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[
{
"age": 22,
"case_id": "PMC8233070_01",
"case_text": "A 22-year-old male was brought to the emergency department (ED) for cough and progressive shortness of breath for the last six days. His past medical history is unremarkable except for daily vaping. A week ago he also tested positive for influenza B when he had chills, fatigue, and sore throat. He did not take oseltamivir due to a late prescription from his primary care physician. He had low-grade fever with nausea and vomiting with fierce cough four days before presentation to ED. He also felt crepitus in the neck. He did not have any prior chest surgical history or any history of illicit drug abuse. In the ED, his temperature was 99.1 degrees Fahrenheit, blood pressure of 150/95 mmHg, heart rate of 136 beats/min, and a saturation of 91% on 3 L nasal cannula (NC) oxygen. On physical examination, subcutaneous emphysema was noted in the anterior cervical region. Blood work showed leukocytosis of 18,000/mL and a procalcitonin level of 0.21 ng/mL. Chest X-ray (CXR) showed pneumomediastinum with subcutaneous emphysema extending into the cervical region with bilateral pneumonia (Figure 1).\nChest computed tomography (CT) showed severe pneumomediastinum with subcutaneous emphysema and diffuse pneumonitis (Figure 2).\nThe patient was admitted to the medical floor. He was treated with supplemental 3 L NC supplemental oxygen, and oseltamivir and antibiotics were discontinued. A gastrografin esophagogram was done, and esophageal rupture was ruled out. Repeat CXR two days later showed improvement of pneumomediastinum and subcutaneous emphysema (Figure 3). He was counseled extensively against vaping and was discharged home on room air.",
"gender": "Male"
}
] |
PMC8233070
|
[
{
"age": 28,
"case_id": "PMC3523579_01",
"case_text": "A 28-year-old nonsmoking male was referred for diagnostic evaluation of recurrent mild haemoptysis associated with a right upper lobe solitary pulmonary nodule of 8 weeks duration. Chest radiograph revealed a 1.5 x 2 cm coin lesion in the posterior segment of the right upper lobe of the lung (Figure 1).\nThe medical history was noncontributory. A computed tomographic (CT) scan of the chest confirmed the chest radiograph findings; a solid mass was noted in the posterior segment of the right upper lobe of the lung with an area of central lucency (Figure 2).\nThere was no hilar lymphadenopathy. Sputum microscopy, culture, and cytological examination were noncontributory. The ESR was 14, the haemoglobin 14.6 g/dL, and the leukocyte count of 8.8 x 109/L. The other serum haematological and biochemical results were normal.\nIn view of the patient's ongoing haemoptysis and lack of response to antibiotics he was subjected to an exploratory thoracotomy and wedge resection of the lesion in the right upper lobe. A solid mass in the posterior segment of the right upper lobe was noted and it was excised. No associated lymphadenopathy was noted. Frozen section of the mass revealed no evidence of carcinoma or tuberculosis. The patient developed a right upper lobe lung abscess postoperatively, and underwent a complete right upper lobe lobectomy.\nMacroscopically, a well-circumscribed tan-coloured nodule measuring 35 x 15 mm was present. The cut surfaces of the tumour revealed a haemorrhagic necrotic centre. Microscopically, the mass consisted of a heavy inflammatory cell infiltrate composed predominantly of lymphocytes, with plasma cells and histiocytes. Foamy histiocytes with macrophages were also seen, as well as occasional eosinophils and neutrophils. Focal areas of micro-abscess formation with necrosis were also noted. A marked degree of fibrosis of the interstitial tissue was present with proliferating myofibroblasts. The histological characteristics were compatible with an inflammatory myofibroblastic pseudotumour (organising pneumonia-like type; Figure 3).\nThe postoperative course was uneventful, the patient was discharged from the hospital one week later, and three years after surgical resection the patient remains well and free of disease.",
"gender": "Male"
}
] |
PMC3523579
|
[
{
"age": 77,
"case_id": "PMC6122280_01",
"case_text": "A 77-year-old male patient presented with low back pain alone for 3 years duration. He had a history of prostate cancer, skin melanoma, and an MRI-incompatible DDI pacemaker implanted for sick sinus syndrome.\nThe enhanced lumbar computed tomography (CT) showed an inhomogeneously enhancing intramedullary mass, located at the L3 level, measuring approximately 1.3 x 1 x 1 cm [Figure 1a].\nSurgical resection required an L3 hemilaminectomy; the lesion was fully excised. Macroscopically, the tumor was mulberry-shaped, purplish in color, and well demarcated, but tightly adhered to a nerve root of the cauda equina [Figure 2]. Intraoperative monitoring (e.g. somatosensory and motor evoked potentials) indicated that the involved nerve root innervated the anal sphincter and adduction of the toe. Nevertheless, the root had to be sacrificed as it was enveloped by tumor. The histologic examination documented dilated vessels lined by endothelial cells without atypia. Of interest, in the periphery of the mass, neurons of the peripheral nervous system were seen [Figure 3].\nImmunohistochemical examination of the specimen demonstrated that the endothelial lining was composed of a rich network of cavernous vessels (CD34 - Figure 3b, CD31 - Figure 3c, ERG - Figure 3d). The tissue stained negative for prostate cancer (PSA, PSAP), melanoma (HMB-45, S-100), lymphoma (D2-40), meningioma (EMA, progesterone receptors), and Kaposi's sarcoma (HHV-8) markers; it also demonstrated a low mitotic index (Ki-67 2-3%, Figure 3e). Rather, findings were consistent with a cavernous hemangioma.\nPostoperatively, the patient's immediate and 6-month postoperative CT scans documented complete removal of the tumor, and he remained neurologically intact [Figure 1b].",
"gender": "Male"
}
] |
PMC6122280
|
[
{
"age": 55,
"case_id": "PMC4533487_01",
"case_text": "A 55-year-old man had an 8-year history of invasive thymoma. He had undergone resection of a mediastinal tumor via thoracoscopy and irradiation of 40 Gy total to the mediastinal region 8 years before. Thereafter, pleural disseminations and multiple bone metastases, including to the spine, rib, and pelvis, had developed 4 years and 6 months before, respectively. The patient had received multiple debulking surgeries with chemo-radiotherapy. The pathological diagnosis was type B3 invasive thymoma (non-cancerous).\nSix months after bone metastases was detected, he presented with sudden onset of left hemiparesis. His Glasgow Coma Scale score was 15 and neurological examination revealed severe left hemiparesis. Computed tomography (CT) showed right frontal lobe intracerebral hemorrhage (Fig. 1). Contrast-enhanced magnetic resonance (MR) imaging showed an unremarkable enhanced intraaxial mass with slight perifocal edema appearing to be acute hematoma, but the possibility of hemorrhagic metastasis could not be rejected (Fig. 2). Digital subtraction angiography showed no tumor stain. The patient underwent removal of the hematoma. Small corticotomy was performed at the premotor area and hematoma located in the motor cortex was observed. Histological examination showed brain metastasis from invasive thymoma. Pathological findings revealed a small quantity of epithelioid cells inside the hematoma (Fig. 3A). There were no tumor cells in the perifocal damaged brain. Immunohistochemical studies showed that these cells were positive for keratin (Fig. 3B) and negative for CD5 and CD117 (not shown), which were useful for differential diagnosis of thymoma or thymic carcinoma. These features were compatible with metastases from type B3 thymoma.\nThe patient's postoperative course was uneventful. Postoperative MR imaging showed no residual tumor and no other metastases. His hemiparesis improved and he was able to walk aided by a walker. His systemic metastases progressed slowly and became resistant to therapy. He underwent palliative care and was transferred to a rehabilitation hospital.",
"gender": "Male"
}
] |
PMC4533487
|
[
{
"age": 30,
"case_id": "PMC6195931_01",
"case_text": "A 30-year-old primigravida with no significant past history of medical, surgical or endovascular interventions, presented at 34 weeks of gestation with a history of waking up with sudden onset of stabbing abdominal pain that was not suggestive of labour pain, vomiting and feeling faint. The patient reported that she could not perceive any foetal movements, but denied any history of recent trauma or per vaginal bleeding. She was hypotensive (blood pressure 70/40 mmHg) with a normal heart rate and was immediately fluid resuscitated.\nOn examination, the patient had a diffusely tender abdomen with cold, clammy peripheries. The obstetric assessment showed no signs of labour, closed cervix and absent foetal heart sounds. An artificial rupture of membranes was performed that showed clear liquid. Bedside obstetric ultrasound performed in the emergency room confirmed the absence of foetal heart activity and movements. A provisional diagnosis of placental abruption with foetal demise was made. The stillborn baby and placenta were delivered vaginally 6 h later.\nA few hours postpartum, the patient complained of severe abdominal pain similar to the pain earlier in the day. The patient was noted to become hypotensive and tachycardic, with generalized abdominal distension and tenderness. Full blood count analysis revealed a significant drop in haemoglobin and platelets but normal coagulation profile.\nThe patient was transferred to the high dependency care unit and was transfused three units of packed red cells and two units of platelets. Bedside ultrasound was performed that showed free fluid around the liver. Spontaneous rupture of the liver was suspected and a non-contrast CT scan of the abdomen was performed that showed haemorrhagic fluid around the liver, which was intact. Clinically, the patient continued to show signs of bleeding over the next few hours, with low haemoglobin levels on repeat analysis despite the transfusion. However, she remained haemodynamically stable with mild tachycardia.\nThe obstetric team sought the advice of the on-call interventional radiologist to explore the possibility of embolization in view of the suspected diagnosis of ruptured liver. A CT angiogram of the abdomen and pelvis was advised as the initial investigation to localize the bleeding site, as the patient remained clinically stable. This revealed a focal dilatation of the ascending segment of the right uterine artery measuring 6 mm, suggestive of a pseudoaneurysm and extensive haemoperitoneum within the abdomen and pelvis (Figures 1 and 2). Following discussion between the gynaecologists and the interventional radiologist, the patient was transferred immediately within the next hour to the interventional suite. A pelvic angiogram was performed followed by selective bilateral uterine arteriograms. A right uterine artery pseudoaneurysm was demonstrated on the right iliac angiogram (Figure 3) corresponding to the CT angiogram findings with no active bleeding. A selective right uterine artery angiogram demonstrated active contrast extravasation, which was probably owing to the disruption of the clot surrounding the pseudoaneurysm due to the pressure from the contrast injection directly into the mid-uterine artery as opposed to the non-selective earlier angiograms (Figure 4). Immediate embolization of the uterine artery proximal to the pseudoaneurysm was performed using fibred platinum coils (035\" 5 mm x 4.5 mm VortX 35, Boston Scientific Corporation, Hemel Hempstead, UK). The final angiogram showed no evidence of the previously demonstrated pseudoaneurysm or bleeding and stasis of flow in the right uterine artery (Figure 5). Subsequently, the patient remained haemodynamically stable and asymptomatic with no evidence of further bleeding and was transferred back to the maternity unit for grievance counselling. Histology of the placenta confirmed an intact placenta with no evidence of abruption and findings compatible with foetal demise within 24 h prior to delivery. The patient remained asymptomatic and well at 3-month outpatient follow-up.",
"gender": "Female"
}
] |
PMC6195931
|
[
{
"age": null,
"case_id": "PMC5514622_01",
"case_text": "Three patients (two females & one male) with ages ranging from 12 to 50 years were treated for SAVMs in our institution which is a tertiary care, state run teaching institute. All patients presented with pulsatile mass over scalp with associated headache. Preoperative angiography (internal and external carotid) was performed in all patients to determine the feeding vessels and anatomical extent of lesion (Fig. 1). None of the patients had an intracranial extension of pathology. Patient details are enumerated in Table 1.",
"gender": "Female"
}
] |
PMC5514622
|
[
{
"age": 83,
"case_id": "PMC2719756_01",
"case_text": "A 83-year-old woman presented to the emergency room with a 3-weeks history of watery diarrhoea up to 5 times a day, dehydration, and a weight loss of 4 kg. No significant changes of the inflammatory parameters were found. The patient had a history of presacral immunocytoma treated by radiotherapy and chemotherapy. A plain radiograph and ultrasound of the abdomen at the emergency were unremarkable. The preliminary diagnosis was radio-enteritis. After 10 days of hospital the patient developed fever and an acute onset of abdominal pain. Computer tomography of the abdomen revealed 3 inflammatory mesenteric masses containing few air bubbles involving several jejunal loops and the colon transversum. Some contrast-filled and air-filled diverticula were present in the jejunum adjacent to the inflammatory mass, and the diagnosis of jejunal diverticulitis was suggested (Figure 1). At surgery a perforated jejunal diverticulum with associated abscess was found, and resection with end-to-end anastomosis was performed.",
"gender": "Female"
},
{
"age": 73,
"case_id": "PMC2719756_02",
"case_text": "A 73-year-old woman presented with a 3-day history of left lower quadrant pain. Physical examination revealed left lower quadrant tenderness with rebound pain. There was a weight loss of 10 kg over 5 months. A plain radiograph was nonspecific with a few air-fluid levels. Computer tomography of the abdomen revealed multiple jejunal diverticula, surrounding inflammatory changes in the mesenteric fat adjacent to several jejunal loops with symmetric wall thickening. There were some minimal signs of pneumoperitoneum and some free intra-abdominal fluid (Figure 2). The diagnosis of jejunal diverticulitis with contained perforation was made. At surgery a resection of the involved area with primary jejunojejunal anastomosis and drainage of the abscess was performed.",
"gender": "Female"
},
{
"age": 74,
"case_id": "PMC2719756_03",
"case_text": "A 74-year-old man presented to the emergency room with an acute onset of epigastric and periumbilical pain, described as being a continous pain more severe at the left side with rebound tenderness. His temperature was 39.3 C. There was no vomiting nor nausea. The patient had a history of stomach ulcer, appendectomy, and a cholecystectomy. A plain radiograph was nonspecific with a few air-fluid levels. The CT of the abdomen revealed the diagnosis of jejunal diverticulitis with limited signs of perforation (Figure 3(a)). The patient was treated with bowel rest and broad spectrum IV antibiotics. A barium study after three weeks revealed several jejunal diverticula without signs of stenosis or fistulisation (Figure 3(b)).",
"gender": "Male"
}
] |
PMC2719756
|
[
{
"age": null,
"case_id": "PMC9377306_01",
"case_text": "A male newborn patient, third child. Intrauterine diagnosis of hypoplastic left heart syndrome, having undergone prenatal care with an obstetrician specialized in fetal medicine and congenital malformations and with a pediatric cardiologist. During the monthly prenatal consultations, the possibilities of surgical treatment, risks of complications, and statistical data regarding prognosis and death were discussed. The parents centralized the decisions although they had family support, and together with the prenatal team, they took into consideration the risks and benefits of each surgical technique. They opted for a hybrid procedure (stent implantation in the arterial canal topography and selective banding of the pulmonary arteries), but were against extracorporeal membrane oxygenation (ECMO), due to the associated risk of neurological sequelae.\nHe was born by vaginal delivery, at 38 6/7 weeks gestational age, weight 3,380g, Apgar score 8/9, and no intercurrent events. He was placed in skin-to-skin contact with his mother and had a late umbilical cord clamping. Accompanied by the father, he was examined, warmed up, maintaining oxygen saturation (SatO2) 85% at room air.\nAn immediate echocardiogram confirmed hypoplastic left heart syndrome with mitral stenosis and aortic atresia with restrictive atrial septal defect (ASD). A balloon catheter atrioseptostomy was indicated, with an increase of the ASD from 1.5mm to 5mm, and reduction of the trans-septal gradient from 29mmHg to 4mmHg.\nIn the NICU, he remained on invasive mechanical ventilation (IMV), analgesia, continuous prostaglandin infusion, and maintenance saline. Continuous adrenaline was introduced as a vasoactive drug after umbilical catheterization, with adequate volemia, and metabolic disorders were corrected. It was necessary to adjust the inspired oxygen fraction (FiO2) below the physiological value (21%) to improve the systemic and pulmonary flow (Qp/Qs) ratio. To this end, nitrogen was added to the mixture of ventilatory gases, obtaining FiO2 of 19%, with improvement of coronary perfusion and systemic output.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC9377306_02",
"case_text": "The parents had free access to the newborn, the mother was encouraged to carry the baby, according to the NICU routine. Knowing about the early surgical schedule, the multiprofessional team also focused on parental care. Constant contact between parents and the newborn was promoted, psychological parental support was provided, and continuous dialogue was maintained regarding doubts and feelings experienced by the parents. The mother was encouraged to attend the milk bank, so that breastfeeding would be preponderant as soon as possible, always aware of the seriousness of the situation and of the newborn's prognosis. All along, the decisions about type of treatment were centered on the parents, with all risks being clarified by the attending physician. After parental consent and clarification of all doubts, the parents' decision was respected considering their autonomy aiming at ethics and patient safety.\nA hybrid procedure was performed on the second day of life, which included selective banding of the pulmonary arteries via sternotomy and stenting of the arterial canal in the cath lab; invasive blood pressure monitoring; placement of a central venous catheter; and allocation of a mediastinal drain, and pacemaker wires.\nHe returned to the NICU on adrenaline and IMV, requiring volume and metabolic adjustment and transfusion of blood products. Two hours later, he presented sudden instability with cardiac arrest.\nNeonatal resuscitation was initiated, with chest compressions, manual ventilation, use of standard doses of vasoactive drugs, and volume expansion. The echocardiogram showed severe dysfunction, no pericardial effusion, and radiography ruled out air leak syndrome. The probable diagnosis considered was acute myocardial infarction, considering the anatomy of the congenital heart disease and physiology after the surgical procedure. Starting on ECMO was considered, but the previous parental resolution regarding the non-use of this method of hemodynamic support was respected.\nThe mother was summoned to the NICU and arrived during the resuscitation process, which lasted approximately 40 minutes with no response, and death was confirmed. Upon being informed about the clinical progression, with prolonged resuscitation and no effective response, the mother immediately agreed to interrupting the procedures and requested to remove the newborn from the incubator. The mother physically distanced herself from the healthcare professionals, remained with her son on her lap, and tried to remove all invasive devices from her son (catheters, drains, accesses, and probes).",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC9377306_03",
"case_text": "Slowly, the nursing staff explained to the mother, in her native language, the need and importance of assisting her in this process. Respecting the organizational protocols, the trained professionals removed the patient's devices, following the good practices and safety standards for the patient, the family member, and the health professionals. Thus, the nursing and medical staff, with the active participation of the mother, removed the devices, one by one. The mother was welcomed, held the newborn in her arms, and received the comfort of the team's words in her language of understanding. On her lap, the newborn remained for about 90 minutes, when the mother then requested the opportunity to change the newborn's diaper. Faced with such a simple request, which resulted in the diaper changed by the mother, the multiprofessional team could see the great significance of such apparently small attitudes. There were several benefits brought by this practice, among them answering a last request from a grieving mother, humanizing the moment of death, and bringing a new look to issues that are so difficult to be addressed - since this practice was innovative in the NICU.\nBecause family and religion are two entities that can help in the grieving process, the parents were offered the possibility of the team contacting other family members, but the parents chose to conduct the communication with the grandparents. Regarding the possibility of counseling or religious ceremony, the parents refused such support.( )\nFollowing the protocol of the event, the newborn would be transferred to the morgue, where it would remain until transportation for the wake and burial. However, knowing that culturally, in her country of origin, the mother would take her newborn to be mourned at home and only then be sent to the cemetery, the team understood the mother's request to keep her son wrapped in her scarf and in her arms until the removal to the wake, allowing the newborn and mother to be safe and accompanied until the moment of transfer - which is hospital standard - and enabling the mother's aspiration to remain with her son as long as desired.",
"gender": "Female"
}
] |
PMC9377306
|
[
{
"age": null,
"case_id": "PMC4821441_01",
"case_text": "A man in his 40s born in Aomori prefecture, Japan, had been feeling mild malaise. He was first found to have thyroid dysfunction at another hospital 17 months before admission and was referred to our hospital for investigation of the cause of thyroid dysfunction. On admission, his body temperature was 36.8 C, blood pressure was 136/78 mmHg, and heart rate was 82 bpm. Physical examination revealed no exophthalmos, finger tremors, skin wetness, or goiter. After the diagnosis of FDH, the patient's mother was also found to have FDH.\nSerum TSH, FT4, FT3, total thyroxine (TT4), and total triiodothyronine (TT3) levels were measured using automated immunoassay systems (Architect from Abbott Diagnostics, Elecsys from Roche Diagnostics, or Lumipulse from Fujirebio). Laboratory data on admission revealed SITSH (Table 1). Negative results were obtained for TSH receptor antibody, thyroid-stimulating antibody, antithyroglobulin antibody, and antithyroid peroxidase antibody. The three-hour thyroid I-123 uptake value was 6.2%, which was within the normal range. Ultrasonography of the thyroid gland revealed no tumor, and blood flow and thyroid size were both normal. Magnetic resonance imaging of the pituitary gland revealed no tumor (Fig. 1). Based on these investigations, we considered that SITSH might be due to RTH, but ruled out TSH-secreting pituitary tumor. Then, a genomic DNA sample was obtained for clinical diagnosis, after receiving informed consent. However, genomic DNA sequencing of exons 4-10 of the thyroid hormone receptor beta (TRbeta) gene showed no mutation. Therefore, we investigated the possibility of albumin gene mutations. Direct genomic sequencing of exon 7 of the albumin gene revealed a substitution of cytosine (C) for guanine (G) in the second nucleotide of codon 218 in one of the two alleles, leading to the replacement of arginine by proline (Fig. 2). Therefore, we diagnosed FDH caused by R218P heterozygous point mutation.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC4821441_02",
"case_text": "Since the diagnosis of FDH, the patient has been followed up without pharmacotherapy. The symptom of malaise disappeared spontaneously over time, but serum thyroid function tests remained unchanged. The symptom of malaise was therefore considered unrelated to thyroid hormone levels. Thyroid hormone data from admission to 18 months after admission are shown in Table 2. Serum TT4 concentration was markedly increased, but serum TT3 concentration was only slightly elevated. We evaluated the effect of a polyethylene glycol (PEG) precipitation test in the serum of FDH patients as previously reported. The results of PEG precipitation testing in FDH patients and healthy controls were almost the same (Table 3). Therefore, the possible effect of anti-triiodothyronine antibody or anti-thyroxine antibody was denied, but the PEG precipitation test was not able to reveal the exact value of FT4 in the serum of FDH patients. Thyroid hormone levels measured by Architect, Elecsys , and Lumipulse systems 21 months after admission are shown in Table 4. Thyroid hormone levels measured by Architect and Elecsys showed similar results and suggested SITSH-like laboratory findings, but those measured by Lumipulse showed almost normal ranges of FT4 and FT3 levels.",
"gender": "Unknown"
}
] |
PMC4821441
|
[
{
"age": 9,
"case_id": "PMC5360453_01",
"case_text": "The index patient was a 9-year-old boy (Figure 2, II-3), corrected for myopia since 3 years of age, who always had difficulty watching television and reading. He never complained of night blindness, peripheral vision loss, and dyschromatopsia, but he had moderate photophobia and wore photochromic glasses. The disease course seemed not progressive. Visual acuity was 20/30 in both eyes with -1.75(-2.25)40 oculus dexter (OD) and -6.25(-1.50)5 oculus sinister (OS). The anterior segments were normal, and the lenses were transparent. The fundus showed a moderate overall depigmentation, absence of the foveal reflex with a slight narrowing of the retinal vessels, and moderate pallor of the optic disc but no atrophy or pigment deposits, which was also confirmed with infrared reflectance images (Figure 3A,B). The retinal autofluorescence images were almost normal except a moderate perifoveal hyperautofluorescence (Figure 3C). Optical coherence tomography (OCT) showed a normal peripheral retina, but we noted bilaterally moderate macular thinning with the ellipsoid zone moderately decreased in the thickness in the temporal part of the fovea (Figure 3D). Color vision testing with Lanthony D-15 HUE color tests showed a bilateral moderate blue-yellow axis of color confusion (not shown). In mixed kinetic and static perimetry, the peripheral isopter IIIc was normal on each side, 90 in temporal and 45 in nasal, but there was a medium decrease in the retinal sensitivity of the central 30 , including in the macular area (Figure 3E). On the ISCEV ERG, the amplitude of the scotopic responses was normal (Figure 3F). However, the photopic responses to a single flash were reduced and showed a moderate electronegative aspect. The 30 Hz flicker responses were reduced to about 30% of the normal value. In the oscillatory potentials (OP), OP1 was absent; in the others, OPs were present but diminished in amplitude (not shown). Due to the reduced photopic responses, the decreased visual acuity, presence of myopia, no obvious disease progression, and absence of night blindness, it was concluded that the patient had an atypical type of icCSNB. Although the name incomplete CSNB is misleading, patients with this disease often reveal the absence of night blindness. Two older sisters had no particular visual difficulties. His parents, both unaffected, were second cousins of Swiss origin. There was no history of this disease in the family. Therefore, the patient was an isolated case, which, given the parental consanguinity, suggested an autosomal recessive mode of inheritance. X-linked heredity could not be excluded, but as the mother had five unaffected brothers, this mode of inheritance was not supported.\nMutation screening showed that none of the known genes underlying icCSNB and the other CSNB candidate genes presented any disease-causing variant. Therefore, WES was performed for the trio, and sequence filtration isolated 15 putative variants (Appendix 1) from 194 insertions/deletions (InDels) and 1,597 single nucleotide variants (SNVs), as the splice-site mutation in intron 3 of the TTLL5 gene, c.182-3_182-1delinsAA (Appendix 2) selected for further cosegregation studies. For all subjects, the overall sequencing coverage of the captured regions was 92% and 88% for 10X and 25X depth of coverage, respectively, resulting in a mean sequencing depth of 109X per base (Appendix 3). Both unaffected parents were found to be heterozygous for this variant, at 40% and 48% in the mother and father, respectively, and the proband was homozygous for this variant, at 99%. The sequencing depth at this position was 132X and 124X in the mother and father, respectively, and 141X for the proband (Appendix 2). This c.182-3_182-1delinsAA mutation in TTLL5 was validated in the index patient and the unaffected parents with direct Sanger sequencing (Figure 2).",
"gender": "Male"
}
] |
PMC5360453
|
[
{
"age": null,
"case_id": "PMC10414553_01",
"case_text": "The clinical aspects of the analysed case of inflammatory active paraganglioma with associated AA amyloidosis has already been published elsewhere. For a better understanding, we briefly summarize the case study and include additional in-depth details on organ response pattern: A glomus tumour close to the bifurcation of the carotid artery was surgically removed in 1990. Seven years later, metastases were detected for the first time. Since then, ongoing treatment with octreotide resulted in stable disease. An acute phase reaction since at least 1995 was finally interpreted as paraganglioma-associated, but octreotide showed no effect on tumour associated inflammation. As long-term complication of the ongoing inflammation the patient developed rapid progressive systemic AA amyloidosis with multi-organ involvement including cardiac and renal, hepatic, gastrointestinal, spleen and thyroid gland involvement within less than one year according (Fig 1).",
"gender": "Unknown"
}
] |
PMC10414553
|
[
{
"age": 26,
"case_id": "PMC5366803_01",
"case_text": "A 26-year-old man came to the emergency room in our tertiary eye hospital 1 day after his right eye was hit by a nail while hammering. The patient was referred from a district hospital with an IOFB in the right eye. He received an injection of anti-tetanus serum at initial admission. \nThe general examination was within normal limits. An ophthalmological examination was conducted; best corrected visual acuity (VA) was 6/5 in each eye, ocular motility was full in all directions, and digital intraocular pressures were normal for both eyes. The anterior segment of the right eye showed a hyperemic conjunctiva with a nail lodged at the temporal limbus (Figure 1 (Fig. 1)). Corneal edema was present, but other anterior segment findings were normal (round pupil, no synechiae or lens opacities, and anterior chamber formed with no flare or cells). The anterior segment of the left eye was within normal limits. Fundoscopic examination of the right eye revealed clear media with a visible foreign body (nail) in the vitreous, a round and sharp border of the optic disc, a flat retina, and good foveal reflex. The posterior segment of the left eye was within normal limits. \nThe patient was diagnosed with an IOFB in the right eye. His treatment plan included intravenous cefotaxime injection (1 g) twice daily and hourly ofloxacin eye drop for the right eye in addition to being scheduled for IOFB extraction and intravitreal antibiotic (IVAB) injection. \nUltrasonography examination showed an IOFB located in the limbus/pars plana that had penetrated into the vitreous cavity and posterior segment inflammation (Figure 2 (Fig. 2)).\nThe surgery was performed 6 hours after administered. The nail was lodged at the limbus (9 o'clock) and had penetrated into the vitreous cavity, contacting the edge of the lens. It was removed with forceps, and measured 9 mm in length. Anterior vitrectomy and vitreous tap were then performed around the wound and the vitreous contents were subjected to Gram staining and culture. The wound was sutured, and vancomycin (1 mg) and amikacin (0.2 mg) were injected intravitreally. The patient was also given oral paracetamol (500 mg) three times daily and prednisolone acetate eye drops six times daily for the right eye. \nOn the first postoperative day, the uncorrected VA for the right eye was count fingers. Anterior segment examination showed a closed wound and two in-place sutures at the temporal limbus (Figure 3 (Fig. 3)). Corneal edema, a hyperemic conjunctiva, subconjunctival bleeding, and a moderate depth anterior chamber with inflammation were noted. As before, the pupil was round and no synechiae or lens opacities were observed. The posterior segment examination revealed clear media, a normal optic disc, a flat retina, and macular edema with decreased foveal reflex. Gram stain of the vitreous tap revealed the presence of Gram-positive cocci, while the KOH stain was negative. The previous therapies were continued with the addition of 48 mg of methyl prednisolone orally once a day. \nAngiographic examination of the right eye revealed hypofluorescence in the arteriovenous phase due to a vascular filling defect at the macula. Angiographic examination of the left eye was within normal limits. Based on the angiogram results, we diagnosed macular ischemia of the right eye (Figure 4 (Fig. 4)).\nOptical coherence tomography (OCT) examination of the right eye revealed increased retinal thickness with reduced intraretinal reflectivity, although the signal strength was ambiguous. OCT examination of the left eye was within normal limits (Figure 5 (Fig. 5)).\nThree days after surgery, the uncorrected VA of the right eye was still count fingers, although there was a decrease in subconjunctival bleeding, corneal edema, and anterior chamber inflammation. The posterior segment examination continued to show macular edema. Previous therapies were continued with the addition of oral ciprofloxacin (750 mg) twice daily. The patient was discharged from the hospital with a review scheduled 1 week later.",
"gender": "Male"
}
] |
PMC5366803
|
[
{
"age": 33,
"case_id": "PMC9922378_01",
"case_text": "A 33-year-old woman presented to our orthopedic clinic with a five-year history of right shoulder pain. The pain was localized to the right shoulder without any weakness, numbness, or associated neck pain. The pain was worse after any activity involving the use of the right shoulder. The patient also reported that the pain occurred at night and disturbed her sleep. She recalled an injury during a scuba diving session five years earlier when she dove into the sea in an awkward position, hitting the water with her right shoulder. The pain began at this point, but it was not severe enough for her to seek medical attention. The pain was affecting her more frequently and with worsening intensity in the year and a half prior to coming to our orthopedic clinic.\nOn physical examination, no obvious deformity, swelling, or erythema of the shoulder was observed. Active forward flexion of the right shoulder was from 0 to 130 and abduction was from 0 to 150 . The range of movement was limited because of pain and not weakness. All special tests for the shoulder yielded negative results.\nA plain radiograph did not show any abnormalities, and MRI was subsequently ordered. MRI showed a subchondral bone cyst at the glenoid fossa (Figure 1). Preoperatively, a supplementary CT scan was also obtained (Figure 2).\nDiagnostic arthroscopy of the left shoulder was done through surgical exploration. The patient was placed in a beach chair position under general anesthesia. The surgery started with a diagnostic scope of her right shoulder. The diagnostic arthroscopy revealed a loose body measuring about 1.0 cm x 1.0 cm, which was identified as a piece of cartilage detached from the defect area (Figure 3), and a defect over the glenoid fossa at the lower anterior quadrant measuring 1.0 cm x 1.0 cm (Figure 4). The surgery was then converted to open surgery using the deltopectoral approach, and the cyst was curetted (Figure 5) and packed with an autologous bone graft (Figure 6) harvested from the left iliac crest. Postoperatively, the patient wore a slingshot shoulder brace and had complete immobilization of the right shoulder for two weeks. After two weeks, she was instructed to do a one-plane range of movement over the shoulder, which involved forward flexion and extension. Six weeks postoperatively, the patient was instructed to start doing full range of motion of the right shoulder. Immediately post-surgery, the patient reported that she did not have any resting pain or night pain.\nHistopathology examination of the tissue sample revealed a combination of benign tissue composed of bone, cartilage, and fibrous tissue.\nThe patient was followed up regularly in our clinic postoperatively, and she has not experienced any pain since the surgery. She has a full range of movement for the shoulder after completing physiotherapy. An MRI of the shoulder was repeated six months postoperatively and showed that a callus had formed at the location of the cyst (Figure 7).",
"gender": "Female"
}
] |
PMC9922378
|
[
{
"age": 65,
"case_id": "PMC8077721_01",
"case_text": "A 65-year-old female, known case of hypertension, who had been diagnosed and treated as COVID-19 infection two months ago presented to the rheumatology outpatient clinic with complaints of pain in both hands, including the small joints of hands, for the last one month. The pain was intermittent and was more marked in the morning upon waking up. She used nonsteroidal anti-inflammatory drugs (NSAIDs) for this which provided her temporary relief.\nGrade 2 synovitis in bilateral metacarpophalangeal (MCP) joints 2 and 5 and Grade 1 synovitis in bilateral PIP joints 2 to 4\nGrade 2 synovitis in both wrists\nPower Doppler negative\nNo bony erosions seen\nOn examination, there was tenderness present bilaterally in her proximal interphalangeal (PIP) and wrist joints. Upon investigations, her RA factor and anti-CCP were negative. Before this, she has never had an episode of similar joint pain. She was advised musculoskeletal ultrasound, findings of which are as follows (Figures 1 and 2 ):",
"gender": "Female"
},
{
"age": 35,
"case_id": "PMC8077721_02",
"case_text": "A 35-year-old male, healthcare worker with no prior known comorbid, presented to the rheumatology clinic with complaints of pain in multiple joints for the last 2 weeks. Six weeks earlier, the patient was diagnosed with COVID-19 infection after he had contracted exposure with an affected individual.\nGrade 2 synovitis in bilateral MCP joints\nGrade 1 synovitis in bilateral PIP joints 2 to 5\nGrade 2 synovitis in both wrists\nBilateral ankle Grade 2 synovitis\nGrade 2 synovitis in bilateral metatarsophalangeal (MTP) joints 2 and 5\nPower Doppler negative\nNo bony erosions seen\nOn examination, he had pain and tenderness in his wrist and MCP joints bilaterally. There was evidence of active inflammation (warmth, tenderness, and swelling) in both his ankle joints. His RA factor and anti-CCP turned out to be negative. Results provided by musculoskeletal ultrasound are as follows (Figures 3 and 4 ):\nGrade 1 synovitis in bilateral MCP joints 2 to 5 and Grade 1 synovitis in bilateral PIP joints 2 to 5\nGrade 1 synovitis in both wrists\nBilateral ankle Grade 2 synovitis and bilateral Achilles tendonitis\nGrade 2 synovitis in bilateral MTP joints 2 and 5\nPower Doppler negative\nNo bony erosions seen",
"gender": "Male"
},
{
"age": 25,
"case_id": "PMC8077721_03",
"case_text": "A 25-year-old female otherwise healthy, a doctor by profession, presented to the rheumatology outpatient clinic with complaints of generalized joint pains for the last 15 days, associated with morning stiffness of 40 minutes. According to the patient, she was diagnosed with COVID-19 infection 2 months back after a history of recent travel. Her pain temporarily subsided on potent analgesics. On examination, there were signs of inflammation (swelling, warmth, and tenderness) over her ankles and MTP joints bilaterally. There was also tenderness noted in her MCP and wrist joints bilaterally. Her RA factor and anti-CCP were negative. Musculoskeletal ultrasound findings are as follows (Figures 5-7 ):",
