lungs had mild inflammation with thickened interlobular septa, which were alleged to be mild pulmonary oedema ( Figure 1A ). A contrast-enhanced CT of the whole abdomen showed multiple mild enhancement nodules and patchy shadows in the renal cortex, which were supposed to be caused by infection. A slightly hypodense nodule with a long diameter of 1.1cm was found in the right upper posterior lobe of the liver, which was mildly enhanced and suspected of inflammation ( Figure 1B ).\nBased on the patient's clinical symptoms, imaging and laboratory results, clinicians first consider infectious lesions. Moxifloxacin was used as an anti-infective therapy after discussion with patients and their families; however, it did not produce satisfactory results. Combined with the follow-up examination results: The results of the antihistone antibody and anti-mitochondrial antibody tests were inconclusive, while the anti-dSDNA and antinuclear antibody assays showed suspicious (+-) results for both; thyroid function: Triiodothyronine was 0.91nmol/L, free triiodothyronine was 1.84pmol/L, thyroxine was 40.30nmol/L, and free thyroxine was 5.67pmol/L. ANCA antibody profile (6 items) showed no significant abnormality. Considering the blood-derived infection, the clinician adjusted the antibiotics to Piperacillin/+minocycline/doxycycline for anti-infective treatment, but the patient still had a recurrent fever. Combined with the detection of Staphylococcus aureus, pneumocystis carinii and human herpes virus type 5(HHV-5) in the patient's alveolar perfusion fluid next-generation sequencing(NGS), the antibiotics were adjusted to meropenem+vancomycin, and the patient did not have fever after treatment with compound sulfamethoxazole against pneumocystis. Consider patients with pneumocystis pneumonia, and give meprednisolone anti-inflammatory therapy. No bacterial growth was found in subsequent blood culture, identification and anaerobic culture. However, the patient still had intermittent low fever and was found to be positive for novel coronavirus COVID-19 during late hospitalization. The attending doctor recommended that the patient undergo a PET-CT examination to identify the cause of the fever further, but the patient refused due to his financial situation and radiation.\nAdditional ultrasonography indicated no abnormal growth of lymph nodes in the neck, supraclavicular region, axilla, abdominal cavity and retroperitoneum. Routine ultrasound examination showed a 1.4x1.1cm hypoechoic nodule under the upper capsule of the right posterior lobe of the liver, with clear boundaries, regular shape and no blood flow signal ( Figure 1C, D ). The patient's liver nodules did not disappear under the treatment of anti-inflammatory drugs. Considering that clarifying the nature of the liver may be a diagnostic breakthrough for the patient, contrast-enhanced ultrasound is recommended to describe the nature and evaluate the path of percutaneous liver puncture to obtain a pathological diagnosis, and the patient's consent is obtained.\nTo achieve the best diagnostic display results, the ultrasound machine was adjusted according to the doctor's habits. A 1.5 ml ultrasound contrast agent SonoVue (Bracco, Milan, Italy) suspension and 5 ml saline were injected successively along the left cubital vein to achieve the purpose of angiography and flushing the tube. The target lesion and liver parenchyma were observed continuously for 5 minutes after the injection. According to the guidelines, the arterial, portal, and delayed phases were defined as 10 to 30 seconds, 30 to 120 seconds, and 121 to 360 seconds after injection, respectively. All results were recorded on the ultrasound system. In the arterial phase, the solid component of the nodule rapidly becomes uniformly hyper-enhanced, and the scope becomes larger after enhancement ( Figure 2A ). Then, the enhancement washout begins in the late arterial phase ( Figure 2B ). The portal and parenchymal phases showed slightly less enhancement ( Figure 2C, D ). No unenhanced region was found in the three stages of the lesion. Unlike the inflammation suggested by enhanced CT diagnosis, CEUS is similar to the \"fast in and fast out\" enhancement model of hepatic malignant tumors. A biopsy was performed to confirm the diagnosis. Ultrasound-guided percutaneous liver biopsy is difficult because of the high location and small size of the tumor. So, the selection of laparoscopic biopsy under general anaesthesia was made to determine the nature and possible origin of the nodules. Intraoperative freezing indicated a potential tumor, leading to the performance of laparoscopic resection on the right hepatic mass. Most postoperative paraffin sections revealed neoplasms originating from the lymphopoietic system. An immunohistochemical study showed that the tumor cells were positive for CD20, CD79a, CD10, Bcl-6, Bcl-2, c-Myc and MUM1 ( Figure 3 ). The positive rate of Ki-67(MIB-1) is about 70%. IgH and IgK gene rearrangement tests were positive, and other results were negative. These findings, together with the morphology, support a diagnosis of NHL, and the subtype was diffuse large B-cell lymphoma that favors a non-germinal center B-cell origin. Combined with ultrasonography and CT examination results, no other lesions were suggested, and primary hepatic lymphoma was considered. Subsequently, the patient was referred to the hematology department for chemotherapy with the DA-EPOCH regimen.",
"gender": "Female"
}
] |
PMC11253126
|
[
{
"age": 70,
"case_id": "PMC10758910_01",
"case_text": "A 70-year-old man presented to his primary care physician with the chief complaint of gross hematuria. A bladder tumor was identified via ultrasonography, and he was referred to our hospital. CT indicated circumferential thickening of the bladder wall and a soft mass shadow contiguous with the bladder extending to the rectum and pelvic wall (Fig. 1a). Moreover, hydronephrosis and renal atrophy on the right side and hydronephrosis on the left side were noted (Fig. 1b).\nTransurethral bladder tumor biopsy confirmed a high-grade urothelial carcinoma with stratified squamous metaplasia, but distant metastases were not observed. The patient refused local treatments, such as surgery and radiotherapy. The patient was in a state of renal failure and underwent dialysis, but there was hope that his renal function would recover. Therefore, gemcitabine and paclitaxel were administered as first-line chemotherapy because these drugs have lower nephrotoxicity than carboplatin, which has a higher nephrotoxic potential. After one cycle, his renal function recovered and the patient no longer required dialysis. At the end of four cycles, the bladder cancer shrank and the left hydronephrosis resolved. However, approximately 4 months later, the tumor progressed and the left hydronephrosis recurred, which led to post-renal renal failure. Thus, left nephrostomy was performed. Subsequently, five courses of secondary pharmacotherapy with pembrolizumab were administered. However, the tumor continued to progress and caused rectal obstruction; thus, a rectal stent was placed. Thereafter, third-line chemotherapy with enfortumab vedotin was initiated. After three courses, the rectal wall invaded by the tumor collapsed, which led to abscess formation between the rectum and the bladder; thus, a transverse colonic stoma was constructed. Seven more courses were administered, and the tumor reduced in size at 11 months. However, nephrostomy-related complications occurred frequently during therapy. Three episodes of acute pyelonephritis necessitated hospitalization. To improve the patient's QOL, a sigmoid colon conduit was performed as a urinary diversion method instead of nephrostomy. Owing to the presence of a prolapsed transverse colonic stoma in the right upper abdomen (Fig. 2a), the plan was to construct a urinary stoma in the left abdomen (Fig. 2b).\nUnder general anesthesia, a midline lower abdominal incision was made. The sigmoid colon was identified and proximally traced to the transition with the descending colon. The left ureter was dorsolaterally identified in that area. The maximum separation of the normal ureter was approximately 6 cm as the retroperitoneal space was covered with inflamed tissue. Next, the sigmoid colon was separated to identify the site for stoma creation. Longer freed sigmoid colon, for example, 20 cm, was needed, but only 10 cm could be isolated because of strong inflammatory adhesion in the lower pelvis. To evaluate the blood flow in the isolated sigmoid colon, ICG fluorescence method was used (Fig. 3). ICG (2.5 mg/mL) was administered intravenously 5 mL. The freed ureter and sigmoid colon were both shorter than expected. Therefore, a submucosal tunnel was not formed; however, a ureteral conduit anastomosis was created and a ureteral stent was placed. As planned, a stoma was created on the left abdomen (Fig. 4). At this time, the nephrostomy was not removed.\nPostoperative complications included intestinal obstruction, ureteral leakage, and wound infection, which resolved spontaneously. Both the ureteral stent and nephrostomy were removed, and the patient was discharged 30 days after the surgery. Outpatient chemotherapy was resumed and continued.",
"gender": "Male"
}
] |
PMC10758910
|
[
{
"age": 50,
"case_id": "PMC10583504_01",