"gender": "Female"
},
{
"age": 32,
"case_id": "PMC8077721_04",
"case_text": "A 32-year-old female with no known comorbid had suffered from COVID-19 infection 2.5 months ago. She presented to the rheumatology clinic with complaints of pain in small joints of her hands for the last 6 weeks which started 2 weeks after completely recovering from her disease process. Initially, the pain was intermittent but later became continuous, associated with morning stiffness of 20 minutes, due to which she was compelled to seek medical attention.\nGrade 2 synovitis in bilateral MCP joint 2 and Grade 2 synovitis in bilateral PIP joints 2 to 5\nGrade 2 synovitis in both wrists\nPower Doppler negative\nNo bony erosions seen\nOn examination, there was tenderness and swelling in her PIP and wrist joints bilaterally. Her RA factor and anti-CCP were negative. Musculoskeletal ultrasound findings are as follows (Figures 8 and 9 ):",
"gender": "Female"
},
{
"age": 40,
"case_id": "PMC8077721_05",
"case_text": "A 40-year-old male patient who is a known case of type II diabetes mellitus on oral hypoglycemic drugs had presented to the rheumatology outpatient department after recovering from COVID-19 infection which he had encountered 1.5 months ago. His chief complaint was a pain in both his wrist joints for the past 2 weeks, more severe in the morning.\nGrade 2 synovitis in bilateral MCP joints 1-5\nGrade 2 synovitis in both wrists\nNo synovitis in any of the PIP joints\nPower Doppler negative\nNo bony erosions seen\nOn examination, there was tenderness in a few of the MCP joints bilaterally, but the wrist joint in both hands was markedly tender and swollen. RA factor and anti-CCP turned out to be negative. Musculoskeletal ultrasound was consistent with the following findings (Figures 10 and 11 ):\nAll of these 5 patients had remained clinically stable during their course of the primary disease with no event/episode of hypoxia (SPO2 > 95%). They were advised to self-quarantine and were treated by their primary healthcare physician.\nBased on clinical examination and finding of the musculoskeletal ultrasound, these patients were diagnosed as seronegative post-COVID-19 inflammatory arthritis (polyarticular) which phenotypically resembled rheumatoid arthritis. Interestingly, the specific pattern observed in these patients was the involvement (synovitis) of small joints of hands and wrist joints bilaterally which was common in all five patients. This very much resembles the clinical presentation of rheumatoid arthritis. All patients were prescribed a common treatment plan. They were commenced on low-dose tapering corticosteroid (prednisone 10 mg/d) along with etoricoxib. Amongst disease-modifying antirheumatic drugs (DMARDs), leflunomide (20 mg/d) and hydroxychloroquine (400 mg/d in 2 divided doses) were commenced. Patients were advised to follow up after three weeks.",
"gender": "Male"
}
] |
PMC8077721
|
[
{
"age": 55,
"case_id": "PMC8013978_01",
"case_text": "In April 2020, a 55-year-old female with a medical history of classical HL diagnosed on February 2011 was diagnosed with COVID-19. Patient's treatment history for HL included ABVD (doxorubicin, bleomycin, vinblastine, dacarbazine) at initial diagnosis (February 2011), IVE (ifosfamide, epirubicin, etoposide) as salvage chemotherapy for refractory disease (January 2012) followed by autologous hematopoietic stem cell transplantation (autoHCT) with BEAM (carmustine, etoposide, cytarabine, melphalan) as the conditioning regimen in September 2012. Nivolumab was administered for relapse after autoHCT (April 2016). She developed papillary thyroid cancer in January 2017 and was cured by thyroidectomy and radioactive iodine (RAI) treatment. As salvage chemotherapy, the patient also received brentuximab + bendamustine (February 2017) and GDP (gemcitabine, dexamethasone, cisplatin) (May 2017). Partial remission (PR) was achieved and in March 2018, alloHCT was performed from HLA-matched sibling donor with Fludarabine + melphelan as the conditioning regimen. The source of stem cells was peripheral blood and GVHD prophylaxis included cyclosporine combined with methotrexate. In August 2018, severe chronic graft-versus-host-disease (GVHD) with skin and liver involvement developed. Complete remission (CR) of chronic GVHD was achieved with steroid, cyclosporine, mycophenolate mofetil and methotrexate. In November 2018, she was diagnosed with EBV associated post-transplant lymphoproliferative disorder (EBV associated PTLD) and CR was obtained after eight doses of weekly rituximab. Intravenous immunoglobulin (IVIG) 400 mg/kg/day per 3 weeks was started for acquired hypogammaglobulinemia. In November 2019, the patient developed EBV viremia and was treated with rituximab, valganciclovir and foscarnet. In January 2020, relapse of HL was diagnosed with concurrent appearance of EBV viremia (EBV DNA load 34,694 copies/ml). Brentuximab 1.8 mg/kg and DLI (CD3:5 x 106/kg) every 3 weeks was initiated. He completed three cycles of brentuximab and DLI on March 2020. After three cycles, EBV DNA load decreased to 788 copies/ml and PR was obtained. In April 2020, she presented with shortness of breath and fever. She reported a five-day history of cough. On physical examination, she was pale, her body temperature was 38.3 C and she had hypoxia, with oxygen saturation as low as 88% on room air. Lung auscultation revealed fine bibasilar crackles. Chest computed tomography (CT) showed patchy peripheral bibasilar ground glass opacities in both lungs, findings compatible with severe COVID-19 pneumonia (Figure 1). Reverse transcriptase polymerase chain reaction (PCR) assay detected the presence of SARS-CoV-2 RNA in the nasopharyngeal swab. Favipravir, hydroxychloroquine, azithromycin and piperacillin/tazobactam were initiated. IVIG 400 mg/kg was administered. Her complete blood count (CBC) at admission showed the following: Hgb 10 g/dl, Htc 32%, total leukocyte count 4,320/mm3, neutrophil 520/mm3, lymphocyte 2,940/mm3 and platelet count 97,000/mm3. Prothrombin and activated partial thromboplastin time were normal. Serum ferritin level was 164 ug/L (23-336). Fibrinogen level was 548 mg/dl (normal range, 200 to 400) and D-Dimer was elevated (1.72 mug/ml; normal range, 0 to 0.5). Low-molecular-weight heparin (LMWH) was started. On biochemical tests, the following were abnormal: lactate dehydrogenase (LDH) 554 U/L (135-248), albumin 2.4 g/dl (3.4-4.5), pro-BNP 2,050 ng/L (70-133). ESR was elevated (48 mm/h; normal range, 2 to 20). C-reactive protein was elevated at 12.6 mg/L (normal range, 0-5) with normal procalcitonin level (0.13 ng/ml; normal range <0.5). During follow-up, she had worsening lymphopenia and her pro-BNP continued to increase. She was transferred to the ICU for respiratory failure and required invasive mechanical ventilation. Her chest X-ray revealed widespread bilateral alveolo-interstitial infiltrates (Figure 2). The patient succumbed to severe acute respiratory distress syndrome (ARDS) on the 6th day of admission to the ICU 10 days after initial admission to the hospital.",
"gender": "Female"
}
] |
PMC8013978
|
[
{
"age": 0,
"case_id": "PMC9555291_01",
"case_text": "The SCA diagnosis was confirmed by HBB sequencing showing homozygosity for c.20A>T and negative HBB duplication/deletion analysis, ruling out hereditary persistence of fetal hemoglobin. He was started on penicillin V potassium prophylaxis at 1 month old. Due to concern that chronic anemia would adversely impact his cardiac function, and that any SCA vaso-occlusive complications such as acute chest syndrome or splenic sequestration in infancy would be poorly tolerated, chronic red blood cell transfusion therapy was chosen as his primary disease-modifying therapy. His first transfusion was administered at 2 months of age when Hb decreased to 8.4 g/dl. His transfusion therapy goal is to maintain Hb >9.5 g/dl to minimize the physiological stress of anemia. At 2 months of life, the patient was noticed to have new-onset left ventricular dilation in addition to cardiac hypertrophy (Figure 1C). Due to concerns for a decrease in left ventricular systolic function the patient was started on enalapril to prevent cardiac remodeling.",
"gender": "Male"
},
{
"age": 0,
"case_id": "PMC9555291_02",
"case_text": "He has had 3 readmissions for respiratory decompensation due to viral infections: dual SARS-CoV-2 and respiratory syncytial virus infection at 3 months old (requiring high-flow nasal cannula), human metapneumovirus infection at 5 months old (requiring high-flow nasal cannula in the ICU setting) and rhino/enterovirus at 6 months old (requiring BiPAP in the ICU setting). At 7 months old, his outpatient ERT dosing was noted to having been based solely on birth weight, which resulted in a progressively decreasing ERT dose per kg body weight; on his most recently outpatient infusions this was ~13 mg/kg, and was corrected to 20 mg/kg. He was admitted subsequently at 7 months old due to respiratory failure with concern for an aspiration event requiring admission to the intensive care unit for non-invasive respiratory support. A repeat echocardiogram showed resolution of left ventricular hypertrophy with continuing dilation (Figure 1D). Evolution of systolic function and cardiac indices are presented in Figure 2. He has received a lifetime total of 10 pRBC transfusions at the time of this report, with a hemoglobin nadir of 7.7 g/dL. He remains gastrostomy-dependent. He continues to exhibit very low axial and appendicular muscle tone. He has required ~150-160 kcal/kg/day of enteral nutrition since birth for growth; non-etheless, he was at <1% (Z-score = -2.53, WHO Boys 0-2 years) for weight and <1% (Z-score = -3.57, WHO Boys 0-2 years) for weight-for-length at his most recent admission.",
"gender": "Male"
}
] |
PMC9555291
|
[
{
"age": 9,
"case_id": "PMC4879337_01",
"case_text": "Patient 1: A 9-year-old girl had presented at the age of 3.5 years with fever, cutaneous vasculitis and myalgia. Biological analyses demonstrated inflammation on both C reactive protein (CRP) (100 mg/L) and erythrocyte sedimentation rate (ESR) (40 mm), elevated antinuclear antibodies (ANA 1/800), a transient lupus anticoagulant, low IgM and IgA level, mild CD19 B cells, CD8 T cells and natural killer (NK) lymphopenia. Nailfold capillaroscopy showed no vessels due to a severe vasculitis. Muscle testing was abnormal with a predominant proximal muscle weakness. The creatine kinase level was normal. Muscle MRI and positron emission tomography (PET) scan revealed inflammatory lesions of the limbs (figure 1A). Muscle biopsy identified focal necrotising angiitis compatible with periarteritis nodosa.\nAt the age of 5 years, she had presented with two episodes of severe vertigo, vomiting and encephalopathy. Cerebral MRI was normal, but a cerebrospinal fluid (CSF) pleocytosis was identified (16 lymphocytes/mm3). Clinical symptoms and vertigo improved on 2 mg/kg of prednisone. Following steroid treatment withdrawal, a cutaneous vasculitis appeared, necessitating the introduction of cyclosporine. The patient then developed an ileitis and cyclosporine was switched to azathioprine.\nAt the age of 7 years, a period of 2 months of persistent headache had been followed by an encephalopathy and, a few weeks later, despite the increase of steroids, by left internuclear ophthalmoplaegia. Cerebral MRI with diffusion was again reported as normal. Treatment was changed to cyclophosphamide, but the patient then developed ataxia with right body hemiparesis, left facial paresis and aphasia, 2 months later. MRI showed gadolinium-enhancing lesions with subtle abnormality diffusion sequences suggestive of a vascular stroke (figure 1B), which was later confirmed by their evolution into lacunar lesions a few months later (figure 1C). During follow-up, the patient developed moderate hypertension. Despite immunosuppressive therapy, her pyramidal syndrome worsened and systemic inflammation persisted. After switching to anti-tumour necrosis factor (anti-TNF) therapy (etanercept), the biological abnormalities resolved, with no further evidence of disease activity 1 year later. The recent MRI showed the occurrence of another asymptomatic lacunar lesion of the internal capsule (figure 1C).\nPatient 2: The younger sister had been followed for uncharacterised microcytic anaemia since the age of 1 year, with a mild inflammatory syndrome of unknown origin. IgM and IgA levels were low, with mild CD19 B lymphopenia. ANA was positive (1/200). The patient had neither cutaneous, visceral nor muscle signs, nor fever. At the age of 3 years, she presented with a transient paralysis of the right extrinsic third cranial nerve, with persistent systemic inflammation. Cerebral MRI with diffusion sequences and CSF were normal. At the age of 5 years she presented again, with transient gait disturbance, unexplained fever and mild biological inflammation. A provisional diagnosis of viral vestibulitis was made. Cerebral MRI showed a 2 mm lacunar stroke of the internal capsule. CSF was again normal. Treatment with anti-TNF was started, associated with a rapid normalisation of the inflammation and no other symptoms over the following year.\nCECR1 sequencing revealed a heterozygous c.1358A>G; p.Tyr453Cys mutation in both siblings (figure 2A). This variant is predicted to be pathogenic by in silico analysis, and has been described previously. Furthermore, real-time quantitative PCR revealed a heterozygous deletion of exon 7 (c.973-?_1081+?del; p.Val325Thrfs*7), predicted to lead to a frameshift and truncated protein in both children (figure 2B). Parental analysis (father's genotype: c.[973-?_1081+?del];[=]; mother's genotype: c.[1358A>G];[=]) confirmed that the sisters were compound heterozygous for these two lesions.\nADA2 activity was measured on two occasions and was consistently reduced to 50% of wild-type levels in both children (figure 2C).\nIFN and neutrophil signatures were evaluated in unstimulated patient cells from whole blood samples. The expression of a panel of IFN-stimulated genes was significantly elevated in both patients (figure 3A), though for the older sister the second sampling showed no elevation of IFN-stimulated genes.\nNeutrophil-stimulated genes were not overexpressed (figure 3B). The expression of a panel of other cytokine transcripts was not significantly altered (see online supplementary figure S1).",
"gender": "Female"
}
] |
PMC4879337
|
[
{
"age": 37,
"case_id": "PMC9551989_01",
"case_text": "A 37-year-old male patient was referred to our center by his general practitioner who had incidentally found a 3.8-cm mass in the right adrenal area on computed tomography (CT) scan. The indication for a thoracic CT scan was suspicion of chronic pulmonary lesions or pulmonary embolism after a previous history of COVID-19 infection 3 months prior. Six months before the COVID-19 infection, the patient had complained of dizziness as well as chronic fatigue and profuse sweating with accentuation of symptomology over the summer of 2020 ( Figure 1 ).\nThe patient had no history of hypertension and no previous complaints. In December 2020, he was diagnosed with COVID-19 after presenting with typical symptoms, such as persistent cough, as well as headaches, concentration difficulties, and severe fatigue. He also complained further of profuse sweating and general weakness on a daily basis. He denied any medication or drug intake. On the thoracic CT scan, a right inhomogeneous adrenal mass was identified. An abdominal MRI confirmed the right inhomogeneous mass, presenting no signal loss on out-of-phase imaging, findings that raised the suspicion of a catecholamine-producing tumor ( Figure 2 ). Biochemical diagnosis revealed a raised concentration of plasma normetanephrine, and the patient was referred to our endocrine clinic for further investigation.\nClinical examination on referral to our center revealed a well-oriented, afebrile patient with normal body weight (BMI 25 kg/m2). His blood pressure was 118/74 mmHg with a pulse rate of 84/min. Cardiac examination revealed rapid but normal heart sounds with no murmurs. Abdominal examination was unremarkable.\nA 24-h blood pressure monitoring revealed normal values (122/81 mmHg daytime and 118/75 mmHg over the night). Biochemical evaluation further documented normal renal and thyroid function with normal glycemia. Hepatic enzymes were increased 2-fold. There was no evidence of hypercortisolism (morning cortisol = 402 nmol/L, ACTH 4.3 pmol/L) or primary aldosteronism (aldosterone/renin ratio 39, N < 52). The plasma concentration of normetanephrine, at 731 pg/ml, showed a more than 5-fold increase above the age-specific upper cutoff for this metabolite, while metanephrine was 30 pg/ml (N < 84 pg/ml), clearly indicating a noradrenergic PCC.\nPreoperative preparation with phenoxybenzamine was initiated followed by beta-adrenergic receptor blockade with bisoprolol. Right retroperitoneoscopic adrenalectomy was performed under general anesthesia. The patient showed an uncomplicated postoperative course and was referred to the surgical ward after 24 h of ICU monitoring. Blood pressure was stable and all antihypertensive treatment was terminated.\nHistopathological examination confirmed the diagnosis of a 4.0 x 3.6 x 2.8 cm PCC, expressing synaptophysin and chromogranin, S100-positive cells, and SDHB positivity with a mitosis rate of 1/10 HPF/2.4 mm2 with the absence of atypical mitoses. The Pheochromocytoma of the Adrenal gland Scaled Score (PASS) was 0, indicating a very low risk of malignancy.\nPostoperatively, the patient complained of right facial paresthesia as well as inguinal pain and hypoesthesia of the ventral side of the right limb and, to a less extent, on the left limb. Neurologic examination could not identify any deficits. Cerebral MRI excluded acute events such as hemorrhage or stroke ( Figure 3 ). Completeness of resection was confirmed by normalized results of plasma normetanephrine (84 pg/ml) at 1-month follow-up after surgery. Next-generation sequencing revealed no mutations in over 20 known tumor susceptibility genes, either at the somatic or germline level, including the most prominent genes such as SDHX, RET, and VHL. Postsurgical normalization of plasma normetanephrine, together with the absence of genetic mutation as well as a PASS of 0, led to no further suspicion of metastatic disease. The profuse sweating as well as the dizziness was resolved within the next 6 months after the right adrenalectomy, while the pain, hypoesthesia, and headaches remained. The patient still complained of fatigue, headaches, and loss of concentration within the next months after adrenalectomy but to a more reduced degree than previously experienced. Further neurologic examination showed again no abnormalities aside from hypoesthesia of the ventral side of the right lower limb. The lumbar MRI showed broad-based subligamentous disc protrusion L5-S1 and a slight compression of the sciatic nerve. The inguinal pain was more severe when walking, suggesting degenerative changes in the sacroiliac joint. In the pelvic MRI, there was evidence of a rheumatic inflammatory genesis with slight edema ventrocaudal at the sacroiliac joint.",
"gender": "Male"
}
] |
PMC9551989
|
[
{
"age": 55,
"case_id": "PMC6120592_01",
"case_text": "A 55-year-old woman was admitted to the neurocritical care unit with a large left thalamic intracranial hemorrhage with intraventricular extension after found down by her husband. Her past medical history was significant for diabetes mellitus, hypertension, ovarian cancer, hysterectomy, and oophorectomy. On initial presentation she was afebrile, tachycardic, hypertensive (237/98), and neurological exam was positive for left gaze preferences, inability to follow commands, and lack of spontaneous movement of her right lower extremity. She was intubated secondary to obtundation and inability to protect her airways. Her neurological status began to stabilize within four days, but her ICU course was complicated by failed extubation trials.\nAfter initially being intubated for a period of 10 days, she failed extubation and was reintubated twice due to stridor and increased respiratory effort. The otolaryngology head and neck service performed laryngoscopy which revealed pyriform sinuses with copious secretions, erythematous and edematous arytenoids, mildly edematous vocal cords with a shallow ulcer, and bilateral vocal cord paresis with 2 mm glottic gap. She was given dexamethasone 24 mg for 24 h and a 3-day course of methylprednisone. Three days later, the patient was taken to the OR for placement of a tracheostomy tube. Fibrinoid material was seen along the posterior glottis and palpation of vocal processes showed them to be immobile. Biopsies taken during the procedure revealed ulcerative herpes laryngitis with pathology showing large multinucleated cells with atypia under the ulcerated epithelium (Fig. 1), and strong positive HSV immunostaining (Fig. 2). Patient was started on a two-week treatment course of acyclovir 5 mg/kg IV every 8 h, similar to successful regimens in reported literature. Three days later, chest CT revealed bibasilar opacities consistent with aspiration, and the patient was noted to have erythema of the anterior neck and brownish drainage emanating from underneath her tracheostomy tube. Both conditions resolved after treatment with ampicillin/sulbactam and piperacillin/tazobactam and our patient was discharged for acute rehabilitation two weeks later.",
"gender": "Female"
}
] |
PMC6120592
|
[
{
"age": 25,
"case_id": "PMC4879802_01",
"case_text": "A full term female neonate born out of a nonconsanguineous marriage by cesarean section (indication-previous cesarean section with polyhydramnios) to a 25-year-old (weight - 58 Kg, height - 155 cm) booked G3P1L1A1 with unremarkable antenatal history. There is no significant history of drug intake. Family history revealed that the father has radial ray deformity of left upper limb without any cardiac anomaly.\nPhysical examination revealed an active baby weighing 2790 g and length of 49 cm, heart rate of 146/min, blood pressure of 70/30 mm of Hg, respiratory rate of 40/min, and systemic oxygen saturation of right upper limb being 83% in room air and that of right lower limb being 74% in room air [Figure 1]. On musculoskeletal examination, left upper limb shortening was noticed with absent radius bone, radial flexion deformity of the wrist and also absent thumb [Figure 2]. Triphalangeal thumb was seen in the right upper limb [Figure 3]. No obvious deformities were noticed elsewhere. On cardio-vascular system examination, the pansystolic murmur of grade III at the mitral and left parasternal area was heard. Per abdominal and respiratory system examination was within normal limits.\nOn further investigation, chest X-ray showed normal thoracic situs with cardiomegaly, plain radiograph of both upper limbs revealed absent radius on left side with absent carpal bones and absent first metacarpal bone and phalanges (thumb), right side showing absent carpal bones and triphalangeal thumb [Figure 4]. No obvious bony deformities elsewhere were noted.\nThe baby developed cyanosis couple of hours after delivery, following which an ECG was done which was normal and a 2D echocardiography was done which revealed severe aortic atresia with hypoplastic arch, large perimembranous VSD and ASD as well [Figure 5]. These findings were confirmed by coronary angiography. The neonate was referred to a cardiac center for further management, however due to lack of resources the baby died on day 4 of life.",
"gender": "Female"
}
] |
PMC4879802
|
[
{
"age": 38,
"case_id": "PMC9622464_01",
"case_text": "A 38-year-old male was referred to an Australian tertiary hospital for consideration of systemic treatment of confirmed human monkeypox (MPX) infection, with suspected ocular involvement. He presented with painful anogenital and upper and lower limb vesicular lesions, arthralgia, fevers, and bilateral inguinal lymphadenopathy. Ten days after the onset of the initial symptoms, he developed conjunctival injection of his right eye with associated epiphora, foreign body sensation and intermittent blurring of vision. He had recently returned from overseas where he had engaged in unprotected anal and oral sex with other men. Past medical history included depression and regular medications were duloxetine and HIV pre-exposure prophylaxis. A recent sexually transmitted infection screen was negative. He had no previous ophthalmic history.\nOn examination, the visual acuity was 6/6 unaided in both eyes (Snellen chart). Intraocular pressures measured 11 mmHg in the right eye and 12 mmHg in the left eye. Slit lamp examination of his right eye revealed upper and lower lid edema and erythema, and conjunctival hyperaemia without tarsal papillae or follicles, consistent with blepharoconjunctivitis. A small vesicle at the medial canthus of the lower lid was present (Fig. 1). The cornea demonstrated minimal superficial punctate epithelial erosions but was otherwise clear. There was no intraocular inflammation. Dilated fundus examination was normal. Examination of the left eye was unremarkable.\nA dry swab was taken from the conjunctiva and the medial canthal vesicle of the right eye, which returned a positive result for MPX virus DNA on polymerase chain reaction (PCR). In consultation with public health officials, the patient was treated by infectious disease physicians with systemic oral tecovirimat 600 mg twice a day for two weeks. Ocular involvement contributed to the decision to use tecovirimat. Ophthalmic treatment was with preservative free lubricating eye drops (carmellose sodium 0.5%) six times a day and as required, and a lubricating ointment (paraffin + retinol palmitate 135 mcg/g) at night. Prophylactic antibacterial cover was provided with topical chloramphenicol drops 0.5% four times a day. At one week review he had complete resolution of ocular symptoms and clinical signs (Fig. 2).",
"gender": "Male"
}
] |
PMC9622464
|
[
{
"age": 61,
"case_id": "PMC3678502_01",
"case_text": "A 61-year-old right-hand-dominant mechanic was examined for a recurrent thumb lesion present for approximately 5 years. The patient has no history of trauma to the thumb. Over the past 4 years, he was unsuccessfully treated with multiple courses of antibiotics and antifungals, one partial nail plate excision, and one complete nail plate excision for presumed chronic paronychia. The thumb lesion bled intermittently was painful to pressure, scaly, and consumed the lateral eponychial fold. His examination was otherwise unremarkable.\nAfter a thorough history and examination, what is your differential diagnosis?\nWhat will you do to work up this lesion to determine the correct diagnosis?\nWhat anatomic feature of the nail bed should raise concern for involvement of underlying structures?",
"gender": "Male"
}
] |
PMC3678502
|
[
{
"age": 47,
"case_id": "PMC5820864_01",
"case_text": "A 47-year-old previously healthy male presented to our Emergency Department with complaints of 1 week of progressive headaches and 3 days of dizziness, unsteady gait, nausea, and emesis. He reported no history of head trauma. There patient was not on any anticoagulants or antiplatelet. On admission, his neurological exam was unremarkable. A computed tomography (CT) of the brain demonstrated a large left-sided SDH with significant mass effect and midline shift. Magnetic resonance imaging (MRI) demonstrated a separate collection along the left sphenoid wing of the lateral ventricle, consistent with an AC with intracystic blood and surrounding SDH [Figure 1]. Craniotomy and evacuation of the SDH and intracystic hemorrhage were performed. Upon opening the dura, acute, and subacute SDH was visualized. A middle cranial fossa AC with significant hemorrhage and a small hole communicating with the subdural space was visualized. [Figure 1]. Postoperative CT demonstrated interval improvement in midline shift following the evacuation of the hematoma [Figure 1]. The patient was discharged home and was neurologically intact at follow-up with complaints of occasional left-sided headaches.",
"gender": "Male"
}
] |
PMC5820864
|
[
{
"age": 66,
"case_id": "PMC6178910_01",
"case_text": "A 66 year old African-American male presented to the Emergency Room (ER) complaining of a 2-hour history of chest pain. Chest pain was described as left-sided, non-pleuritic, non-radiating, retrosternal, squeezing in character and persistent. Pain was reported as 9 on a 10-point pain scale and relieved by taking 0.4mg tablet of nitroglycerin sublingually. It was associated with shortness of breath, dizziness and sweating, but the patient denied loss of consciousness, cough, palpitation or swelling of the extremities. He denied any use of illicit substances. A week prior to this hospitalization he presented to the hospital with a similar complaint. At that time, chest pain was relieved by 325mg dose Aspirin taken orally; troponin was normal and EKG did not show any significant change from baseline. His echocardiogram was also normal and he was discharged with scheduled outpatient stress test. Medical history was significant for poorly-controlled diabetes type 2, hypertension, dyslipidemia and obesity.\nOn this visit, his pulse rate was 84 beats per minute; BP 119/66 mm/Hg; respiration rate 16 breaths per minute and his oxygen saturation was 98% on room air. Initial troponin was elevated at 0.19ng/ml (reference 0.00 - 0.05ng/ml); hemoglobin of 14.4g/dl (reference 13-17g/dl) and platelet count of 210 x 10 3/ul (reference 130-400 x 10 3/ul).\nEKG showed deep T wave inversions in leads V1-V6 and the inferior limb leads ( Figure 1). We assumed an assessment of non-ST elevation myocardial infarction and a loading dose of Aspirin (325 mg) and Plavix (300 mg) were given orally in the ER along with Atorvastatin (80 mg) and a weight-based dose of Enoxaparin. Repeat troponin 6 hours later was 1.05. Cardiac catheterization revealed normal coronaries ( Supplementary file 1). While the patient was still lying on the cardiac cath table, his oxygen saturation dropped to 91%. There was no chest pain, tachypnea or tachycardia at this time. Supplemental oxygen at 2l/min via nasal cannula improved saturation to 97%. A repeat EKG showed a Q 3T 3 pattern in lead III ( Figure 2). In view of these new findings (low oxygen saturation and a change in the EKG pattern), a computerized tomography of the chest with angiogram (chest CTA) was ordered. This revealed a saddle pulmonary embolus which extended into the right and left pulmonary arteries and involved all lobar branches of the pulmonary arteries ( Figure 3).\nTreatment was continued with Enoxaparin (100mg subcutaneously every 12 hours) for 6 days, at which time he became stable and maintained oxygen saturation above 96% even when supine. He was discharged on Apixaban (10mg po bid for 7 days followed by 5mg po bid) with plan to complete 3 months of therapy. Follow up visits were scheduled with the Cardiology and Hematology clinics.",
"gender": "Male"
}
] |
PMC6178910
|
[
{
"age": 67,
"case_id": "PMC5723361_01",
"case_text": "A 67 year old diabetic lady presented with left groin pain for three weeks off and on associated with fever to the Orthopedic Clinic at the Aga Khan University Hospital, an academic tertiary care hospital in Karachi, Pakistan. She underwent un-cemented unipolar hemiarthoplasty of the left hip 8 years back. On examination, she was unable to elicit active movements at left hip. Personal and family history was negative for tuberculosis and wound infection at the index hip surgery. There was no relevant drug, family and genetic and psychosocial history.\nLab workup was done which showed raised serum infective markers. White cell count was 11.9 x 109/L, erythrocyte sedimentation rate was 118 mm/h (0-20) and CRP was 13.45 mg/dl (0-0.5). Urine culture was negative. Chest radiograph was normal. Hip radiographs demonstrated uncemented unipolar left hip arthroplasty with no evidence of any radiolucency or prosthetic loosening (Fig. 1). Moderate degenerative changes were found on radiograph of lumbosacral spine more marked at L4-L5 and L5-S1 level. Ultrasound of hip joint was performed before proceeding with surgery. Two ml pus was aspirated and culture showed growth of E. coli. Due to left groin pain, markedly elevated ESR and CRP and positive culture from hip aspiration, patient was planned for left hip arthrotomy. The surgery was performed by a consultant orthopaedic surgeon. The previous Moore approach was used for left hip arthrotomy. Hip joint appeared normal and implant was noted to be well fixed. Clear fluid was noted in hip joint at the level of psoas muscle. Pus was debrided at the lesser trochanter. Tissue sample was sent for culture and sensitivity which showed E coli and histopathology reported with psoas abscess. Computed tomography scan of abdomen was performed showing bilateral perinephritic fat standing with dilated ureters suggestive of Pyelonephritis (Fig. 2).\nPatient was seen by infectious disease service. Patient tolerated the procedure well and there were no postoperative complications. Post operatively she was started on antibiotics which were continued for three months. She was mobilized weight bearing as tolerated with support postoperatively.The range of motion was restored with normal gait, initially ambulating with support followed by progressive improvement in her range of motion to 70 flexion, 30 abduction, 10 internal rotation and 15 external rotation within two weeks.\nESR and CRP returned to normal limits. Twenty months later, she remains asymptomatic without evidence of infection.",
"gender": "Female"
}
] |
PMC5723361
|
[
{
"age": 43,
"case_id": "PMC2732509_01",
"case_text": "On June 30, 2001, a 43-year-old woman (the patient with the index case), living in Kosovska Mitrovica, Kosovo, became severely ill and was admitted to the hospital with high fever, headache, nausea, generalized myalgia, and disorientation. Two days later her condition rapidly deteriorated; bleeding from the gastrointestinal tract, she was transferred to the Institute for Tropical and Infectious Diseases in Belgrade, where she died a few hours after admission.\nBlood cultures were negative for bacterial pathogens. C-CHF and hemorrhagic fever with renal syndrome (HFRS) were suspected, considering the clinical picture of the patient and the epidemiology of the diseases in this geographic area. A serum sample collected before death was tested for immunoglobulin (Ig) G and IgM specific for a variety of microorganisms (including hantaviruses, rickettsiae, and leptospira) by enzyme-linked immunosorbent assay and indirect immunofluorescent assay (IFA). No specific antibodies were detected.\nTo detect C-CHFV antibodies, the patient's serum was tested in twofold dilutions (initial dilution 1:8) with fluorescein-labeled goat anti-human immunoglobulin (Gibco-BRL Diagnostics, Madison, WI) on spot slides containing Vero E6 cells (ATCC CRL 1586), with approximately 50% of the cells infected with the prototype Nigerian C-CHFV strain (IbAr 10200). Titers were recorded as the greatest dilution of serum at which characteristic cytoplasmic immunofluorescence is detected. No specific antibodies were detected.",
"gender": "Female"
},
{
"age": 38,
"case_id": "PMC2732509_02",
"case_text": "On July 6, the 38-year-old physician who had intubated the index patient when she was admitted became severely ill, with high fever, asthenia, petechiae, exanthema of soft palate, pneumonia symptoms, leukopenia, and thrombocytopenia (leukocyte count: 3x109/L; erythrocyte count: 80x109/L). No evidence of disseminated intravascular coagulation was observed.\nTo detect antigen in the secondary patient's serum, the immunoprecipitation procedure was used. Patient's serum sample and sera from known C-CHF-positive patients, as well as hyperimmune human gamma globulin against C-CHFV, were placed in the wells in agar plates and left overnight to diffuse; precipitin lines were formed where the concentration of the antigen and antibodies was serologically equivalent.\nWe extracted viral RNA from serum and whole blood samples from both patients. Complementary DNA was amplified by nested polymerase chain reaction (PCR) by using primers from the small (S) RNA segment of C-CHFV. We found a specific 260-bp band in both cases. Nucleotide sequence analysis was performed by using the OpenGene automated DNA sequencing system (Visible Genetics Inc., Toronto, Canada). As expected, the two sequences were identical. We compared the resulting sequences with those available in the GenBank database using the BLAST tool (available from: URL: http://www.ncbi.nlm.nih.gov/BLAST/). We observed a similarity to C-CHFV S segment sequences.\nSince strong evidence exists that ribavirin is effective for treating C-CHF, oral ribavirin was given to the second patient (800 mg three times on day 1, followed by 600 mg three times a day for the next 11 days). He responded successfully and, after 48 hours, became afebrile; his hematologic and biochemical parameters returned to normal. No side effects of ribavirin were present. On July 10, low titers (1:64) of IgM antibodies were detected, while on July 16, high titers (1:2,048) of IgG antibodies were detected in patient's serum samples.\nThe patient was placed in isolation, and all personnel wore protective clothing, such as gowns, masks, and gloves. All contact persons in the hospital were informed and advised to contact a physician if any symptoms occurred. No additional persons became ill. Samples taken from the driver and the nurse who transferred the woman from the local hospital to Belgrade were tested by IFA for the presence of antibodies to C-CHFV and were found negative, even a month after the woman's death.\nWhole blood of both C-CHF cases (10% suspension in phosphate-buffered saline) was injected separately into 25-mL flasks containing Vero E6 cells. The cells were checked for C-CHFV antigen by immunofluorescence assay with hyperimmune human globulin against C-CHFV (strain Hodja). Positive cells were detected in both flasks on the 6th day after injection. The supernatant of the cells was used to infect fresh E6 cultures, and the virus was passaged six further times. We designated the virus from the fatal C-CHF case as C-CHFV/Kosovo/9553/2001, and the virus from the infected physician as C-CHFV/Kosovo/9717/2001.\nExtraction of viral RNA of cell culture supernatants, amplification, and phylogenetic analysis showed that the obtained sequences were identical to each other and to the sequences amplified from the clinical samples. The nucleotide sequences were submitted to GenBank and assigned accession numbers AF428144 (for the index case) and AF428145 (for the secondary case). Phylogenetic analysis showed that these sequences clustered together with Drosdov strain (a C-CHFV strain isolated from blood of a patient in Russia), differing from it by 4%, while the genetic difference from the prototype C-CHFV Nigerian strain IbAr 10200 was 17% (Figure).",
"gender": "Female"
}
] |
PMC2732509
|
[
{
"age": 37,
"case_id": "PMC6010925_01",
"case_text": "A 37-year-old Iranian male patient was admitted to the Shohadaye Ashayer Hospital, Khorramabad, Iran, in 2016 with the complaints of weakness, anorexia, fatigue, weight loss along with fever and chills. The fever was dramatically exacerbated at nights and it was accompanied with sweating, dyspnea, and nonbloody sputum. The patient had been bothered by anal pain and discharge. The symptoms had started 7 days prior to his referral to the hospital. The patient added that all of the above-mentioned symptoms emerged a week (2 weeks before his referral to the hospital) after he had undergone anal fistula surgery and pilonidal sinus surgery due to rectal bleeding that had lasted for 9 months. He had also lost weight up to 12 kg over the previous 5 months. He had received antimicrobials and analgesia in the aftermath of his anal surgery, including metronidazole, ciprofloxacin and acetaminophen. The patient had a history of smoking, opium use and IV drug injection. Historically, he was not known to be immunocompromised and had no close contact with a case of tuberculosis.\nOn physical examination, he was fully alert and conscious and could actively participate in a conversation. His vital signs were as follows: temperature: 37.9C, heart rate: 86 beats/min, blood pressure: 100/70 mm/Hg, and respiratory rate: 18 breaths/min. In general, he seemed well. Thoracic and abdominal examinations were completely normal, respiratory and cardiac sound were normal and jugular venous pressure was not raised, nor was any lymphadenopathy detected. On the examination of the anus, anal erythema and swelling as well as discharge near the site of surgery were observed.\nStandard blood tests are shown in Table 1. A PPD was negative. He was found be HIV antibody positive as well as anti hepatitis C positive. Chest X-ray did not reveal any abnormalities and the CT of the chest was also negative. The CT scan of the abdomen/pelvis with contrast revealed thickening of the rectum (Fig. 1). A colonoscopy revealed grade 2 internal hemorrhoids, many small aphthous ulcers in the rectum and normal sigmoid and descending colon (Fig. 2, Fig. 3). An AFB stain of the ulcers was negative. The biopsy showed chronic granulomatous proctitis (Fig. 4). Staining was positive for acid fast bacilli. The patient was then begun on standard four drug therapy for TB. The cultures for TB were positive and his symptoms and lesions healed.",