"case_text": "A 50-year-old woman was initially evaluated via telehealth during the COVID-19 pandemic for many years of chronic nasal congestion and occasional foul smell, primarily affecting her left naris. She described intermittent \"dirt\"-like discharge from her left naris with preceding unilateral nasal obstruction and pain, occurring in cycles since early adulthood. She denied any nasal trauma or foreign body placement in her nose, and she had no history of prior sinonasal surgery. Despite prior treatment with steroid and antihistamine sprays, oral antihistamines, and subcutaneous immunotherapy, her symptoms persisted. Nasal saline rinses were similarly ineffective, and she had no additional symptoms suggestive of allergic rhinitis as a contributing etiology. Per her primary care provider's recommendation, she then underwent computed tomography (CT) imaging of the sinuses, which revealed a 1.14 x 1.92 x 2.94 cm bright, high-density lesion filling the inferior aspect of the left nasal cavity effacing the left inferior turbinate (Figure 1). She did not undergo nasal endoscopy at this time, since she lived in a remote, rural area without access to any local otolaryngology specialists, requiring referral to a tertiary otolaryngology practice.\nBased on this imaging, upon referral and via telehealth assessment by our otolaryngology team, the patient was given the diagnosis of intranasal osteoma of the inferior turbinate, and she was planned for an endoscopic resection. At her in-person pre-operative appointment, her symptoms remained unchanged. Rigid nasal endoscopy, however, revealed a calcified concretion occupying the left nasal cavity with adjacent mucosal inflammation. With palpation, the mass was somewhat mobile and independent of the inferior turbinate. It was determined that the lesion was a large rhinolith (Figure 2). Under topical anesthetic in the clinic, the rhinolith was morcellated and removed in its entirety without complication. The patient was counseled to perform daily saline rinses along with intranasal steroid sprays (93 mcg fluticasone). At her follow-up appointment 1 month later, her nasal symptoms had completely resolved, and endoscopy demonstrated a well-healed nasal cavity. Gross pathology of the removed lesion confirmed the diagnosis of rhinolith with calculi, and without associated foreign body.",
"gender": "Female"
}
] |
PMC10583504
|
[
{
"age": 60,
"case_id": "PMC11006969_01",
"case_text": "A 60-year-old female was admitted to the hospital on August 1, 2022, due to 1 week of recurrent fever with progressive dyspnea, with a previous history of type 2 diabetes. Her chest CT showed multiple masses and cavity changes in both lungs (Figure 1A), and the blood culture showed bilateral aerobic bottle growth of Klebsiella pneumonia. A diagnosis of a hematogenous pulmonary abscess was made. The drug sensitivity results of blood culture suggested sensitivity to piperacillin-tazobactam, which was then administered as an anti-infective agent.\nDuring the treatment period, the patient's symptoms gradually improved, and the lesion was partially absorbed on Day 15 upon review of the chest CT (Figure 1B). On Day 26, the patient developed a low fever, with her temperature reaching 37.8 C. Three days later, she began to develop a punctate red rash in the front chest and forearm of both upper limbs with pruritic discomfort (Figure 2). We could not rule out delayed drug allergy after a dermatology consultation, so we discontinued the use of piperacillin-tazobactam. The range of the posterior rash expanded to the face and lower limbs (Figure 2), the occipital and mandibular lymph nodes became enlarged, and the body temperature increased to a maximum of 39.5 C. A repeat chest CT showed continued improvement of the lesion (Figure 1C). Fever-related tests, such as pneumonia pathogen detection, rheumatoid immune complexes, and ferritin, were completed, and all results were negative. The patient had a gradual rise in eosinophils to 1.33*109/L, leukocytes to 18.47*109/L, and lymphocytes to 7.70*109/L, as well as a significant increase in abnormal lymphocytes (7%) accompanied by abnormal liver function, with an ALT level of 114 U/L, AST level of 68 U/L, and a gradual rise in LDH to 500 U/L (Figure 3).\nCombining the clinical manifestations and the laboratory findings, the patient was considered to have DiHS caused by piperacillin-tazobactam, with a RegiSCAR score of 8. The patient was treated with systemic glucocorticoids and oral anti-allergy drugs. On September 8, the fever stopped, the rash gradually subsided, and the relevant laboratory indices decreased upon review. Three months later, we followed up on the patient's discharge by phone, and she said that she had not experienced any further discomfort after discharge and that her chest CT and laboratory test indexes had returned to normal.",
"gender": "Female"
}
] |
PMC11006969
|
[
{
"age": 79,
"case_id": "PMC10902871_01",
"case_text": "We present a case of fistula formation between the left ureter and the aorta at the level of the aortic bifurcation. Our patient, a 79 years old man with a history of total cystectomy for malignancy one year ago and diversion of both ureters to a single site, had both ureters catheterized with a J-stent and the left one was crossing over the aorta at the level of the aortic bifurcation. He had been admitted previously several times for intermittent hematuria and had been treated conservatively, and four months ago on his last admission for a more severe episode of hematuria, the diagnosis of aorto-ureteric fistula (AUF) had been set. He was then referred to the interventional radiology department, where they managed to seal the communication. Their initial approach was coil embolisation and deployment of bare-metal stents, choosing to avoid placement of graft material because of the risk of infection.\nHe was admitted to our hospital four months later in a state of hypovolemic shock and massive hematuria (Ht:21.4%, Hb:6,7 g/dL), with no attending person to provide information on his medical history. The diagnosis, in a lack of information on his medical records, was set after diagnostic imaging with a whole-body computed tomography angiography (CTA) scan (Figures 1-4).\nThe patient was found to have regression on his previous condition, because of endoleak formation between the ureter and the materials deployed in the previous attempt to seal the communication. Our vascular team was consulted to assist doctors in the urology department and provide emergent treatment. Without any information on his medical history, it seemed to us that he had been treated with an endovascular aneurysm repair (EVAR) for aorto-ureteric communication and now he was experiencing a regression on the basis of endoleak formation. We first attempted to treat him as a type I endoleak with a proximal extension, and upon failure, with distal extensions, but finally we had to 'build' the entire previous operation from the inside to achieve control of the endoleak (Figure 5).\nFinally, a vascular plug was placed on the left common iliac artery (LCIA) limb in an aorto-unilateral fashion, and a femoral-femoral bypass was conducted (Figure 6). This was done in an attempt to divert blood flow away from the site of communication and maximise the time to re-intervention (the graft will become contaminated eventually, and will have to be extracted in the future). The decision for this was based on the surgeon's preference and not guided by evidence, and it didn't compromise the final result.\nThe patient regained hemodynamic stability, and was transferred to the urologic ward. The J-stents were exchanged with new ones, and he remained hemodynamically stable during the remaining course of his treatment.",
"gender": "Male"
}
] |
PMC10902871
|
[
{
"age": 56,
"case_id": "PMC10757922_01",
"case_text": "A 56-year-old male patient with a history of deep vein thrombosis (DVT) and chronic headaches, but no history of head trauma, surgery, or other conditions such as intracranial infection or hypertension, was admitted to the hospital due to dizziness, fatigue, and numbness. Neurological examination revealed clear consciousness and slightly weakened limb strength. Blood tests, including complete blood count and coagulation index, were completely normal (Table 1, Supplementary material). Ophthalmological examination revealed papilledema (Figure 1, Supplementary material). Brain CT scans showed multiple scattered hemorrhagic foci in both cerebral hemispheres. Digital subtraction angiography (DSA) of the cerebral vessels suggested an arteriovenous shunt around the torcular. The shunt was supplied by bilateral occipital arteries (OA), the left middle meningeal artery (MMA) occipital branch, and the vertebral artery (VA) meningeal branch, and drained into the superior sagittal sinus (SSS) and cortical veins (CV). No cerebral sinus venous thrombosis (CVST), but a venous variation in the left transverse sinus (TS) was found, impeding its normal venous drainage. The patient became somnolent the next day, with increased hemorrhage in the left frontal and parietal lobe. Upon further examination, it was observed that the cerebral hemorrhage had significantly intensified compared to the time of admission (Figure 1). An emergency plan was made to embolize the shunt arterially. Informed consent was obtained before treatment.\nUnder local anesthesia, a 6-Fr Envoy guiding catheter (Cordis) was placed in the internal carotid artery (ICA), and a Microcatheter (Hyperform 4 x 7 mm, America MTI/EV3) was navigated into the left MMA occipital branch and left OA branches. ONYX (Medtronic, Irvine, CA, United States.) glue was used for embolization of the dural arteriovenous fistula. After several attempts, the final angiography showed no branches supplying the fistula from the left internal and external carotid arteries, but a small amount of supply from the right OA remained, suggesting a slight residual shunt (Figure 2).\nPostoperative CT scanning revealed a high-density area indicating a cast of ONYX glue in the SSS. In the following week, intracranial hematoma continued to progress but eventually absorbed. Follow-up DSA 3 months after surgery demonstrated no recurrence of the dAVF and the varix in the bilateral cerebral hemispheres was markedly reduced. A one-year postoperative MR review indicated no recurrence of dAVF, although thrombosis was observed in the SSS (Figure 3), the patient's condition and vision improved, with no significant neurological abnormalities.",