"gender": "Male"
}
] |
PMC6010925
|
[
{
"age": 13,
"case_id": "PMC6449812_01",
"case_text": "A 13-year-old female spayed domestic shorthair (DSH) cat was presented for polyphagia, polyuria and polydipsia (PUPD) and weight loss (day 1). The cat weighed 4.3 kg (body condition score 4/9) and had lost 1 kg in body weight over the previous 6 months. A grade II/VI left parasternal systolic murmur was auscultated, the haircoat was unkempt with a heavy flea burden and the abdomen appeared mildly pendulous. Six weeks previously, the cat had presented with pollakiuria and polydipsia. Bacterial cystitis due to Escherichia coli was diagnosed and pollakiuria resolved after a single dose of cefovecin subcutaneously (8 mg/kg) (Convenia; Zoetis). At that time, there was mild azotaemia (creatinine 187 micromol/l and urea 11.46 mmol/l; reference intervals [RIs] 90-180 micromol/l and 7.2-10.7 mmol/l, respectively) and hypokalaemia (3.1 mmol/l; RI 4.0-4.6 mmol/l), and urine specific gravity (USG) was 1.014.\nHaematology results on day 1 were within the RIs. Abnormalities on serum biochemistry included hypokalaemia (3.1 mmol/l; RI 3.7-5.4 mmol/l), metabolic alkalosis (bicarbonate 25 mmol/l; RI 12-24 mmol/l) and elevated creatinine kinase (CK; 5569 IU/l [RI 64-400 IU/l]). Urea (9.1 mmol/l; RI 5.0-15.0 mmol/l), creatinine (110 micromol/l; RI 80-200 micromol/l) and symmetrical dimethylarginine (8 microg/dl; RI 0-14) were not elevated. Primary hyperaldosteronism was suspected owing to the presence of PUPD, weight loss, persistent hypokalaemia, metabolic alkalosis and elevated CK. Further investigation, including systolic arterial blood pressure (SABP) measurement, abdominal ultrasonography and plasma aldosterone:renin measurement were recommended.\nTwo days later (day 3), the cat re-presented with marked cervical ventroflexion and was mildly dehydrated (body weight 4.23 kg). SABP (Doppler method) was 150 mmHg and fundoscopy was unremarkable. On urinalysis, USG was 1.015 and urine sediment was benign. Blood was collected for basal aldosterone, progesterone and renin assays. On abdominal ultrasonography the right adrenal gland was enlarged, rounded and discrete (19 mm diameter) (Figure 1). The left adrenal gland appeared normal (cranial pole height 3.4 mm, caudal pole height 3.5 mm, length 11 mm).\nThe cat was hospitalised (day 3) and treatment was commenced with spironolactone (6.25 mg PO q24h) and potassium gluconate (4 mmol PO q12h). Intravenous fluid therapy (IVFT) was not administered owing to financial constraints and the cat ate on admission to hospital. However, on day 4, weakness and dehydration worsened (body weight 4.1 kg). Despite a stable packed cell volume (PCV; 0.30 l/l [RI 0.30-0.45]), total serum protein (TSP) increased (90 g/l; RI 39-78 g/l), hypernatremia developed (167 mmol/l; RI 147-156 mmol/l) and hypokalaemia worsened (2.9 mmol/l; RI 4.0-4.6 mmol/l). SABP was also elevated at 180 mmHg. Crystalloid IVFT (Hartmann's solution) at 13 ml/h and potassium chloride (KCl) at 0.4 mmol/kg/h IV was commenced. Spironolactone was continued and potassium gluconate was increased to 4 mmol PO q4h. After 4 h, potassium was 3.9 mmol/l and KCl supplementation was reduced to 0.13 mmol/kg/h IV.\nOn day 5 body weight had increased by 400 g, and the cat became tachycardic (heart rate 260 beats/min) and tachypnoeic (respiratory rate 60 breaths/min). Initially, fluid overload was suspected. However, on physical examination several hours later mucous membranes were pale, PCV (0.13 l/l) and TSP (52 g/l) had decreased markedly, and SABP was 150 mmHg. Serum potassium was 3.6 mmol/l and sodium was 160 mmol/l. Acute haemorrhage from the adrenal mass was suspected. Repeat abdominal ultrasonography revealed a new 5 cm diameter heterogeneous area, in the right retroperitoneal space adjacent to the enlarged right adrenal gland (17 mm diameter). Free fluid was also present in the right retroperitoneal space, and there was scant free fluid between liver lobes. These findings were consistent with a periadrenal haematoma and haemorrhage into the retroperitoneal space and peritoneal cavity. Possible causes were considered to be rupture of the mass or neoplastic invasion of adrenal vessels with erosion of the vessel wall. There was no evidence of coagulopathy - prothrombin and partial thromboplastin times and platelet count were within the RIs.\nBlood typing was performed (Quick Test; Alvedia Veterinary Diagnostics) and the cat was blood type B, for which no immediate donor was available. Supportive therapy with IVFT, KCl and spironolactone were continued, and the flea burden was treated with nitenpyram 11.4 mg PO (Capstar; Novartis), then topical imidacloprid (Advocate; Bayer). From days 6 to 8 the cat was clinically stable, cervical ventroflexion resolved, polyphagia returned, SABP ranged from 110-140 mmHg, PCV and TSP increased to 17 l/l and 75 g/l, respectively, and the median serum potassium was 3.8 mmol/l.\nResults of endocrine testing confirmed hyperaldosteronism and hyperprogesteronism; plasma aldosterone was 38,100 pmol/l (RI 60-980 pmol/l), plasma renin activity was 422 fmol/l/s (RI 130-2350 fmol/l/s) and the aldosterone:renin ratio was markedly increased (69.9; RI 0.4-1.5). Basal progesterone was also elevated (30.6 nmol/l; RI <2.0 nmol/l).\nOn day 8, a blood type B donor was sourced, and 52.5 ml of whole blood was administered preoperatively. On day 9, preoperative PCV was 0.28 l/l, potassium was 3.8 mmol/l, sodium was 153 mmol/l and SABP was 145 mmHg. CT of the abdomen and thorax was performed under general anaesthesia. There was ventral displacement and compression of the caudal vena cava by the right adrenal mass and no evidence of vena caval invasion or tumour thrombi. There was a large, localised right retroperitoneal effusion with marked mass effect and no evidence of abdominal or thoracic metastases (Figure 1). At surgery to remove the right adrenal gland (Figure 1), via a ventral midline approach, a haematoma (45 mm diameter) was observed in close proximity to the right adrenal gland, just ventral to the caudal vena cava.\nAnalgesia consisted of a ketamine constant rate infusion (CRI; 0.5 mg/kg/h IV) and methadone (0.1 mg/kg IV q4h). A hydrocortisone CRI (0.5 mg/kg/h) was administered to manage a potentially hypofunctional left adrenal. Within 8 h postoperatively the cat was eating, and serum potassium was 4.2 mmol/l. On day 11, spironolactone, hydrocortisone and IVFT were ceased and oral prednisolone (1.25 mg q24h) was prescribed until day 50. On day 14 PCV was 0.26 l/l and TSP was 74 g/l. Oral potassium was tapered and ceased on day 15. No further electrolyte abnormalities were documented. The cat was discharged from hospital on day 16.\nHistopathology revealed an adrenal adenocarcinoma (ACC) with no evidence of vascular invasion. The periphery of the mass was necrotic and considered the likely site of the haemorrhage. There was no haemorrhage within the tumour.\nAt rechecks 5 weeks postoperatively body weight, gait, posture, vital signs and serum potassium were normal, and anaemia had resolved. At a recheck 8 months postoperatively the cat was reported to be in good health by the owner, body weight was stable (4.3 kg) and SABP was 160 mmHg, but International Renal Interest Society (IRIS) stage 2 chronic kidney disease (CKD) was diagnosed (urea 10.01 mmol/l [RI 7.2-10.7 mmol/l], creatinine 181 micromol/l [RI 90-180 micromol/l], USG 1.018).",
"gender": "Female"
},
{
"age": 13,
"case_id": "PMC6449812_02",
"case_text": "One of the authors (VRB) was presented with a similar case in 2003. A 13-year-old male castrated DSH collapsed acutely indoors one evening, preceded by vomiting once. The cat vocalised continuously after the event, and appeared to be in pain when picked up by its owner, a veterinary nurse. The cat had a history of polyuria, polydipsia and weight loss for several months beforehand.\nOn clinical examination, the cat was hypothermic (37.0 C), tachycardic and had pale mucous membranes. The cat was stabilised with crystalloid IVFT overnight. On presentation at referral several days later the cat had a body condition score of 3/9, pale mucous membranes and was tachycardic with a IV/VI parasternal systolic heart murmur, SABP of 220 mmHg and normal fundoscopy. Abnormalities on haematology and biochemistry included a PCV of 18 l/l, TSP of 59 g/l, serum potassium of 2.17 mmol/l (RI 3.7-5.4 mmol/l), creatinine 468 micromol/l (RI 9-190 micromol/l) and a USG of 1.021. Plasma sodium was within the RI (149 mmol/l; RI 144-157 mmol/l). Abdominal ultrasonography confirmed the presence of an irregular, large right adrenal mass, which measured 5 x 2.7 cm diameter at the largest dimension and displaced the caudal vena cava to the right side. Partial attenuation of the caudal vena cava was assessed to be a consequence of haematoma formation at the site of the adrenal mass, although invasion of the caudal vena cava could not be excluded. Thoracic radiographs were unremarkable.\nSpironolactone (6.25 mg PO q24h) and amlodipine (1.25 mg PO q24h) were commenced. Serum aldosterone was elevated (1916 pmol/l; RI 60-980 pmol/l), renin activity was 0 fmol/l/s; RI 130-2350 fmol/l/s), and a diagnosis of hyperaldosteronism was confirmed. An exploratory ventral midline celiotomy was performed 1 week later. The cat was blood typed (type A [Rapid-H; DSM Laboratories]) and given a 50 ml type A blood transfusion preoperatively. At surgery the right adrenal mass was adherent to, but not invading, the vena cava. A right adrenalectomy was performed. The adrenal mass contained a large amount of intratumoral haemorrhage and necrosis on cut section (Figure 2). Histological examination confirmed an ACC arising from the zona glomerulosa with extensive intratumoral necrosis and haemorrhage. The cat recovered well postoperatively.\nAt a recheck examination 9 months later, the PCV was 32 l/l, TSP was 75 g/l and the cat was diagnosed with IRIS stage 3 CKD. It lived for approximately 18 months after surgery.",
"gender": "Male"
}
] |
PMC6449812
|
[
{
"age": 0,
"case_id": "PMC4005093_01",
"case_text": "A 2-day-old, term female neonate, presented with a U-shaped cleft of the upper half of the sternum, with central area of ulcerated area of overlying skin through which pulsating heart was visible (Fig. 1). There was no history of maternal infection or medication during early pregnancy. Dimensional and Doppler echocardiography showed a sternal cleft, PDA, ASD, and a normal aortic arch. Abdominal ultrasonography was normal. The patient underwent surgery at 3rd day of life. The necrotic fibrous tissue (ACC) on the sternal cleft area was completely resected without opening the pericardium. Fasciocutaneous flaps were raised on either sides and both sternal bars were approximated with 2/0 PDS and covered by fasciocutaneous flaps.\nAfter 8 months, she was readmitted because of the severe respiratory distress and stridor. On examination, there was a hemangioma involving the lower lip, oral mucosa, and right parotid region. Urgent spiral CT-scan of head and neck revealed subglottic hemangioma. A tracheostomy was performed to relieve the respiratory distress. She underwent laryngoscopy and bronchoscopy a week later and subglottic hemangioma was treated by KTP532 laser. Tracheostomy tube was removed subsequently. She had no respiratory distress or subglottic hemangioma at four year follow-up (Fig. 2).",
"gender": "Female"
}
] |
PMC4005093
|
[
{
"age": 45,
"case_id": "PMC9082205_01",
"case_text": "A 45-year-old woman with FMD and essential hypertension was referred to ophthalmology clinic for 3 weeks of decreased vision in her right eye. She was previously diagnosed with FMD after presenting to the emergency room 12 years prior with a headache and left-sided paresis and was found to have a right internal carotid dissection and right middle cerebral artery occlusion. A four-vessel arteriogram of the head demonstrated multifocal narrowing of the right vertebral artery consistent with a diagnosis of FMD. Renal ultrasound and MRA did not show involvement of the renal vasculature. Her severe hypertension was treated with an angiotensin-converting enzyme (ACE) inhibitor and monitored by her primary care provider. One week prior to presentation to ophthalmology, the patient was found to be mildly hypertensive to 144/80. Three weeks prior to presentation to our ophthalmology clinic, the patient had been seen by an outside provider who documented elevated intraocular pressure (IOP) of 34 mmHg and 26 mmHg in the right and left eyes, respectively. She was treated with brimonidine and referred to our clinic.\nOn examination at our clinic, the patient had best-corrected visual acuity of 20/60 in her right eye and 20/25 in her left with IOP of 15 mmHg and 13 mmHg in the right and left eyes, respectively. Extraocular movements and confrontational fields were normal. Pupillary response was sluggish, but no afferent pupillary defect was noted. Her anterior segment exam was normal. Dilated fundus exam of the right eye revealed disc edema, flame hemorrhages radiating from the optic disc extending into the midperiphery, diffuse dot-blot hemorrhages, and tortuous, engorged retinal veins (Fig.1). Fluorescein angiography identified delayed arterial filling and late optic disc staining (Fig.2). Optical coherence tomography (OCT) revealed intraretinal cysts and subretinal fluid with distortion of the foveal contour (Fig.3). Her left eye showed no evidence of retinopathy or abnormalities in fluorescein angiography or OCT.\nThe patient was diagnosed with CRVO and received intravitrealbevacizumab. Over the next year, the patient received monthly bevacizumab injections with resolution of her macular edema and improvement of her vision to 20/40 in the right eye. She then chose to switch to aflibercept for ongoing therapy. She was referred to a glaucoma specialist and started on latanoprost with adequate IOP control. Her primary care physician also reinitiated an ACE inhibitor for blood pressure control.",
"gender": "Female"
}
] |
PMC9082205
|
[
{
"age": 66,
"case_id": "PMC5635244_01",
"case_text": "A 66-year old female housewife (BMI: 24.1 kg/m2), from a remote city of Pakistan, presented to the surgical OPD with the presenting complaint of intermittent flank pain for the past two years with a history of recurrent renal stones. She had undergone a percutaneous nephrolithotmy (PCNL) 14 years back for nephrolithiasis secondary to calcium oxalate stones. She later had a right extracorporeal shock wave lithotripsy (ESWL) for a residual stones 2 years ago. CT scan of the kidneys showed non-obstructing bilateral renal calculi along with cholelithiasis in the gall bladder. Patient also had multiple gastroenterology clinic visits with the complaints of postprandial bloating and recurrent oral ulcers. Bone densitometry showed marked osteopenia. Her serum calcium level was found elevated at 12.6 mg/dl. The constellation of her symptoms and the elevated calcium levels warranted further workup. Serum PTH was 403 pg/ml (16-87) and serum phosphorus was 2.2 mg/dl (2.5-4.5) respectively; she was diagnosed with primary hyperparathyroidism, aka, PTH dependent hyperparathyroidism causing malignant hypercalcemia. In order, to rule out the possibility of parathyroid adenoma, a high resolution CT scan of chest and neck where carried out, but, there was no abnormal enlargement of the parathyroid gland present, however, 99mTc-MIBI scintigraphy scan was done that showed a well defined area of abnormal tracer deposition in anterior mediastinum just below the manubriosternal junction confirming the diagnosis of mediastinal ectopic PA, furthermore, parathyroid adenomas were outlined over lower pole of right thyroid in anterior mediastinum as well. (Fig. 1a and b).\nPre-operatively, injection pamidronate was administered three week prior to surgery. Repeat chemistry showed a serum calcium level of 10.2 mg/dl. She, subsequently, underwent VATS where right lower parathyroid tissue was identified and excised. The histopathology report established parathyroid parenchyma composed of chief and oxyphil cells with intervening fibroadipose tissue. There was no evidence of malignancy. The ectopic PA was excised as a whole from anterior mediastinum just behind the sternum and right inferior parathyroidectomy was also carried out. Postoperatively, serum calcium level was repeated every 12 hourly and calcium with vitamin D supplements were administered. Follow up chemistry panel showed a serum calcium in decreasing trend from 9.2-8.2 mg/dl. Her PTH levels also remarkably dropped to 23 pg/dl. She had a complete recovery. Upon return to clinic her serum calcium level and PTH level were found within the normal ranges; 8.9 mg/dl and 86.90 pg/dl respectively. Post operative MR imaging also showed no residual tumor. Patient remained asymptomatic at 6 month follow up as well.",
"gender": "Female"
}
] |
PMC5635244
|
[
{
"age": null,
"case_id": "PMC8685438_01",
"case_text": "This study enrolled 10 patients with ICI-related cardiac cardiotoxicity who were admitted to the hospital between January 1, 2018, and August 30, 2021. The detailed descriptions of each case are provided in the Supplementary Materials, and the characteristics are displayed in Supplementary Table 1.\nAs shown in Table 1, the median age of patients was 62.5 (55.0-73.0) years old. Half of the cases were male. Four (40%) patients were diagnosed with lung cancer and 2 patients were diagnosed with thymoma. Other cancer types included cervical cancer, pyriform sinus squamous cell carcinoma, gallbladder carcinoma, and hepatocellular carcinoma. Furthermore, one patient diagnosed with cervical cancer had a previous history of breast cancer, and one patient with lung adenocarcinoma was once diagnosed with papillary thyroid carcinoma. Before ICI treatment, 70% of the patients were treated with surgeries, and 80% had received chemotherapy. Radiotherapy was performed on 60% of the patients, and two (20%) patients also received angiogenesis inhibitors. Only two patients were found to have previous cardiovascular disease, one was diagnosed with hypertension and the other was diagnosed with coronary heart disease.\nThe most frequent ICIs treatment for the cases were sintilimab (30%) and camrelizumab (30%). Nine patients were treated with anti-PD-1 therapy, while the remaining one received anti-PD-L1 therapy. Median time from the use of the first dose of ICI to onset was 28.5 (17.8-63.5) days and symptoms at onset varied markedly. The most common symptoms presented in our cases were chest tightness, which occurred in 50% of the patients. Palpitations and fatigue were presented in 30% of the patients. Neuromuscular symptoms also occurred in ICI-related cardiac irAE. Forty percentage of the patients presented with blepharoptosis, one patient showed diplopia and one patient developed conscious disturbance during the disease.\nBased on the diagnosing criteria proposed by Marc P. Bonaca et al., only two patients were classified as having definite myocarditis. Six cases were classified as other myocardial injury and two patients were regarded as having possible myocarditis, mainly due to the lack of confirmed examinations such as coronary angiography to rule out acute coronary syndrome. Sixty percentage of the patients were mild cases classified as G1-2.\nLaboratory, electrocardiogram, and echocardiogram findings for the patients with cardiac irAE were shown in Table 2. Lymphopenia was frequently found in the cardiac irAE (7, 70%). The elevated level of serum alanine aminotransferase (ALT) and aspartate aminotransferase (AST) was observed in six (60%) and nine (90%) patients, respectively. Markedly evaluated levels of creatinine kinase (CK), creatinine kinase-muscle and brain type (CK-MB), and troponin I (TnI) were found in nine (90%) patients. B-type natriuretic peptide (BNP) tests were available in eight patients, and levels were significantly elevated in four (50%) of them. The serum levels of C-reactive protein (CRP), an important biomarker in systemic inflammation, were available in five patients, and CRP levels were elevated in four (80%). Four heart-specific autoantibodies were measured in two patients (Case 1 and 4, see Supplementary Material 1) by enzyme-linked immunosorbent assay, and both of their serum samples were positive.\n12-lead ECG and transthoracic echocardiography were performed in all cases. Cardiac conduction disorders including atrioventricular block (AVB) and bundle branch block were found in seven (70%) patients. One patient presented I-II AVB, which eventually progressed to complete AVB (case 1, Supplementary Material 1). Systolic function was preserved in seven (70%) patients, and only three (30%) patients developed systolic dysfunction with left ventricular hypokinesia.",
"gender": "Male"
}
] |
PMC8685438
|
[
{
"age": 65,
"case_id": "PMC4821151_01",
"case_text": "The patient was a 65-year-old African-American man with a history of hypertension, diabetes, coronary artery disease, and ischemic cardiomyopathy (ejection fraction 30-35%) who presented to the emergency department with moderate-to-severe mid-abdominal pain, nausea, vomiting, and constipation for 4-5 days. He had demonstrated a decreased appetite and an about 70- to 80-pound weight loss in the preceding 2 months. His medical history was also significant for atrial fibrillation, left ventricular thrombus, and cerebral aneurysm with prior intraventricular hemorrhage. He had a 40-pack-year smoking history, a history of chronic alcoholism for over 40 years, and prior cocaine and marijuana use. He denied any family history of cancer. His physical examination was notable for abdominal distention and mild epigastric tenderness, but his abdomen was soft and he had normoactive bowel sounds. He had no hepatosplenomegaly and his examination was otherwise unremarkable.\nHis workup included laboratory tests, which showed normal serum amylase and lipase levels. Liver function tests revealed alkaline phosphatase at 172 U/l (normal = 30-165), alanine transaminase at 12 U/l (normal = 0-55), aspartate transaminase at 49 U/l (normal = 0-50), bilirubin at 1.3 mg/dl (normal = 0.2-1.2), and albumin at 2.8 g/dl (normal = 3.2-5.5). His other serum chemistries were normal. Serum tumor markers were obtained, which showed carcinoembryonic antigen (CEA) at 10,400 ng/ml (normal = <2.5 for nonsmokers, <5 for smokers), cancer antigen 125 at 358 U/ml (normal <35), and alpha-fetoprotein (AFP) at 4,970 ng/ml (normal = <6.1). A contrast-enhanced computed tomography (CT) of the abdomen and pelvis showed a markedly dilated, debris-filled stomach with no contrast beyond the gastric antrum, and a mass-like density in the gastric antrum or proximal duodenum measuring approximately 4 cm in diameter (fig. 1a). Multiple hypodense hepatic lesions (the largest being 6 cm in the right hepatic lobe) were also seen, which was consistent with metastatic disease (fig. 1b).\nThe patient subsequently underwent upper endoscopy, which showed distal esophageal varices and undigested food in the stomach. A circumferential, friable mass at the duodenal bulb was noted, obliterating 80% of the lumen and preventing scope advancement beyond the second portion of duodenum (fig. 2). Biopsies were obtained. He underwent colonoscopy as well, which was essentially normal. The gastric antrum biopsy showed mild chronic inactive gastritis, and the pyloric antral biopsy showed mild chronic active gastritis with foveolar hyperplasia; a Giemsa stain was negative for Helicobacter pylori. A biopsy of his duodenal mucosa showed mild chronic active inflammation of the lamina propria with no significant villus blunting. The biopsy of the visualized duodenal mass, however, showed a moderately differentiated adenocarcinoma with glandular formation, which was confirmed by mucin-positive staining. There were also areas with trabecular and nested patterns seen (fig. 3a). A comprehensive immunostain panel showed that the tumor cells were negative for Hep Par 1 and glypican-3, essentially ruling out hepatocellular carcinoma. The tumor cells were positive for CEA, AFP, CK18, CK19, and CDX-2, but were negative for CK7, CK20, and synaptophysin (fig. 3b, c).\nThe patient also underwent a CT-guided biopsy of his liver lesions, which showed invasive, moderately differentiated adenocarcinoma with striking morphological and immunohistochemical similarity to the duodenal bulb mass biopsy, suggesting that the duodenal bulb was the most likely primary origin. Given the pathological and laboratory findings of adenocarcinoma of the duodenum with AFP-positive tumor staining and elevated serum AFP levels in the absence of hepatocellular carcinoma, he was diagnosed with stage IV HAC of the duodenum.\nHis course subsequently was notable for pyloric stent placement to help relieve his gastric outlet obstruction. He unfortunately continued to have nausea and bilious vomiting despite stent placement, and required total parenteral nutrition. Chemotherapy was deferred due to his poor performance status (ECOG PS 4), and he was managed supportively. His hospital course was further complicated by septic shock due to Escherichia coli bacteremia and fungemia, acute hypoxic hypercapnic respiratory failure requiring mechanical ventilation, and loculated empyema. Unfortunately, he died from multiorgan failure within 1 month of his diagnosis.",
"gender": "Male"
}
] |
PMC4821151
|
[
{
"age": 75,
"case_id": "PMC6393948_01",
"case_text": "The patient is a 75-year-old male who presented to our clinic in 2017 with progressive weight loss over prior 2 years, night sweats, pruritus, early satiety, and left upper quadrant pain. Physical examination was pertinent for hepatosplenomegaly. His white blood cell (WBC) count was 23 200 cells/mm3 with 92% neutrophils, hemoglobin 14.3 g/dL, and platelet count 741/mm3. He had no blasts in peripheral blood. Per chart review, we noted that he had started to develop neutrophilia and thrombocytosis in 2013 and 2014, respectively. Quantitative reverse transcription polymerase chain reaction was positive for both b2a2 and b3a2 transcripts at 2.1% and 1.2%, respectively. Imatinib was started. Eight weeks later, WBC count was 16.8 cells/mm3, hemoglobin 14.5 g/dL, platelet count 649/mm3, and reverse transcription polymerase chain reaction negative for BCR-ABL transcripts. The fact that the patient had complete molecular response without hematologic response triggered further workup. JAK2 V617F mutation was checked in peripheral blood and was positive. Erythropoietin was low at 1.3 mIU/mL. Examination of the bone marrow showed hypercellularity (90%) with myeloid/erythroid ratio of 7.7, proliferation of atypical megakaryocytes, <1% blasts, and widespread grade 2 reticulin fibrosis. No BCR-ABL translocation was detected by fluorescence in situ hybridization. DIPSS (Dynamic International Prognostic Scoring System) Plus score was 1. Myelofibrosis mutational profile analysis was not available. Hydroxyurea was added on top of imatinib (Figure 1).\nIncluding our case, 11 patients had PMF, 10 had PV, and 5 had ET. In 8 cases, the exact nature of the myeloproliferative disorder was not clear. MPD preceded CML in 10 cases, CML preceded MPD in 9 cases, and both were diagnosed concomitantly in 15 cases. Interestingly, when MPD preceded CML, the mean time interval between the diagnoses of the 2 entities was 10.6 years compared with 5.4 years when CML preceded MPD. Interaction between JAK2 mutation and BCR-ABL transcripts levels varies. In most cases, JAK2 and BCR-ABL levels moved in opposite directions. In the remaining cases, JAK2 level decreased or remained constant while BCR-ABL level decreased.",
"gender": "Male"
}
] |
PMC6393948
|
[
{
"age": 76,
"case_id": "PMC8017431_01",
"case_text": "A 76-year-old man undergoing treatment with anti-PD1 antibody (pembrolizumab) for lung adenocarcinoma consulted in the Emergency Department for fever and 1 week of dyspnea. Physical examination revealed peripheral oxygen saturation < 90%, requiring supplemental oxygen. No infiltrates were found on the chest X-ray, despite a positive polymerase chain reaction (PCR) for SARS-CoV-2 in nasopharyngeal swab. Initial blood test results are shown in Table 1. During admission, he received treatment with hydroxychloroquine and respiratory support for 10 days, being discharged upon resolution of fever and respiratory symptoms. Two weeks later, he returned to the hospital, due to high unremittent daily fever up to 39 . No clear etiology was evident in the anamnesis, and the physical examination was unremarkable, excepting the fever. Broad-spectrum antibiotics were initiated (meropenem, linezolid, and trimethoprim-sulfamethoxazole). Blood cultures were negative on several occasions; cytomegalovirus and Epstein-Barr virus viral loads were undetectable; serologies for syphilis, HIV, hepatitis B, hepatitis C, Mycoplasma pneumoniae, Coxiella burnetti, and Parvovirus B19 were negative; and Interferon Gamma Release Assay (IGRA) tested negative. However, SARS-CoV-2 PCR remained positive in the nasopharyngeal swab. Despite antibiotic treatment, daily fever persisted, and clinical and analytical parameters worsened presenting pancytopenia, organomegaly, and elevation of ferritin and cytokine profile (Table 1). A positron emission tomography performed was unremarkable. At that point, calculated Hscore score was 211, conferred a 93.65% probability of his clinical condition being caused by hemophagocytic lymphohistiocytosis. Bone marrow examination was not obtained. High-dose intravenous immunoglobulins (IVIG) (1 g/Kg x 2 days) were started, with fever disappearance, hemodynamic improvement, and attenuation of acute phase reactants (Table 1). The patient improved and was discharge without presenting recurrence in the follow-up.",
"gender": "Male"
}
] |
PMC8017431
|
[
{
"age": 26,
"case_id": "PMC6796728_01",
"case_text": "Patient is a 26-year-old female with a past medical history of HIV. She was infected at age 15 and showed poor adherence to antiretroviral medication. She reported the combined use of Tenofovir, Emtricitabine, and Efavirenz intermittently, mostly because she did not seek adequate healthcare due to feelings of shame about being associated with the disease. She also missed most of her follow-ups in the last year, and had no CD4 counts or viral load tests performed in over 6 months. She also suffered from intermittent episodes of coughing, bloody stools, and weight loss during this time; however, she didn't seek any medical attention.\nShe presented to our emergency room with a 10-day history of intermittent lower abdominal pain, nausea, biliary vomits and asthenia. Approximately 24 h prior to admittance, the pain became worse. On clinical examination, a dehydrated, hypotensive and tachycardic patient was encountered. Her abdomen was diffusely tender, and the pain became more intense on touch. Laboratory exams revealed mild leukocytosis and neutrophilia. An arterial gasometry revealed metabolic acidosis with hyperlactatemia.\nIn view of these findings, surgical consultation was requested and a diagnosis of diffuse peritonitis was reached. Aggressive fluid resuscitation with crystalloids was started and an emergency laparotomy was decided. At surgery, the peritoneal cavity was filled with 500 ml of pus and 2 bowel perforations were identified: a 1 x 1 cm perforation in the terminal ileum, 50 cm proximal to the ileocecal valve, and a 3 x 2 cm perforation in the cecum (Fig. 1A-C).\nA right colectomy was decided, however, the surgical team had doubts about restoring bowel continuity. Nonetheless, since the patient became stable after reanimation and surgery, restoration was considered feasible. Given the context of an HIV patient with poor controls who would be unlikely able to handle an ileostomy, a primary anastomosis with close surveillance was decided. Resection began 10 cm proximal to the ileal perforation and ended near the hepatic flexure of the colon. Then, a side-to-side ileotransverse anastomosis was performed with 75 mm staples (ETHICON Linear Cutter NTLC75, Johnson & Johnson). Extensive washing of the peritoneal cavity was completed and the remainder of the procedure was performed without complications. Based on the historical, clinical, and laboratory data obtained, we initially considered intestinal perforation due to cytomegalovirus (CMV) infection as the probable etiology of peritonitis, and the differentials included, mycobacterial infections, fungal infections, neoplastic disease or Kaposi sarcoma. However, definitive pathology tests for the cause of the perforation were delayed due to the unavailability of an in-house pathologist. Furthermore, other essential tests including CD4 counts and HIV viral loads and antibodies (both IgM and IgG) were not available at our institution.\nThis situation was further complicated by the lack of resources from the patient and our hospital; nonetheless, we managed to send a blood sample to a nearby hospital for testing. Even under these harsh conditions, the patient had a good recovery. She was placed under broad-spectrum antibiotics (Piperacillin/Tazobactam) and was given a 3-day cycle of Ganciclovir. Antiretroviral Therapy (ART) was initiated as well. Meanwhile, sips of liquids were initiated on the second postoperative day without complications. She didn't have any episodes of fever, nausea, vomiting or signs of anastomosis leak.\nAt the 7th postoperative day, the patient requested to leave against medical advice (AMA), she signed the hospital consents and left our facility.\nTwo days after the patient went AMA, CD4 and HIV viral load results arrived along with the pathology report, revealing chronic inflammation of the resected bowel, and multiple ulcers affecting the mucosa of the ileum and the cecum. Also, multiple granulomas surrounded by inflammatory tissue were recognized, as well as some granulomas within the lymph nodes. Bowel perforation due to tuberculosis was confirmed as the final diagnosis, CD4 cell counts were estimated at 94 cells/mm3, and the viral load was estimated at over 106 genome copies (Fig. 2A-C).\nSince tuberculosis in Ecuador is a mandatory declaration disease, we searched for the patient and found her in the coastal region of the country. Fortunately, she was stable and without complications. She was taken by the national healthcare system and admitted to a tertiary hospital for HIV and tuberculosis treatment.",
"gender": "Female"
}
] |
PMC6796728
|
[
{
"age": 42,
"case_id": "PMC4427155_01",
"case_text": "A 42-year-old African-American male with a history of (h/o) end-stage renal disease (ESRD) of unknown etiology, hypertension (HTN), who was on hemodialysis for 7 years, received a deceased donor renal transplant in July 2005 (fig. 1a). The renal allograft was procured from a 38 year-old Caucasian female who had received a SPK 3 months before (D-/R+) and died of intracranial bleed. Her posttransplant course was notable for fever and diarrhea and she was treated with IV GCV for presumed CMV colitis. At the time of the kidney procurement from the first transplant recipient, she was noted to be CMV IgM negative. The second recipient was induced with antithymocyte globulin and received a total of 7 doses in the setting of DGF. His maintenance immunosuppression consisted of tacrolimus, MMF, and prednisone. For CMV prophylaxis, he was given IV GCV (50 mg IV daily for 2 weeks) followed by VGCV (450 mg daily). However, he was found to have leukopenia and CMV viremia on postoperative day (POD) 38 (307,000 copies/ml) while he was still on VGCV. He was switched to IV GCV but his viral load continued to rise, and IV foscarnet (3 gm BID) was started on POD 51. The genetic mutation study was notable for UL97 mutation. Viremia was cleared on POD 72, and IV foscarnet was continued until POD 179. Leflunomide was started on POD 185, and he still remains on it. His renal allograft is still functioning (serum creatinine, Scr 1.7-2.1 mg/dl) 10 years later, and he has not had a recurrence of CMV viremia/disease.",
"gender": "Male"
},
{
"age": 34,
"case_id": "PMC4427155_02",
"case_text": "A 34-year-old Hispanic male with h/o ESRD, type 1 diabetes mellitus, HTN, and hyperlipidemia, who was on hemodialysis for 3.5 years, underwent a SPK (D+/R-) in August 2008 (fig. 1b). His induction treatment consisted of daclizumab. He was on tacrolimus, MMF, and prednisone, and there was no DGF. He was given a 3-month course of VGCV for CMV prophylaxis. He developed CMV viremia (67,000 copies/ml) on POD 373 and was symptomatic with malaise and diarrhea. Although he was started on IV GCV treatment, the CMV viral load continued to rise, and IV foscarnet was started on POD 378. The CMV viral load peaked at 214,000 copies/ml on POD 383, and the virus became undetectable on POD 401. IV foscarnet was discontinued on POD 436. Leflunomide was started on POD 528 and discontinued on POD 1,106 when his liver function tests were found to be elevated [AST 118 (normal range 15-37) and ALT 248 (normal range 8-35)]. A liver biopsy showed steatohepatitis (grade 1, stage 1). A normalization of the liver enzymes was seen 10 weeks after leflunomide was discontinued. The patient has remained free of CMV viremia/disease, and his renal allograft is still functioning (Scr 2.8-3.0 mg/dl).",
"gender": "Male"
},
{
"age": 43,
"case_id": "PMC4427155_03",
"case_text": "A 43-year-old, highly sensitized (PRA: Class I 56%, Class II 85%) African-American male with h/o of ESRD secondary to posterior urethral valve syndrome, s/p DDRT (06/1987), s/p LRRT (10/1987) underwent a third renal transplant (D+/R-) with an ileal conduit on January 27, 2011 (fig. 1c). He was induced with antithymocyte globulin (100 mg x 4 doses). He received a 100-day course of VGCV (900 mg daily) for CMV prophylaxis. His posttransplant course was complicated by an intra-abdominal abscess requiring surgical drainage and prolonged bowel rest except for his medications. CMV was first detected on POD 146 when the patient presented with diarrhea and weakness. He was treated with VCGV (900 mg BID) but continued to have low-grade viremia for the next 5 months. UL97 mutation was detected, and leflunomide was started on POD 297. An investigational oral analogue of cidofovir (CMX001, now known as brincidofovir) obtained from Chimerix for compassionate use was added on POD 322 and discontinued on POD 439. The patient's renal allograft function remains stable (Scr of 1.3-1.4 mg/dl), and he continues on leflunomide.",
"gender": "Male"
},
{
"age": 45,
"case_id": "PMC4427155_04",
"case_text": "A 45-year-old, highly sensitized (PRA 88-100%) African-American male with h/o of ESRD of unknown etiology, HTN, who was on hemodialysis for 7 years, received a paired deceased donor kidney transplant from a 67-year-old deceased donor in December 2002 (fig. 1d). He received 1 dose of antithymocyte globulin and 2 doses of basiliximab for induction. His posttransplant course was complicated by DGF. He received VGCV for CMV prophylaxis but developed leukopenia and CMV viremia while still on VGCV prophylaxis on POD 80. He was treated with an increased dose of VGCV and was switched to IV GCV treatment on POD 110 when the CMV DNA hybrid capture test results continued to rise. Foscarnet was started on POD 134, and CMV was undetectable on POD 154, at which time foscarnet was replaced with leflunomide. There was no recurrence of CMV viremia/disease, but the patient had gradually worsening renal allograft function. A renal biopsy on POD 145 showed acute tubulointerstitial nephritis (due to foscarnet), and a subsequent biopsy on POD 318 showed a type 1A rejection and chronic allograft nephropathy with 40% tubular loss. He was restarted on dialysis in July 2004.",
"gender": "Male"
},
{
"age": 51,
"case_id": "PMC4427155_05",
"case_text": "A 51-year-old African-American male with h/o of ESRD, type 1 DM, and HTN underwent a SPK in May 2001 (fig. 1e). He was induced with 1 dose of antithymocyte globulin and 2 doses of basiliximab and was maintained on sirolimus/MMF/prednisone. His CMV prophylaxis consisted of 3 months of GCV treatment (mostly IV). His posttransplant course was complicated by DGF and three episodes of acute rejection (two type 1B rejections (on POD 21 and 43) and one type 2A rejection (on POD 184) and required treatment with IV antithymocyte globulin as well as pulse steroids. Viremia, first detected on POD 458, was accompanied by diarrhea and malaise, and the patient was treated with IV GCV. Although his viral load improved as estimated by a CMV hybrid capture study, he was unable to eradicate the viremia, and a 2-week course of IV foscarnet was started on POD 595 to achieve viral clearance. He had a recurrence of CMV viremia on POD 811 and was treated with IV GCV but without viral clearance. IV foscarnet was started on POD 884, and leflunomide was added on POD 942. His last detectable CMV viremia occurred on POD 1,420. He died on POD 3,359 of a myocardial infarction. His renal allograft function ranged from 1.7-2.0 mg/dl in the last 3 months of his life.",
"gender": "Male"
}
] |
PMC4427155
|
[
{
"age": 55,
"case_id": "PMC5994735_01",
"case_text": "We present the case of a 55-year-old woman underwent bariatric surgery in 2014, after which she lost 55 kg of weight (Fig. 1). The patient did not have associated co-morbidities. Given the significant weight loss, with a stable body weight for about 1 year, the patient showed a common skin laxity, especially represented in the abdominal region. The cutaneous laxity of the abdominal region, with ptosis of the dermo-adipose tissues, classified the patient as a grade 3 according to Matarasso, also had a diastasis of the rectus muscles of the abdomen, with indication for surgical intervention. We decide to perform an abdominoplasty with transposition of umbilicus and strengthening of the rectus abdominis muscles by plication of the muscular fascia. Given our experience with patients undergoing bariatric surgery, we decided to perform an abdominoplasty with preservation of the Scarpa Fascia. In fact, this technique seems to have a positive impact on reducing seroma formation, reducing the amount of drained fluids and the drainage time. In our experience, patients undergoing massive weight loss show a greater tendency in the formation of seromas for which it is decided to conduct this procedure.\nWe evaluated the following variables: age, BMI, comorbidity, drainage removal times, total volume of drained fluids, length of hospital stay. The follow-up was 18 months.\nIn our clinical practice, we perform antibiotic prophylaxis with cefazolin 2 g iv 30 min before surgery. According to the literature the abdominal flap was sculpted in two different planes, superficial prefascial (above the Scarpa Fascia) in the infraumbilical region and preaneurotic region in the epigastric portion. The skin incision is made according to the preoperative design (Fig. 2), then the abdominal flap is sculpted with ultrasound scalpels. During this maneuver we prefer a manual traction of the flap taking care to preserve the Scarpa Fascia up to about 1 cm below the umbilical scar as described in the literature. Once this level is reached, dissection is carried out according to a premuscular (preaponeurotic) plane. The dissection up to the xiphoid process is confined to the area between the medial margins of the rectus abdominis muscles in order to preserve the perforating vessels of the upper abdomen. The trabecular ligament of the xyphoid process, in our case has been sectioned so the sliding of the abdominal flap is facilitated. Once the tunnel has been completed, the muscle fascia of the rectum is plicated with its approach in the upper abdominal portions, then a medial portion of the adipofascial tissue is removed and the premuscular plane is exposed (Fig. 3). Reposition of the umbilical scar approximately 2 cm above the projection on the abdominal flap. With the patient in semi-Fowler position the abdominal flap is approached at the suprapubic margin and positioning of 2 suction drains JP (Jackson Pratt). Sutures in 3 layers in latero-medial direction and dressing with steri-strip. The patient wore a compressive sheath for 40 days. Drains were removed in second day when the amount drained in 24 h was less than 30 ml.",
"gender": "Female"
}
] |
PMC5994735
|
[
{
"age": 27,
"case_id": "PMC10326381_01",
"case_text": "In February 2022, a 27-year old male with SCD was transplanted with an ABO-mismatched HLA-identical sibling donor (patient O positive, donor B positive). He received alemtuzumab 1 mg/kg total dose and total body irradiation (3 Gy) as conditioning, followed by peripheral blood stem cell infusion. Graft versus host-disease (GvHD) prophylaxis consisted of sirolimus. The conditioning regimen was preceded by a 3 month long preconditioning phase with azathioprine 150 mg/day and hydroxyurea 25 mg/kg/day. In the months before HSCT, the patient developed a serious delayed hemolytic transfusion reaction (DHTR). In the past, the patient was diagnosed with anti-Jk(b) antibodies, which had disappeared at the time of the DHTR. However, new anti-Wr(a) antibodies and nonspecific cold auto-antibodies were detected at the time of DHTR. The patient was successfully treated with prednisolone and immunoglobulins. Subsequently, 3 weeks before a planned pre-transplant RBC exchange transfusion, he was treated with rituximab (375 mg/m2) to reduce the risk of another episode of DHTR. Blood group genotyping of the matched sibling donor was performed, which was positive for Jk(b) and negative for Wr(a). No antibodies to the donor's RBC antigens were present before the transplantation. After transplantation, rapid engraftment of leukocytes and platelets occurred. However, the patient remained anemic with profound reticulopenia, for which he needed regular RBC transfusions, receiving a total of seven RBC units before resolution of PRCA. Physical examination revealed no abnormalities. Donor myeloid chimerism was >95%, ruling out primary rejection of the allograft. A PCR for parvovirus B19 DNA was negative. Post-allogeneic HSCT isohemagglutinin titers remained present (IgG anti-B 1:32, IgM anti-B 1:8). No other RBC antibodies were detected at the time of the PRCA. Pure red cell aplasia was diagnosed and treatment with 4 weekly doses of daratumumab (1800 mg subcutaneously, fixed dose) was started on day +60 post-transplantation. Daratumumab was tolerated fairly well by the patient, besides an episode of fever grade 2 (CTCAE v.5) and headache grade 1 (CTCAE v.5), which occurred after the second dose. After 4 doses of daratumumab, prompt increases of hemoglobin and reticulocyte counts ( Figure 1 ) and the disappearance of anti-B isohemagglutinins were observed. Chimerism analysis 12 months post-transplantation showed stable donor myeloid chimerism (>95%) and 69% donor T-cell chimerism. Peripheral blood B-cell count had reconstituted to normal values (absolute count 0.104x109/L, 21.7% of lymphocytes). In the 12 months follow-up period after initiation of daratumumab to date, no transfusions or other immunosuppressive therapies have been necessary, and anti-B isohemagglutinins remain undetectable.",
"gender": "Male"
}
] |
PMC10326381
|
[
{
"age": 42,
"case_id": "PMC4724686_01",
"case_text": "A 42-year-old married female was admitted in a tertiary care hospital with history of breathlessness on exertion of 2 months duration, which was associated with productive cough without any prior history suggestive of respiratory tract infection or viral prodrome. The patient also gave history of occasional palpitations of same durations, and did not have any significant past history. Her physical and systemic examination was normal. The investigative profile of the patient revealed: hemoglobin of 12.7, platelets, and erythrocyte sedimentation rate (ESR) with normal counts. Biochemical parameters like kidney and liver functions were normal. Echocardiography was normal but the x-ray chest parasternal axis view revealed cardiomegaly. Transthoracic echocardiography revealed a large pericardial mass measuring 10.6 x 4.8 cms (Figure 1 & 2), honeycombed in appearance, compressing the right atrium and right ventricle, and was associated with moderate pericardial effusion. The possibility of hydatid pericardial cyst was made, but hydatid serology was negative. Ultrasonography of abdomen was also normal. She was then extensively worked up with all forms of imaging including contrast enhanced CT (CECT) chest and cardiac MRI (Figure 3). Her CECT thorax revealed isodense non-enhancing lesion in pericardial cavity with pericardial fluid. The CECT possibility of organized exudative collection was made, and pericardial tumor like mesothelioma/teratoma was less likely in view of non-enhancing lesion. Cardiac MRI shows multicystic lesion in the right atrioventricular groove of heterogeneous hyperintense signal on T1 weighted images and bright signal on T2 weighted and gradient echo images with indistinct myocardial wall along the pericardial lesion. Lesion shows hypointense septae, and is compressing the right atrium and right ventricle. The MRI possibilities of pericardial lymphangioma, complex pericardial effusion, hemangioma/teratoma were made. The uncertainty of diagnosis was explained to the patient and her immediate family (husband and brother), and due to this uncertainty, no prognostication was performed. They understood the risk and consented for the operation. Finally she was subjected to surgery with surgical notes revealing the operative findings as pinkish brown mass covering the entire right ventricle on opening the pericardium. At no place did it feel hard and nodular, and was arising entirely from the right ventricular myocardium, and approximately 10 ml of clear straw colored fluid was aspirated from 2 cystic areas of the mass, and was sent for cytology and biochemistry. A categorical report of absence of malignancy from frozen section made the surgeons to excise as much as possible of the mass using the cardiopulmonary bypass support, and unfortunately, while excising the mass in the atrioventricular (AV) groove her right coronary artery (RCA) got excised with the tumor, which was given left saphenous vein graft. The whole operative and postoperative periods were otherwise uneventful. Screening echo revealed residual mass seen 4/2.8 cm at the junction of right atrium (RA)/right ventricle (RV)without pericardial effusion. Histopathology report of excised RV mass came as cystic lymphangioma (Figure 4 & 5).",
"gender": "Female"
}
] |
PMC4724686
|
[
{
"age": 4,
"case_id": "PMC8573117_01",
"case_text": "A 4-year old, male-castrated, mixed breed dog was presented to a primary care veterinarian for a routine wellness examination (day 1). The dog was adopted 7-months prior and the previous medical history was unknown. The owner reported that the dog exercised daily without limitation, lived indoors only, and had no history of trauma. The dog was fed a commercial kibble diet and not administered any medications or supplements. The physical examination, which included thorough neurologic, musculoskeletal, and cardiopulmonary evaluations, was unremarkable. A complete blood count, serum biochemistry, symmetric dimethylarginine (SDMA), and urinalysis were performed. Clinically relevant abnormalities on the serum biochemistry performed at that time included a severe hyperCKemia (15,137 IU/L; reference interval 10-200 IU/L), and moderate increases in alanine transaminase (ALT; [432 IU/L; reference interval 180-121 IU/L]) and aspartate aminotransferase (AST; [404 IU/L; reference interval 16-55 IU/L]) enzyme activities. The complete blood count, SDMA, and urinalysis were unremarkable. A serum biochemical profile was repeated 7-days later, which revealed persistently increased serum CK activity (10,301 IU/L) as well as ALT (409 IU/L) and AST (290 IU/L) enzyme activities (Figure 1). Recommendations for additional diagnostic testing were declined by the owner in favor of empirical treatment for potential toxoplasmosis/neosporosis with clindamycin (22.7 mg/kg, PO, q12 h for 14 days).\nThe dog was presented for evaluation on day 55. The owner reported no clinical changes in the dog and the physical examination remained unremarkable. A serum biochemistry was repeated and revealed relatively unchanged serum CK, ALT, and AST enzyme activities (Figure 1). A commercial ELISA-based kit (4DX SNAP Plus Test kit, IDEXX Laboratories Inc., Westbrook, ME) was negative for detection of antibodies for Ehrlichia sp., Anaplasma phagocytophilum, Anaplasma platys, Borrelia burgdorferi C6 peptide, and Dirofilaria immitis antigen. Differential diagnoses considered by the primary care veterinarian at that time included infectious polymyositis (Toxoplasma gondii or Neospora canis [potentially resistant to clindamycin], Hepatozoon canis or americanum), immune-mediated polymyositis, paraneoplastic polymyositis, congenital myopathy, or a hereditary muscular dystrophic disorder. The following diagnostic tests were recommended; skeletal muscle biopsy, electromyogram (EMG), echocardiogram, serum antinuclear antibodies, and additional infectious disease testing. The owner declined these recommendations because the dog was subclinical and instead opted for an additional course of clindamycin (22.7 mg/kg, PO, q12 h for 30 days). The dog was presented for evaluation on day 97. Again, the owner reported no abnormalities and the dog had an unremarkable physical examination. A serum biochemistry revealed relatively unchanged serum CK, ALT, and AST enzyme activities (Figure 1). All additional diagnostic testing recommendations were declined and the dog was discharged without medications.\nThe dog was presented to the primary care veterinarian for a wellness examination on day 602. The owner reported no abnormalities since the dog was last evaluated (day 97). The dog continued to exercise daily without limitation. Physical examination was unremarkable. There was no pain elicited with muscle palpation. A complete blood count, serum biochemistry, and urinalysis were performed. The serum biochemistry revealed persistence in severe hyperCKemia and mild to moderate increases in ALT and AST enzyme activities (Figure 1). The complete blood count and urinalysis were unremarkable. The owner declined additional diagnostic tests or empirical therapies at that time because the dog did not demonstrate any clinical abnormalities.\nThe dog was then presented to the Midwestern University Companion Animal Clinic (MWU-CAC) on day 1,036 for a second opinion regarding the severe hyperCKemia and mild-to-moderate increase in ALT and AST enzyme activities. The dog remained subclinical and exercised daily without limitation. A physical examination performed by a boarded small animal internist (JAJ) was unremarkable. The dog had a normal muscle conditioning score and pain was not elicited with deep palpation of musculature. A neurologic examination performed by a boarded neurologist (JE) revealed the dog was bright, alert and responsive. The dog was ambulatory with no signs of stilted gait, lameness or paresis. There was no overt exercise intolerance after several minutes of walking and trotting. Postural reactions, spinal reflexes and cranial nerves were normal. Serum biochemistry revealed an unchanged severe hyperCKemia and persistent mild-to-moderate derangements in ALT and AST enzyme activities (Figure 1). The dog was negative for detection of antibodies (IgM and IgG) for Toxoplasma gondii or Neospora canis (Protatek Reference Laboratory) and nucleic acids associated with Hepatozoon spp. (Texas A&M Veterinary Medical Diagnostic Laboratory) were not detected. An abdominal ultrasonogram performed by a boarded small animal internist (JAJ) trained in ultrasonography was unremarkable. Differential diagnoses considered at that time in order of likelihood was hereditary muscular dystrophy, and less likely necrotizing myopathy, generalized or focal inflammatory myopathy. Additional diagnostic tests including EMG, echocardiogram, or skeletal muscle biopsies were offered but declined by the owner.\nThe dog was evaluated on day 1,516 at the MWU-CAC for a pre-anesthetic examination for a dental prophylactic procedure. The owner reported no abnormalities since the dog was last evaluated (day 1,036) and the physical examination remained unremarkable. The dog had no muscle loss and remained active at home. A serum biochemistry revealed an improved, but persistent moderate hyperCKemia and mild-to-moderate increase in ALT and AST enzyme activities (Figure 1). A complete blood count and urinalysis were unremarkable. Next, an echocardiogram and electrocardiogram were performed by a boarded cardiologist (CP) in light of the persistent and unknown cause of severe hyperCKemia to ensure the dog did not have clinically relevant heart disease before undergoing anesthesia. Based on the echocardiographic findings, ACVIM Stage B1 degenerative valvular disease was detected, and demonstrated mild mitral and mild tricuspid regurgitation. The global systolic function appeared preserved. During the echocardiogram, Lead II electrocardiographic monitoring revealed a normal sinus rhythm with no evidence of ectopy.\nThe last in-hospital recheck examination took place on day 1,807 (5 years from initial evaluation). The owner reported no clinical abnormalities and the physical examination was unremarkable (Supplementary Video). The neurological examination was again normal. A serum biochemistry revealed a moderate hyperCKemia (4,601 IU/L) and mild-to-moderate increases in ALT (225 IU/L) and AST (165 IU/L) enzyme activity (Figure 1). Electrophoretic identification of serum CK isoenzymes (Antech Diagnostics, Irvine, CA, USA) revealed that CK-MM was the predominant electrophoretic fraction (83.7%), followed by CK-MB (10.3%) and CK-BB (6.0%). No injections were administered to the dog at or near the time serum total CK was measured at any of the examination time-points.",
"gender": "Unknown"
}
] |
PMC8573117
|
[
{
"age": 80,
"case_id": "PMC6201379_01",
"case_text": "An 80-year-old woman was admitted to the hospital after a fall. Her prior history was notable for coronary artery disease status post percutaneous intervention, poorly controlled type 2 diabetes mellitus, congestive heart failure, hypothyroidism, and atrial fibrillation. She had had multiple mechanical falls in the past with cervical spine and right-sided rib fractures. She had no recent hospitalization in the last 90 days and has been living at home prior to presentation. There was no history of exposure to the farm animals. During this hospitalization, she developed progressive dyspnea and hypoxia. Computed tomography (CT) revealed a bilateral pleural effusion, right more than left, with diffuse interlobular septal thickening. Note was also made of a diffuse, mosaic-like attenuation of the lung parenchyma, likely related to air trapping or obstructive small airway disease. There was no pleural enhancement, septations, or air noted within the pleural space (Figure 1(a)). She was noted to have new fracture of right posterior seventh, eighth, and ninth ribs. Laboratory data at admission revealed a white blood cell (WBC) count of 9.7 x 1000/microL (with 83% neutrophils and 1% eosinophils). Her hemoglobin was 11.09 g/dL, hematocrit 40.6%, platelets 143 x 1000/microL, total protein 5.1 g/dL, blood urea nitrogen (BUN) 31 mg/dL, serum creatinine 1.51 mg/dL, serum sodium (Na) 145 mEq/L, chloride (Cl) 102 mEq/L, potassium (K) 3.6 mEq/L, aspartate aminotransferase (AST) 24 IU/L, and lactate dehydrogenase (LDH) 472 IU/L. Serum procalcitonin levels were elevated to 0.59 ng/mL (normal 0.00 - 0.08 ng/mL) and hemoglobin A1C (HbA1C) to 8.9%.\nBlood cultures prior to initiation of antimicrobial therapy returned negative. Sputum culture was negative for bacteria, including acid-fast bacilli. Transthoracic echocardiography was unremarkable.\nThe patient was treated initially with levofloxacin and ampicillin/sulbactam for a pneumonia and parapneumonic pleural effusion. Despite antimicrobial therapy, her respiratory status continued to deteriorate and within 48 hours of hospitalization required endotracheal intubation and ventilatory support. A thoracentesis yielded 250 ml of pus (WBCs more than 50,000 with 95% neutrophils, elevated protein 3.6 g/dL (normal 0.0-2.4 g/dL), LDH 13461 IU/L, glucose 6 mg/dL, and pH 6.94). A right-sided thoracostomy was performed to facilitate evacuation of the empyema using a 32 French (F) thoracostomy tube. Postprocedure chest X-ray confirmed the optimal placement of the tube (Figure 2). Gram stains obtained from the pleural fluid collected under sterile conditions revealed gram-positive cocci, and her antibiotics were changed to vancomycin. The final isolate on culture and sensitivity was identified as S. simulans with heavy growth, susceptible to vancomycin and clindamycin only. A repeat CT scan of the chest revealed a persistent collection of right-sided empyema (Figure 1(b)). Ultrasound imaging of the pleural collections did not demonstrate any septations or loculated pockets on either side. Second attempt was made to evacuate the pleural collection with the use of intrapleural fibrinolytic tissue plasminogen activator (t-PA) with little success. The patient was considered a high-risk candidate for surgical intervention considering her frailty and other medical comorbidities. Her course was further complicated by circulatory shock requiring vasopressor supports and atrial fibrillation with rapid ventricular response requiring multiple rate-controlling drugs. After about 3 weeks of a tenuous course, her family elected to withdraw care and she passed away very shortly thereafter.",
"gender": "Female"
}
] |
PMC6201379
|
[
{
"age": 48,
"case_id": "PMC3350232_01",
"case_text": "SM. A 48-year-old white female presented for evaluation of possible laser vision correction.\nDescriptions of her eye findings: 20/20 best corrected vision, normal intraocular pressure, simple myopia, normal cornea thickness, normal pupil size, and normal topography. The significant ocular findings: chronic bilateral optic disk edema for ten years.\nIn the consideration for the selection of either PRK or LASIK as the procedure for this patient, it is necessary to search relevant evidences to support the decision.\nPRK and LASIK are laser eye surgery procedures intended to correct a person's vision to reduce dependency on glasses or contacts.\nIn PRK, the surgeon removes the outer layer of epithelium with various techniques, then an excimer laser ablates and reshapes corneal tissue. Anesthetic drops are used to reduce pain. LASIK uses a microkeratome device or a femtosecond laser under suctioning to increase intraocular pressure to about 65 mmHg up to 100 mmHg for 45 second to cut epithelium and stroma to a thickness of 100-180 microns, and then, an excimer laser ablates corneal tissue under the epithelial/corneal tissue flap.\nPRK is an excellent alternative when LASIK is not an option. It is suitable for those with less corneal tissue, because it can preserve more corneal tissue. There will be no complications of stromal flap in PRK. Unlike LASIK, it does not require pressure suction on the eye ball. Nevertheless, the drawbacks are more discomfort than LASIK in the first 24 hours after procedure, it requires more healing time than LASIK, trauma may cause complications after surgery, and long-term outcomes are not as well established as older corrective procedures such as LASIK.\nLASIK is appropriate for people who have more corneal tissue. The benefits are less discomfort than PRK, almost no pain, 20/20 vision or better is typically achieved by the first day, corneal haze is very rare, immediate clear vision, and follow-up enhancements are easier if needed. However, the drawbacks are contraindicated with thinner corneas, flap may dislodge with trauma, increases higher-order aberrations (HOA), nonsmooth flap may lead to astigmatism, flap may result in scars, and postoperational treatment is needed in approximately 5% of patients.\nA search strategy was developed to search evidence in the literature to support the decision in the selection of the better procedure for this patient.\nPopulation: patients have sick optic nerve undergoing refractive laser surgery.\nIntervention: PRK.\nComparison: LASIK.\nOutcome: no damage to optic nerve after procedure.\nBoolean operators are the using of combining words and methods to search in electronic databases. The combining words used here are AND, OR.\nAccording to Boolean operators:\nAND:will produce references that include both keywords.\nOR:will produce references that contain at least one of the keywords\n refractive laser surgery\n PRK\n LASIK\n optic disc\n#1, and #4 include refractive laser surgery and optic disc\n#2, and #4 include PRK and optic disc\n#3, and #4 include LASIK and optic disc\n#2, and #5 include PRK and refractive laser surgery and optic disc\n #3, and #5 include LASIK and refractive laser surgery and optic disc\nrandomized control trial\nsystematic reviews\nqualitative studies\n#9, #8, and #12\n#9, #8, and #10\n#9, #8, and #11.\n Limits: English, research.\nThe search was conducted over Pubmed, Medline and Cochrane Library. 1492 articles were found, and 5 papers were selected for this case report. Pubmed had 83 articles, and none was selectedfrom Cochrane library review.\nThere were three observational case reports and two experimental studies (see Tables 1 and 2).\nLASIK-induced optic neuropathy by Cameron et al. clearly described the case of a subject with a previously normal optic nerve who developed bilateral optic neuropathy after LASIK surgery. The neuropathy manifested with visual field defects. Valid test such as complete eye exam with detailed evaluation of the optic nerve, detail medical history, stereodisc photographs, GDx nerve fiber analyzer, was used rigorously to confirm the diagnosis associated with LASIK pre-op and post-op. Other possible causes of optic neuropathy were also carefully ruled out. The author concluded that optic nerve neuropathy is a dangerous complication of LASIK. It may be due to barotrauma or ischemia from elevation of intraocular pressure by the suction ring during the LASIK procedure. Lee et al. and Montezuma et al. also reported similar cases with the same conclusion. Lee et al. even reported two cases that experienced chronic disc edema pre-op similar to this case pre-op. The two cases he reported had LASIK and suffered acute visual loss. Nevertheless, the experimental parallel control trial of Lester demonstrated no statistically significantly different measurement between before and after a compression of 100 mmHg to the eye for 45 second (as in suction ring pressure of LASIK procedure) in the mean RNFLT (retina nerve fiber layer thickness). This quantitative study showed that the acute increase in intraocular pressure during LASIK did not significantly change the thickness of retina nerve fiber layer in normal eyes. Furthermore, Hamada conducted a prospective consecutive study of 53 normal eyes to compare the RNFLT before LASIK and after LASIK. He concluded that transient extreme elevation of intraocular pressure (IOP) during LASIK does not affect RNFLT in normal myopic eyes for at least one year after surgery.\nThere were two case reports and one case series. Although these are poor-quality studies and rank near the bottom of hierarchy of evidence, these cases provide valuable insights and warning for potential sight-threatening conditions.\nThe two experimental studies were appraised according to the CASP framework.\nBoth studies have a clear focus:\nP: patients undergoing refractive laser surgery\nI: LASIK (will receive 100 mmHg of pressure for 45 seconds during the procedure) or 100 mmHg of pressure for 45 seconds.\nO: change in RNFLT (retina nerve fiber layer thickness).\nThese were not randomized trials but were prospective consecutive cases.\nParticipants were appropriately allocated to intervention. The groups appeared equivalent (all normal eyes) and had low risk of selection bias with strong internal validity.\nIt was not possible to \"blind\" due the nature of intervention. However, the outcome measures are objective that will reduce the threat to internal validity.\nAll the participants in these two studies were accounted for at the conclusion. The follow-up rates were 100% that increase both the internal and external validity.\nThe data collection and the follow-up were done in the same way. (This increases internal validity.)\nThe power calculations were not mentioned in the either of the two studies. It is a decrease of external validity. However, Hamada's.Study may have enough power with 53 participants for a single outcome measurement.\nThe result showed no statistically difference in RNFLT (retina nerve fiber layer thickness) before and after the application of pressure (100 mmHg) to the normal eye ball during LASIK or for the experiment for 45 seconds in 2 minutes, one month, 7 month, and 13 month.\nNo confidence interval was reported in the two studies.\nThe internal and external validities were good in the studies for using locally.\nSince glaucoma patients are contraindicated for LASIK surgery and it is a rare to see patients having sick optic disc desire laser refractive surgery, there are neither systematic reviews nor randomized control studies available as reference for this case. Furthermore, the alternative laser refractive procedure such as PRK is available for those suspicious cases; most surgeons will choose the alternative way to avoid catastrophic result.\nThe two experimental studies showed no statistically difference in RNFLT (retina nerve fiber layer thickness) before and after the application of pressure (100 mmHg) to the eye ball during LASIK or for 45 seconds in normal eyes. It revealed the safety of LASIK to normal eyes with the application of 100 mmHg pressure for 45 seconds during surgery by quantitatively measuring the change of nerve fiber thickness using scanning laser tomography or nerve fiber analyzer (laser diagnostic technology).\nAll the cases that report with abnormal optic nerve showed severe vision decrease due to LASIK. The case series of Lee had two identical conditions of this case (optic disc edema) and suffered severe vision loss after LASIK. However, in Cameron's case with normal optic nerve before operation, there was development of optic neuropathy after LASIK.",
"gender": "Female"
}
] |
PMC3350232
|
[
{
"age": 43,
"case_id": "PMC8464216_01",
"case_text": "A 43-year-old female patient with no significant medical history consulted for a headache of abrupt onset and rapidly increasing intensity and resistant to analgesics. She was not known to be hypertensive or addicted to drugs and had no personal or family history of bleeding disorders. She was conscious on admission and had no signs of focalization or meningeal syndrome. Her blood pressure, heart rate and temperature were respectively of 140/80 mmHg, 120 beats/min and 37 C. Non contrast cerebral CT scan revealed a compressive left fronto-parietal subdural hematoma (Figure 1). Routine hemostasis tests showed a platelet count of 130 giga/l, a prothrombin level of 70% and an activated partial thromboplastin time (aPTT) of 12 seconds. Surgical evacuation had been performed but the success of the procedure was short-lived as the hematoma had rapidly reconstructed to indicate neurosurgical re-intervention under massive infusion of fresh frozen plasma associated with repeated injections of tranexamic acid. In addition, cerebral magnetic resonance angiography did not show any underlying arteriovenous abnormalities (Figure 2). We maintained daily infusions of fresh frozen plasma (600 mL/d) and tranexamic acid and the post-operative clinical course was satisfactory (Figure 3).\nThe spontaneous nature of the subdural hematoma associated with a normal hemostasis assessment suggested the hypothesis of an underlying \"occult\" coagulopathy. We measured factor XIII activity by photometric method and found a low rate of 41% (normal value: 70-140); the biological assessment showed a non-regenerative normochrome normocytic anemia at 7 g/dl, leuko-neutropenia at 3.6 giga/l without thrombocytopenia, C3/C4 hypocomplementemia and polyclonal hypergammaglobulinemia. Bone marrow biopsy and thoraco-abdomino-pelvic CT scan were unremarkable. Antinuclear antibody testing was positive at a rate of 1/1280 with specificity for anti-dsDNA, anti-SSA/Ro and anti-SSB/La (Figure 4). The antiphospholipid antibody test was negative. Liver function, renal function and 24-hour proteinuria were normal.\nAll clinical and immunobiological findings were consistent with the diagnosis of systemic lupus erythematosus (SLE) with hematologic tropism. Biopsy of the accessory salivary glands was discussed, looking for Gougerot syndrome associated with SLE. However, due to the hemorrhagic risk associated, this invasive procedure was not performed. The discovery of SLE had raised the possibility of an anti-factor XIII autoantibody, but this had not been sought in our context. The patient received an initial bolus of methylprednisolone 15 mg/kg/day for 3 days followed by oral relay at a dose of 1 mg/kg/day of prednisone combined with hydroxy chloroquine 200 mg twice daily at patient s discharge. She was seen 1 month later and then every 3 to 6 months. The treatment was well observed with good tolerance. Three years later, the patient is free of treatement with no recurrence of hemorrhage, a normal blood count and a factor XIII level of 143%.",
"gender": "Female"
}
] |
PMC8464216
|
[
{
"age": 76,
"case_id": "PMC6915124_01",
"case_text": "A 76-year-old male with stage IV, small bowel NET metastatic to the liver had been followed by our institution for 4 years with stable hepatic metastatic disease on octreotide long-acting release (LAR) therapy. Originally, the tumor Ki-67 index was 5% and 24-hour urine 5-hydroxyindole acetic acid (5-HIAA) was 105 mg. The patient presented with mild progression of disease on abdominal magnetic resonance imaging (MRI) (Figure 1) after approximately 4 years of stable disease. Six months following this abdominal MRI, the patient developed bilateral lower extremity swelling, weight gain, and bloating lasting over 1 month. The serum brain-natriuretic peptide (BNP) value was 161 pg/ml (normal range < 100 pg/ml). N-terminal proBNP and other cardiac biomarkers were not available. Transthoracic echocardiogram showed tricuspid regurgitation and right ventricular wall thickening with an echogenic mass in the RV free wall extending to the RV outflow tract. There was severe malcoaptation of the thickened tricuspid valve leaflets. Tricuspid regurgitation was described as widely open regurgitation with a peak regurgitant flow velocity of 203 cm/s. Of note, the aortic and mitral valves were structurally normal without stenosis or regurgitation. Cardiac magnetic resonance (CMR) was obtained for further evaluation.\nCMR (Figure 2) showed a 2.6 cm lesion in the right ventricular free wall and a 2.4 cm lesion in the left ventricular anteroseptal wall. These lesions demonstrated high T2-weighted signal and isointense T1-weighted signal with postcontrast perfusion, findings compatible with myocardial metastases. Of note, the RV free wall lesion extended superiorly near the base of the tricuspid valve annular region. Balanced cine steady state free precession (bSSFP) images showed abnormal thickening of the anterior tricuspid valve leaflet, and the leaflet did not coapt normally during systole contributing to severe tricuspid regurgitation. The right atrium was moderately dilated.\nThe patient underwent bioprosthetic tricuspid valve replacement and biopsy and debulking of the myocardial tumors. The myocardial tumors were histologically confirmed as NET metastases. The patient recovered well from surgery, and follow-up clinical visits demonstrated significant improvement in his carcinoid heart disease. As of the latest visit, the patient has excellent cardiac function with resolution of tricuspid regurgitation. His 9-month postoperative follow-up CT scan showed relatively stable disease, and his urine 5-HIAA was improving. The patient is continuing on octreotide LAR 30 mg.",
"gender": "Male"
}
] |
PMC6915124
|
[
{
"age": null,
"case_id": "PMC3201100_01",
"case_text": "An elderly male patient in his 60's with a 150 pack year history of smoking, chronic obstructive pulmonary disease, hiatal hernia, gastroesophageal reflux disease, and coronary artery disease presented to the emergency room complaining of a three-week history of incessant forceful cough and right-sided chest pain in the absence of trauma. He required emergent uneventful endotracheal intubation and mechanical ventilation for hypoxic respiratory failure upon arrival to the emergency room. Pertinent medications included oral aspirin 325 mg and clopidogrel 75 mg daily.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC3201100_02",
"case_text": "Physical examination revealed an obese male with a heart rate of 110 beats per minute and blood pressure 135/80 mmHg. Decreased breath sounds over the right lung with overlying severe right anterior chest wall ecchymosis and subcutaneous edema were noted. No clinical signs of heart failure were present on physical exam.\nLaboratory testing included an arterial blood gas with a pH 7.28, PaO2 107 mmHg (100% FiO2), PCO2 43 mmHg, HCO3 20 meq/L, hemoglobin 11.5 g/dL, and white blood cell count 23,100 cm2. Chest X-Ray (CXR) on presentation (Fig. 1) revealed minimal opacity at the right lung base and blunting of the left costophrenic angle. Computed tomography (CT) of the chest (Fig. 2) revealed a dramatic lateral herniation of the right lung at the seventh intercostal space without evidence of any overlying rib fractures. Current radiologic findings were compared to images from a prior CT scan performed five months earlier which demonstrated symmetrically developed thoracic cage muscles without evidence for fracture or herniation.\nInitial management in the medical Intensive Care Unit (ICU) included intravenous sedation and low tidal volume ventilation with attention to peak airway pressures and permissive hypercapnea given the high risk for incarceration and potential advancement of the lung herniation. An initial conservative strategy was opted for given the patient's overall co-morbidities contributing to high surgical risk and having no evidence for impending lung incarceration.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC3201100_03",
"case_text": "Repeat CT chest in 24 hours revealed multi-lobar infiltrates. The previously identified lung herniation was no longer visualized but an extensive extra pleural collection consistent with a large hematoma remained. Patient remained on intravenous antibiotics during this time but blood and sputum cultures showed no growth of organisms. Repeat chest CT eight days later showed right anterior abdominal intramuscular hemorrhage. Examination showed expanding hematoma (Fig. 3). Radiological studies supported evidence for contralateral acute lung injury, making mechanical ventilation and oxygenation very challenging.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC3201100_04",
"case_text": "Other ICU complications included persistently high fevers despite broad-spectrum antibiotics, intra-cerebral hemorrhage due to cerebral amyloid angiopathy, and ST segment elevation myocardial infarction. His hospital course was further complicated by anoxic encephalopathy due to inability to maintain adequate gaseous exchange. Aggressive medical care was stopped after several weeks of ICU care. The patient expired soon after.",
"gender": "Male"
}
] |
PMC3201100
|
[
{
"age": 36,
"case_id": "PMC7086418_01",
"case_text": "A 36-year-old male presented to the emergency department with complaints of acute (approximately 1-hour evolution) and painless visual loss of the right eye. He was promptly observed by ophthalmology that determined a fully preserved (6/6) visual acuity of the left eye but near blindness of the right eye (6/60). The patient was agitated but had no other complaints. At inspection, the eye had no signs of infection or trauma. Neurological exam did not identify any change: sensory and motor examinations were normal and there was no facial asymmetry, aphasia, dysarthria, or dysmetria. Oculomotor movements and pupillary reflexes were preserved.\nPrevious medical history included a known bicuspid aortic valve disease. 2 years later, and after a dental procedure, the patient developed an aortic valve endocarditis due to an infection from Streptococcus sanguinis. This led to an ischemic stroke, from which the patient recovered completely. He was under antibiogram-directed antibiotic therapy for 1 month when a second stroke happened, and he was then submitted to an urgent surgical replacement of the aortic valve for a mechanical prosthesis that went well. He was discharged with a transthoracic echo referring a normofunctional prosthesis with no other significant alterations and an indication for warfarin therapy for INR target between 2 and 3. At the time of presentation of this case, the patient had medical records available that confirmed INR values between 2 and 2.5 for the last year.\nDifferential diagnosis for single eye acute visual loss includes an acute stroke/transient ischemic accident, compressive lesion, trauma, infection, Purtscher retinopathy and occlusion of the central retinal artery due to either atherosclerotic disease, embolism, arteritis or the presence of a hypercoagulable state (due to neoplastic disease or inherited pro-coagulative diseases, for example).\nA fundoscopic exam was immediately performed and identified the foveola assuming a cherry red spot-like image with retinal whitening, which suggested that the visual loss had been caused by a central retinal artery occlusion (Figure 1(a)). Due to the patient's previous medical history, cardiology observation was required to search for a cardiac source of embolism. The patient's physical exam was normal, with cardiac auscultation identifying a clear metallic click as the second cardiac sound and a slight nonradiating systolic murmur (I/VI). A TTE was performed, showing a nonobstructive aortic prosthesis and a periprosthetic echolucent pulsatile region with a hyperechogenic mobile round structure inside (Figures 1(b) and 2). To better characterize these findings, a TOE was performed (Figures 1(c), 1(d), 3, and 4) revealing a free hyperechogenic highly mobile structure suggestive of a free thrombus inside a pseudoaneurysm in the mitral-aortic intervalvular fibrosa, protruding into the left ventricular outflow tract through a small communication orifice (supplementary material and ).\nIn the acute setting in the emergency department, treatment consisted of the intermittent digital massage of the affected eye and the use of ocular hypotensive drugs and intravenous acetazolamide. The patient had a partial recovery of right eye visual acuity to 6/12. After 3 months of INR-adjusted warfarin treatment for target 3.0-3.5, the patient was submitted to a surgical pseudoaneurysm closure with a synthetic patch.\nSince surgical pseudoaneurysm closure, and after the 1-year follow-up, the patient had no other embolic event. Visual acuity had no further improvements.",