"gender": "Male"
}
] |
PMC10757922
|
[
{
"age": 81,
"case_id": "PMC10687792_01",
"case_text": "An 81-year-old man was found dead at home and was submitted to post-mortem examination at the local coroner. The patient was from Southern Brazil in Sao Paulo state. He was a retired lawyer, married, but living alone. No information about previous episodes of dysentery, medical therapy or travel history could be obtained.\nThe post-mortem examination disclosed a malnourished patient weighing 50 Kg and measuring 165 cm. At the opening of the abdominal cavity, there was 1,400 mL of serosanguineous ascites. The gross examination of the gastrointestinal tract revealed the involvement of the entire colon by many necrotizing lesions and ulcers, sometimes with a flask-shaped appearance extending from the cecum to the rectum (Figure 1).\nAn intestinal perforation was observed in the right colon together with local acute suppurative peritonitis. Histologically, the ulcers were deep, extending into the submucosa and undermining borders. The lesions comprised necrotic material with prominent nuclear debris and few inflammatory cells. Amebic trophozoites were found at the ulcers' edges, together with mild mononuclear inflammation (Figure 2A). Amebic trophozoites had a foamy cytoplasm with round eccentric nuclei resembling large macrophages. Red blood cells were phagocytized by the trophozoites, which were stained by Periodic Acid-Schiff (PAS) (Figure 2B). There was no hepatic, pulmonary, or other extra-intestinal involvement. Death was attributed to sepsis from the intestinal lesions.",
"gender": "Male"
}
] |
PMC10687792
|
[
{
"age": 15,
"case_id": "PMC10949541_01",
"case_text": "A 15-year-old male deceased donor renal transplant recipient was admitted with 2 months of abdominal pain, diarrhea, and an 8 kg weight loss. His history included end-stage renal disease secondary to focal segmental glomerulosclerosis (FSGS) necessitating transplant 1.5 years prior to admission (PTA). He was at intermediate risk (Donor+/Recipient+) for cytomegalovirus and Epstein-Barr virus. His induction therapy was antithymocyte globulin and methylprednisolone and his maintenance immunosuppression included tacrolimus (goal trough 4-6 ng/mL) and 500 mg (376 mg/m2/dose) of mycophenolate twice daily. His transplant course was complicated by delayed graft function and recurrence of FSGS requiring high-dose steroids, plasmapheresis, and rituximab (last dose 2 months PTA); he continued to receive pulse dosing methylprednisolone every 2 weeks and 20 mg of prednisone daily at the time of admission. Diarrhea at presentation was 6-12 episodes of watery, bloody stools per day. Abdominal pain was 7-9/10 and central and left-sided; the pain did not radiate and was worse with eating and at night.\nHe had recurrent diarrhea for 11 months PTA for which he had four stool samples sent for infectious evaluation. The stool was persistently positive for norovirus and enteroaggregative Escherichia coli (E. coli; EAEC) starting at 11- and 7-month PTA, respectively (Figure 1). On admission, the patient was ill-appearing with tachycardia (heart rate 116 bpm). He had mild abdominal distension and diffuse tenderness without rebound or guarding. His hemoglobin was low at 9.5 g/dL and his white blood cell count was normal at 7 uL with 82% (32%-67%) neutrophils. Electrolytes, liver enzymes, and lipase were within normal limits. Creatinine was baseline at 0.99 mg/dL. Cytomegalovirus, enterovirus, Epstein- Barr virus, and herpes simplex virus were not detected by polymerase chain reaction (PCR) in blood. The gastrointestinal pathogen panel (Biofire FilmArray Gastrointestinal Panel by BioFire Diagnostics, Salt Lake City, UT, USA) had been obtained 1-week PTA and was therefore not repeated. Urine and blood cultures were positive for E. coli (blood isolate was PCR positive for EAEC). An abdominal computed tomography (CT) was obtained which showed very little intraluminal content in the intestines and fluid in the right colon. He underwent a colonoscopy on hospital day 2 which showed diffuse sessile polyposis from the sigmoid colon to the rectum (Figure 2). Histopathology from colonic biopsies revealed diffuse malakoplakia as evidenced by lamina propria expansion due to the proliferation of histiocytes containing laminated mineralized concretions called Michaelis-Gutman bodies (Figure 2). Biopsies from the small intestine, including the terminal ileum, did not show malakoplakia. Colonic tissue cultures were positive for EAEC. Notably, a viral culture was not performed on the colonic tissue to rule out possible involvement of norovirus.\nHe received 14 days of cefepime for bacteremia and urinary tract infection and bethanecol and trimethoprim-sulfamethoxazole twice daily for malakoplakia therapy which he continued at discharge. No changes were made to his immunosuppression regimen. He was discharged home on day 17 with a resolution of symptoms. Follow-up colonoscopy 2 months after discharge showed resolution of malakoplakia. Of note, aside from the CT scan, no further assessment was done of his genitourinary tract at this time as he did not have any urinary symptoms.\nSymptoms recurred 9 months after initial discharge requiring re-admission. Repeat esophagogastroduodenoscopy and colonoscopy showed gross evidence of malakoplakia in the terminal ileum and colon. Histopathology confirmed recurrence involving the terminal ileum to the rectosigmoid colon despite adherence to therapies. Notably, the small intestine remained negative for malakoplakia. Tissue cultures grew multidrug-resistant E. coli, which was now resistant to trimethoprim-sulfamethoxazole. He was transitioned from trimethoprim-sulfamethoxazole, which he had been on for 9 months, to intravenous cefepime and oral gentamicin (based on susceptibilities). After 6 weeks of therapy, a repeat colonoscopy showed mild nodularity. Histopathology revealed near resolution in the ascending, descending, and rectosigmoid colon with minimal malakoplakia. However, there remained diffuse malakoplakia in the transverse colon. Tissue cultures were negative. He was discharged on oral gentamicin after a 2.5-month admission.\nTwo months after discharge, repeat esophagogastroduodenoscopy and colonoscopy were grossly normal. Histopathology confirmed the resolution of malakoplakia. After 1.5 years of oral gentamicin, therapy was discontinued without the return of symptoms for 1.5 years. His antibiotic duration was ultimately decided by his degree of immunosuppression. Unfortunately, our patient lost his graft to recurrent FSGS 3.5 years post-transplant and is now receiving hemodialysis. Once his graft was lost and his immunosuppression was decreased, we felt comfortable stopping his malakoplakia suppression therapy.",
"gender": "Male"
}
] |
PMC10949541
|
[
{
"age": 19,
"case_id": "PMC10859110_01",
"case_text": "A 19-year-old male weighing 116 kg was admitted to a referring hospital with pneumonia due to SARS-CoV-2 on a heated high-flow nasal cannula. He received baricitinib and dexamethasone for COVID-19 treatment. He subsequently developed worsening hypoxemic respiratory failure and required intubation on hospital day 6. He was referred to our facility on hospital day 15 for extracorporeal membrane oxygenation (ECMO) support. MSSA was cultured from a mini-bronchoalveolar lavage (mini-BAL) obtained immediately prior to ECMO cannulation, and all blood cultures were negative. A chest X-ray on the day of ECMO cannulation reveals bilateral pulmonary infiltrates (Figure 1). Pertinent lab values at the time the culture was obtained include the following: CRP 195 mg/L, WBC 8.31 K/uL, and procalcitonin 26.68 ng/mL. He was initially treated with cefepime and vancomycin until cultures resulted in MSSA and subsequently switched to nafcillin. He received a tracheostomy while on ECMO and had a 48.5-day ECMO run. He received intensive inpatient rehab and was decannulated from his tracheostomy prior to hospital discharge.\nCase 2",
"gender": "Male"
},
{
"age": 16,
"case_id": "PMC10859110_02",
"case_text": "A 16-year-old male weighing 118 kg was admitted with pneumonia due to SARS-CoV-2 on a heated high-flow nasal cannula. He received remdesivir, tociluzimab, and dexamethasone for COVID-19 treatment. He required intubation on hospital day one for progressive hypoxemia. MSSA was cultured from a mini-BAL obtained immediately after endotracheal intubation. The chest X-ray at the time of intubation showed worsening bilateral infiltrates (Figure 2). Pertinent lab values at the time the culture was obtained include the following: WBC count 4.44 K/uL, CRP 36 mg/L, and procalcitonin 0.07 ng/ML. He was initially treated with ceftriaxone until cultures resulted in MSSA and subsequently switched to nafcillin. His respiratory failure progressed, and he developed acute respiratory distress syndrome (ARDS), requiring venovenous (V-V) ECMO 14 days after intubation. He subsequently suffered a cardiac arrest and was converted to venoarteriovenous (VA-V) ECMO. He remained on ECMO support for 25 days and had a post-ICU complication of pulmonary emboli, despite prophylactic enoxaparin. He still struggles with exercise-induced shortness of breath and follows with pulmonology closely.\nCase 3",
"gender": "Male"
},
{
"age": 17,
"case_id": "PMC10859110_03",