"gender": "Male"
}
] |
PMC7086418
|
[
{
"age": 24,
"case_id": "PMC8039197_01",
"case_text": "A 24-year-old lady on APD for almost two years secondary to type 1 diabetes mellitus. She was first diagnosed with type 1 diabetes mellitus at the age of 7. She has diabetic proliferative retinopathy and diabetic neuropathy with no previous history of peritonitis. She had two previous admissions 10 years ago due of diabetic ketoacidosis. She presented to our PD Unit on April 2020 with a history of lower abdominal pain for 3-days duration. The pain was moderate in severity, non-radiating, with no relieving or aggravating factors. It was not associated with fever, nausea, vomiting or turbid discoloration of PD fluid. There was no history of urinary symptoms or diarrhea or previous episodes of peritonitis.\nThe patient was vitally and clinical stable Her physical examination showed blood pressure of 125/70 mmHg, pulse rate of 90/min, respiratory rate of 18/min and temperature of 37.8 C. She has left eye diabetic proliferative retinopathy in addition to bilateral legs neuropathy and dermopathy. Her abdominal examination showed no evidence of hepatosplenomegaly. Her superficial palpation revealed mild tenderness in hypogastric area. The rest of her clinical examinations were unremarkable. Her investigations were normal apart from white blood cell count of 4500/microliter, hemoglobin of 10.6 gm/dL and glycated hemoglobin of 6.7%. She was well controlled on glargine 20 at bedtime and aspart insulin 3 units with meals.\nThe PD fluid was clear with no exit site discharge. PD fluid analysis, gram stain and culture were requested, and the patient was treated as a case of peritonitis and 1gm of ceftriaxone IP and 1gm of vancomycin IP were given as per our protocol. Her PD fluid analysis confirmed the presence of peritonitis with WBC >200, however, the initial results of PD fluid gram stain and cultures as well as exit site cultures all came negative.\nThe patient was receiving her daily dose of IP ceftriaxone when the second aerobic culture of the peritoneal fluid confirmed the presence of Bacillus licheniformis. Upon further questioning, she admitted having a cat and a dog at home. The antibiotic regimen was changed to 1000 mg of Vancomycin at 4 days interval and adjusted according to Vancomycin blood level with target of 10-15 mg/liter. The patient recovered completely from her peritonitis and did not develop any recurrence of her peritonitis over 6 months follow up following her course of treatment with Vancomycin.",
"gender": "Female"
}
] |
PMC8039197
|
[
{
"age": 27,
"case_id": "PMC6376526_01",
"case_text": "A 27-year-old Caucasian gentleman was referred to the plastic surgery outpatient clinic with a 7 month history of pain and swelling of his left middle toe. The cause of his symptoms was unclear, with the patient linking the episode to minor trauma. Initially, he had seen a chiropodist who diagnosed him with an in-grown toenail. The toenail was subsequently removed; however, his symptoms worsened. At this stage, he was noted to have subungual discolouration. A punch biopsy was performed with histology demonstrating a pigmented keratinous disc, and he was subsequently referred to our service as a possible case of malignant melanoma.\nHe has no other significant past medical history and did not take any regular medication. He smoked approximately 10 cigarettes per day since aged 15.\nUpon review in clinic, he was found to have an ulcerated area over the dorsum of his left middle toe with associated erythema and swelling, which was actively discharging pus but good peripheral pulses. He also reported a 6-week history of similar symptoms on his left index finger, over the dorsum of the proximal inter-phalangeal joint (PIPJ) which had appeared spontaneously. He had been treated with several courses of oral antibiotics by his general practitioner with no improvement. He was admitted acutely for intravenous antibiotics, surgical exploration and washout of both digits, and a biopsy of the left middle toe for microbiology and histology to rule out osteomyelitis and malignant melanoma. Initial biopsy of the nail bed excluded malignancy and instead showed acute inflammatory changes. The index finger defect was further debrided and closed with a local flap.\nFollowing this initial surgical intervention, the patient went on to have a long and protracted clinical course from complications of poor wound healing and necrosis, with multiple hospital admissions over a 15-month period. He was reviewed by the vascular team with full assessment of peripheral vasculature using ankle-brachial pressure index and computed tomography (CT) angiography which did not identify a specific cause for his necrotic digits. He developed osteomyelitis of both the left third toe and left index finger, which required amputation to prevent proximal spread of infection. A clinical diagnosis of TAO was suspected when he developed similar symptoms in the adjacent left second toe 2 months after initial presentation. Negative autoimmune, vasculitic and coagulopathy screening blood tests, including anti-neutrophil cytoplasm antibodies (ANCA), erythrocyte sedimentation rate, anti-cardiolipin antibodies, anti-thrombin, proteins C and S, supported the diagnosis. Genotyping for prothrombin mutations was negative; however, the patient was positive for homozygous factor V Leiden mutation. Verbal smoking cessation advice was reinforced frequently; however, the patient found complete abstinence difficult. This ultimately resulted in a Ray amputation of the second and third toes due continued non-healing (Figure 1). Following this, he underwent a short period of remission. Unfortunately due to ongoing use of tobacco, symptoms recurred in the contralateral and dominant right hand affecting his index and middle finger tips (Figure 2A and B). The right index finger became gangrenous and required amputation. During the procedure, a segment of digital artery was biopsied. Histopathologic analysis showed evidence of chronic inflammation with lymphocytic arteritis and thrombosis, confirming a diagnosis of TAO (Figure 3).",
"gender": "Male"
}
] |
PMC6376526
|
[
{
"age": null,
"case_id": "PMC9148238_01",
"case_text": "Our patient is a 32 y/o male with end-stage renal disease secondary to DM type 2. Past medical history was significant for congestive heart failure (CHF), diabetic neuropathy with foot ulcer, and obstructive sleep apnea (OSA). He was on hemodialysis (HD) since 10/2017. He was evaluated by our multidisciplinary team and approved for a kidney transplant. A suitable donor became available, and he underwent kidney transplant in March 2021.\nThe surgery was performed using the standard technique; the renal artery was anastomosed to the external iliac artery in an end to side fashion. The renal vein was anastomosed to the external iliac vein in an end to side fashion. The ureter was anastomosed to the bladder and imbricated to form a nonrefluxing anastomosis.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC9148238_02",
"case_text": "The surgery was uneventful. Intraoperatively, the patient remained hemodynamically stable with no episodes of hypotension; the patient had an average MAP (mean arterial pressure) of around 75 mmHg. Reperfusion of the kidney perfused well.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC9148238_03",
"case_text": "On postoperative day 1, the patient complained of weakness of both his legs and loss of sensation. On examination, the patient had normal muscle tone, power of 0/5 throughout his lower limbs, and absent lower limb reflexes.\nLight, touch, temperature, and pin-prick sensations were absent below the midthigh bilaterally while vibration was reduced throughout bilaterally.\nA CT AP was done, which was normal.\nAn MRI of the brain and the spine was done which showed a small basal ganglia infarct and an infarct of the spinal cord at the level of T5-6 (Figures 1 and 2)",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC9148238_04",
"case_text": "Neurology and neurosurgery were consulted; based on their recommendation, the patient was planned to be managed conservatively and maintain his MAP > 85 mmHg.\nA MR angiogram of the cerebrospinal vessels was performed which did not show any significant stenosis Figure 3.\nAn echocardiogram was done which was significant for left ventricular hypertrophy. A bubble study done at the time did not demonstrate any shunts.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC9148238_05",
"case_text": "The patient received induction immunosuppression with ATG and prednisone taper as per our institution protocol and maintenance immunosuppression with mycophenolate and tacrolimus (Figure 4).\nHe had delayed graft function and required dialysis twice, and kidney function stabilized without the need for dialysis by the time of discharge.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC9148238_06",
"case_text": "The patient was discharged to a rehab facility for spinal cord rehab. At the time of discharge, he had a power of 1/5. He needed intermittent straight catheterizations to drain his bladder and required suppositories every few days to help with his defecation.\nHe was readmitted twice, for a UTI the first time. He was evaluated for a diabetic foot ulcer with concerns for osteomyelitis in this admission; a foot MRI was done which showed osteomyelitis of the fourth and fifth metatarsal heads. He was not willing for debridement and resection of the infected bone and instead preferred prolonged IV antibiotics to treat this.\nHe was admitted for the second time with worsening sacral decubitus ulcers, and a diverting loop colostomy was done to aid with healing. His nonhealing diabetic foot ulcer was again reassessed. He underwent wound debridement and ray amputation of the fourth and fifth toes during this admission.\nHe continues to be followed up in clinic. At the time of submission, he continues to live in a rehab facility; his kidney function is at his posttransplant baseline.",
"gender": "Male"
}
] |
PMC9148238
|
[
{
"age": 11,
"case_id": "PMC9344096_01",
"case_text": "A previously healthy 11-year-old girl presents with a 4-week history of postprandial abdominal pain. Outside hospital labs were significant for leukocytosis with predominant eosinophilia, hypoalbuminemia, and elevated lipase. Computed tomographic scan revealed large ascites and a mildly dilated pancreatic duct. Ultrasound showed neither gallstones nor dilated bile ducts. Due to her history of epigastric abdominal pain with elevated lipase level, she was diagnosed with acute pancreatitis complicated by ascites and was subsequently transferred to our institution for further evaluation and management.\nUpon arrival, her physical examination was significant for an ill, dehydrated, and cachectic-appearing prepubescent white girl. She was found to have abdominal distention with fluid wave. She was nontender to palpation without peritoneal signs. Her history was significant for associated fever and decreased appetite with 10 lb weight loss since the onset of her abdominal pain. She had no significant past medial history with no known medication ingestion prior to presentation and no history of trauma. She had no known family history of GI diseases, malignancy, or pancreatitis. She had no history of alcohol use, smoking, or illicit drug use.\nHer baseline labs at time of admission confirmed leukocytosis with white count 16 300/mm3 with 40% eosinophils and absolute eosinophil count of 6520/mm3. Her lipase was elevated at 862 U/L and albumin was low at 2.4 g/dL. All other labs were grossly within normal limits on admission.\nOur patient subsequently underwent a workup for eosinophilic-predominant pancreatitis of unknown etiology complicated by large ascites.",
"gender": "Female"
}
] |
PMC9344096
|
[
{
"age": 23,
"case_id": "PMC4898292_01",
"case_text": "A 23-year-old female was discharged from inpatient medical care following treatment for thyrotoxicosis with secondary electrolyte abnormalities. She returned 24 hours after discharge with recurrent vomiting and several episodes of nonbloody diarrhea, profuse drooling, and repeated falls when she attempted to stand or walk. The patient had not been able to tolerate any oral medications since discharge secondary to emesis. An admission CT scan revealed a small-bowel obstruction, possibly due to superior mesenteric artery syndrome. She was considered unstable for surgical management at the time and was treated conservatively, including placement of a nasogastric tube. On hospital day 16, a weighted-tip nasoenteral feeding tube (Corflo-Ultra NG, 8Fr x 43\" 7gm, CorPak MedSystems, Wheeling, IL) was passed under fluoroscopic guidance beyond the obstruction. Subsequent feeds were well tolerated. A CT scan on the day of discharge demonstrated the radio-opaque weighted tip of the feeding tube in the proximal jejunum. She was discharged on hospital day 26 with the feeding tube for nightly feeds until her scheduled followup with the surgery service.\nThirty-eight days after discharge:47 days after placement of the nasoenteral tube:the patient returned for an outpatient KUB and upper GI series to re-evaluate the small-bowel obstruction. Fluoroscopy showed eight metallic-density foreign objects dispersed throughout the ascending and descending colon (Fig. 1). The weighted tip of the enteral feeding tube showed additional metallic-density disks malaligned within the casing and contour irregularity, suggesting a defect in the casing wall. The upper GI series showed resolution of the small-bowel obstruction. The company confirmed that the weighted tip of an intact enteral feeding tube contains 23 titanium disks. Although requested by the radiology service, the patient has not returned the defective tube for further evaluation. At the time of contact, she was not having further gastrointestinal difficulties.",
"gender": "Female"
}
] |
PMC4898292
|
[
{
"age": 41,
"case_id": "PMC10276592_01",
"case_text": "The patient was a 41-year-old male (body weight of 70 kg) who was admitted to the Kidney Critical Unit of Jiangsu Province Hospital due to recurrent fever for more than 10 days. The patient had a history of uremia for more than 10 years. He had been receiving continuous renal replacement therapy via hemodialysis. The patient got a fever (38.6 C) and chills for unknown reason about 10 days prior. Oral prednisone and ibuprofen suspension were used to help control the fever of unknown origin but only contained the temperature temporarily. Echocardiography and laboratory tests confirmed the diagnosis of acute IE caused by MRSA, which was isolated from sputum and blood culture. A local hospital had used vancomycin plus moxifloxacin to treat IE which failed. The patient also had a history of restless leg syndrome for 9 years and thoracic trauma in March 2021.\nAt the time of admission, the patient had a clear mind in thinking. Physical examination showed body temperature of 36.8 C, respiratory frequency 25 breaths per minute, heart rate 124 beats per minute, and blood pressure 107/75 mmHg. Wet rales were heard on both lungs. Chest CT scan identified multiple patchy nodular opacities with cavities in both lungs. Systolic heart murmur was heard over the tricuspid valve area. Echocardiography revealed the presence of tricuspid valve vegetation along with left heart enlargement and abnormal ventricular wall movement. Moderate reflux of mitral valve and tricuspid valve and reduction of left ventricular contractile function were also confirmed (Supplementary Video 1). The left ventricular ejection fraction was about 20%. Initial laboratory tests showed significant leukocytosis (WBC 21.4x109/L) and neutrophils predominance (90.1%), decreased lymphocytes (1.1x109/L), anemia (hemoglobin of 6.8 g/dL), and platelet count of 260x109/L. Serum procalcitonin was elevated to 1.55 ng/mL (normal range: 0-0.5 ng/mL) and N-terminal pro-B-type natriuretic peptide (NT-proBNP) was also significantly higher (>35,000 pg/mL) than normal range (<125 pg/mL). MRSA was isolated from sputum and blood culture repeatedly (on July 8, July 17, and July 24). This clinical evidence confirmed the diagnosis of right heart IE due to MRSA (Table 1).\nVancomycin (1.0 g q12h) and moxifloxacin were used to control infection initially in accordance with the guideline for management of IE and the results of antimicrobial susceptibility testing. However, the patient had recurrent fever up to 39.0 C until admission to our hospital. After admission, moxifloxacin was switched to daptomycin (420 mg qd) plus cefoperazone-sulbactam (3.0 g q8h) empirically considering the potent activities of daptomycin against MRSA and possible Gram-negative bacterial infection. Emergency surgical procedures were carried out to remove the vegetation on the tricuspid papillary muscle and replace the tricuspid valve. Unfortunately, fever remained after the operation, which was considered partly due to bloodstream and pulmonary MRSA infection. Secondary Acinetobacter baumannii infection was also possible because a new infection was detected by chest radiography. Vancomycin was combined with daptomycin to control MRSA infection because daptomycin alone was insufficient. Considering the severe underlying disease of the patient, nephrotoxicity of vancomycin, and possible bleeding tendency due to oral anticoagulants after surgery, the anti-MRSA regimen was further adjusted. Contezolid 800 mg was administered orally twice daily to replace vancomycin to target MRSA. Tigecycline and meropenem were also used to deal with the secondary pulmonary infection caused by A. baumannii. The clinical symptoms were resolved and the temperature was normlalized 15 days after contezolid add-on therapy (Figure 1). The subsequent blood culture was negative. \nAt the 3-month follow-up since the diagnosis of IE, no relapse of infection or drug-related adverse reaction was reported. The latest follow-up laboratory tests on February 14, 2022 (6 months after discharge from hospital) did not show any symptoms or signs of IE. The liver function and coagulation tests were generally normal except slight bleeding tendency, evidenced by prothrombin time of 15.9 seconds (normal range: 10.2-12.9) and international normalized ratio of 1.35 (normal range: 0.87-1.16). Overall, the refractory IE caused by MRSA was successfully treated with oral contezolid 800 mg every 12 hours (twice daily) for 45 days.",
"gender": "Male"
}
] |
PMC10276592
|
[
{
"age": 0,
"case_id": "PMC9990766_01",
"case_text": "A male infant was born at term through uncomplicated vaginal delivery without instrument-assistance or fetal scalp electrodes. A left-sided CH was noted post-partum. At 3 weeks old, he presented to an outside institution with 1-day of fever, emesis, and diarrhea. He was started empirically on IV ampicillin and gentamicin, and infectious workup later revealed pan-sensitive E. coli bacteremia, urinary tract infection, and meningitis. After initial clinical improvement, he was transitioned to monotherapy with IV ampicillin. Shortly thereafter, he became febrile again, so cultures were redrawn and a head ultrasound performed, which was largely unrevealing. The patient was transferred to our institution for further management [Table 1].",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC9990766_02",
"case_text": "On arrival, he was noted to have a large, benign-appearing CH, and a reassuring physical examination, despite being febrile with a rising C-reactive protein (CRP). Magnetic resonance imaging (MRI) of the brain did not reveal any acute intracranial processes or definitive signs of CH infection [Figure 2]. Over the following days, the patient was transitioned to IV ceftriaxone for an up-trending fever curve [Figure 3]. A sterile bedside tap was performed with return of 2 mL of bloody aspirate; cultures and gram stain were negative. The patient remained intermittently febrile and after a multidisciplinary discussion, he was taken for an I&D. Intraoperatively, no gross purulence or abnormalities of the underlying bone were identified. Histopathological examination confirmed a diagnosis of CH without infection or organisms. All surgical cultures and gram stain were negative. The patient tolerated the procedure with no complications.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC9990766_03",
"case_text": "Our patient became afebrile on postoperative day (POD)1 and remained clinically improved for the remainder of his hospitalization [Figure 3]. After surgical drain removal and PICC line placement, he was discharged on POD6 with a 21-day course of IV ceftriaxone. The patient was seen in clinic on POD12 and noted to be doing well with no reaccumulation of the CH.\nA MEDLINE search was conducted using the keyword \"cephalohematoma.\" Full-text, English-language articles were reviewed for management and outcomes of infected CH. This resulted in 25 publications, documenting 58 cases [Table 2].\nThe majority of cases 52% (n = 30) had one or more concurrent infections, while 48% (n = 28) did not have any. E. coli was the most common organism isolated (n = 32; 55%), followed by polymicrobial infections (n = 8; 14%). Only one case reported no growth in the CH culture despite Gram-negative rods noted on gram stain.\nAll patients were treated with IV antibiotics; some followed by a course of oral antibiotics. Duration varied from 10 days to 6 weeks, depending on concerns for osteomyelitis or other concurrent infections. The majority were treated with needle aspiration alone (n = 34/58). Surgical I&D was performed in 23 cases, sometimes after needle aspiration (n = 13). One case was successfully treated with IV antibiotics alone. The most common complications of infected CH were osteomyelitis (n = 10), and overlying scalp necrosis or abscess (n = 9). The mortality rate of cases reported in our literature review was 8.6% (n = 5/58; range 0-11%).",
"gender": "Male"
}
] |
PMC9990766
|
[
{
"age": 60,
"case_id": "PMC3350277_01",
"case_text": "A 60-year-old male reported with the complaints of throat pain and hoarseness of voice for 3 months. The patient had been smoking 2 packs of cigarette per day for the past 25 years. Direct laryngoscopy revealed a 2 cm growth below the vocal cords. Contrast Enhanced Computed Tomography (CECT) of neck showed growth in subglottic region, and CECT thorax and abdomen showed multiple hypodense lesions in both the lobes of liver suggestive of metastasis (Figure 1). \nA biopsy was taken from the lesion, and histopathological examination revealed small round cells with scant amount of cytoplasm and hyperchromatic nuclei suggestive of a round cell tumor (Figure 2).\nImmunohistochemistry (IHC) examination showed that the tumor cells were positive for synaptophysin (Figure 3) and cytokeratin. CD-20, CD-3, and LCA were negative. So the diagnosis of small cell carcinoma was made.\nThe patient was given palliative external radiotherapy in a dose of 20 Gy in five fractions over one week. After the completion of radiotherapy the patient was given combination chemotherapy with cisplatin and etoposide. The general condition of the patient improved initially with therapy and he remained asymptomatic with disease for almost 10 months after which he developed bone pains. A radioisotope bone scan revealed multiple skeletal metastases. The general condition of the patient was too poor to tolerate any chemotherapy. He was offered best supportive care but he succumbed to his disease 12 months after diagnosis.",
"gender": "Male"
}
] |
PMC3350277
|
[
{
"age": 46,
"case_id": "PMC4422723_01",
"case_text": "This 46-year-old, right-handed woman reported, at the age of 20, experiencing several brief episodes characterized by abnormal hearing followed by loss of consciousness on one occasion, after which she was discharged from the hospital with a diagnosis of partial epilepsy. Since then, she has had no more auditory symptoms, later classified as auras, despite having 5-6 seizures per month that she describes as sudden moments during which she cannot speak but is aware of her environment. After an attack, however, she often finds herself on the floor, unaware that she has fallen. Witnesses recalled right-sided mouth deviation, right-hand fiddling, and dystonic posturing of the left hand, followed by generalised convulsions. Standard EEG showed runs of sharp waves and rarer slow waves over the right frontotemporal leads. The MRI scan revealed no morphological abnormalities. The sEEG, subsequent to other imaging exams (hdEEG and ASL), pointed to an epileptogenic zone located over the right temporal pole, mainly involving the superior (T1) and middle (T2) temporal gyri. The patient underwent surgical removal of these portions, and has been seizure-free ever since (7 months).",
"gender": "Female"
},
{
"age": 62,
"case_id": "PMC4422723_02",
"case_text": "This 62-year-old, right-handed woman suffered repeated episodes of febrile convulsions at the age of 23 months. She remained seizure-free until age 18 years, when she began experiencing brief, sudden episodes of loss of contact that went unnoticed at that time. At the age of 32, she presented a generalized seizure, and a diagnosis of epilepsy was made. Currently, she has 3-4 seizures per month characterized by oral automatism, right-hand fiddling, and left dystonic hand posturing. On repeated occasions, relatives reported brief episodes of incongruous activity, during which she is unresponsive. Standard EEG showed runs of fast, spiky activity over the frontotemporal right leads, sometimes with bilateral expression over the frontal areas. Repeated MRI scans were reportedly normal.",
"gender": "Female"
},
{
"age": 68,
"case_id": "PMC4422723_03",
"case_text": "This 68-year-old, right-handed woman began suffering, at the age of 20, brief, sudden episodes of flushing, sensation of something rising from the stomach to the head followed by intense asthenia. The episodes clustered during a few months every year, then disappeared at the age of 35. Around age 60, they started again, this time associated with pervasive fear: she was initially referred for psychiatric evaluation because of suspected panic attacks. Standard EEG revealed right frontotemporal spikes, and a diagnosis of epilepsy was made. Fluid attenuated inversion recovery (FLAIR) MRI images showed bilateral hippocampal hyperintensity that was more evident on the right side.",
"gender": "Female"
},
{
"age": 48,
"case_id": "PMC4422723_04",
"case_text": "This 48-year-old, right-handed man suffered febrile convulsion episodes at the age of 2 years. At the age of 18, after a secondary generalized seizure, a diagnosis of temporal epilepsy was made. With hindsight, he referred always having had brief episodes of altered sensation associated with something rising from the stomach; witnesses also reported oral automatism. Since then, he has continued to experience weekly seizures despite appropriate drug treatment. Standard EEG showed the presence of sub-continuous spiky activity over the frontotemporal left leads. The MRI scan revealed no morphological abnormalities. The patient has been seizure-free since surgical resection of the left temporal lobe (1 year ago).",
"gender": "Male"
},
{
"age": 48,
"case_id": "PMC4422723_05",
"case_text": "This 48-year-old, right-handed man reported having suffered during childhood brief and sudden episodes of nausea misinterpreted as gastric disturbances at that time. At the age of 30, during hospitalization for injuries sustained in a car accident, a diagnosis of focal epilepsy was made based on EEG data and history. A few partial seizures occurred over the following months, then remitted for 15 years while he was on carbamazepine. At the age of 45, seizures reoccurred weekly, characterized by a rising gastric sensation, tachycardia, and subsequent depersonalization. Witnessed episodes were described as the patient fiddling with his right hand, dystonic posturing of the left arm, oral automatism, and inability to speak. Standard EEG showed only rare anterior temporal spikes, with right predominance. FLAIR MRI images showed mild bilateral hippocampal hyperintensity.",
"gender": "Male"
},
{
"age": 28,
"case_id": "PMC4422723_06",
"case_text": "This 28-year-old, right-handed woman had a positive family history for generalized epilepsy (maternal aunt). At the age of 26, she began experiencing repeated deja vu episodes and uncomfortable feelings sometimes associated with anxiety and tachycardia. She was unaware of subsequent vocalizations, left head version and bilateral hand fiddling, and referred suffering headaches after the symptoms resolved. Antiepileptic treatment was only partially effective. Standard EEG showed left frontotemporal spikes. MRI scans revealed altered signal areas in the right lateral frontobasal lobe, left anteroinferior frontal lobe, medio-posterior portion of the left hippocampus, and at the left frontoparietal junction.\nHdEEG was performed using 256 channels (Electrical Geodesic, Inc., Eugene, OR). The net was adjusted so that Fpz, Cz, Oz, and the pre-auricular points were correctly placed according to the international 10/20 system. The net's geodesic tension structure is such that all electrodes could be evenly distributed over the scalp at approximately the same location in all patients. The data were recorded against a vertex electrode reference (Cz) at a sampling rate of 250 Hz. Patients were seated in a relaxed position; the total EEG recording time was around 40 min.\nThe experiment was performed using a 3T MRI scanner (Allegra, Siemens, Erlangen, Germany) with a standard transmit/receive head coil. For the ASL data, a pulsed PICORE sequence (proximal inversion with a control for off-resonance effects) with the Q2TIPS scheme (QUIPSS II with thin-slice TI1 periodic saturation) was used. Interleaved control and label images (80 volumes) were acquired using a 2D gradient-echo echo-planar imaging (GRE-EPI) readout with the following scan parameters: TR/TE = 3500/16 ms; TI1/TIs/TI2 = 700/1400/1600 ms and 90 flip angle. Sixteen axial slices in ascending order were prescribed and positioned parallel to the anterior-posterior commissure line (3.5x3.5x5 mm3, with an inter-slice gap of 1 mm) in order to cover the presumed focus location. The labeling slice was 10 cm thick and was separated from the proximal slice of the acquisition volume by a 20-mm gap. A calibration scan with the same parameters as the ASL sequence but longer TR (10 s) was also acquired to estimate the equilibrium magnetization of arterial blood (M0b). The overall acquisition time for ASL was approximatively 6 mins, including the additional calibration scan. A high-resolution whole brain anatomical scan was acquired for each subject using a 3D T1-weighted magnetization prepared rapid acquisition gradient echo sequence ([MPRAGE], TR/TE = 2300/3.9 ms; FOV = 192 x 192; matrix = 256 x 256; 176 sagittal slices 1.0 mm in thickness). Other high-resolution anatomical images, including T2-weighted, FLAIR and inversion recovery with 2D readout, were also acquired in order to assess for the presence of structural alterations such as hippocampal sclerosis or malformations of cortical development.\nHdEEG data were analyzed using Cartool software (http://sites.google.com/site/cartoolcommunity/). The T1-weighted anatomical images were used to create a realistic model of the brain for source localization. In each patient, the hdEEG and MRI data and the solution space were restricted to the gray matter. The solution space for the distributed source model contained from 3,028 to 3,088 points uniformly distributed over the gray matter of the brain and mapped onto the spherical head model with anatomical constraints (SMAC) space. The peak of the spike was used as a trigger for averaging in epochs of +-500 ms. Two time frames were chosen to characterize spike topography: the first, from the beginning of the spike to the time point at 50% of the rising phase, was defined as an epoch characterizing a possible source of the spike generator; in the second, an epoch at the peak of the spike was defined as indicating propagation. A standardized source imaging procedure, ([LORETA] low resolution brain electromagnetic tomography) constrained to the individual gray matter, was applied to the averaged spikes. From the ESI, the current density (CD) was quantified at each solution point [muA/mm3].\nASL data were preprocessed and analyzed using FSL 5.0.1 (FMRIB, Oxford, UK) and Matlab 7.14 (MathWorks, Natick, MA) with a dedicated home-made code created for this study. Motion correction was applied separately to the Control and Label volumes using the MCFLIRT tool and taking the first volume as reference. In particular, a six-parameter 3D rigid-body registration with a normalized correlation cost function was used. The ASL calibration scan was used for estimating the coregistration parameters from ASL to the individual T1-weighted image by applying a 3D rigid-body registration with a normalized mutual-information cost function and 7 degrees of freedom.\nAfter these pre-processing steps, surround subtraction was applied to the Control and Label volumes to obtain a 4D matrix representing the perfusion-weighted maps. Unlike what is usually done in ASL studies, DeltaM represents the whole set of perfusion-weighted maps (one volume per repetition) instead of a single perfusion-weighted map obtained by averaging across the repetitions. In this way, a 4D matrix for the CBF parameter can be estimated for each subject and the temporal information given by the different repetitions will allow measurement of the within-subject variance. The standard kinetic model was applied to the 4D DeltaM matrix to estimate the blood flow maps in physiological units [ml/100g/min]. The CBF values were calculated as follows: where DeltaM is the difference signal, TI 1 and TI 2 are the sequence time parameters described above, n is the slice number, slice time is the time taken to acquire each single slice (~ 50ms), T 1B is the longitudinal relaxation time of blood (1664 ms at 3T), and alpha is the inversion efficiency (0.95 for pulsed ASL). M ob was calculated as the ratio between the mean tissue equilibrium magnetization value in a cerebrospinal fluid (CSF) region (from the calibration scan) and the brain-blood partition coefficient.\nFor each subject, the mean and variance values over all repetitions were calculated for the CBF parameter. These maps in ASL space were affine-registered to the individual high-resolution anatomical images by applying the previously estimated transformation matrix. Each T1-weighted image was then registered to the Montreal Neurological Institute (MNI) space with 1x1x1 mm3 resolution using a non-linear method (FNIRT tool in FSL). Finally, the joint ASL/T1-weighted and T1-weighted/MNI space transformation parameters were used to spatially normalize the CBF maps representing the mean and variance values.\nFor each subject, the CBF images in MNI space were intensity normalized to compensate for mean inter-subject perfusion variations. Indeed, voxel-wise ASL detection studies, where the focus is on local variations across the brain, have shown that an intensity normalization step is advised to increase the sensitivity, also due to the large inter-subject variability in global CBF values. The value used for the intensity normalization was equal to the mean CBF in gray matter, applying a threshold of 70% for detecting pure gray matter voxels, similarly to. The partial volume estimates for gray matter were derived from segmentation of the normalized anatomical image using the FAST tool in FSL. In addition, the non-physiological negative perfusion estimates present in the gray matter normalization mask were excluded from the mean CBF calculation in order to define a more reliable reference value.\nFor comparing each patient to the control group, a two-step procedure was performed: construction of a normal perfusion template and then a one-versus-many statistical analysis. The heteroscedastic approach was used in the analysis (mixed-effect model).\nThe first step entailed CBF template construction from the control group images. The template was created using the FLAME 1 (FMRIB's local analysis of mixed effects-stage 1) tool available in FSL software, which uses Bayesian modeling and explicitly accounts for the within-subject variance. For each subject, normalized CBF images representing the mean CBF estimates and the CBF within-subject variance were supplied to the FLAME 1 tool. The data from the healthy subjects were pooled into one group, and the group maps (mean and variance) were estimated with this tool. In a heteroscedastic model, the group variance will reflect both the within-subject and the between-subject variability.\nIn the second step, comparison of the control group versus each single patient was carried out using an unpooled-variance unpaired two-sample t-test in order to consider both the group variance and the patient variance. The t-statistic, for testing whether the estimated patient versus control group means were different, was calculated as: where mu and sigma 2 represent the estimated mean and variance for the patient (p) and the control group (c) respectively, and N represents the number of subjects (17 and 1 for N c and N p, respectively). A negative tvalue indicates that, at the voxel of interest, the mean is higher in the patient than in the control group, thus identifying possibly hyperperfused areas (patient > controls). Conversely, a positive tvalue indicates possible areas of hypoperfusion (patient < controls).\nThe simplest approximation was adopted for defining the degrees of freedom (df), assigning df = n-p-1, where n is the total number of subjects and p the number of fixed (dummy) variables such as subject-specific covariates like age or behavioral data. The same approach was also implemented in the statistic test in FLAME 1 of FSL. A false discovery rate (FDR) correction (q < 0.05) for multiple comparisons was applied to the statistical results to detect the areas of statistically significant alterations in perfusion.\nThe procedure for the automatic detection of patient-specific perfusion abnormalities was applied to the 6 new patients and to the 6 patients evaluated in the previous study in order to further confirm the results and the observations from the region of interest (ROI) analysis.\nFor each patient, the mean CBF map from ASL and ESI results was overlaid on individual T1-weighted anatomical MRI images to combine all of them in the same anatomical space using FSL tools. As in the previous study, a series of ROIs was identified using the Harvard-Oxford Atlas to compare the ESI and ASL results in terms of CD and CBF inside the same areas, using the spatially normalized data. Quantification was restricted to the gray matter, including voxels whose probability to belong to the gray matter was at least 80%. All measures were compared to the contralateral side. The five ROIs with the highest differences in CD and CBF values are reported here. This was done to quantitatively compare the information provided by ASL and ESI and to evaluate the agreement with the results of the statistical analysis. Areas over the epileptic focus are expected to be characterised by high CD values and low CBF values in comparison to the correspondent contralateral ROI, if the patient is in interictal phase.\nIn patients undergoing surgical resection, freedom from seizure following the operation can be considered the ground truth and the most unambiguous proof of correct localization of the epileptogenic focus. In order to assess the localization reliability of the ESI and ASL results, the presurgical information were overlaid on the postoperative MRI scan of each patient to determine whether or not the ESI and ASL maps were congruent and overlapped well with the resected tissue areas. Importantly, although the extension of a resected area tends to be overestimated and larger than the actual epileptogenic zone in most patients, seizure freedom following resection can be taken as proof of correct localization on a sublobar level. Therefore, the preoperative anatomical MRI scan was coregistered with the postoperative scan, and the estimated coregistration parameters were inversely transformed in order to project the postoperative image over the original preoperative scan. To assess the ESI and ASL results, the rising phase of epileptiform activity and the statistical maps were used, respectively, and were overlapped on the coregistered postoperative anatomical image.",
"gender": "Female"
}
] |
PMC4422723
|
[
{
"age": 63,
"case_id": "PMC5551466_01",
"case_text": "A 63-year-old male with ischemic cardiomyopathy and severe left ventricular dysfunction was admitted with chest pain and dyspnea at rest. He was on maximal medical therapy and had received multiple prior percutaneous coronary interventions and two previous coronary artery bypass surgeries. Recent coronary angiography revealed no possibility of further revascularization. He was evaluated for Orthotropic Heart Transplant (OHT) and listed as Status 1A-e (urgent need). His worsening intractable angina and dyspnea necessitated IABP placement via left axillary artery, which significantly improved his condition. Axillary artery was the chosen site of insertion (as opposed to femoral artery) in order to enable ambulation and prevent deconditioning, as the patient was awaiting transplant. The IABP was placed under fluoroscopic guidance, with the tip of the IABP placed few centimeters below the aortic arch, as confirmed radiologically. Following the procedure, the patient complained of new-onset, persistent, throbbing, and burning left-sided frontoparietal pain above the left lateral eyebrow that radiated to the left orbit, with an intensity of 7/10 on the numerical pain scale. It was aggravated by movement and relieved by pressure, with frequent watery eyes without visual changes. He had a remote history of traumatic brain injury due to motor vehicle accident but he denied any subsequent headache.\nExamination revealed tender and bulging left temporal artery suspicious of temporal arteritis (TA); however, his normal erythrocyte sedimentation rate minimized TA as a likely diagnosis. Nonetheless, he was offered prophylactic prednisone, which he refused. Pain management service was consulted and multimodal treatment including acetaminophen, oxycodone, citalopram, and tizanidine was initiated, while nitrates were withheld. The patient reported limited relief and continued to complain of a persistent pain in the same distribution. Subsequently, left supraorbital neuralgia was hypothesized, and gabapentin was initiated with limited benefit. A supraorbital block was offered, which was refused, and patient insisted on discontinuing the IABP.\nIn accordance with patient's wishes, the IABP was weaned and removed, and nitrates were initiated for angina prophylaxis. On postremoval assessment, the patient's headache had completely resolved with no future recurrence. He subsequently received OHT and was discharged with normal EF and no further headaches.",
"gender": "Male"
}
] |
PMC5551466
|
[
{
"age": 67,
"case_id": "PMC8794318_01",
"case_text": "A 67-year-old female patient, complaining a history of poorly responsive bronchitic episodes and atrial fibrillation, underwent radiological work up after detection on January 2018 of a suspicious right upper lobe pulmonary lesion at chest X-ray. CT scan confirmed a right S1 irregular solitary nodule with signs of both mediastinal and parietal pleura involvement with concomitant multiple bilateral lymphadenopaties (stations 3, 4, 5) (February 2018). According to findings, an EBUS-TBNA bronchoscopy was performed on March 2018. The immediate postoperative period was uneventful as no intraoperative injuries, such as vascular or parenchymal ones, were reported. The hospital stay was uneventful and the patient was discharged on POD1. Twenty-four hours later, she was admitted to the Emergency Room Department due to the onset of relapsing episodes of haemoptysis. At admission, no impelling signs of cardiovascular impairment were reported (BP: 145/80 mmHg, HR: 88 beats per minute, T: 36.5 C, SaO2: 95%), as far as neither laboratory nor radiology highlighted any suggestive element for post-procedural complication.\nAt a rapid worsening of patient's clinical conditions requiring emergent oro-tracheal intubation, an urgent fibro-bronchoscopic evaluation showed the presence of an obstructive and non-viable subglottic formation with unsuccessful attempts of disobstruction till the onset of an irreversible cardio-circulatory arrest (Figure 1) due to acute respiratory distress and airway engorgement asphyxia. On autopsy, both lungs presented evident bloody polygonal areas alternating with compensatory emphysema ones. After en-bloc sampling of the airways, esophagus and heart, the section of the tracheal pars membranacea highlighted the presence of a blood clot that extended from the middle third of the tracheal lumen to the terminal bronchioles of both lungs (Figures 2,3).\nAll procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and national research committees and with the Helsinki Declaration (as revised in 2013). No written informed consent has been obtained as anonymous data have been reported.",
"gender": "Female"
}
] |
PMC8794318
|
[
{
"age": 60,
"case_id": "PMC8463768_01",
"case_text": "A 60-year-old male smoker with hypertension and hyperlipidemia presented with a 1-week history of intermittent left hemi-facial numbness and left arm dysmetria. He had difficulty gripping objects and tying his bandana. Review of systems were otherwise negative and initial labs were unremarkable. He had a 60 pack-year smoking history and significant daily alcohol consumption for more than 20 years.\nNon-contrast head CT demonstrated a right parietal lobe mass. MRI of the brain revealed a heterogeneously-enhancing 2.8-cm mass with irregular, nodular rim enhancement and extensive perilesional edema (Fig. 1). The patient was subsequently initiated on high-dose dexamethasone.\nA CT of the chest/abdomen/pelvis revealed a 3.3-cm spiculated mass in the left lower lobe and a 1.7-cm lesion in the right upper lobe along with mediastinal and left peribronchial lymphadenopathy. These findings were suspicious for primary lung cancer with metastases. CT-guided lung biopsy of the left lower lobe lesion revealed adenocarcinoma. Evaluation with PET-CT demonstrated markedly increased FDG activity in both the left lower lobe mass with associated satellite nodules and the right apical mass as well as metastatic mediastinal and left peribronchial lymphadenopathy (Fig. 2). The tumor cells demonstrated high expression of PD-L1 and no driver mutations were detected.\nA diagnostic and therapeutic right parietal craniotomy was performed with excision of the lesion. Histopathology did not show any malignant cells but instead demonstrated an abscess with surrounding reactive gliosis. Gram-staining revealed gram-positive branching rods surrounded by many neutrophils (Fig. 3). Cultures resulted negative and did not identify any acid-fast bacilli. Given the gram stain results, MALDI-TOF mass spectrometry was done and revealed Nocardia species.\nConsidering these findings, a right upper lung nodule biopsy was performed to evaluate for pulmonary nocardiosis. The biopsy revealed normal lung parenchyma in a background of inflammatory cells and reactive pneumocytes but no evidence of malignancy. Gram stain and cultures for anaerobes, acid-fast bacilli including Nocardia, and mycobacteria were all negative; as a result, mass spectroscopy was not performed.\nThe patient was treated with imipenem, cilastatin, and minocycline and fully recovered from his nocardial abscess. He eventually started chemotherapy with carboplatin, pemetrexed, and pembrolizumab for his lung adenocarcinoma. He achieved a complete response and remains cancer-free 41 months after his initial diagnosis.",
"gender": "Male"
}
] |
PMC8463768
|
[
{
"age": 52,
"case_id": "PMC4166343_01",
"case_text": "This study was approved by the ethics committee of Kanazawa University Graduate School of Medical Science and followed the tenets of the Declaration of Helsinki. A 52-year-old man with endothelial dysfunction of unknown cause in the right eye was selected as the recipient. Slit-lamp examination revealed an opaque cornea due to advanced endothelial dysfunction (Figure 1A). The left eye was normal on slit-lamp examination without any guttata. There was no history of ophthalmic intervention in the past in either eye.\nThe donor cornea from a child 2 years of age after brain death was supplied from a domestic eye bank. The time from cardiac death to enucleation was 3 hours, and the time to processing was 1 hour. The donor was transplanted 2 days later. The endothelial cell density of the infant donor was as high as 4,291 cells/mm2. The central thickness of the donor measured by ultrasound pachymeter was 561 mum. Since the elasticity and tenderness of the infant donor tissue were extremely high, there were no striae on the surface of the endothelial cell layer after the donor sclerocorneal tissue was harvested (Figure 2).\nIntraoperative and postoperative complications, including iatrogenic primary graft failure, donor graft dislocation, and pupillary air block glaucoma were documented. Best corrected visual acuity and donor central endothelial cell density were recorded preoperatively and at 6 months and 1 year postoperatively. The decimal visual acuity were used as measures of visual acuity and converted to the logarithm of the minimum angle of resolution (logMAR). The central endothelial cell density was measured with noncontact specular microscopy (Noncon Robo; Konan Medical, Hyogo, Japan), using the center method as outlined by the manufacturer's software. The postoperative cell loss rate was calculated as a percentage of the preoperative donor endothelial cell density as provided in the information from the domestic eye bank.\nThe surgery was performed at the Department of Ophthalmology, Kanazawa University Graduate School of Medical Science, using a technique as reported previously. The patient read and signed an informed consent form prior to surgery.\nThe donor cornea was dissected with a microkeratome (ALTK Cbm; Moria, Antony, France) equipped with a 300 mum head. The donor tissue was extremely elastic and soft compared with the adult tissue. After microkeratome dissection, the donor tissue was transferred to a punching system and cut with an 8.0 mm diameter punch (Barron Donor Cornea Punch; Katena Products Inc., Denville, NJ, USA). The central corneal thickness of the infant donor cornea and the residual corneal stromal bed left after lamellar microkeratome cut was not measured.\nPhacoemulsification and a single-piece acrylic intraocular lens insertion procedure was performed via a 3 mm clear corneal temporal incision just before nDSAEK. Since the cornea was too opaque to obtain a clear surgical view during phacoemulsification, trypan blue staining of the anterior capsule, corneal epithelial debridement was performed for better visualization of the anterior chamber. Since the cornea was too opaque to remove the Descemet membrane, we decided not to remove the membrane in this case (nDSAEK). The surgical procedure of nDSAEK was described previously. In brief, three corneal fenestrations were performed to drain the interface fluid. A small inferior iridectomy at the 6 o'clock position was then routinely created with a 25-gauge vitreous cutter (Medical Instrument Development Laboratories, San Leandro, CA, USA). Continuous irrigation from a 25-gauge anterior chamber maintainer (25 gauge DSAEK Chamber Maintainer, Catalog number AE-7802; Asico, Westmont, IL, USA) was used. An ophthalmic viscosurgical device (Viscoat; Alcon Laboratories, Fort Worth, TX, USA) was applied to the endothelial surface of the graft, and the donor graft was inserted using a Busin glide and an intraocular lens sheet glide (double glide technique). After insertion of the donor graft, the wound was secured with three interrupted 10-0 nylon sutures. Air was injected into the anterior chamber to press the donor graft against the recipient cornea. Corneal massage was performed to adjust the centered position of the donor graft and to eliminate residual fluid at the donor graft-recipient interface. Residual interface fluid was also drained through corneal venting incisions. The anterior chamber was left full of air, and the patient was instructed to lie on his back for at least 1 hour.",
"gender": "Male"
}
] |
PMC4166343
|
[
{
"age": 52,
"case_id": "PMC7433960_01",
"case_text": "A 52-year-old female presented to the Department of Oral and Maxillofacial Surgery with a painless swelling in the floor of the mouth on the right side since 1-year, with no obvious increase in size. The swelling was not associated with any changes in salivation, but she had difficulty in articulation due to its size. Her medical history was insignificant. She had no history of tobacco use or any other adverse habits.\nOn retraction of the tongue, a solitary 5 cm x 4 cm swelling was noted in the floor of the mouth on the right side, crossing the midline till the lower left central incisor, completely obliterating the lingual vestibule and occupying the entire floor of the mouth on that side [Figure 1]. The mucosa overlying the swelling was adherent to the lingual gingiva in the region of the lower right premolars [Figure 2]. On palpation, the swelling was well defined, firm in consistency, regular surface, nontender, nonpulsatile, and not bimanually palpable. The mucosa overlying the swelling was freely movable except at the region of attachment to the gingiva. The submandibular ducts were patent and milking of the gland yielded normal saliva.\nThere was no evidence of salivary calculi or bony erosion in the mandibular occlusal radiograph. Contrast-enhanced computed tomography (CT) showed an enhancing mass lesion in the right sublingual region [Figures 3 and 4]. In view of the history, clinical features, and CT findings, we came to the diagnosis of a salivary gland tumor in the sublingual region. Fine-needle aspiration cytology was reported as sialadenitis of minor salivary gland. An incisional biopsy was thus carried out, which revealed the presence of mucous acini suggestive of minor salivary gland showing periductal inflammation and a very small portion of tumor cells arranged in cribriform pattern and cystic spaces filled with eosinophilic coagulum [Figure 5]. Hence, we came to a diagnosis of salivary gland tumor arising from the minor salivary gland with high suspicion of malignancy. Excisional biopsy of the lesion was hence planned under general anesthesia. Intraoperatively, the swelling was found to be submucosal and well-encapsulated [Figure 6]. Wide excision of the lesion, including the overlying mucosa and the distal portion of the submandibular duct was carried out. On gross examination of the excised specimen, there was no evidence of major salivary gland seen. Histopathological examination showed areas with features of PA with an overlying capsule containing ducts and acini. The ducts showed an inner epithelial cell layer and outer myoepithelial cell layer embedded in myxohyalinous background matrix, presence of transitional zones showing capsular invasion with cells arranged in cribriform and tubular pattern having cytomorphologic features of adenoid cystic carcinoma. Invasion into the surrounding capsule as well as adjoining minor salivary glands was evident, with no perineural invasion. Based on the histopathological findings, we arrived at a diagnosis of Carcinoma ex pleomorphic adenoma (CXPA) of the minor salivary gland with capsular infiltration. The patient was hence referred for postoperative radiotherapy. The patient is doing well and no evidence of recurrence has been noted after 1-year.",
"gender": "Female"
}
] |
PMC7433960
|
[
{
"age": 9,
"case_id": "PMC8046462_01",
"case_text": "This was a 9-year-old female patient referred from Kibuye Hospital in the Western province of Rwanda for further investigations and management of the left calcaneal mass suspected to be an osteosarcoma. The condition had persisted for 4 months before consulting our clinic at Kigali University Teaching Hospital CHUK for the left heel pain and swelling. The examination noted a history of fever, weight loss and swelling of the left foot extending to the whole lower limb without cough. Consulted, as structured health system, Birambo Health Centre, then Kirinda district hospital where she received different treatment (that we are unable to get their records for proper identification), without improvement. After 2 weeks, a pus discharging sinus appeared on the heel mass. Two months later, the patient noted right hip swelling with inability to stand and walk. She consulted Kibuye Referral Hospital, from where she was referred at CHUK on December 1, 2017, for further management of possible osteosarcoma of the left calcaneus. No history of trauma nor TB contact.\nOn physical examination: Temperature was 37.6 C, respiratory rate of 20 cycles/min, pulse of 97 beats/min; two ulcerated wounds on the lateral aspect of left ankle and heel, swollen and tender ankle joint, two mobile, non-tender, small inguinal lymph nodes on the left side, limited range of motion of right hip joint with tenderness and mild shortening of right lower limb.\nCOM of the left calcaneum with pus discharging sinuses\nLeft foot synovial sarcoma/Ewing sarcoma\nTB of the left calcaneum and right hip.\nAs management, she received analgesics, daily wounds care and different clinical pathology tests were requested (Table 1). Imaging studies including computed tomography (CT) scan of the left foot (Fig. 1a, b and d) and pelvic X-ray (Fig. 1c).\nCT scan results (December 8, 2017): Lytic and sclerotic calcaneal tumor consistent with osteogenic sarcoma, the differential diagnosis is COM.\nShe was admitted on December 14, 2017, on December 18, 2017, curettage and biopsy were performed under general anesthesia and pre-operative chest X-ray was normal. The patient was discharged home on December 20, 2017.\nOn January 10, 2018, microscopic examination of the calcaneal mass curettings (Fig. 2) revealed rare poorly formed granuloma, rare multinucleated giant cells, and mixed acute and chronic inflammatory cell infiltrates in favor of possible extrapulmonary TB. The special auramine-rhodamine stain was positive for acid-fast bacilli (Fig. 2).\nOn February 8, 2018, the patient was referred to pediatric outpatient department (OPD) seen in OPD for TB treatment, as follows: Rifampicin, isoniazid, pyrazinamid, and ethambutol (R75 mg H50 mg Z50 mg E100 mg) 8 tablets per dose for 12 days and then for 48 days. Rifampicin, isoniazid (R75H50) for the remaining period. Pyridoxine 25 mg/day was associated for the two 1st month.\nOn July 9, 2018, she was reviewed in OPD with persistent small sinus on the left heel. Walking with axillary crutches. The X-rays showed sequestrum and sclerosis of calcaneum, distal tibia, and fibula (Fig. 1d).\nWe did a sequestrectomy under general anesthesia at Kibuye Hospital in citizen outreach program. She was discharged and advised to continue anti-TB.\nOn November 29, 2018, she was reviewed and had significantly improved and gained weight; sinuses healed, mild limping with limb length discrepancy of around 1 cm (right being short) and she could stand and walk with the aid of one axillary crutch. Had a limb length discrepancy of around 1 cm (right being short). The liver function test, renal function test, and hemogram test were normal. Control X-rays and morphology picture of the limb were obtained at the same time (Fig. 3).",
"gender": "Female"
}
] |
PMC8046462
|
[
{
"age": 30,
"case_id": "PMC5390662_01",
"case_text": "We present the case of a 30-year-old woman who came to the hospital emergency department in September 2015, referring a week of progressive dyspnea, accompanied by sharp pain in left hemithorax and chest tightness. She didn't refer other symptoms.\nShe had multiple food allergies, controlled by the Allergology department, and allergic rhinitis and asthma that was treating with terbutaline and antihistamines on demand. She has never had toxic habits, and works as a graphic designer at a printing press.\nPhysical examination only highlighted an abolition of the vesicular murmur and vocal vibrations in the left lung base.\nThe blood test performed in the emergency room was strictly normal. In the chest X-ray, a large left paracardiac mass was observed, which in the lateral projection was located in the anterior mediastinum (Fig. 1). Thoracic echography revealed a paracardiac mass of about 10 cm in diameter.\nThe patient was admitted to the Pneumology Service with the suspicion of an anterior mediastinal tumor. During admission, a CT scan of chest, abdomen and pelvis was performed, confirming the presence in the left anterior mediastinum of a 10 x 11 cm of diameter tumor located to the left of the heart and in front of the left lung. The lesion had an intimate contact with the adjacent pericardium with effacement of the fat planes (Fig. 2). A CT-guided needle biopsy was performed. The biopsy was informed as compatible with a low grade myofibroblastic tumor. During admission, a PET-CT was performed, which showed that the mass had a heterogeneous metabolic behavior, with a SUV max. of 4.83 g/mL. The remaining structures showed no increase in glucose metabolism (Fig. 3). Thoracic MRI was also performed, which showed that the tumor had a broad contact with the pericardium, but without signs of infiltration.\nWith the diagnose of a low grade myofibroblastic tumor, the patient was referred to the Thoracic Surgery Service. A thoracoplasty was performed, dissecting the mass and part of the pericardium where it was not possible to dissect. The main complication was an intense bleeding which needed the transfusion of 2 units of red blood cells. The resected piece was submitted to the Pathological Anatomy Service and analyzed by the same team of the previous needle biopsy, which provided the definitive diagnosis of a dedifferentiated liposarcoma with bone metaplasia. The surgical margins were free of tumor and no lymphatic or vascular invasion was identified. The chest X-ray two months before surgery can be observed in Fig. 4.\nAfter surgery, the patient was referred to the Medical Oncology Service, who proposed her to start adjuvant chemotherapy treatment with four cycles of ifosfamide-adriamycin. The possibility of concomitant local radiotherapy was considered, but it was rejected because of the high risk of toxicity and sequelae.\nThe chemotherapeutic treatment was administrated between December 2015 and April 2016. One month later, a new PET-CT scan was performed, which showed no increase in glycolic metabolism at any level.\nThe patient currently follows periodic check-ups at the Medical Oncology Service, performing chest CT every 6 months. The last one was performed in February 2017, and was strictly normal. Until date, she has not developed a recurrence of the ML.",
"gender": "Female"
}
] |
PMC5390662
|
[
{
"age": 29,
"case_id": "PMC6304870_01",
"case_text": "A 29-year-old military male basic trainee (71 inches, 200 pounds, BMI 27.89) presented with a one-month history of atraumatic bilateral leg pain. He reported pain within the first week of initiating running at basic training. He was diagnosed with bilateral proximal tibia stress fractures at three weeks with instructions to stop impact activities. After failure of his symptoms to improve, he was referred to our facility. On presentation, he had tenderness about the medial aspect of each proximal tibia. Radiographs obtained at that time demonstrated bilateral proximal tibia stress fractures with varus alignment about each knee and articular collapse of the left tibial plateau. Metabolic labs were obtained and significant for a low vitamin D (15), but the remainders of labs including calcium, thyroid-stimulating hormone (TSH), and testosterone were unremarkable. MRI of the left knee demonstrated a medial tibial plateau fracture with two millimeters of articular depression and extension of the fracture to the tibial spine (Figure 1(a)). MRI of the right knee demonstrated a hypointense linear T2 signal surrounded by diffuse hyperintense signal suggesting a medial tibial plateau stress fracture with surrounding bone edema, without articular collapse or extension (Figure 1(b)). These fractures were at the level of the physis, and there was surrounding sclerosis on plain radiographs. Given the collapse of the articular surface in his left knee, the patient was indicated for open reduction internal fixation with allograft bone. The patient underwent the aforementioned procedure without complication, and the patient remained nonweight bearing to his bilateral lower extremities (Figure 2(a)). At the time of surgery, the bone at the fracture distal to the articular surface was softer and more friable in composition than expected for the stress fracture. It was easily debrided back to stable, healthy bone edges, and we were interested in analyzing its composition, so a biopsy was obtained and sent to the lab for analysis. Histology demonstrated nonossifying hyaline cartilage with admixed fibroconnective tissue consistent with a persistent physis (Figure 3(a)).\nAt the six-week follow-up visit after the procedure on his left knee, the patient was still having significant pain in his right lower extremity and, after extensive counseling, elected to undergo the same procedure on the contralateral limb in an effort to return to running and continue his military career (Figure 2(b)). We suspected that a similar pathology of a persistent physis was present in the right proximal tibia and that this was contributing to his slow healing progression. Similar intraoperative pathology specimens were again obtained at the fracture site distal to the articular surface (Figure 3(b)), and these demonstrated fragments of purple to purple-gray staining matrix with chondroid metaplasia. This presence of cartilage distal to the articular surface was consistent with a persistent physis.\nAt four-and-a-half months from the index procedure (three months from the staged procedure), the patient was ambulating without assisted devices and had painless range of motion from 0 to 120 in each knee with well-healed incisions, maintained hardware and alignment, but had not returned to impact activities. Due to his status as a basic trainee, he was released from active duty at six months' time postoperatively and was lost to follow-up.",
"gender": "Male"
}
] |
PMC6304870
|
[
{
"age": 26,
"case_id": "PMC5219585_01",
"case_text": "A 26-year-old man with end-stage renal disease was scheduled for renal transplantation. During his preanesthetic checkup it was noted that he had DRESS syndrome in response to antibiotics that had been prescribed for a catheter-related infection. He had high grade fever and erythematous maculopapular rash all over the body with intense scaling and edema over the face (Fig 1). All the investigations were normal except for leukocytosis (WBC 23,000/mm3) with 10% eosinophils and an abdominal CT showing reactive retroperitoneal lymphadenopathy and hepatomegaly. Dermatological opinion confirmed the diagnosis of DRESS after noting elevated serum LDH and IgE levels. All the antibiotics were discontinued. He became afebrile with resolution of skin rashes. He was scheduled for renal transplantation under regional anesthesia. Prior to the surgery, skin prick and intradermal tests were done with antibiotics, lignocaine, bupivacaine, ropivacaine, fentanyl, and tramadol:the drugs most likely to be used during regional anesthesia according to standard protocols. After confirming negative results, the drugs were used. He was dialyzed before his surgery. All his preoperative investigations were normal. In the operation theatre, the right internal jugular vein was cannulated for central venous pressure measurement. Epidural catheter was placed in the L3-4 interspace and kept 6 cm inside the epidural space. A test dose of lignocaine+adrenaline was given epidurally. Spinal anesthesia was given in L4-5 interspace with Quincke's needle; 17.5 mg bupivacaine heavy was given after free flow of CSF to achieve a T6 sensory level. Intra-operative monitoring included temperature, pulse, NIBP, ECG, CVP, and urine output. We also remained alert for signs and symptoms of anaphylaxis including skin rash, tachycardia, hypotension, bronchospasm, and edema of lips or tongue. Epidural mixture of 7 mL of bupivacaine 0.5% and 7 mL of lignocaine 2% was given epidurally after 90 min of spinal anesthesia. Supplemental doses of local anesthetics were given epidurally hourly until the end of the surgery.\nThree liters of normal saline was given and CVP was kept between 12 and 15 mm Hg. Intra-operatively, 500 mg methylprednisolone and 100 mL mannitol 20% were given just before release of the vascular clamps. Anastomosis time was 20 min and urine output was established immediately on release of the vascular clamps. The patient remained stable throughout the surgery. Post-operatively, the patient was transferred to ICU for further observation. Tramadol plus 0.125% bupivacaine were given epidurally for post-operative pain relief.",
"gender": "Male"
}
] |
PMC5219585
|
[
{
"age": 74,
"case_id": "PMC8639279_01",
"case_text": "A 74-year-old male patient with a known case of benign prostatic hyperplasia (BPH) presented on 17 October 2020 to the emergency department (ED) with fever and progressive generalized fatigability for 10 days. He had a history of dysuria for two weeks, in addition to polyuria, mild night sweating, and weight loss of 10 kg in one month. There was no history of upper respiratory tract infections, nausea, vomiting, diarrhea, or abdominal pain. He reported a history of drinking unpasteurized milk and contact with farm animals but denied any history of contact with tuberculosis (TB) patients. There was no history of diabetes mellitus (DM). There was no family history of malignancy or rheumatologic disease. Prior to this presentation, he had frequent visits to the ED due to increased fatigability and joint pain. However, no diagnosis was established, and the treatment was often conservative. On this admission, he was managed empirically with intravenous (IV) tazocin and IV paracetamol, given his history. A septic workup was also performed. Laboratory investigations revealed positive serology for Brucella abortus and Brucella melitensis, elevated erythrocyte sedimentation rate (ESR) (58 mm/hr), C-reactive protein (CRP) (165.08 mg/dl), and leukocytosis (23.32x103/muL). Chest X-ray (CXR) was unremarkable. The patient was diagnosed with brucellosis and, eventually, discharged on doxycycline and rifampin. In addition, he was scheduled for a neurological follow-up to assess his progressive fatigability.\nAfter one month, on 17 November 2020, he was seen in the neurology clinic. The diagnosis of Guillain-Barre syndrome (GBS) was suggested as radiculoneuropathy, and axonal sensorimotor polyneuropathy was proven by electromyography (EMG) and nerve conduction study (NCS). Accordingly, the patient was admitted and received immunoglobulin (IVIG) as recommended by the neurologist. After one week of receiving IVIG, his condition was still not improving and he was referred to the outpatient rheumatology clinic to exclude possible vasculitic processes. Later on, the patient was seen in the rheumatology clinic complaining of multiple joint pain and swelling of wrists, fingers, elbows, knees, ankle, and foot, which started four weeks earlier to his visit.\nThe pain and swelling in the knees and elbows almost completely improved after brucellosis therapy. However, he was still complaining of pain and swelling in the other joints, which usually worsened at night and improved with movement. Perinuclear anti-neutrophil cytoplasmic antibodies (p-ANCA) was strongly positive (131), ESR was 53 mm/1 hr, and CRP was 132.83 mg/dL. Rheumatoid factor (RF), anti-citrullinated protein antibodies (ACPA), antinuclear antibodies (ANA), cytoplasmic anti-neutrophil cytoplasmic antibody (C-ANCA), and ferritin were all normal. Despite being on appropriate antibiotics treatment for brucellosis, his fever did not subside. It was recurring in episodes, with each episode lasting 20 minutes per day. The fever was not associated with sweating, shivering, or other constitutional symptoms. Furthermore, based on the constellation of several findings, which include the persisting fever despite appropriate antibiotic therapy, the EMG/NCS finding of axonal sensorimotor polyneuropathy, the persistence of elevated inflammatory markers, the positive P-ANCA, and imaging that did not show any masses or fluid collection, the likelihood of underlying systemic vasculitis was high according to the rheumatology team. Therefore, prednisolone 50 mg PO OD was started. In addition, he was continued on doxycycline and rifampin for another set of 11 days to complete six weeks of the brucellosis treatment course.\nAfter one week of being on steroids, his fever totally subsided and other symptoms had significantly improved. Also, his CRP started to decrease, reaching 79.59 mg/dl. However, P-ANCA was still high (119.4). Therefore, the decision was made to continue on prednisolone 50 mg for another week, followed by 40 mg for two weeks and then 30 mg for two weeks. On the next visit after four weeks on 27 December 2020, he reported significant improvement in his symptoms with no more joint pain and resumed his normal activities independently. Also, lab results showed decreased P-ANCA to 57.8 and CRP to 19.36 mg/dL. Azathioprine 50 mg PO twice a day was added while he continued taking steroids with a tapering dose. After four weeks, on 26 January 2021, he reported that he was no longer experiencing fever, fatigue, joint swelling, or pain. However, he could not actively flex or extend his left index finger or right thumb, which was attributed to his peripheral neuropathy. Therefore, azathioprine dose was optimized to 50 mg three times a day. The patient was reevaluated on 7 March 2021. He was found to be asymptomatic, with no active complaints. Subsequently, azathioprine dosage was reduced to 50 mg PO BID.",
"gender": "Male"
}
] |
PMC8639279
|
[
{
"age": 58,
"case_id": "PMC8247706_01",
"case_text": "A 58-year-old female with a history of metastatic small cell lung cancer (SCLC) with known recurrent brain metastases and bone metastases status post multiple rounds of radiation and chemotherapy treatments presented with weakness in her right arm and leg, lethargy, and confusion over 1 week. Magnetic resonance imaging (MRI) revealed a growing peripherally enhancing 1.2 cm mass (0.8 cm 2 months prior) in the left precentral gyrus that had previously received linear-accelerator-based stereotactic radiosurgery (SRS) to 20 Gy 9 months prior (with 99% coverage of the target volume), a new left cerebellar 0.4 cm lesion, and a growing left posterior temporal/medial occipital 0.6 cm lesion (0.4 cm 2 months prior) [Figure 1]. The patient was awake and alert with cranial nerves grossly intact. She had an Eastern Cooperative Oncology Group (ECOG) performance status of 1.\nThe patient had a complicated oncological treatment history, including a previous diagnosis of right breast adenocarcinoma status post breast-conserving surgery and adjuvant chemoradiation, concurrent definitive chemoradiation for her originally diagnosed limited-stage SCLC, prophylactic cranial irradiation (PCI), and SRS to multiple brain metastases. [Figure 2] provides a timeline summarizing her major treatments.\nFollowing discussion at a multidisciplinary tumor board, the patient underwent craniotomy and resection of her left precentral gyrus lesion, with pathology demonstrating metastatic SCLC. Given that the target area had previously received radiation therapy with PCI and SRS, the patient was given 35 Gy in 100 fractions over the course of 3 weeks, using PRDR for re-irradiation treatment at an apparent dose rate of 0.178 Gy/min for a cumulative dose of 80 Gy. TomoHDA Planning Station Version 5.1.1.6 (Accuray Inc., Sunnyvale, CA, USA) was used [Figure 3]. [Figure 4] provides a cumulative dose-volume histogram on the organs at risk along with the PRDR targets based on the treatments to the brain using MIM software (MIM Software Inc., Cleveland, OH, USA).\nAt follow-up in 3 months after PRDR treatment, the patient noted improved motor function of her right hand and foot. MRI brain showed improvement with marked reduction in enhancement in the lesions in the left precentral gyrus, left occipital, and left cerebellar lesions. The patient was started on palliative carboplatin and etoposide. In 5 months following the PRDR treatment, the patient maintained good motor function of her right hand but developed progression of disease with two new 3 mm brain metastases in the right temporal and left parietal regions that were outside the previously treated PRDR field. She received 24 Gy SRS to those lesions. She then developed progression in the mediastinum and retroperitoneum, although there was no evidence of recurrence within the PRDR-treated radiation field. The patient was started on palliative pembrolizumab but in the coming months had a gradual decrease in her overall performance status with increased altered mental status and hospitalizations. After discussion with neurosurgery and palliative care, the patient switched her care to home hospice, which she continues with 14 years elapsing since her initial diagnosis.",
"gender": "Female"
},
{
"age": 41,
"case_id": "PMC8247706_02",
"case_text": "[Figure 5] provides a flowchart summary of this case. A 41-year-old male was referred to our outpatient radiation oncology clinic with recurrent glioblastoma of the thoracic spinal cord. He had originally been diagnosed 3 years prior after presenting with progressive back pain and left leg weakness. At that time, imaging revealed a T11-12 intramedullary tumor measuring 5 x 1.3 x 1.2 cm in dimension. There were multiloculated cystic components which had peripheral enhancement. He underwent a thoracolumbar laminectomy and microsurgical resection of the spinal cord tumor 3 weeks later. Final pathology was consistent with a WHO grade 4 glioblastoma, KI-67-10%, IDH-1 negative, and ATRX expression retained, to which concurrent chemotherapy and radiation were recommended. He underwent adjuvant 50.4 Gy in 28 fractions of radiation to the thoracic resection cavity with 12 cycles of temozolomide.\nTwo and a half years after the original resection, his left leg weakness progressed, and an MRI of the thoracic spine showed definite tumor progression. Additional chemotherapy with temozolomide, Avastin, isotretinoin, and lomustine did not slow the progression of the tumor. At the time of evaluation, the patient reported a 6-month history of a 20-pound weight loss, worsening bilateral leg weakness, numbness and tingling in both legs, erectile dysfunction, inability to ambulate with both legs causing wheelchair use, increased urinary frequency, and occasional difficulty holding bowel movements. He denied any pain. His ECOG performance status was 3.\nMRI thoracic spine revealed a recurrent thoracic lesion 2.2 x 1 x 0.8 cm [Figure 6]. His bevacizumab and lomustine were placed on hold due to myelosuppression, with the bevacizumab restarted after a break. The patient was retreated with palliative radiation in the same area at 50 Gy in 250 fractions over the course of 6 weeks, using PRDR technique at an apparent dose rate of 0.0562 Gy/min for a cumulative dose of 100.4 Gy. TomoHDA Planning Station Version 5.1.1.6 (Accuray Inc., Sunnyvale, CA, USA) was used [Figure 7]. Bevacizumab 10 mg/kg every 2 weeks was given concurrently with radiation with the goal of decreasing the risk of radiation-induced injury, including edema and radiation necrosis, in the context of re-irradiation with PRDR.\n[Figure 8] provides a cumulative dose-volume histogram on the organs at risk along with the PRDR targets based on the treatments to the brain using MIM software (MIM Software Inc., Cleveland, OH, USA).\nImaging showed the lesion as stable at the 1-month follow-up appointment. He was able to walk with the assistance of a walker, which was an improvement from previously being bound by a wheelchair. Overall, the patient did not develop significant acute radiation side effects and reported to be very satisfied with his response to treatment.\nEight months after completion of radiation treatment, the patient remained on bevacizumab under the care of his oncologist. The patient reported progressive weakness in his lower extremities and ongoing fatigue. MRI of the spine revealed worsening leptomeningeal carcinomatosis, and the patient was discharged with home hospice. He died 2 months later, about 42 months after his initial diagnosis.",