"case_text": "A 17-year-old male weighing 107 kg was admitted for hyperosmolar hyperglycemic syndrome, presumed to be secondary to an acute SARS-CoV-2 infection. He had no respiratory symptoms upon presentation but quickly developed an altered mental status, requiring endotracheal intubation on hospital day one. MSSA was cultured from a mini-BAL obtained immediately after intubation. The chest x-ray showed diffuse opacification of each hemithorax (Figure 3). Pertinent lab values at the time the culture was obtained include the following: WBC 12.52 K/uL and CRP 99 mg/L. He was treated with ceftriaxone, vancomycin, and metronidazole due to the severity of his illness. After intubation, he developed progressive hypotension and shock, requiring multiple vasopressors and worsening hypoxemia. He was placed on V-V ECMO support on hospital day 2 and converted to VA-V ECMO later that same day after suffering a cardiac arrest. His COVID-19 was treated with tociluzimab and dexamethasone, starting on hospital day two. He required 11 days of ECMO support. He received intensive inpatient rehabilitation and still receives outpatient therapy for his critical illness, neuropathy.\nCase 4",
"gender": "Male"
},
{
"age": 16,
"case_id": "PMC10859110_04",
"case_text": "A 16-year-old male with trisomy 21 weighing 54 kg was admitted with pneumonia due to SARS-CoV-2 on a heated high-flow nasal cannula but was quickly transitioned to non-invasive mechanical ventilation one hour after admission. He received dexamethasone and remdesivir for COVID-19. He remained on non-invasive mechanical ventilation until hospital day 9, when his hypoxemia worsened and he required endotracheal intubation. Immediately after intubation, he suffered a cardiac arrest and was unable to be resuscitated. A blood culture obtained approximately 18 hours prior to intubation was positive for MSSA.\nCase 5",
"gender": "Male"
},
{
"age": 19,
"case_id": "PMC10859110_05",
"case_text": "A 19-year-old male weighing 114 kg was transferred to our facility on hospital day 2 for worsening pneumonia due to SARS-CoV-2 on a heated high-flow nasal cannula. Initial chest CT obtained at the referring facility showed diffuse groundless and consolidate changes throughout the lungs consistent with known COVID-19 pneumonia. He quickly escalated to non-invasive mechanical ventilation upon admission and subsequently required endotracheal intubation on hospital day 7 for ARDS. He was persistently hypoxemic after intubation, so he was placed on ECMO support. Chest X-rays at that time still showed bilateral pulmonary infiltrates as well as bilateral small apical pneumothoraces and pneumomediastinum (Figure 4). He received dexamethasone and tocilizumab for the treatment of COVID-19. A mini-BAL culture obtained 24 hours after intubation was positive for MSSA, along with a blood culture obtained 72 hours after intubation. Pertinent lab values at the time the culture was obtained include the following: WBC 15.68 K/uL, CRP 11 mg/L, and procalcitonin 0.08 ng/mL. He was initially treated with clindamycin and ceftriaxone but subsequently switched to nafcillin for MSSA. He remained on V-V ECMO for 13 days and was discharged home with a low oxygen requirement. He was lost to follow-up post-discharge.",
"gender": "Male"
}
] |
PMC10859110
|
[
{
"age": 71,
"case_id": "PMC10741809_01",
"case_text": "A 71-year-old male with a history of cardioverter-defibrillator placement and atrial fibrillation on apixaban presented to our comprehensive stroke center upon awakening with left-sided weakness. Examination on arrival demonstrated mild left hemiparesis and a National Institutes of Health Stroke Scale (NIHSS) score of 4. Computed tomography (CT) angiography demonstrated total occlusion of the right supraclinoid segment of the internal carotid artery (Figure 1). Distal to the occlusion, complete filling of the anterior cerebral artery and middle cerebral artery territories suggested significant collateralization, speculatively via the anterior communicating artery complex (Figure 1). While the right A1, anterior communicating artery, and the left A1-A2 junction appeared to opacify with contrast, the tortuous left A1-A2 junction was difficult to definitively evaluate. CT perfusion demonstrated a large right hemispheric penumbra with preserved blood volume (Figure 2).\nThe patient was not a candidate for intravenous tissue plasminogen activator secondary to therapeutic anticoagulation and recent upper gastrointestinal bleeding. Following imaging, the patient acutely deteriorated, developing dense left hemiplegia, severe dysarthria, and a fixed right gaze (NIHSS score of 25), consistent with right hemispheric infarct. Neurosurgery was consulted for emergent EVT.\nTransfemoral access was gained, and the right internal carotid artery was selected with a 5 French (F) vertebral catheter (Cook Medical) through a 6F-80 shuttle sheath (Cook Medical). Digital subtraction angiography demonstrated a chronic intracranial internal carotid artery occlusion distal to the origin of the right anterior choroidal artery. The late arterial phase showed right ipsilateral leptomeningeal collateralization from the posterior cerebral artery to the anterior cerebral artery and middle cerebral artery posterior division (Figure 3).\nGiven the patient's acute neurologic deterioration, the left internal carotid artery was selected to confirm etiology, demonstrating large vessel occlusion of the left A1-A2 junction by acute thrombus that was not clearly seen on CT angiography (Figure 4). Superselective catheterization of the left A2 past the thrombus was performed with a Headway 0.021-in microcatheter (MicroVention, Inc) and Synchro standard 0.014-in microwire (Stryker Corporation), and EVT was undertaken via 4 x 40 Solitaire stent (Medtronic) deployment across the A1-A2 junction. Following 5 minutes of radial incorporation, the device was withdrawn under aspiration through a SOFIA 6F-125 catheter (MicroVention, Inc). Postthrombectomy injection confirmed total recanalization, thrombolysis in cerebral infarction score of 3, and patency of the bilateral middle cerebral artery and bilateral anterior cerebral artery territories (Figure 4). Noncontrast head CT at 24 hours displayed no evidence of infarct, and the patient rapidly improved during hospitalization. The patient was discharged to an inpatient rehabilitation facility on postoperative day 7 with an NIHSS score of zero.",
"gender": "Male"
}
] |
PMC10741809
|
[
{
"age": 79,
"case_id": "PMC11260612_01",
"case_text": "A 79-year-old male presented with left chest pain for over 10 days, accompanied by a cough and phlegm for over 7 months. The patient developed a mild cough and phlegm without a clear cause, and recently blood-tinged sputum, which was dark red and occasionally bright red, averaging about 10ml per day, was noticed. Imaging from another hospital suggested a nodule in the left upper lobe. The patient's PET-CT in August, 2021 showed increased metabolism of a nodule in the apical posterior segment of the left upper lobe, the nodule measures approximately 12x10 mm in size, it has an irregular shape, with clear margins. The standardized uptake value of the nodule is approximately 6.7 ( Figure 1 ), indicative of a malignancy.\nUpon admission, the patient was in good general condition with temperature at 36 C, heart rate at 80 beats/min, and respiratory rate at 20 breaths/min, he walked into the hospital, and his blood pressure was 136/88mmHg after taking medication for hypertension. The patient has an over 40 years history of smoking, about one pack per day, and has quit for over 15 years; a 50-year history of alcohol consumption, with 2 Liang (approximately 100ml) of white liquor daily, and has quit for 7 months. Pulmonary Function earlier suggested mild mixed restrictive and obstructive pulmonary ventilation disorder and small airway obstruction.\nChest CT of the patient on November 18, 2021 showed a left upper lung nodule measuring approximately 18x13mm ( Figures 2A-D ), the nodule has an irregular shape with a lobulated appearance. The margins are characterized by speculated protrusions and multiple long spicules. Vascular structures appear to traverse within the nodule. A contrast-enhanced CT 10 days later detected an obvious increase in the size of the nodule, measuring about 23x20mm, with clear boundaries and moderate uniform enhancement, and multiple patchy ground-glass opacity around the lesion ( Figures 2E-H ). And the volume of the nodule increased from 546 cubic millimeters to 2024 cubic millimeters within 10 days.\nThe rapid volume increase in such a short period with surrounding ground-glass opacity of the left upper lung nodule did not match the growth feature of common malignant tumors in the lungs, and preoperative imaging by a chest radiologist with over 30 years of diagnosing experience considered non-neoplastic lesions. The patient underwent a thoracoscopic resection of the lesion within the left upper lobe's inherent segment, employing a complex pulmonary segmentectomy of the apical-posterior segment (S1 + 2). The resected lung segment volume was 11x7.5x2cm, the bronchial diameter was 0.8cm, and a nodule was found 1cm under the pleura, 2cm from the bronchial cut end. The cut surface was gray-brown and crumbly, with a nodule diameter of 2cm. No involvement of the bronchial cut end was seen, and a lymph node was found next to the bronchus. Intraoperative pathology showed a large area of necrosis and hemorrhage in the resected lung tissue, surrounded by a small number of atypical cells, and tuberculosis was considered during the operation Figure 3 \nPostoperative immunohistochemistry after routine pathological sampling suggested atypical large cells and giant cells proliferating around the extensive lesion, distributed in small patches, clusters, or glandular distribution. Immunohistochemistry results of atypical cells were CK (+), EMA (+), Vim (+), CK7 (+), CK5/6 (minority+), P63 (minority +), P40 (minority +), NapsinA (minority +), TTF-1 (minority +), CD56 (-), CgA (-), Syn (-), CD68 (-), LCA (-). PDL1 (about 60% positive), Ki-67 (about 60% positive) ( Figure 4 ). The final pathology diagnosis was sarcomatoid carcinoma with extensive necrosis (giant cell carcinoma with necrosis), and the tumor's pathological stage is classified as T1N0M0, genetic testing results revealed a MET gene mutation in the patient. After discharge, the patient was given an oral Crizotinib capsule for targeted therapy. The patient underwent follow-up at 3-month interval in the first 18 months during the treatment, and he experienced any serious complications. Currently, the patient regularly visits our outpatient clinic for follow-up every 3 to 6 months, and no signs of recurrence or metastasis have been detected. At the last follow-up, he was in good general condition, and he took daily exercises for half an hour.",
"gender": "Male"
}
] |
PMC11260612
|
[
{
"age": 12,
"case_id": "PMC11446895_01",
"case_text": "A 12-year-old girl presented to our department after one severe episode of anaphylaxis. The severe episode occurred after a 1 h run. One hour before the initiation of the running she had eaten an apple and wheat bread. Her symptoms included itching, redness, generalized urticaria, facial angioedema, wheezing, and hypotension. She was successfully treated with intramuscular epinephrine (0.3 mg) and thereafter with intravenous methylprednisolone and antihistamine together with inhalation of a short-acting anticholinergic and beta2-sympathomimetic agonist. Laboratory tests, including complete blood count, C-reactive protein, renal and liver function, were normal. Her medical history included allergic rhinitis since the age of 9 years old, recurrent chest distress, shortness of breath, and wheezing during exercise. The patient's mother had a history of allergic rhinitis. She was referred to the allergy department, where total IgE and specific IgE tests were conducted using ImmunoCAP (Thermo Fisher Scientific, Sweden). Results indicated elevated total IgE levels (506 kU/L) and sensitization to weed pollens, particularly mugwort (76.1 kUA/L), and Alternaria alternata (10.8 kUA/L). In addition, positive specific IgE was observed for common foods such as soybean, egg, milk, wheat, and peanut. Furthermore, LTP components from mugwort Art v 3 (49.9 kUA/L), wheat Tri a 14 (2.03 kUA/L), and peach Pru p 3 (11.5 kUA/L) were identified; testing for omega-5 gliadin was negative (Table 1). Pulmonary function tests were normal but the fractional exhaled nitric oxide (FENO) level was elevated (48 ppb). Skin prick tests were positive for apple (grade 2+) and maize flour (grade 4+) and negative for mango, pineapple, pear, strawberry, litchi, orange, peach, watermelon, pitaya, melon, cherry, rice, and wheat.\nAlthough pulmonary function was normal, because of the recurrent wheezing during exercise and the elevated FENO level, the patient was initially prescribed budesonide-formoterol (80/4.5 mug) twice daily and advised to avoid consuming apple and maize before running. In addition, she was instructed to stop exercising immediately if she experienced flushing, itching, and hives. Despite following these recommendations, she suffered a second episode of anaphylaxis 8 weeks later (November 2020) after running for 30 min. She had eaten a full meal 1 h before exercise but could not recall what foods she had consumed. Her symptoms included generalized hives, itching, and shortness of breath. She was taken to the emergency room, where she received oral steroids (30 mg prednisone). Following this incident, she was prescribed budesonide-formoterol (80/4.5 mug) and cetirizine (10 mg), to be taken before exercise. In addition, she was advised to refrain from eating all foods 4 h before physical activity. Diet and activity were very difficult for this young junior high school student. Ten months later (September 2021), she continued to have breakthrough anaphylaxis reactions after routine running in gym class. In November 2021, she experienced an episode characterized by severe generalized hives during gym class. Before this episode, she had eaten several foods for lunch but could not recall the specific items she consumed. Given her refractory symptoms, she was referred to the dermatology department. The underlying Th2 inflammation mechanisms of EIA suggest that dupilumab therapy could be beneficial for this patient. With the consent of the patient and her parents, she was advised to initiate dupilumab therapy. The initial dose was 600 mg, followed by 300 mg every 2 weeks for a total of six doses from November 2021 to February 2022. However, even while undergoing dupilumab therapy, she suffered two anaphylactic episodes after running 800-1,000 m. The first episode occurred approximately 4 weeks into treatment, and the second episode occurred approximately 8 weeks into treatment (Figure 1). Owing to the worsening symptoms, despite preventive measures, the lack of response to dupilumab therapy, and the patient's desire to resume normal activities, her mother wanted to try an alternative treatment. There were reports in the literature suggesting the effectiveness of omalizumab in treating EIA; however, this was off-label use. With the patient's consent, a trial of omalizumab was initiated. The patient was initiated on omalizumab injections of 300 mg every 4 weeks starting in March 2022 (Figure 1). The dosage was determined based on the patient's weight and total IgE levels, in accordance with the protocol used for asthma treatment. During the initial month of omalizumab therapy, the patient was advised to discontinue running. After 2 months of omalizumab therapy, the patient reported a significant improvement. She began engaging in physical exercise three times a week and experienced a mild episode of urticaria. There were no episodes of anaphylaxis or visits to the emergency room. By the fourth month of omalizumab treatment, she was able to consume food normally even just before exercising and had returned to her full activity level without any restrictions. Throughout the follow-up period, we monitored the total IgE and specific IgE levels, as shown in Table 1 and Supplementary Figure S1. The FENO level and variables of pulmonary function testing were also monitored during the follow-up period (Supplementary Figure S2).",
"gender": "Female"
}
] |
PMC11446895
|
[
{
"age": 29,
"case_id": "PMC10615574_01",
"case_text": "A 29-year-old man, single and without notable medical history, has been under psychiatric care since 2013 for schizophrenia. His first acute psychotic episode was characterized by a sudden onset of motor instability, agitation, insomnia, as well as persecutory, mystical, and referential delusions, along with auditory hallucinations. He was treated with a daily dose of 12 mg of haloperidol and 300 mg of chlorpromazine. During his first exposure to neuroleptics, he developed an acute dystonic reaction, which was successfully treated with 5 mg of trihexyphenidyl per day. After approximately 20 days of hospitalization, the patient experienced significant improvement and returned to his previous state of health. He was discharged from the hospital and began outpatient follow-up. Unfortunately, after about 7 months of treatment, the patient decided to discontinue his medication on his own and stopped attending follow-up appointments.\nIn 2014, 5 months after discontinuing his treatment, the patient experienced his second psychotic episode, leading to a second 1-month hospitalization, followed by subsequent improvement. However, after his discharge, he did not consistently adhere to his outpatient follow-up or treatment regimen. Nevertheless, the patient remained stable until 2016 when he began displaying early signs of a relapse, including insomnia, irritability, and persecutory thoughts. Additionally, he initiated tobacco and cannabis use.\nGiven this situation and due to the patient's poor treatment adherence, he was switched to haloperidol decanoate, a long-acting form of haloperidol, at a monthly dose of 150 mg. The option of using an atypical long-acting antipsychotic was not feasible due to its high cost and the patient's average socioeconomic status. The patient responded positively to this new treatment approach, experiencing a significant reduction in his psychotic symptoms. He continued to receive monthly injections of the long-acting treatment and was followed-up on an outpatient basis every 3 months.\nOne year after starting haloperidol decanoate, he gradually developed TD, characterized by brief, rapid, unpredictable, and variable-amplitude choreoathetoid movements. Clinical examination revealed facial grimaces and a combination of purposeless and repetitive movements affecting the upper and lower limbs, as well as the trunk. These manifestations prompted the patient's hospitalization in our psychiatric department to change his treatment to olanzapine. Psychiatrically, the patient was stable and did not exhibit overt delusions or perceptual disturbances. However, he displayed mild signs of depression related to his disabling motor symptoms. We initiated olanzapine at an initial dose of 10 mg/day, gradually increased to 20 mg/day.\nHowever, despite this change in treatment, the dyskinesias persisted. The patient was then referred to a neurology specialist who conducted investigations such as a brain MRI, autoimmune screening, genetic testing, and thyroid function evaluation to rule out other causes of abnormal movements. The neurologist decided to initiate a treatment regimen for the patient, including 3 mg/day of alprazolam, 300 mg/day of amantadine, and up to 30 mg/day of trihexyphenidyl. Despite a slight improvement in the dyskinesias, the social and professional impact was significant. Therefore, the neurologist recommended tetrabenazine as a treatment option for the dyskinesias. Unfortunately, due to its unavailability in Morocco, the patient was unable to obtain this medication abroad. As a result, the patient maintained treatment with 20 mg/day of olanzapine and 300 mg/day of amantadine, with intermittent use of benzodiazepines. Trihexyphenidyl treatment was discontinued after approximately 1 month of prescription. The patient continued his follow-up in psychiatric and neurological consultations. On the psychiatric front, he experienced a schizophrenic relapse in 2018, characterized by delusional ideas and auditory hallucinations, following a reduction in his olanzapine dose to 15 mg/day by his treating physician. This relapse was managed on an outpatient basis, with treatment adjustments, including an increase in the olanzapine dose to 20 mg/day and the addition of a sedative neuroleptic, chlorpromazine, at a dose of 150 mg/day. Chlorpromazine was discontinued after improvement, which occurred after 2 months.