"gender": "Male"
}
] |
PMC8247706
|
[
{
"age": 77,
"case_id": "PMC6240727_01",
"case_text": "A 77-year-old man was admitted to a local hospital because of melena and exertional chest compression. He had two hospitalization records in the past 1.5 years due to GI bleeding of unknown origin. Upon admission, the patient's blood pressure was 105/56 mmHg, and his heart rate was 115 beats/min. Physical examination revealed palpebral conjunctival pallor and a Levine 4/6 systolic murmur at the second right intercostal space. Blood test results (hemoglobin, 5.5 g/dL; hematocrit, 16.2%) indicated advanced anemia, and fecal occult blood reaction was positive. GI endoscopy could not reveal the origin of GI bleeding. Conservative therapy including fasting and transfusion improved the anemia, and fecal occult blood reaction also became negative. Echocardiography showed severe AS, with a peak aortic pressure gradient of 88.0 mmHg and effective orifice area of 0.52 cm2 (Fig. 1). The left ventricular ejection fraction was 0.61. Although the serum level of von Willebrand factor (vWF) activity was in the normal lower limit of 51% (normal range 50-150%), further hematologic examination by gel electrophoresis showed deficiency of high-molecular-weight multimers of vWF (Fig. 2). Although the origin of GI bleeding was unknown, the patient was diagnosed with Heyde syndrome because of the presence of AS and deficiency of high-molecular-weight multimers of vWF. He was transferred to our institution for further treatment. Considering a low risk of intraoperative death (logistic EuroSCORE of 2.56% and risk of mortality from the Society of Thoracic Surgeons adult cardiac surgery risk score of 0.788%), the patient was considered a suitable candidate for surgical aortic valve replacement (SAVR).\nThe patient underwent elective surgery. SAVR using a 21-mm bioprosthesis was performed with standard cardiopulmonary bypass (CPB), for which we selected unfractionated heparin anticoagulation. Aortic cross-clamp time was 71 min, and CPB time was 116 min. During the operation using heparin, there was no unexpected volume loss in which GI bleeding was considered. The postoperative course was uneventful. Under anticoagulant control of prothrombin time-international normalized ratio at 2.0-2.5, the patient did not develop recurrent anemia in the perioperative period (Fig. 3). The patient was discharged without subjective symptoms on postoperative day 18. The 20-month follow-up was unremarkable, with no episode of recurrent GI bleeding.",
"gender": "Male"
}
] |
PMC6240727
|
[
{
"age": 1,
"case_id": "PMC8128129_01",
"case_text": "A thirty-one-year old with her second pregnancy was admitted to labor ward at 38 weeks of gestation because of premature rupture of the membranes, she had a history of normal first delivery, PARA 1011, no known chronic disease or previous surgery. In the delivery room, when the cervix had dilated 3 centimeters, epidural anesthesia for pain relief was administered. The patient was placed in the sitting C-shaped position and the skin was prepared with betadine solution. After local anesthesia, a needle, 18G Tuohy, was introduced into the palpation-identified L3-4 interspace, with confirmation by loss of resistance (LOR) technique. The epidural catheter was inserted to a depth of 5 cm cephalad without difficulty. A bacterial filter was attached. After a test with 60 mg of Lidocaine was negative, 0.1% bupivacaine and 2 mcg/mL fentanyl were infused with 8 mL/h. The other elements of the procedure were sterile, the anesthetist used a face mask and sterile gloves. However, a sterile gown was not worn during the whole procedure. Three hours later, cesarean section was indicated for the patient due to signs of fetal failure. The anesthetist administered a bolus of 400 mg lidocaine and 100 mcg fentanyl via the bacterial filter for the cesarean section. During surgery, the patient was completely stable and a 3300 g baby girl was delivered with the first- and fifth-minute APGAR score of 8 and 10 respectively. No surgical or anesthetic complications had been detected at this time. The epidural catheter remained in for the first 48 hours after surgery for infusion of 0.1% bupivacaine and 2 mcg/mL fentanyl at 6 mL/h through the filter, and was then removed. In the following days, the patient complained of backache that got worse gradually, but no fever was noted. However, on the fifth postoperative day, she had continuous high fever ranging from 39 to 40 degrees Celsius, fatigue, irritation, dyspnea, abdominal distention, backache radiating to the left thigh. General examination showed that she was conscious with a temperature of 39 degrees C and other vital signs within normal ranges. Neurological examination revealed no motor deficit of the lower extremities, normal tendon reflexes, normal bilateral muscle strength, and negative meningeal syndrome.\nGynecological examination showed a good systaltic uterus and dry incision. The lumbar area at the epidural puncture site was swollen, painful, hot, and red. As shown by serum biochemistry there was prominent infection status with white blood cell count of 16.6G/l, CRP 112.7mg/L, procalcitonin 0.42 ng/mL. After 7 days, there were signs of increased infection including high fever, fatigue, irritability, regular dyspnea, shortness of breath (30 times/minute), drainage of pus from the puncture site of epidural anesthesia, tense abdomen; weakness, numbness and sensory disturbances in lower limbs. Results of blood culture showed that the pathogenic bacteria was Staphylococcus aureus. Antibiogram revealed appropriate antibiotics including vancomycin, carbapenem, cephalosporin and quinolone groups.\nWe then transferred the patient to a hospital capable of spinal surgery where the lumbar spine MRI scan was obtained and showed an abscess at lumbar L3-4 and subarachnoid inflammation (Figures 1 and 2).\nSince there were no changes in symptoms in the patient after using antibiotics, after two days, surgery was indicated to remove the absces and, clean the epidural area (Figure 3). Right before surgery, the patient developed numbness and sensory disturbances in lower limbs. Regarding motor deficit, the patient had weakness of muscle strength in lower limbs, ie, 2/5 on the left and 3/5 on the right, as well as reduced tendon reflex of bilateral legs, and negative meningeal syndrome. She was treated with antibiotics according to antibiogram after surgery.\nFive days after neurosurgery, she had completely recovered. She had no fever, fully recovered movement, and had no sensory disturbances.",
"gender": "Female"
}
] |
PMC8128129
|
[
{
"age": 38,
"case_id": "PMC5046003_01",
"case_text": "A 38-year-old Caucasian male with Goltz syndrome presented for elective surgery for removal of a left thigh papillomatous mass. He was born with webbed fingers and toes, as well as \"splotchy skin.\" He was diagnosed with Goltz syndrome with skin manifestations as an infant. In his late 20s, he started developing warts and skin tags over his body, and, later in his 30s, he started developing a papillomatous mass on his left inner thigh. His wife reported that the patient has been snoring for about 4 years; however, his snoring had significantly improved in the last 6 months. Other past medical history included obesity with a BMI of 43 and uncontrolled hypertension. Surgical history included a tonsillectomy as a teenager with no mention of anesthetic problems. He denied dysphagia and shortness of breath. Upon airway examination, he had a Mallampati score of 1 and full range of motion of his neck and mandible. The patient's physical examination was significant for a scattered, reticular rash across his chest, as well as a large papillomatous skin mass on his left inner thigh. Induction of anesthesia was accomplished with fentanyl, lidocaine, propofol, and rocuronium. A two-handed mask ventilation technique was required due to his body habitus, though no signs of airway obstruction were noted. Oxygen saturation during mask ventilation was maintained at 100%. Direct laryngoscopy was attempted with Macintosh 4 blade, a grade 2 laryngeal view was obtained, and a mass at the base of the tongue was visualized pulling the vocal cords to the right and obstructing the view of the vocal cords. A glidescope was then used in order to better visualize the mass. With optimal visualization, a friable, large, papillomatous mass was noted at the right base of the tongue (Figures 1(a) and 1(b)). The trachea was intubated with an 8 mm endotracheal tube. General anesthesia was maintained with sevoflurane, and the otolaryngology service was consulted intraoperatively for evaluation of the tongue mass. A small biopsy was taken, and then the surgical removal of the soft tissue mass on his thigh was performed. Upon completion of the thigh mass removal, the otolaryngology serviced returned for debridement of the tongue lesion to obtain a more clear view of the larynx and vocal cords. Upon completion of the debridement, the epiglottis and surrounding soft tissues were noted to be edematous. It was therefore decided to admit patient to the surgical intensive care unit and leave the trachea intubated overnight to safely allow the swelling to subside. After completion of three doses of dexamethasone 8 mg in the surgical intensive care unit, the trachea was uneventfully extubated and the patient was discharged home on postoperative day 2.\nThe pathological report for the debrided mass was interpreted as papillary lymphoid hyperplasia. The patient presented back to the operating room three weeks later for an elective removal of the remaining obstructing lesions. He was electively extubated the next day in the surgical ICU, just as the previous procedure, to allow for airway edema recovery. At a follow-up clinic visit with otolaryngologist one week later, the patient was breathing well, with no areas of concern for residual or recurrent pharyngeal disease.",
"gender": "Male"
}
] |
PMC5046003
|
[
{
"age": 40,
"case_id": "PMC5131811_01",
"case_text": "A 40-year-old woman with past medical history of type 2 diabetes mellitus and gastroesophageal reflux disease (GERD) presented to the emergency department because of increasing erythema, swelling, and pain in her right groin. She denied any fevers, chills, sexually transmitted disease history, or inguinal lymphadenopathy. On examination, there was redness with swelling on the right side of her mons pubis radiating down into the right labia majora with no associated lymphadenopathy. A diagnosis of cellulitis was made for which incision and drainage was performed and patient was started on IV antibiotics. Drainage culture showed methicillin-resistant Staphylococcus aureus (MRSA) and antibiotics were tailored accordingly. Her baseline investigations at the time of admission were unremarkable except for elevated white cell count of 19,000 cells/microL/cu mm. She was responding well to treatment; however, on the second day of hospitalization, her bicarbonate level dropped to 7 Meq/L. Arterial blood gas was ordered which revealed pH of 7.2, PCO2 of 21 mm Hg, and HCO3 of 8 mmol/L. Anion gap was calculated to be 18 mmol/L, but lactic acid, urine electrolytes, and kidney and liver functions were within normal limits. She was given IV fluid with bicarbonate without any improvement in her bicarbonate level. In the mean time, she started having labored breathing for which she was admitted in the intensive care unit (ICU). Beta hydroxybutyrate was ordered which was remarkably high (8.86 mmol/L). Surprisingly, her blood glucose levels were consistently below 250 mg/dL throughout the hospital stay. Her home medications included pantoprazole and canagliflozin, which were continued during the hospital stay. She had been on the same medications for years except canagliflozin that was started 1 year ago. Canagliflozin was immediately stopped and she was given supportive treatment. He bicarbonate level improved to normal within 2 days.",
"gender": "Female"
}
] |
PMC5131811
|
[
{
"age": 81,
"case_id": "PMC5457933_01",
"case_text": "An 81-year-old man was admitted to our hospital with abdominal distension, lightheadedness, and bilateral leg edema. He had previously been independent, but lightheadedness had occurred two months previously, after which he required a crutch to walk. Bilateral leg edema had developed three weeks prior to his admission, but there was no dyspnea. Although his appetite was good, he had noticed abdominal distension on the day before his hospitalization. The patient had a history of hypertension and had been diagnosed with type II diabetes mellitus 20 years previously. Furthermore, he had been admitted to hospital seven years previously for sudden deafness of the right ear. He had no occupational history of asbestos exposure, and he had worked as a bank employee between the 20 and 57 years of age. At presentation, his vital signs were as follows: blood pressure, 118/67 mmHg; pulse rate, 95 beats/minute; body temperature, 36.9C, and oxygen saturation (measured by pulse oximetry) while breathing room air, 100%. On examination, he had pallor of the palpebral conjunctiva. While there were no abnormalities of the thorax, the patient's abdomen was distended and there was bilateral flank dullness without tenderness or abnormal bowel sounds. He also had bilateral leg edema. Laboratory tests showed that his renal and liver functions were normal, but he had microcytic anemia (hemoglobin, 8.6 g/dL; mean corpuscular volume, 78.9 fL), hypoalbuminemia (albumin, 1.9 g/dL), and his C-reactive protein level was elevated to 15.8 mg/dL.\nA chest radiograph showed cardiomegaly (cardiothoracic ratio: 50%) without pleural effusion or pulmonary congestion, while an abdominal radiograph showed air limited to the epigastrium. He was admitted because of anemia, inflammation, and abdominal distension. His serum iron level was low (13 mug/dL) and his ferritin level was high (1,050 ng/mL), indicating disordered iron utilization and suggesting that his microcytic anemia had occurred secondarily to systemic inflammation. His urine was negative for protein, while his serum protein fractions showed a chronic inflammatory pattern that was characterized by a decrease in albumin and an increase in alpha1-globulin, alpha2-globulin, and gamma-globulin (polyclonal gammopathy). We performed enhanced abdominal computed tomography (CT) to investigate the cause of abdominal distension, which revealed massive ascites, thickening of the anterior peritoneum, and shortening of the mesentery (Fig. 1). Neither abdominal lymphadenopathy nor abnormalities of the solid viscera were observed. Paracentesis revealed cloudy yellow ascites with a high total protein concentration of 3.0 g/dL, indicating that it was an exudate. The serum-to-ascites albumin gradient was 0.6 g/dL, demonstrating the absence of portal hypertension. The glucose concentration was 98 mg/dL and the cell count was 150/muL (mainly lymphocytes and histiocytes without neutrophils). A bacterial culture of the ascites was negative, which made bacterial peritonitis unlikely. Tuberculous peritonitis was excluded by the normal adenosine deaminase level (16.7 IU/L). Because his cytology was class III, malignant ascites was suspected. His serum tumor marker levels, including carcinoembryonic antigen and carbohydrate antigen 19-9, were normal. A gastrointestinal tract work-up revealed reflux esophagitis and chronic gastritis on endoscopy, but no malignant lesions were found. The patient vomited after endoscopy and developed chemical pneumonia due to the aspiration of gastric acid. The patient's respiratory insufficiency required ventilation, but he was subsequently weaned from the ventilator. However, he had recurrent vomiting and aspiration due to paralytic ileus. Cytological examinations of the ascitic fluid were repeated three times, but remained class II after the initial finding of class III. Because the patient's abdominal distension persisted, we performed the drainage of approximately 3 L of fluid; however, the re-accumulation was rapid and weekly drainage was required. The patient's hemoglobin level decreased to 6.9 g/dL and a transfusion of packed red cells was planned. A direct Coombs test was positive and warm antibody was detected in the blood examination before transfusion, despite the patient having no history of transfusion. We did not perform transfusion because agglutination occurred with all of the red cell products that were stored at our hospital. The patient died of aspiration pneumonia secondary to paralytic ileus on the 52nd day of hospitalization and an autopsy was performed with the consent of his family. The abdominal cavity contained 3,200 mL of clear yellowish ascites and the entire peritoneum was thickened with scattered small granules and nodules. Severe adhesion of the digestive tract was observed, which formed a cluster with the abdominal organs (Fig. 2). The entire peritoneum, gastrointestinal tract, and gallbladder showed prominent thickening, and there was also partial involvement of the liver and pancreas. A histological examination of the Hematoxylin and Eosin (H&E) staining sections revealed neoplastic cells with a tubulopapillary appearance (Fig. 3A), as well as tightly packed spindle cells (Fig. 3B), which represented epithelioid and sarcomatous tumor components, respectively. The tumor cells were negative for carcinoembryonic antigen (a marker of adenocarcinoma), but were positive for HBME-1 (Fig. 4A), calretinin (Fig. 4B), cytokeratin, CAM 5.2, and cytokeratin 5/6 (markers of mesothelioma) on immunohistochemical staining. Biphasic MPM was diagnosed based on these findings.",
"gender": "Male"
}
] |
PMC5457933
|
[
{
"age": 59,
"case_id": "PMC7090256_01",
"case_text": "A 59-year-old male presented with a right symptomatic reducible inguinal hernia. The patient had no abdominal or urinary symptoms. His previous medical history was uneventful. On clinical examination, a reducible small-sized right inguinal hernia with normal testes was found. The patient had a colonoscopy as a screening test 4 months prior to the surgery, and the result of the procedure was unremarkable. The patient underwent open right indirect inguinal repair (Lichtenstein procedure) under general anesthesia. During dissection of the indirect inguinal hernia sac, two tubular structures were identified as the vas deferens (Figure 1). Examination of the scrotum showed a single testes and epididymis; both vas deferens communicated with the epididymis. We followed the two vas deferens from the deep inguinal ring until they fused in the epididymis of the testis. We performed the Lichtenstein procedure, and the patient tolerated the procedure without post-operative complications. He was discharged the next day and followed up 2 weeks post-operation as a surgical outpatient. The patient reported no complaints during his outpatient visit, and no complications related to the procedure were noted. Due to the financial status of the patient, we were unable to perform a CT scan or MRI of the pelvis to assess whether the duplication was bilateral or unilateral.",
"gender": "Male"
}
] |
PMC7090256
|
[
{
"age": 2,
"case_id": "PMC6299974_01",
"case_text": "The index patient (IV.1) was referred to our dedicated immunology clinic (McGill University Health Centre-MUHC) at 18 months of age for evaluation of dermatitis and recurrent infections. He was treated with oral antibiotics at 5, 8, and 13 months of age for balanitis. He also suffered from chest X-ray-documented pneumonia and an acute otitis media, which occurred at 6 and 12 months of age, respectively. At 14 months, he was admitted to the hospital for febrile neutropenia with pneumonia and treated with intravenous antibiotics. The neutropenia resolved, but marked persistent lymphocytosis persisted. Small reactive lymphocytes were present on the peripheral blood smear. The physical examination revealed dry lichenified erythematous skin lesions with no palpable lymphadenopathy and no appreciable splenomegaly. Dermatology confirmed a diagnosis of pustular psoriasis, which was complicated by a superimposed recurrent molluscum contagiosum affecting his abdomen, back, perianal and leg areas as well as streptococcal perianal dermatitis.\nInitial blood analyses performed at MUHC in 2012 showed a lymphocyte count of 20.4 x 109/L and composed predominantly of CD19+ B-cells (12.4 x 109/L, 61.0%), with a decreased proportion of CD3+ T-cells (6.7 x 109/L, 33.0%) and normal CD16+CD56+ NK-cells (0.6 x 109/L, 3.0%). An extended flow cytometry panel performed in 2015 (MUHC) revealed increased proportions of naive CD19+sIgM+ B-cells (24.9 x 108/L, 72.0%) and CD19+CD5+ B-cells (20.0 x 108/L, 58.0%). The proportion of class-switched CD19+CD27+IgD-memory B-cells (0.2 x 108/L, 0.6%) was decreased. IgH gene rearrangement analysis demonstrated a polyclonal B-cell lymphocytosis pattern (Supplementary Figure 1). The patient had mild hypogammaglobulinemia (IgG 3.1 g/L) associated with slightly decreased serum IgA levels (0.19 g/L), absent serum IgM (< 0.25 g/L) and normal IgE levels (63 mug/L). IgE levels increased to 444 mug/L (normal 0-240 mug/L) later when the patient reached 4 years of age. Although, the patient received all recommended vaccines for age (including live attenuated vaccines against measles, mumps, rubella and varicella), he had no specific antibody responses against Haemophilus influenzae type B (IgG < 0.1 mug/mL) and Streptococcus pneumoniae (0/14 IgG serotypes were above 1.3 mug/mL). The specific antibody responses were normal for tetanus (IgG above 4.0 IU/mL) and diphtheria toxoids (IgG above 3.0 IU/mL). Lymphocyte proliferation responses to phytohemagglutinin, concanavalin A, and anti-CD3 were also normal. Pokeweed mitogen proliferative response was decreased (stimulation index of 23.2 compared to 85.6 in healthy control). Mild splenomegaly (8.5 cm) was confirmed on abdominal ultrasound. The CT scan showed small bilateral cervical lymph nodes. Blood serology and PCR for EBV and cytomegalovirus (CMV) were negative. The patient was treated with weekly subcutaneous immunoglobulin (scIg) injection therapy (equivalent to 0.65 g/kg/month). At 5 years of age, he suffered from two consecutive pneumonias with the second episode associated with rhinovirus infection, which required hospitalization and oxygen supplementation. Among other relevant medical problems, he is known for mild bilateral conductive hearing loss and atopy IgE-mediated milk allergy (milk specific IgE: 9.95 IU/L and positive skin prick test to cow's milk extract at 2 years old) and allergic rhinitis to birch and cat.\nThe family reported that parents were not related and were of Caucasian origin (Figure 1A). The father (Patient III.1, 29 years old) was investigated as a child for splenomegaly, atopic dermatitis, mild intermittent asthma, molluscum contagiosum (on buttocks, legs, and arms from age 1-5 years old) and \"high total B-cell number.\" No diagnosis was established at the time. Over the years, he developed recurrent warts and persistent finger onychomycosis (since age 4-5). He had chickenpox at 11 years old followed by shingles as a young adult. More recently, he was treated with intravenous antibiotic for recurrent knee effusions and recurrent folliculitis of the forearms and thighs. Staphylococcus aureus was isolated on the initial bacterial culture. Further immunological investigations revealed a polyclonal B-cell lymphocytosis (absolute lymphocyte count of 3.4 x 109/L with 33.0% of circulating CD19+ B-cells). B-cell subpopulation analysis also demonstrated an increased proportion of naive CD19+sIgM+ B-cells (7.9 x 108/L, 74.0%) and CD19+CD5+ B-cells (5.3 x 108/L, 50.0%), while the proportion of class-switched CD19+CD27+IgD-memory B-cells (0.1 x 108/L, 1.0%) was severely decreased. The father had a mild decrease in serum IgM level (0.48 g/L), but otherwise normal serum immunoglobulins (IgG 12.7 g/L, IgA 1.8 g/L, IgE 37-107 mug/L) and specific antibody responses against tetanus (0.9 IU/mL), diphtheria (0.6 IU/mL), and Haemophilus influenzae type B (HIB, 1.9 mug/mL) post vaccination. The specific humoral response against polysaccharide antigens was suboptimal with < 50% of pneumococcal serotypes above 1.3 mug/mL despite Pneumovax booster. Numbers and proportions of peripheral blood T and NK cells populations were within normal range for age. Lymphocyte mitogen proliferation assays were also normal. The father was closely monitored for the occurrence of possible lymphoproliferative disorder; he had persistently positive EBV PCR (46 774 copies/mL, EBV VCA positive >=1/4000, EBV EBNA < 1/10) with enlarged axillary lymph nodes (up to 1.7 x 1.2 cm on the left size) and prominent fluorodeoxyglucose activity on PET-CT scan. His spleen size was at the upper limit of normal (13.3 cm). He was treated with frequent boosters of conjugated pneumococcal vaccines (e.g., Prevnar-13) and use of immunoglobulin replacement therapy was considered by the medical team.\nThe grandmother (II.1) reported frequent otitis externa and colds as a child. As an adult she had two pneumonias and two episodes of shingles, and was treated for Hodgkin's lymphoma (2A, mixed cellularity) at 33 years old. She has allergic rhinitis to dust and molds, frequent rhinosinusitis, persistent warts, and persistent onychomycosis. The great-grandmother (Patient I.1, 78 years old) suffered from recurrent warts, shingles and sinusitis over the years. A clinical evaluation was offered to the great grandmother at MUHC but never performed. The index patient, father and grandmother were subsequently evaluated at the NIH Clinical Center in 2015 and again in 2017. On physical exam, warts were noted on the index patient (one on toe) and father (multiple on hands). The most recent flow cytometric evaluation of PBMC confirmed expansion of naive and immature B cells in the index patient, with few class-switched memory B cells detected (Table 1). The same pattern was evident in the father and grandmother, although circulating B cell counts decreased inversely with age. PCR indicated moderate EBV viremia in both father and grandmother (3.13 and 4.45 Log10 IU/ml). Serum IgE levels were slightly elevated in the index patient; otherwise total immunoglobulin levels were normal for all subjects. For the father, random antibody titers against rubella, measles, and VZV were normal, but absent against mumps. The grandmother showed normal antibody titers to measles, rubella, mump, tetanus and HIB, with poor responses to Pneumovax (5/23 serotypes detected).\nAffected patients displayed multiple clinical hallmarks of B cell Expansion with NF-kappaB and T cell Anergy (BENTA) disease, including (a) splenomegaly, (b) polyclonal B cell lymphocytosis, featuring elevated naive/immature B cells with few class-switched memory B cells, (c) poor responses to pneumococcal vaccines, (d) bacterial/viral infections including pneumonias, molluscum contagiosium/warts, and moderate EBV viremia. Because BENTA is caused by gain-of-function (GOF) variants in the lymphocyte scaffold molecule CARD11, we focused on CARD11 as a potential candidate gene. Sanger sequencing was first performed on genomic DNA isolated from peripheral blood mononuclear cells (PBMC) from the index patient (IV.1) and his father (III.1). This analysis revealed a heterozygous four amino acid deletion and missense mutation within exon 5 of CARD11 (NM_032415.3 c.701_713delinsT, p.His234_Lys238delinsLeu, hereafter referred to as H234LDelta235-8) (Figures 1B,C). The grandmother and great-grandmother were later confirmed to carry the same pathological mutation (Figure 1B). A CARD11 expression plasmid of this variant was constructed and expressed in a variant of the Jurkat human T cell line (JPM50.6) that lacks endogenous CARD11 expression and harbors an NF-kappaB-driven green fluorescent protein reporter (GFP). Similar to a confirmed gain-of-function (GOF) CARD11 mutation (E134G), H234LDelta235-8 induced constitutive NF-kappaB activation in unstimulated cells, increasing slightly upon TCR/CD28 crosslinking (Figures 2A,B). However, unlike E134G, co-expression of H234LDelta235-8 with WT CARD11 sharply reduced constitutive NF-kappaB activity. Strikingly, H234LDelta235-8 also significantly reduced WT CARD11-dependent NF-kappaB activation following TCR/CD28 stimulation (Figure 2B). Protein expression of WT, E134G and H234LDelta235-8 CARD11 were similar in transfected cells (Figure 2C). Co-immunoprecipitations in WT Jurkat transfectants revealed a substantial reduction of total CARD11 association with BCL10 and MALT1 following stimulation in the presence of H234LDelta235-8 but not WT or E134G CARD11 (Figure 2D). This decrease in CARD11-BCL10-MALT1 (CBM) complex formation was comparable, but slightly less pronounced, than that noted with a bona fide dominant negative (DN) CARD11 variant R47H. Moreover, FLAG-tagged CARD11 variants co-precipitated with WT GFP-tagged CARD11 when co-expressed in JPM50.6 cells, indicating WT CARD11 can directly associate with mutant CARD11 protein regardless of stimulation (Figure 2E). Taken together, these results suggest the H234LDelta235-8 CARD11 mutant can disrupt normal activation-induced CBM complex assembly and NF-kappaB signaling in T cells through DN interference. Similar to other patients harboring CARD11 DN variants, we also observed marked defects in NF-kappaB p65 phosphorylation and IkappaBalpha degradation in stimulated primary CD4+ T cells from patients III.1 and IV.1 relative to healthy control subjects (Figure 2F).\nAt baseline, the patient (IV.1) and his father (III.1) showed marked B-cell lymphocytosis: 51.6% and 44.5%, respectively, of their PBMC were CD19+ B-cells, compared to 13.8% for the patient's mother (healthy control, HC) and 10.2 +- 4.4% for a reference cohort. The majority were naive IgM+IgD+ B-cells (IV.1 74.9%, III.1 52.1%, HC 8.4%). To assess in vitro B-cell differentiation, PBMC (1 x 106/mL) were cultured for 7 days with anti-CD40 (1 mug/mL), IL-4 (200 U/mL), and IL-21 (50 ng/mL) at 1 x 106 PBMC/mL in complete medium [RPMI 1640 + 10% FBS, 2 mM glutamine, 1 mM sodium pyruvate, 15 mM HEPES buffer (pH 7.0), and 100 U/ml penicillin/streptomycin]. IL-21 promotes B-cell differentiation into class-switched (CS) memory and antibody-secreting plasma cells in the presence of CD40 signaling, and IL-4 enhances these effects. Cells from patient (IV.1) and father (III.1) not only displayed poor short-lived plasma cell differentiation (Figure 3A, top panel) compared to the healthy mother (IV.1 0.6%, III.1 2.4%, HC 12.1%), but also decreased CD27+ memory B-cell differentiation including IgM- CD27+ CS memory B-cells (IV.1 2.4%, III.1 4.4%, HC 20%) (Figure 3A, bottom panel). B cell differentiation phenotypes were quantified in Figure 3B. These results were associated with marked decreases in production of IgM (IV.1 0.2 mg/L, III.1 0.4 mg/L, HC 3.7 mg/L), IgA (IV.1 0.0 mg/L, III.1 0.1 mg/L, HC 1.7 mg/L), and IgG (IV.1 0.4 mg/L, III.1 2.1 mg/L, HC 6.5 mg/L) (Figure 3C). Purified T cells from affected family members showed impaired proliferation in response to anti-CD3/CD28 Ab stimulation in vitro, which was largely rescued by more robust stimuli (Ab crosslinking or Ab-conjugated beads) (Figures 3D,E). Nevertheless, patient T cells secreted less IL-2 in response to all stimuli (Figure 3F, Supplementary Figure 2). These results are consistent with previous work demonstrating that BENTA patient B-cells exhibit intrinsic differentiation defects despite enhanced survival in vitro, whereas T cells from both BENTA (CARD11 GOF) and CARD11 DN patients are hyporesponsive in vitro.",
"gender": "Female"
}
] |
PMC6299974
|
[
{
"age": 14,
"case_id": "PMC9479491_01",
"case_text": "We report a 14-year-old male patient who has experienced progressive gait disturbance characterized by difficulty in maintaining balance since the age of 4 years. He is the first child of healthy, non-consanguineous Chinese parents with no family history of gait disorders. The boy was referred to have had normal development until 4 years of age, when parents started noticing unsteady gait with frequent falling down, cognitive, and speech worsening. At age 7 years he presented ataxia increasing with effort, dysarthria, gait disorders, slowness, learning difficulties, exercise intolerance and fatigue needing to rest. The boy at the age of 10 years was admitted for his first neurological examination, which revealed markedly cerebellar syndrome with gait ataxia and dysarthria attention, and mild cognitive and executive function decline. Physical examination revealed pes cavus, but no scoliosis or other musculoskeletal deformities. Deep tendon reflexes of the lower extremities were disappeared and the plantar response was flexor bilaterally. Light touch, pinprick, and vibration sensation were absent, and the Romberg test was positive. Neurological examination was characterized by gait imbalance and absence of dystonia, chorea, tremor and dyskinesia (Supplementary Video 1). His extraocular range of motion was adequate in all directions, with no apparent OMA on reflex saccade examination. The boy at the age of 14 was screened by a trained neurologist and were noted a mild cognitive impairment. The clinical manifestations were consistent with AOA1.\nBiomedical tests for ceruloplasmin, serum immunoglobulin, alpha-fetoprotein, ferritin, urethane lactate, pyruvate, liver and kidney function, electrolytes, hemoglobin, vitamin E and B12 were performed. No results were abnormal except for hypoalbuminemia (30.5 g/L, normal range 40-55 g/L) and mildly elevated cholesterol (6.1 mmol/L, normal range <5.2 mmol/L). Serum alpha-fetoprotein (AFP) level was normal. The patient's visual evoked potentials were abnormal in low-amplitude responses on binocular and monocular tests, although it was not appreciated on history or physical examination. Nerve conduction study showed reduced nerve conduction velocities and low sensory and motor action potentials indicating sensorimotor axonal polymorphic peripheral nerve damage. The lower extremity muscles were biopsied, and histological analysis showed that the size of muscle fibers varied slightly, showing neurogenic pathological changes. Magnetic resonance imaging (MRI) of the head showed atrophy of the cerebellum with no involvement of the brainstem or cerebral cortex, and low signal loss in the cerebellar dentate nucleus on sensitivity-weighted imaging (SWI) (Figure 1). MRI scan was evaluated by an experienced radiologist. Written informed consent was obtained from the parents for publication and accompanying images.\nGiven the tentative diagnosis of cerebellar ataxia, genetic evaluations for spinocerebellar ataxia (SCA1, 2, 3, 6, 7, 8, 10, 12, 17, 36), dentatorubral-pallidoluysian atrophy (DRPLA), and the autosomal recessive ataxias Friedreich's ataxia (FRDA) were performed and shown to be negative.\nWe then performed WES to identify the genetic lesions responsible for the disease phenotype of the proband. The main part of WES was provided by the Novogene Bioinformatics Institute (Beijing, China). The exomes were captured using Agilent SureSelect Human All Exon V6 kits (Agilent Technologies, Sta Clara, CA, USA), and high-throughput sequencing was performed using Illumina HiSeq X-10 (Illumina, San Diego, CA, USA). The basic bioinformatics analysis including Reads, Mapping, Variant detection, Filtering, and Annotation were also endowed by Novogene Bioinformatics Institute. The strategies of data filtering refer to Figure 2. Sanger sequencing was applied to validate the candidate variants identified in whole-exome sequencing. Cosegregation analysis was conducted in all family members of this study. The primers were as follows: c.739C>T (forward: 5'-AAGTCAGGCAGAGAGGTGGA-3', reverse: 5'-CGTTACCATTGGCTGGTCTT-3'); c.501dupG (forward: 5'- CAAGGCAGAGGGGATATTCA-3',reverse: 5'- GAGGCAGGAGAATCACTTCG-3'), and the sequences of the polymerase chain reaction (PCR) products were determined using the ABI 3100 Genetic Analyzer (ABI, Foster City, CA).\nAfter data filtering, a nonsense mutation in exon 7 (c.739C >T; p.Arg247*) and a frameshift mutation in exon 6 (c.501dupG; p.Ser168Glufs*19) were identified by using WES,and they were co-segregated with the affected members (Figure 3). The patient's father carried a single heterozygous mutation (c.501dupG), and his mother carried a single heterozygous mutation (c.739C>T). Mutation in APTX c.501dupG, which has not been reported previously, located at Chr9:32,986,011(Exon 6).\nCurrently, the patient has accepted medicine (Idebenone20 mg daily and CoQ10 30 mg daily) and supportive procedures including rehabilitation therapy, and speech therapy. However, the boy experienced no significant clinical improvement following the procedure.",
"gender": "Male"
}
] |
PMC9479491
|
[
{
"age": 20,
"case_id": "PMC8599274_01",
"case_text": "A 20-year-old Quarter Horse gelding weighing 510 kg was referred to the University of Pennsylvania's New Bolton Center Large Animal Hospital with a history of acute, severe, non-Weight-bearing lameness of the right front limb. His pain level was severe enough to be mistaken for colic or an acute neurologic event. A physical exam revealed that the gelding was tachycardic at 80 beats per min. He was tachypneic at 44 breathes per min. His rectal temperature was within normal limits at 100.7 Fahrenheit. Colic and neurologic exams revealed no abnormalities in these body systems. Muscle fasciculations of the right triceps brachii muscle were present, and the caudal antebrachium was diffusely firm, with edema present medially from the olecranon to the accessory carpal bone (ACB). Radiographs of the cubital joint, radius, and radiocarpal joint were unremarkable. An ultrasonographic evaluation of the antebrachium revealed increased echogenicity of the superficial digital flexor (SDF) muscle from the musculotendinous junction proximally. There was loss of the normal architecture of the musculotendinous junction of the SDF. The disruption in the tendon fibers was most severe at 23 cm proximal to the ACB where 80% of the SDF muscle fibers were disrupted with loss of regularity and longitudinal orientation. The percentage of damaged fibers decreased but remained abnormal distally to the level of the ACB. The flexor carpi ulnaris muscle had interrupted muscle fibers in approximately 40% of the cross-Sectional area with the severity distributed similarly to the SDF muscle. In addition to fiber pattern disruption, many areas of mixed echogenicity and fluid pocketing were seen, consistent with hemorrhage, in both the SDF muscle and the flexor carpi ulnaris. A diagnosis of traumatic SDF and flexor carpi ulnaris muscle tears was made. The gelding was treated with phenylbutazone (4.4 mg/kg IV q12 h; VetOne, Boise, ID, USA), and a compression bandage was placed. The lameness remained unchanged following three doses of 4.4 mg/kg phenylbutazone IV every 12 h. Based on recorded findings in the medical record, 36 h after presentation, the gelding was spending more than 50% of the time recumbent.\nDue to the lack of adequate responsiveness to systemic treatment and the > 50% of time spent recumbent, the decision was made to provide spinal analgesia by epidural morphine treatment. The gelding was sedated with detomidine (0.02 mg/kg IV, Zoetis, Parsippany, NJ, USA) for placement of a cervical epidural catheter as previously described. A 20 x 20 cm area to the right of the mane, caudal to the right ear, centered over the first cervical (C1) and second cervical (C2) intervertebral space was clipped and aseptically prepared. Ultrasound was used to localize the space between C1 and C2 and visualize the spinal cord, subarachnoid space, and paraspinal tissues. The skin and musculature deep to the proposed insertion site was locally anesthetized using 5 ml 2% mepivacaine (Carbocaine , Zoetis, Parsippany, NJ). The ultrasound probe (Philips Lumify, C5-2 broadband curved array 2-5-MHz probe) was covered in a sterile plastic shield containing ultrasound transmission gel. A single operator (SDH) then controlled both the ultrasound probe and the 17-gauge 6-inch curve-tipped spinal needle with stylet (Tuohy). Using ultrasound guidance, the Tuohy needle was advanced dorsal to the probe until just adjacent to the dura. The stylet was removed, and 0.9% saline was placed in the hub. Next, the needle was advanced until loss of resistance and a positive hanging drop were observed. The epidural catheter (FlexBlock , 19-gauge, 60 cm, Arrow International Inc., Reading, PA, USA) was then advanced through the spinal needle by a second operator (KH). The Tuohy needle was then withdrawn, removing the stylet of the epidural catheter with it. The first placement attempt was unsuccessful. There was increased resistance to passage of the catheter, and contrast radiography revealed subdural placement. This catheter was removed, and the horse was re-sedated. The second attempt with a new catheter was successfully placed in the epidural space with 6-7 cm of the catheter passed through the Tuohy needle. Correct positioning of the catheter was confirmed based on the loss of resistance, the hanging drop technique, the ability to pass the catheter caudally, and contrast radiography. The epidural catheter was then secured with cyanoacrylate glue at the insertion site, and the external length was sutured to the skin and secured using adhesive dressings.\nStarting 36 h after the gelding's admission to the hospital, his pain was scored using a composite measure pain scale that has been previously described. This scoring system accounts for weight bearing, head carriage, location within the stall, gross pain behavior, and response to interaction. In addition to epidural morphine, the gelding was maintained on phenylbutazone (2 mg/kg PO every 12 h; VetOne, Boise, ID) for 7 days then 1 mg/kg PO every 12 h for 7 days.\nPain assessment and scoring were performed four times per day by a board-certified anesthesiologist (KH). The pain scores from just prior to epidural catheter placement until hospital discharge are depicted in detail in Figure 1. Prior to epidural catheter placement, the pain score was at the maximum allowed by the scale at 22. Thirty min following epidural catheter placement, 50 mg morphine sulfate (0.1 mg/kg BW; Henry Schein, Melville, NY, USA) diluted to a total volume of 5 ml with sterile saline was administered. Preservative-free morphine was not available at the time that this case was hospitalized. The morphine was administered with the gelding's head in an elevated position over a 30-min period to promote caudal movement of the epidural drug. The gelding's head remained elevated for 20-30 min following each morphine administration throughout his hospitalization. Twenty-four h after the second treatment, the morphine dose was reduced to 25 mg diluted to 5 ml with sterile saline over 20 min (0.05 mg/kg BW). This resulted in a pain score of 2/22 which increased to 5/22 by 12 h post-Administration; therefore, the same dose was repeated. The pain score remained acceptably low initially; however, by 12 h after the preceding morphine dose, a slight increase in pain was noted (score 5/22) and 25 mg diluted to 5 ml in sterile saline was administered a third time over 30 min. The gelding's time spent recumbent dropped to <10% 6 h after the first morphine dose. Throughout the remainder of the gelding's hospitalization, his pain score remained low (1-2/22) and no further morphine doses were administered. In response to epidural morphine, the heart rate decreased and remained within physiological limits for the remainder of his hospitalization (Figure 2).\nThe cervical epidural catheter was removed 48 h after the last morphine administration. There was no swelling or discharge from the catheter site while indwelling or following removal while in the hospital. At the 2-month telephone follow-up, the gelding was walking without lameness. The owner confirmed no heat, discharge, swelling, or pain at the insertion site of the catheter.",