\nIn February 2019, after nearly 2 years of treatment that included olanzapine at a dosage of 20 mg/day, amantadine at a dosage of 300 mg/day, and intermittent use of benzodiazepines characterized by periods of gradual discontinuation, resumption, new discontinuations, and intermittent use throughout the 2-year period, the patient did not observe significant improvement in his dyskinesias. Faced with this frustrating situation, he decided to discontinue all other medications and continue only with olanzapine at a daily dose of 20 mg. Two years later, in March 2021, the patient spontaneously and gradually started decreasing his dyskinesias, without any modifications in treatment or additional medical intervention. Over the following 6 months, the patient's dyskinesias completely disappeared.\nOn the psychiatric front, since the patient had been a good adherent to his olanzapine treatment at a dose of 20 mg/day, he remained stable and did not experience a relapse during these 2 years.",
"gender": "Male"
}
] |
PMC10615574
|
[
{
"age": 62,
"case_id": "PMC10559485_01",
"case_text": "A 62-year-old male with a history of colorectal cancer surgery and hyperlipidemia presented to our hospital with sudden-onset pain in the back of the neck. On arrival, the patient's Glasgow Coma Scale was E3V5M6, with no focal neurologic deficits.\nBased on imaging tests, the patient was diagnosed with subarachnoid hemorrhage due to a craniocervical junction arteriovenous fistula and underwent direct surgery to occlude the fistula. VPS was performed 1 month later because the patient developed secondary hydrocephalus. The postoperative abdominal X-ray confirmed that the shunt catheter was placed in the peritoneal cavity [Figure 1a]. The symptoms of hydrocephalus improved and the patient was discharged to his home through the rehabilitation hospital.\nSix months after VPS, an abdominal computed tomography was performed as a follow-up of colorectal cancer surgery and showed that the peritoneal catheter had migrated to the thoracic cavity [Figures 1b and c]. The patient did not experience subjective symptoms, but a small amount of pleural effusion was observed [Figure 1c]. A 3D image of the preoperative shunt catheter and bone structure was created. It was confirmed that the shunt catheter had passed over the clavicle before penetrating the thoracic wall through the intercostal space between ribs 1 and 2 and entering the thoracic cavity [Figures 1d and e]. Because the shunt catheter had passed through the thoracic cavity when inserted into the peritoneal cavity during the initial surgical procedure, it probably migrated to the thoracic cavity due to spontaneous withdrawal.\nThe presence of pleural effusion and associated atelectasis led us to perform reconstructive surgery. We secured the peritoneal catheter, which had migrated to the thoracic cavity, 1 cm caudal to the clavicle. We removed the peritoneal catheter which entered the thoracic cavity without resistance. After removal, we tunneled the peritoneal catheter subcutaneously over the ribs. We, then, reopened the abdominal incision from the previous surgery, opened the anterior/posterior sheath of the rectus abdominis and peritoneum, and verified the intestinal tract within the peritoneal cavity before placing the catheter.",
"gender": "Male"
}
] |
PMC10559485
|
[
{
"age": 0,
"case_id": "PMC10547496_01",
"case_text": "Ivacaftor is the first CFTR potentiator approved for patients >=3 months old with at least one gating variation e.g., G551D class III, which is present in around 4% of the CF patient population. In 2023, after the completion of a phase 3 ARRIVAL clinical trial that evaluated ivacaftor use in infants under 24 months old, the United States Food and Drug Administration expanded the use of ivacaftor for infants up to 1 month old that are carrying at least one mutation responsive to ivacaftor. The ARRIVAL study revealed that the pharmacokinetics of ivacaftor in children aged 12-24 months were similar in distribution to older children and adults, and the adverse events were unlikely to be associated with ivacaftor use. In addition, the observed clinical efficacy through biomarkers of CFTR function overall supports the use of ivacaftor to slow or prevent CF progression in newborns and young patients.",
"gender": "Unknown"
},
{
"age": 1,
"case_id": "PMC10547496_02",
"case_text": "Since ivacaftor is limited to mostly class III and rarer mutations, correctors that target the F508del mutation which would be available for 90% of CF patients were developed to benefit the wider population. Lumacaftor-ivacaftor combination as a corrector-potentiator combination acts to first rescue the defective processing of CFTR protein in the endoplasmic reticulum and then enhance the gating activity of CFTR proteins with F508del mutations. In vitro studies highlighted the combination effect of lumacaftor-ivacaftor inducing greater CFTR-mediated chloride transport than lumacaftor alone, and this similar observation of higher clinical benefit compared to ivacaftor alone was replicated in studies on homozygous F508del patients. Based on the successful phase 3 study in 2021, FDA has approved the use of lumacaftor-ivacaftor for children over 1 year old with the homozygous F508del mutation. Similarly, tezacaftor-ivacaftor is a synergistic corrector-potentiator combination therapy that is available for children aged 6 years old who have at least one mutation responsive to therapy. Compared to the lumacaftor-ivacaftor combination, tezacaftor-ivacaftor does not interact with CYP3A4 enzymes which reduces potential drug interaction and metabolising issues but maintains its clinical efficacy.",
"gender": "Unknown"
},
{
"age": 12,
"case_id": "PMC10547496_03",
"case_text": "In 2019 (US) and 2021 (Australia), the first triple combination therapy involving elexacaftor-tezacaftor-ivacaftor was approved for patients aged over 12 years old. Elexacaftor is a next-generation modulator that is proposed to act as both corrector and potentiator. In phase 3 studies, clinical end points of FEV1 were superior to the tezacaftor-ivacaftor combination with fewer adverse events. Following on, clinical trials have confirmed the safety profile, efficacy and pharmacokinetics of ETI in patients aged 2-5 years old. To date, the FDA has announced the availability of ETI for children from 2 years old with an F508del allele or any mutation responsive to therapy.\nApart from the approved modulators, there is ongoing development involving a novel triple combination of vanzacaftor-tezacaftor-deutivacaftor that has undergone phase 2 clinical trials in patients over 18 years. It is aimed to achieve once daily dosing for patients who have at least one copy of the F508del mutation and exceed the clinical benefit of ETI which is currently the benchmark therapy for F508del mutations. Undoubtedly, if it displays superior efficacy and tolerable safety profiles, clinical trials will proceed to young patients since it is hoped that HEMT treatment options can extend to younger age groups to control manifestations of CF symptoms early.\nSymptoms of CF extend to the reproductive system. Since the 1970 s, wwCF were described having lower fertility rates compared with healthy women. Dehydrated cervical mucus and disrupted pH balance can disrupt sperm viability for successful fertilisation. Furthermore, CFTR has been identified in the hypothalamus of both rats and humans where the regulation of homeostatic reproductive functions such as gonadotrophin-releasing hormone production may consequently be disrupted in CF patients.\nApart from indirectly enhancing health status, CFTR modulators may also directly restore fertility by correcting CFTR channel located in the cervix to decrease cervical mucus tenacity. Jones et al. support the hypothesis by displaying restored fertility in women despite no significant changes in the overall health status. Additionally, hysteroscopic images of the vagina highlights the clearance of mucus plugs after starting ivacaftor, further emphasising that restoration of CFTR localised in the reproductive system can improve fertility. The approval of ETI consequently escalated the number of pregnancies due to the high drug efficacy and mild adverse events with wide population suitability (Figure 1). Specifically, ETI have been proposed to have the potential to increase conception, even in patients with a history of subfertility.\nIt is well established in preclinical and clinical studies that all components of HEMT will pass through the placenta which raises concern for the effect it may have on fetal development. As more pregnancies are reported under ETI treatment, this paragraph focuses on ETI.\nIn animal reproductive models, the use of ETI during the organogenesis period at normal doses is safe, and at maternally toxic doses, ETI does not cause significant developmental defects. Similarly, in clinical cases reported, first-generation CFTR modulatory drugs are well tolerated, and emerging case reports of ETI use indicates that most maternal and fetal complications are unrelated to its use (Table 1). Moreover, a withdrawal effect initially proposed by Trimble et al. is observed after stopping ETI treatment in which the patient's pulmonary function deteriorates significantly. The impact of the withdrawal effect has prompted many wwCF to re-initiate therapy. Conversely, despite some promising and increasing use of ETI reported, the government's drug for pregnancy categorisation systems have indicated that ultimately, the lack of sufficient clinical studies of ETI use during pregnancy makes it difficult to establish certainty in its safety. Therefore, observations of complications from individual case reports should be prioritized for evaluation.\nNon-congenital cataract formation with ivacaftor treatment has been reported in preclinical rat studies and in children receiving both ivacaftor monotherapy and ivacaftor combined with other CFTR modulators like lumacaftor.. However, the exact pathophysiology or critical periods of exposure of ivacaftor-associated cataracts remains uncertain..",
"gender": "Unknown"
},
{
"age": 6,
"case_id": "PMC10547496_04",
"case_text": "Juvenile rats that were dosed from post-natal days 7-35 developed cataracts even at doses 0.1 times the maximum recommended human dose. Since this was only observed in the juvenile age group, it potentiates that ivacaftor may modulate early ocular developmental milestones which are subsequently observed in clinical studies. A number of studies associated with the manufacturer of HEMT found that 4.17% of CF patients between 2 and 6 years old developed cortical cataracts within 84 weeks of starting ivacaftor and 0.57% of CF patients 12 years and older developed subcapsular cataracts within 96 weeks of starting treatment.. Similarly, 1.72% of CF patients aged between 6 and 11 developed unspecified forms of cataracts within 24 weeks of starting lumacaftor combined with ivacaftor, and 2 out of 130 participants aged 6 years or older undertaking combination of ivacaftor-tezacaftor experienced cataract. Although in the recent clinical trials involving young patients under 1 year old, ivacaftor did not cause cataract development, 1 case of lenticular opacity was observed in children from 2 to 5 years old under ETI combination regime. These concerning findings prompted the FDA to suggest the conductance of ophthalmologic examination before and following ivacaftor monotherapy or combination modulator treatments in clinical settings. Given the anticipated rise in the number of younger patients who will be on modulator therapy in the future, this is an urgent research priority as the development of cataracts and risk of blindness will be devastating for these children and should not be accepted as trading one life-changing disease with another.\nA recent clinical series in which 3 out of 23 infants were diagnosed with congenital cataracts after being born to mothers who were taking ETI highlights a potential risk of ETI use during pregnancy (Table 2). In all cases of cataracts, mothers carrying at least one copy of the F508del mutation had been on ETI before their conception and continued treatment throughout pregnancy. There were no known risk factors and no family history of cataracts, suggesting that ETI may be the main contributor to this defect. Previous cases of non-congenital cataracts of unknown pathophysiology associated with ivacaftor use in juvenile animals and pediatric patients have already raised concern about the possible ocular influences ivacaftor may have (Table 2). Despite subsequent recommendations to assess for cataracts after in utero exposure to ivacaftor-containing therapies not revealing any clinical cases of cataracts in infants, there are limited cases studies and formal ophthalmic tests conducted to draw a definite conclusion. Currently, the three cases of cataracts are < 3 mm which is classified as visually insignificant thus they do not require surgical intervention at this stage. However, this study brings awareness to the potential adverse effect of ETI-related cataract development in newborns since no animal toxicity study has been conducted using ETI as the three-drug combination therapy concomitantly. Since recent reports of babies whose mothers were taking ETI during pregnancy are becoming increasingly common, there is the need to further validate the safety of ETI during these critical developmental periods.\nEye development, regulated by the transcriptional factor Pax6, begins with the protrusion of optic vesicles from the diencephalon by gestational day (GD) 25. The optic vesicle contacts the surface ectoderm layer and invaginates into the midsagittal plane, resulting in the ectodermal cells forming the lens and the optic vesicle forming the retina. Simultaneously, the basement membrane of the surface ectodermal cells are positioned as the outer surface and become the lens capsule to encapsulate the detached lens vesicle by gestational week (GW) 6. This transparent membrane thickens via deposition of matrix from lens cells to function as a key anchor for ciliary zonules that control lens accommodation, to regulate the passage of metabolic components into the avascular lens and act as a barrier against infectious agents. Lens capsule formation is an important developmental stage, as prior to this stage, the lens is vulnerable to infectious agents. In a study on in utero exposure to rubella virus after the human lens capsule has been formed at GW6, Karkinen-Jaaskelainen et al. observed normal eye morphogenesis, which contrasted to the lens fibre degeneration that occurred when the exposure to rubella was at GW4-5, before lens capsule formation was complete. Thus, this highlights that a well-developed lens capsule may mitigate damaging factors during embryogenesis.\nPrimary lens fibre cells differentiate from lens epithelial cells and elongate to form the embryonic nucleus within the lens vesicle by the end of GW7 (Figure 2). Subsequently, differentiated secondary lens fibres form concentric layers upon the original fibre mass and meet to form Y-shaped sutures visible at the end of the 3rd gestational month. Critically, to maintain lens transparency, central lens fibre cells will accumulate crystallin proteins and undergo constitutive de-nucleation and degradation of organelles. This process continues within the structurally compact lens and in the context of uniform proliferation of secondary fibre cells throughout life.\nDespite the adult lens being completely avascular, during development, it is supplied by a dense network of transient vessels that surround the lens capsule. To support lens growth by providing nutrients and oxygen, the anterior pupillary membrane and tunica vasculosa lentis from the hyaloid vasculature envelop the anterior and posterior hemispheres of the lens respectively by GW9. The importance of hyaloid vasculature is supported by observations of smaller lenses and nuclear cataracts in mouse studies where the hyaloid capillaries were not formed in fetal life. However, normal regression of fetal vasculatures involving hyalocytes and macrophages is equally crucial since the persistence of capillaries after birth will lead to congenital ocular anomalies such as persistent pupillary membranes.\nTo gain preclinical insight from animal toxicity studies on eye development, it is essential to identify the differences between rat models and humans. Structurally, rat eyes are a quarter the size of humans', but the ratio of their lens thickness to axial length is around four-fold greater than humans'. Zonular fibres that originate from the ciliary muscle and attach to the lens capsule are present in both species. Yet due to the poor development of this ciliary musculature in and the apparent lack of accommodation needs in rat eyes, the functional significance of the zonular fibres to modulate lens shape is less clear in rat eyes. Despite these differences, the embryogenesis process in rats is similar to humans, where the invagination of the ventral forebrain from GD11 begins the process of optic vesicle formation. However, in the short 21-23 days of gestational period, rat eye morphogenesis is significantly less developed at birth as seen in the eyelids, iris, and hyaloid vasculatures (Table 3).\nCataracts are opacifications within the lens that can be classified based on their location and time of onset. Childhood cataracts of both congenital and juvenile onset have a rarer incidence of 1.8-3.6/10,000 per year compared to age-related cataracts. The aetiology of childhood cataracts is diverse and, in some cases, the cause is unknown. While hereditary genetic conditions account for a majority of congenital bilateral cataracts, environmental factors including metabolic disorders and trauma can also lead to cataracts at birth. Additionally, intrauterine influences including maternal infections, radiation exposure and maternal drug use may also increase the risks.\nEye malformations can occur during the critical embryonic stage due to in utero exposure to drugs (Figure 3).. Ethanol is a known teratogenic substance shown to disrupt the early induction of the eye primordium via altering gene expression. Cook et al. suggest that major teratogenic effects are only observed in the mouse fetal eye when ethanol is administered before GD8 Once the fetal eye is exposed, the altered eye morphogenesis is irreversible. In past aetiology studies, maternal ingestion of abortifacients, anti-epileptic, anti-diabetic drugs, and corticosteroids are proposed to be associated with congenital cataracts. Despite the specific mechanism of action being unknown, apart from genetic modification, other possible pathological mechanisms induced by drug exposure include lens osmotic dysregulation, oxidative stress, and metabolic disturbances. Research by Jobling et al. hypothesises that steroid exposure causes cataract by altering growth factor expression to signal lens epithelial cells to migrate and aggregate at the posterior pole of lens. Whilst in exposure to anti-depressant drug (TP0446131), the observations of lens fibre degeneration were proposed to be due to TP0446131-related disturbance of cholesterol biosynthesis that was essential for lens fibre saturation. Ultimately, various mechanisms can disrupt the micro-environment of the lens biochemistry, leading to abnormal light absorption or light scattering of the eye that can progresses to vision-impairing cataract.",
"gender": "Unknown"
}
] |
PMC10547496
|
[
{
"age": 26,
"case_id": "PMC11063993_01",
"case_text": "A 26-year-old male with known Gorlin-Goltz syndrome had a diagnosis of developmental and epileptic encephalopathy (DEE) associated with bilateral frontocentral epileptiform discharges, predominantly in the left hemisphere on EEG, and MRI-confirmed extensive frontobasal, insular and temporal polymicrogyria. His caregiver reported severe cognitive deficit and focal to bilateral tonic-clonic seizures beginning at 1 year of age, enduring up to 3 years, when he was successfully treated with phenobarbital and valproate, which were tapered off when he was 10 years old. There has been no report of seizures nor use of antiseizure medication since then. Also, a diagnosis of Shprintzen-Goldberg syndrome (SGS) was clinically suspected, and the patient, with a 46-XY karyotype, is awaiting further molecular genetic testing for confirmation.",
"gender": "Male"
},
{
"age": 26,
"case_id": "PMC11063993_02",
"case_text": "He was admitted to the hospital last year, when he was 26-year-old, with acute respiratory failure and cardiac arrest with a shockable rhythm detected in an out-of-hospital setting. He received cardiopulmonary resuscitation (CPR) for 21 min, 7 defibrillation and orotracheal intubation. On arrival at the emergency department, a new episode of sustained wide QRS tachyarrhythmia was detected, associated with hypotension and the need for additional electrical cardioversion and vasoactive drugs. Episodes of seizures prior to the cardiac arrhythmias were not reported.\nThe patient was admitted to the intensive care unit and antibiotics were initiated due to findings of pulmonary consolidation due to bronchoaspiration, detected in a chest computed tomography. On the electrocardiogram (ECG), a short PR interval (90 ms) and delta wave were detected, suggestive of anomalous anteroseptal bundle (Fig. 1).\nCardiac magnetic resonance imaging was performed and revealed a nodular image located in the middle portion of the free wall of the right ventricle, measuring approximately 20x25mm (Fig. 2), Late gadolinium enhancement showed important and diffuse post-contrast hypersignal, suggestive of fibroma in the right ventricle.\nDue to concerns regarding anterograde electrical conduction through the accessory pathway, propafenone was initiated, but later switched to amiodarone, after the diagnosis of the cardiac fibroma.\nThe patient was referred to the electrophysiological study. During the study, orthodromic atrioventricular tachycardia was induced and easily interrupted by radiofrequency energy application. Pre-excited atrial fibrillation (AF) with a fast ventricular response was also induced (Fig. 3). Mapping of the tricuspid annulus revealed a shorter AV interval in the lateral/posterolateral region which received radiofrequency ablation. Ventricular arrhythmias were not inducible (Fig. 4). There was no arrhythmogenic foci near the cardiac fibroma.\nA final diagnosis of the sudden cardiac arrest due to pre-excited AF with fast ventricular rates was made. Since the patient was successfully treated with ablation of the accessory pathway, and no additional arrhythmias were detected near the cardiac fibroma or elsewhere, additional therapy with an implantable cardio-defibrillator (ICD) was not indicated.\nThe patient evolved with no complications from the procedure. Amiodarone was discontinued and the patient was discharged 48 h later.",
"gender": "Male"
}
] |
PMC11063993
|
[
{
"age": 28,
"case_id": "PMC11018369_01",
"case_text": "A 28-year-old male was admitted following a witnessed, out-of-hospital episode of spontaneous ventricular fibrillation (VF) leading to cardiac arrest. He received immediate bystander CPR (cardiopulmonary resuscitation) and a total of 7 DC (direct current) shocks before return of spontaneous circulation. Total downtime was 24 minutes. He was previously healthy and well, with no cardiac history and good physical fitness, and had not used alcohol or recreational drugs prior to presentation. His father had died suddenly aged 50 years.\nThe patient was extubated 24 h after admission and recovered fully, with initial confusion resolving within a few days. The first (3-lead) ECG (electrocardiogram) after ROSC (return of spontaneous circulation) demonstrated diffuse ST-segment depression and subsequent ECG monitoring documented multiple arrhythmias: sinus bradycardia, junctional escape rhythm, polymorphic ventricular ectopics (isolated and in self-terminating short runs), and prolonged QTc (472-511 ms). T wave inversion developed in V2-V4. Figures 1 and 2 show two patient ECGs from the day of admission and from day 12 during admission following implantation of ICD. Bedside TTE (see Figure 3), subsequently corroborated by TOE (see Figure 4) and by CMR (see Figure 5), demonstrated LV (left ventricular) dilatation and impairment, with LVEF (left ventricular systolic dysfunction) of 33% (Simpson's). There was MVP, with marked redundancy of the MV (mitral valve) leaflets, mild MR (mitral regurgitation), and MAD. There was no myocardial inflammation, infarction, infiltration, or fibrosis by CMR. The coronary arteries were unobstructed at invasive coronary angiography.\nHe received guideline-directed medical therapy (GDMT) for LV systolic dysfunction (spironolactone 25 mg once daily, bisoprolol 2.5 mg twice daily, ramipril 2.5 mg twice daily, and dapagliflozin 10 mg once daily), and 11 days after admission, an ICD (implantable cardioverter defibrillator) was implanted uneventfully; he remains well, under outpatient follow-up with the inherited cardiomyopathy team.",
"gender": "Male"
}
] |
PMC11018369
|
[
{
"age": 34,
"case_id": "PMC10753132_01",
"case_text": "A 34-year-old woman, a virgin, presented with a three-year history of abnormal uterine bleeding (AUB) and a body mass index (BMI) of 34. Her medical history revealed a diagnosis of polycystic ovary syndrome (PCOS) without any other known medical conditions or relevant family history. She also underwent hormone therapy for her polycystic ovary condition and received lifestyle modification recommendations. Her menstrual cycles were progressing toward regularity until the adenomyosis was discovered during the follow-up.\nInitial transabdominal sonography (TAS) revealed a typical presentation of adenomyosis in the uterus, indicated by the indirect findings of a globular shape, asymmetrical myometrial thickening, fan-shaped shadowing, and an irregular junctional zone in the anterior and posterior endometrium layers (Figure 1 ). Direct findings included the presence of echogenic subendometrial lines and buds. Notably, a large lobulated hyperechoic mass was found in the fundal region, showing cystic changes and extending from the endometrial to the myometrial region. The origin of this mass was uncertain due to the appearance of nearly well-defined margins in the outer part of the myometrium and ill-defined margins surrounding the endometrium.\nSubsequent pelvic MRI revealed diffuse uterine enlargement with a large endometrial-myometrial mass presenting a multicystic high-signal lesion in the anterior myometrial body of the uterus, extending to the anterior endometrial layer. The mass's unclear boundaries, along with the patient's severe bleeding, led to further investigations (Figure 2 ).\nLaboratory data revealed normal serum carcinoembryonic antigen (CEA) and carbohydrate antigen (CA) 19-9 values but elevated cancer antigen 125 (CA125). Transrectal ultrasonography (TRS) showed a hyperechoic mass located in the junctional zone, raising suspicions of atypical adenomyosis. A hysteroscopy was conducted, revealing a suspicious polyp-like lesion; however, its appearance did not distinctly differentiate between primary sources of endometrial cancer.\nBased on the high probability of malignancy, the patient underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy (TAH BSO). Preoperative evaluations were conducted to identify lymph node involvement and metastases. Given the absence of lymph node involvement and metastasis, based on the tumor surgeon's opinion, lymph node dissection was considered unnecessary and was not performed.\nPost-operative histologic grading revealed FIGO grade I, more than 50% myometrial invasion, and extensive adenomyosis foci involved by carcinoma. Notably, no uterine serosal involvement, lower uterine segment or cervical stromal involvement, lymphovascular invasion, or regional lymph nodes were identified. Other findings include chronic cervicitis in the cervix and unremarkable right ovary, fallopian tubes, and left ovary (Figure 3 ). So, after surgery, the criteria set by Colman et al. for diagnosing EC-AIA were satisfied based on histopathology. These criteria entail the absence of carcinoma in the usual endometrial locations, identification of carcinoma originating from adenomyotic epithelium, and the presence of surrounding endometrial stromal cells confirming the adenomyosis diagnosis.\nFollowing 25 sessions of radiotherapy, a positron emission tomography (PET) scan was conducted after 2 months to evaluate the possibility of metastasis. The PET scan reported a small pulmonary nodule without fluorodeoxyglucose (FDG) uptake in the posterior segment of the right upper lobe of the right lung, adjacent to the major fissure, which was not considered a metastasis.",
"gender": "Female"
}
] |
PMC10753132
|
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