"gender": "Male"
}
] |
PMC8599274
|
[
{
"age": 31,
"case_id": "PMC4038000_01",
"case_text": "A single case was selected from a larger group study. This study was approved by the Institutional Research Ethics Committee, and written informed consent was provided by the subject, a 31-year-old male who had been screened for pre-existing medical conditions, was selected as he suffered from vasovagal pre-syncope during a challenge that comprised induction of isocapnic hypoxia with a target arterial oxygen saturation (SpO2) of 80 %.\nThe pHOS, described in more detail elsewhere, combines frequency domain (FD) and broadband (BB) components. Changes in chromophore concentration were estimated by using the changes in light attenuation as measured by the BB spectrometer, using the UCLn algorithm to resolve for three chromophores - oxyhaemoglobin (HbO2), deoxyhaemoglobin (HHb) and oxCCO - between 780 and 900 nm. A fixed differential path length factor (DPF) of 6.26 was used to enable comparison with previous studies. The FD component measured the absolute absorption and scattering coefficients (mua and mus, respectively) at discrete wavelengths 690, 750, 790 and 850 nm, allowing the estimation of DPF at each of these wavelengths using the diffusion approximation. The pHOS optode was placed over the FP1 point on the right side of the forehead.\nOther monitoring included beat-to-beat SpO2, continuous non-invasive arterial blood pressure, and transcranial Doppler (TCD) ultrasonography was used to measure middle cerebral artery flow velocity (Vmca), insonating through the right temporal window, ipsilateral to pHOS monitoring. Estimated relative cerebral oxygen delivery (ecDO2) was calculated as the product of changes in SpO2 and Vmca (relative to their initial values). Synchronization between the pHOS and other monitors was performed by means of a signal voltage output by the frequency domain spectrometer for the length of recording; all data were resampled to a sample period of 3.2 s across the length of recording. Twenty-second data windows were selected for the reporting of summary data. Changes in hemoglobin species concentration are expressed as total hemoglobin ( [HbT] = [HbO2] + [HHb]) and hemoglobin difference ( [HbDiff] = [HbO2] - [HHb]). All analysis was carried out in Matlab 2011b.",
"gender": "Male"
}
] |
PMC4038000
|
[
{
"age": 38,
"case_id": "PMC9019075_01",
"case_text": "The patient, a 38-year-old Chinese female, presented to the general surgical outpatients clinic with a 18-month history of intermittent right upper abdominal pain, back pain, nausea and vomiting. The examination of the patient's medical history revealed good general health, absence of systemic diseases, and smoking habit. The physical examination was normal. These symptoms were not decreased in patient treated with oral acid-inhibitory drug and cholagogue at the local hospital.\nUltrasound of the abdomen showed a retroperitoneal tumor measuring 4.8 x 2.3 cm (Figure 1). To further confirm the diagnosis, Abdominal contrast enhanced computed tomography (CT) revealed a retroperitoneal mass 34 mm x 27 mm in size, near right renal veins extending to inferior vena cava, and it was pushing the pancreas forward (Figure 2). Abdominal contrast enhanced CT did not reveal any evidence of retroperitoneal enlarged lymph nodes. The border between the tumor and IVC was indistinct at the arterial phase, the venous phase and the delayed phase (Figure 2). To determine the primary site of the tumor and whether metastasis had occurred, The patients' complete examination included head magnetic resonance imaging (MRI), chest CT and cardiac ultrasound. The patient refused to undergo PET-CT due to financial constraints. The cardiac ultrasound and brain MRI were normal. The CT scan of the chest showed a tumor in the lingual segment of the upper lobe of the left lung, consisting of ground-glass nodules with unclear boundaries; The tumor was approximately 1.3 cm x 1.1 cm in size and multiple short burls can be seen around the edges of the tumor. There were no enlarged lymph nodes in the mediastinum (Figure 3). Bronchoscopy was performed to clarify the nature of the tumor, showing acute inflammation of the bronchial mucosa. Pulmonary tumor may be metastases of inferior vena cava tumors, primary lung cancer or benign pulmonary nodules. Therefore, the patient was discussed in the multidisciplinary tumor board meeting to determine the best treatment strategy. Discussion the results suggest surgery as the only effective treatment for inferior vena cava tumors and pulmonary tumor. The patient first underwent resection of IVC sarcoma. And 1 month later, the patient underwent wedge resection of pulmonary by thoracoscope without preoperative pulmonary biopsy.\nThe patient underwent resection of IVC sarcoma, which was located at the confluence of the renal vein into the inferior vena cava. After the proximal and distal clamp, the tumor and the involved IVC were completely removed from the infrahepatic IVC to just above the right renal vein. In order to save operation time, the inferior vena cava was reconstructed with artificial blood vessels. Blood loss was around 400 ml during the operation. Post operatively, patient made a good recovery without serious complications.\nThe postoperative pathological specimens showed that the size of the tumor was 6 x 4 x 3 cm, which was lobulated, the capsule was intact, and there was no metastasis in the surrounding lymph nodes. The histopathological examination showed a well-circumscribed mass composed of spindle cells arranged in interlaced and bundles (Figure 4). The tumor cells are fusiform, slender and rich in cytoplasm. The nucleus is deeply stained, the end is blunt, located in the center, with a certain degree of heteromorphism and pleomorphism (Figure 4). A few fused nuclei were also seen. Immunohistochemistry analysis revealed the tumor to be positive for smooth muscle actin (SMA), myoglobin, desmin, Epithelial Membrane Antigen (EMA), Transducin-Like Enhancer of split 1 (TLE-1), h-caldesmon, vimentin, CD99 and Ki-67:40%, and negative for CD 117, CKp, CK7, Bcl-2, S100, CD31, CD34, Dog-1 and STAT-6. These findings support the diagnosis of IVC sarcoma.\nAfter 1 month, the patient underwent thoracoscopic wedge resection of the upper lobe of left lung. The lung tissues 20 mm from the edge of the nodule, including the nodule, was removed with a linear cutting closure device. There were no obvious blood loss and complications during or after the operation. Blood loss was around 50 ml during the operation. Post operatively, patient made a good recovery without serious complications.\nGrossly, the resected lung tissue was approximately 6 x 4 x 3 cm in size with an solid mass measuring 0.8 x 0.8 cm in the central area. Patient underwent pathologically confirmed complete anatomical resection of the primary tumor, therefore the surgical margin was >2 cm. There were no enlarged or suspected lymph nodes in the mediastinum during the operation, so mediastinal lymph node dissection was not performed. The histopathological examination of the excised mass showed lung adenocarcinoma (Figure 5). Immunohistochemical staining of the tumor cells revealed positive expression for CK7, napsin A, TTF-1 and Ki-67:20%, and negative expression for CK5/6, p63, p40, Syn, CgA, CD56 and LCA. Cells from a squamous cell carcinoma are generally CK5/6, p40 and P63 positive and TTF-1 and Napsin A negative whereas adenocarcinoma cells are generally CK7, Napsin A and TTF-1 positive while being negative for p40 and CK5/6. In addition, the patient's lung tissue specimens were consulted by pathologists in Fudan University Cancer Hospital and Gansu Cancer Hospital, and the pathologists of the two hospitals agreed on the diagnosis of lung adenocarcinoma. The patient received gefitinib tablets (250 mg per day) as a maintenance therapy during the perioperative period. Follow-up based on patient's recent medical history, chest and abdominal physical examination, complete blood count, liver function tests, tumor markers monitoring, ultrasound scan of the abdomen every 3 months, CT scans of the lung, abdomen and head every 6 months. 20 months after resection of inferior vena cava leiomyosarcoma, the contrast-enhanced CT images show two lump about 1.2 and 0.7 cm in diameter in upper lobe (Figure 6) and lower lobe of the right lung (Figure 7). According to the examination results, it may be metastasis of inferior vena cava sarcoma or recurrence of lung adenocarcinoma. Thoracoscopic wedge resection was performed in patient after the discussion by thoracic surgery department. The immunohistochemical results of postoperative specimens were consistent with the metastasis of inferior vena cava leiomyosarcoma (Figure 8). Immunohistochemical staining of the tumor cells revealed positive expression for SMA, desmin, vimentin and h-caldesmon and Ki-67:70%, and negative expression for CD117, S100, CD34, and Dog-1. Histopathological examination of the right lung mass confirmed the diagnosis of the inferior vena cava leiomyosarcoma metastasis. The patient received oral anlotinib treatment (12 mg once daily) after the last operation. The follow-up items are the same as before. During on-going regular follow-up visits no evidence of recurrence or metastasis was observed from December 2020 to October 2021 (Figure 9).",
"gender": "Female"
}
] |
PMC9019075
|
[
{
"age": 42,
"case_id": "PMC4901150_01",
"case_text": "A 42-year-old male, recently diagnosed with acquired immune deficiency syndrome (AIDS) and a CD-4 count of 35 cells/mm3, presented with abdominal pain, nausea, vomiting, and anorexia. During the course of his hospitalization, the patient's abdominal pain and associated symptoms improved, but he became more somnolent and fatigued. He fell twice while ambulating and after the falls reported having occipital headaches without vision changes. There was no other significant change in mental status, but a new right-eye lateral-gaze palsy was identified. The patient denied having any history of visual disturbances and, other than previous gastrointestinal symptoms with weight loss, the review of systems was negative.\nThe examination most notably identified an afebrile, somnolent patient with the ability to arouse when stimulated, focus on questions, and follow commands. He demonstrated a right sixth-nerve palsy manifested as a lateral-gaze defect in that eye, in conjunction with both horizontal and vertical nystagmus bilaterally. Muscle tone and strength was slightly reduced in all extremities (measuring 4/5 on the Medical Research Council's grading system).\nDue to the repeated falls and possible brain trauma, a noncontrast CT scan of the head (Figs. 1A and 1B) was obtained and was concerning for a subarachnoid hemorrhage (SAH). This finding lead to a neurosurgical evaluation with a subsequent CT angiogram of the brain (obtained due to the possible presence of a ruptured aneurysm). The angiogram failed to identify an aneurysm or other source of intracranial bleeding. An external ventricular drain was placed (due to suspicions of hydrocephalus) and allowed for cerebrospinal fluid sampling.\nThe patient's initial CSF was clear, without xanthochromia, with a white-blood-cell count (WBC) of 2 cells/mm3, red-blood-cell (RBC) count of 73 cells/mm3, and total protein of 5 mg/dL. A second tube's WBC count was 1 cell/mm3, and the RBC count 12 cells/mm3. The CSF culture grew cryptococcus neoformans, with a positive cryptococcal antigen in the blood.\nThe findings on the CT scan were therefore felt to be consistent with a pseudosubarachnoid hemorrhage (PSAH). This is based on the fact that decreasing RBC count between the first and second tube typically indicates a traumatic tap as the source of the red blood cells. The only way to definitively rule out SAH would be to document clear CSF on a repeat lumbar puncture, which was not performed in this instance. We feel strongly, however, that the combination of a decrement in RBC count in the CSF coupled with a lack of xanthochromia, a negative CT angiogram, and a documented infectious explanation for the findings, provides strong and sufficient evidence against SAH as the mechanism for this patient's CT scan findings.\nThe patient's mental status continued to deteriorate, and an MRI of the brain (Figs. 2A and 2B) suggested rhomboencephalitis with cerebellar swelling contributing to effacement of the fourth ventricle. His intracranial pressure continued to rise uncontrollably, leading to his death.",
"gender": "Male"
}
] |
PMC4901150
|
[
{
"age": 55,
"case_id": "PMC7332490_01",
"case_text": "A 55-year-old male patient with a medical history of systemic arterial hypertension was admitted to the neuroemergency department, after being transferred from another service, with a report of sudden, intense thunderstorm headache, associated with the left eyelid ptosis and diplopia. During the neurological examination, the patient was awake, lucid, and oriented. He had complete palsy of the left oculomotor nerve, with no other focal neurological deficits. Neck stiffness was present.\nCranial CT performed on the day following the headache showed no SAH, but showed an expansive process in the sella turcica associated with sellar enlargement [Figure 1]. SAH was then confirmed by lumbar puncture (Fisher I). A cranial angio-CT was made and revealed an intradural saccular aneurysm in the cavernous segment of the left internal carotid artery (ICA) [Figure 2].\nThe patient underwent cranial microsurgery for cerebral aneurysm clipping that confirmed the intradural location of the aneurysm, arising from a tortuous cavernous ICA [Figure 3].\nHe underwent control cerebral angiography on the 2nd postoperative day that demonstrated complete aneurysm occlusion [Figure 4], with no residual neck and no vasospasm and complemented the study with magnetic resonance imaging (MRI) of the sella turcica that was consistent of pituitary macroadenoma with apoplexy [Figure 5]. He was discharged on the 21st day after the hemorrhage, maintaining complete left oculomotor nerve dysfunction, but with no other complaints and no neurological deficits.",
"gender": "Male"
}
] |
PMC7332490
|
[
{
"age": 72,
"case_id": "PMC6302554_01",
"case_text": "A 72-year-old female presented with a Fisher Grade 3 and World Federation of Neurological Societies Grade V aneurysmal subarachnoid hemorrhage (SAH) and an acute left traumatic subdural hematoma (SDH) post fall [Figure 1a and b]. Cerebral angiography showed a superiorly projecting 5.5x3.4x3.7 mm3 aneurysm arising from the supraclinoid internal carotid artery (ICA) [Figure 2a]. The aneurysm incorporates the origin of the right ophthalmic artery and has a 2.5 mm neck. A left ophthalmic artery aneurysm and bilateral cavernous ICA aneurysms were also found.\nShe underwent balloon assisted coiling of the right paraophthalmic aneurysm using microvention coils one day after the SAH [Figure 2b]. The right ophthalmic artery remained patent with partial contrast opacification of a loosely packed anteroinferior aneurysm adjacent to the ophthalmic artery origin.\nAngiography one week post coiling showed severe vasospasm of the bilateral A1s and its distal branches [Figure 3a and b]. The patient was treated with intra-arterial verapamil and nimodipine. Repeat angiography one day later showed ongoing severe stenosis in bilateral A1s and the patient was again treated with intra-arterial vasodilators with improvement in the anterior cerebral artery (ACA) vessel caliber and perfusion to the ACA territory. She remained clinically stable with ongoing mild left hemiparesis post-procedure.\nThree weeks after the intra-arterial treatment, the patient became hemodynamically unstable and developed a right sided hemiparesis. CT scan showed evolution of the left acute SDH into a chronic SDH with mass effect. She underwent an uneventful burr hole evacuation of the left SDH with resolution of her right-sided hemiparesis.\nHer post-treatment course was complicated by vasospasm requiring two take backs for endovascular intra-arterial treatment and evacuation of the left SDH. CT one month after admission showed a new 27x25 mm2 low density area in the right posterior frontal lobe suggestive of ischemia. She remained a febrile with no signs of meningism, however, developed worsening left-sided hemiparesis and confusion. Magnetic resonance imaging (MRI) showed significant enhancement around the coil mass and multiple ring-enhancing lesions in the right frontal, parietal, and occipital lobes with surrounding edema [Figure 4a-c]. Magnetic resonance angiography (MRA) showed a small anterior protrusion into the supraophthalmic portion of the right ICA.\nIntra-arterial blood distal to the coils was obtained for culture. Attempted biopsy of the emboli was abandoned after post sampling angiography showed a filling defect at the right middle cerebral artery (MCA) bifurcation. Repeat right ICA angiography showed clearance at the MCA bifurcation with migration of the thrombus to a single M2/M3 branch. Thrombectomy was not attempted because of the risks of hemorrhage in the setting of possible infective arteritis. Peripheral and intra-arterial blood cultures were negative. White cell count WCC, C-reactive protein (CRP), and chest X-Ray (CXR) were unremarkable. Transesophageal echocardiogram was negative for valvular vegetations. She was commenced on dexamethasone and intravenous vancomycin 1g BD, ceftriaxone 2g BD, and fluconazole 400 mg. Tissue biopsy was not taken in light of antibiotic commencement and the likelihood of obtaining a sterile sample.\nOne month after the commencement of antimicrobial therapy, MRI brain demonstrated resolution of many of the enhancing foci with significant decrease in the size of the surrounding vasogenic edema [Figure 4d-f] despite corticosteroids being ceased two weeks prior. Patient remained clinically stable with significant improvement in her left-sided hemiparesis and was discharged to rehabilitation for further therapy.",
"gender": "Female"
}
] |
PMC6302554
|
[
{
"age": 63,
"case_id": "PMC7351623_01",
"case_text": "A 63-year-old man attended our hospital with heavy abdominal pain in January 2016. The CT revealed a mass with elevation of tissue fascia and free air near the cecum (Figure 1A). Accordingly, the patient was diagnosed with perforation of the cecal diverticulum, and open drainage and construction of ileostomy was performed. After 3 months, the patient received right hemicolectomy and closure of the ileostomy. We did not detect the mass from the resected specimen (Figure 1B), and pathological examination revealed no malignancy.\nThe patient experienced a palpable mass in the left abdomen from May 2017 and attended our department in December 2017. The enhanced CT revealed a 38-mm mass, resembling a dyeing ring in the left rectus abdominis muscle. The mass was located near the scar of ileostomy closure (Figure 2). The size of hernia orifice from the epigastrium to the pubic bones was approximately 20 cm.\nAfter 4 months, the MRI revealed a 40-mm mass in the left rectus abdominis muscle. T2 weighted image showed a low intensity area similar to muscle (Figure 3A), and the tumor was uniformly enhanced (Figure 3B).\nWe performed endoscopic ultrasound (EUS) and fine needle aspiration of the mass and reached the pathological diagnosis of desmoid tumor. Because the patient had pain at the mass and at the point of abdominal incisional hernia, we planned resection of the abdominal desmoid tumor and repair of incisional hernia.\nWe performed a midline incision similar to the previous scar and cut a spindle shape around the mass at 2-cm margin from the mass (Figure 4A). There was no exposure of the tumor at the abdominal side. We used the Harmonic ScalpelTM (Ethicon Endo-Surgery, Cincinnati) to cut the muscle to prevent bleeding (Figure 4B). Next, we removed the rectus abdominis muscle from the left lateral end. The abdominal wall defect measured 10 cm x 10 cm (Figure 4C). The hernia was repaired with a simple closure using anterior layer of rectus sheath and the defect was closed by suturing the right anterior layer of rectus sheath to the left aponeurosis of external oblique muscle (Figure 4D). Considering the risk of recurrence of abdominal wall hernia at the defect site, we decided to repair the defect with autologous fascia. We used a fascia lata patch measuring 15 cm x 5 cm (Figure 4E) to repair the defect in the left abdomen (Figures 4F and 5A-C).\nThe size of the mass was 45 mm x 45 mm, and it was a solid tumor. The macroscopic view of the resected tumor revealed its whitish color (Figure 6A). Pathological analysis revealed the growth of fibroblasts, defect of the nuclear heteromorphism, and presence of abundant collagen fibers between fibroblasts (Figure 6B). Additionally, a nuclear-positive image of beta-catenin was observed on immunostaining (Figure 6C). The pathological diagnosis was desmoid-type fibromatosis. No recurrence of incisional hernia and desmoid tumor was detected 22 months after surgery.",
"gender": "Male"
}
] |
PMC7351623
|
[
{
"age": 24,
"case_id": "PMC4759896_01",
"case_text": "A 24-year-old healthy male presented to King Khalid Eye Specialist Hospital, Riyadh, Saudi Arabia, complaining of blurred vision in his right eye for 1-week. Best corrected visual acuity was 20/70 in the right eye and 20/20 in the left eye. Intraocular pressures were normal bilaterally. In the right eye, there were no keratic precipitates and the anterior chamber was quiet with no cells or flare. Vitreous cavity was quiet and clear. Clinically, evident exudative retinal detachment was visible on dilated fundus exam and documented with optical coherence tomography (OCT). The exudative retinal detachment included the macula with deep creamy yellow choroidal infiltrates adjacent to an old chorioretinal scar along the superior temporal arches. The left eye was unremarkable. Fluorescein and indocyanine green angiography revealed two areas of early hypofluorescence at the choroidal level, which persisted to the final phase with surrounding hyperfluorescence on fluorescein angiography. Late indocyanine green showed defined areas of hypofluorescence corresponding to a scar and recent choroidal ischemia [Figure 1]. IgG and IgM were positive for toxoplasmosis.\nBased on the clinical presentation, fluorescein angiography, OCT, and serology, the patient was diagnosed with atypical ocular toxoplasmosis with exudative retinal detachment and choroidal ischemia. The patient was managed with Bactrim and clindamycin for 6 weeks. Oral prednisolone 1 mg/kg was initiated after 48 h of antiparasitic therapy.\nThree months after initiating treatment, the clinical presentation improved with complete resolution of subretinal fluid and restoration for vision to 20/20. 6 months from initial therapy, vision remained 20/20 with complete remission of signs and symptoms [Figure 2].",
"gender": "Male"
}
] |
PMC4759896
|
[
{
"age": 36,
"case_id": "PMC9263511_01",
"case_text": "A 36-year-old Han-Chinese right-handed man (patient III-10, the proband) developed anxiety, depression, sleep disorder, and tremor in his hands after a panic attack but without known medical history. His cognitive state declined, and he was unable to perform job duties due to memory loss. At 11 months after onset, the patient became withdrawn, and more deterioration of his cognitive function was observed, indicated by the difficulty in calculating, being lost at home, and frequently forgetting the names of acquaintances. Besides, the tremors spread to bilateral limbs, which led to difficulty in cake decoration (the patient's profession). After 16 months of onset, he was diagnosed with depression and anxiety and was prescribed sertraline, fluphenazine, and piracetam. At 17 months after onset, he was scored 20 of 30 on the Chinese Mini-Mental Status Examination (MMSE), and 15 of 30 on the Montreal Cognitive Assessment (MoCA Beijing Version). The Hamilton's Depression Scale was 7. At 19 months after onset, he developed hallucinations, which made him see his sons as enemies, and occasionally, he protected himself via aggressive behaviors.\nIn the clinic, the diagnosis of possible behavioral variant Frontotemporal Dementia (bvFTD) was considered because of the abnormal neuropsychological profile, such as early apathy and executive/gene deficits with relative sparing of memory and visuospatial functions.\nA thorough neurological examination 20 months after the onset revealed a total deterioration of the cognitive state, dysarthria, slight hypermyotonia, and deep tendon hyperreflexias in the bilateral limbs, and the patient presented cogwheel-like rigidity. He had difficulty finishing the finger-to-nose test and heel-knee-tibia test due to tremors in his limbs. The patient was unsteady when walking on a straight line. No involuntary movement was observed. He scored 15 of 30 on the Chinese MMSE, and 9 of 30 on the MoCA Beijing Version. The Hamilton's Depression Scale was 7.\nTo our surprise, the brain MRI demonstrated abnormal intensities in the bilateral caudate nucleus, putamen, and cerebral cortex. A series of laboratory examinations were performed for the rapidly progressive early-onset dementia. The autoimmune screening and tumor marker identification were shown to be unremarkable or negative. An extensive panel for paraneoplastic antibodies including Amphiphysin, CV2, PNMA2 (Ma2/Ta), Ri, Yo, Hu, titin, SOX1, recoverin, zic4, GAD65, and Tr (DNER) were tested, and all were negative. Serology and cerebrospinal fluid (CSF) tests for HIV, cryptococcus, syphilis, tuberculosis, bacteria, fungus, and virus showed no evidence of inflammation. In addition, CSF 14-3-3 protein was tested to be negative. RT-QuIC tests of skin and CSF were also negative (Figure 2).\nDiffusion-weighted imaging (DWI) sequences displayed restricted diffusion in the bilateral frontal and parietal cortex (Figures 3A-D). DWI hyperintensities were revealed in the bilateral basal ganglia, bilateral pulvinar, and dorsomedial thalamus (Figures 3E-J). Fluorodeoxyglucose PET (FDG-PET) exhibited hypometabolism in the bilateral cerebral cortex and right basal ganglia (Figure 4).\nAn empiric course of pulse IV gamma globulin was tried without notable improvement.\nAt 22 months after onset, the hypermyotonia of the patient in the bilateral limbs became more obvious. He had occasional urinary incontinence, and his ability to study was relatively reserved when he scored 21 of 30 on the Chinese MMSE. The MRC Scale score was 13 of 20. The Hamilton's Depression Scale was 6. EEG showed diffuse slow waves. MRI scanning indicated no obvious change compared to images 2 months earlier.\nA follow-up study with the MRC Scale revealed gradually developed aphasia, gait disorder, and fecal incontinence 30 months after onset. The patient is still alive, 4 years after the onset, while the MRC Scale score was 2 of 20, and his swallowing function and mobility were still preserved (Table 1).\nThe clinical features indicated that the patient might have prion disease. To determine the etiology of the disease, we extracted genome DNA from peripheral blood leucocytes of the patient and performed a direct DNA sequencing of the PRNP coding sequence. Unexpectedly, a rare mutation of G114V and 1-OPRD of the PrP in the patient was identified (Figure 5). Given that only a few patients with gCJD were reported to carry the G114V PRNP variant, we suspected that the mutation in the patient might be inherited from his parents, and we, thus, enrolled his immediate family members in this study for a genetic investigation.\nAlthough the medical record was not available, the maternal grandmother (patient I-2) of the proband was found to have progressive dementia in her 60s, which was within 1 year before her death, and subsequently developed a tremor in her last few months. The proband's mother (carrier II-8) received examination when she was 61 years old, but no neuropsychiatric symptoms were observed. She scored 29 of 30 on the Chinese MMSE and 21 of 30 on the MoCA (Beijing Version). Although the EEG showed slow waves in the left temporal lobe, both cranial MRI (including DWI) and FDG-PET were unremarkable. A follow-up study revealed that she suffered an acute cerebral infarction in the callosum 18 months after the first examination. No cortical ribbon was found by DWI to date (Table 2). Whereas DNA sequencing revealed a G114V mutation and 1-OPRD of PrP in this individual. The elder son of the proband (carrier IV-1) received DNA sequencing at age 10, and G114V mutation and 1-OPRD were also found, although he did not show any clinical symptoms. No further examination was performed due to his age. No autopsy or biopsy were performed on any of the patients.",
"gender": "Male"
}
] |
PMC9263511
|
[
{
"age": 50,
"case_id": "PMC7358707_01",
"case_text": "A 50-year-old male presented to our center with a one-month history of progressive right-sided weakness and urinary incontinence. He also reported intermittent neck and right-sided body pain, fever and night sweats. He unintentionally lost around 18 lbs. in weight. Systemic review was unremarkable, particularly for headaches, vomiting, dysphasia, dysphagia, altered sensorium, seizures, cognitive impairment and change in vision. On clinical examination he was found to be emaciated and depressed. No signs of instability, pallor, jaundice, palpable lymph nodes or meningism were identified but oral thrush was noted. Examination of cardiovascular system, chest, and abdomen revealed no abnormality. Neurological examination revealed diffuse muscle wasting, global hypertonia and hyperreflexia as well as significantly reduced power on the right side. Sensation was diminished on the right side of body. Initial blood investigations including basic hemo-gram and biochemical profile were unremarkable except for mild relative lymphopenia.\nMagnetic Resonance Imaging (MRI) of the brain showed multiple, bilateral and asymmetrical ring enhancing (T1 hypo-intense, T2 and FLAIR hyper-intense) lesions of varying sizes in cerebral hemispheres, right basal ganglia and cerebellum with perilesional edema. The largest lesion was located on right frontal lobe and measured 30 x 24 mm, surrounded by vasogenic edema and causing mass effects (Fig. 1: A). HIV tests panel reported as following: positive antibodies screening test; viral load = 317,077 RNA copies/mL; helper cells (CD4) Count 7/muL, CD4:CD8 ratio = 0.03. Screening for Cryptococcus and TORCH (Toxoplasmosis, Rubella, Cytomegalovirus and Herpes) was negative. Lumbar puncture is thought to be unsafe in view of increased intra-cranial pressure.\nThe patient underwent diagnostic brain biopsy. No organism was seen on gram, India ink and acid-fast stains. 24 h later, some whitish dry non-hemolytic colonies were observed on 5% sheep blood agar and chocolate plates. Gram staining of the colonies revealed medium to long beaded, non branching gram-positive rods, which were positive for modified acid-fast stain as well. At this stage and considering the clinical presentation, suspicion of Nocardia or other aerobic Actinomyces was raised. However, 48 h later, the growth looked slightly pinkish with undulating margins. Using API Coryne strip (BioMerieux SA, Marcy l'Etoile, France), the isolate was identified biochemically as Rhodococcus species. However, as this was inconsistent with morphological observations, we performed 16S rRNA gene sequencing which matched that of Gordonia sputi. The E-test minimum inhibitory concentration (MIC) was reported as following (in mug/mL): vancomycin 1.5; ceftrixone 1.5; imipenem 0.023; amikacin 0.19; gentamycin 0.032; meropenem 0.19; ciprofloxacin 0.125.\nThe patient was empirically begun on meropenem, vancomycin and rifampicin at admission to hospital. In light of antibacterials sensitivity tests, consensus opinion was to continue on this regimen for extended period of at least 4-6 weeks. Anti-retroviral (efavirenz, emtricitabine and tenofovir) treatment was started 2 weeks later. Repeated MRI after a month of treatment showed interval resolution of most of the lesions with remaining few lesions in the upper cerebrum with development of right frontal subdural hematoma adjacent to the previously noted large lesion and post-biopsy related changes (Fig. 1: B).\nThe patient showed slow but apparent clinical improvement and remained clinically stable and afebrile. Unfortunately, after a month of hospitalization he developed progressive shortness of breath, hypoxemia and hypotension and was shifted to ICU with hospital acquired pneumonia. Chest radiograph showed bilateral infiltrates. Acinetobacter sensitive to colistin was isolated from sputum. Accordingly, colistin was added as well as trial of corticosteroids for possibility of Immune Reconstitution Inflammatory Syndrome (IRIS). Patient continued to deteriorate despite all supportive measures and, unfortunately, died few days after admission to ICU.",
"gender": "Male"
}
] |
PMC7358707
|
[
{
"age": 79,
"case_id": "PMC5738199_01",
"case_text": "A79-year-old Haitian man with a three-year history of painful oral ulcerations, progressive dysphagia, and weight loss who presented to our medical center directly after arrival from Haiti. On evaluation, the patient complained of acute worsening of oral pain, odynophagia, dysphagia and a two-week history of hoarseness. He also described weight loss, generalized weakness, and an intermittent non-pruritic, non-vesicular rash. The patient's past medical history was significant for hospitalization three years prior for diffuse oral ulcerations, dysphagia, and a wide-spread non-pruritic, keloid-like rash present on his torso and bilateral upper extremities. Nonspecific gastritis and a hiatal hernia were found on endoscopy; no further evaluation was performed and the patient was lost to follow-up. The patient traveled frequently between Haiti and New Jersey and had been a plantation farmer in Haiti since childhood. He worked primarily with vegetable crops, but had exposure to chickens, cows, and pigs. His sexual history was significant for multiple female sexual partners with only occasional condom use. He denied prior history of sexually transmitted diseases. He denied tobacco, alcohol, or illicit drug use.\nOn initial examination the patient was cachectic and appeared chronically ill. Vital signs included a temperature of 37.3 C, heart rate of 84 beats per minute, respiratory rate of 16, and blood pressure of 221/105 mmHg. Oxygen saturation was 100% on room air. His weight was 42.9 kg with a body mass index of 14.8. He had pronounced bitemporal wasting, bilateral erythema of the forehead and cheeks and diffuse left-sided facial swelling. Multiple 3-5 mm ulcerations were present throughout the oral cavity, including on the hard and soft palates, tongue, and buccal mucosa. There was diffuse oropharyngeal edema and mucosal pallor and dryness. He was breathing comfortably with no stridor or wheezing. Additional findings included bilateral anterior cervical chain lymphadenopathy and hypopigmented and hyperpigmented areas of skin on the thorax, abdomen and extremities, including the soles of both feet.\nSignificant laboratory findings included hyperkalemia (potassium 5.2 mg/dL), anemia (hemoglobin 11.6 g/dL) and hypoalbuminemia (albumin 3.3 mg/dL). Chest radiographs demonstrated pronounced airway narrowing and neck radiographs severe oropharyngeal and hypopharyngeal airway narrowing with subepiglottic stenosis. Computed tomography of the neck was performed and revealed diffuse thickening of the mucosal oropharynx, supraglottic larynx, aryepiglottic folds, piriform sinuses, and true/false vocal cords (Fig. 1, Fig. 2). Subsequent evaluation by otolaryngology with laryngoscopy revealed a granular edematous epiglottis, right aryepiglottic fold, and nasal vestibules without evidence of any distinct masses.\nMalignancy, autoimmune, and infectious etiologies were considered and further diagnostic studies were obtained. HIV antigen/antibody testing, HTLV, HSV, CMV, and RPR antibody tests were negative. His CD4 count was 345 cells/muL (normal 300-1400 cells/muL) with a decreased CD4 percentage of 21.3% (normal 28-57%) and an inverted CD4/CD8 ratio of 0.35 (normal 1.0-3.6). Histoplasma urine antigen and serum complement fixation antibody were negative. Interferon-gamma release assay (QuantiFERON -TB Gold) was negative. Epstein-Barr virus IgM and IgG were both positive. ANA was positive at a low titer (1:160) with a non-specific pattern. C3 and C4 values were within normal limits. Anti-smith, anti-RNP, anti-SSA/SSB, and C1 esterase inhibitor antibodies were negative. Serum protein electrophoresis was notable for an elevated IgG level of 1964 nmg/dL, of which 30.7% was composed of gamma globulin. His sedimentation rate was 59 mm/h and C-reactive protein was 10 mg/L. Blood cultures, including fungal blood cultures, were negative. Throat cultures grew Klebsiella pneumoniae and Serratia marcescens.\nOral pharyngeal squamous cell carcinoma was considered the leading diagnosis and a biopsy of a labial mucosal ulcer was performed. Histologic examination of the biopsy revealed granulomatous mucositis with multinucleated giant cells containing multiple budding yeast forms (Fig. 3) that stained with Grocott's methenamine silver (Fig. 4) and were consistent with histoplasma species. Staining for acid-fast organisms was negative. Histoplasma was not recovered from tissue fungal cultures.\nOn histologic identification of yeast consistent with Histoplasma, therapy with daily intravenous liposomal amphotericin B (5 mg/kg daily) was initiated. Despite aggressive intravenous saline hydration, acute kidney injury developed after only three doses of amphotericin, necessitating a change in antifungal therapy to itraconazole suspension. Due to the patient's extensive oropharyngeal inflammation and failed fiberoptic endoscopic swallow evaluations, a percutaneous endoscopic gastrostomy was placed for nutrition and administration of itraconazole. Computed tomography of the chest, abdomen and pelvis obtained to evaluate for disseminated histoplasmosis were unremarkable. The patient had rapid clinical improvement in his symptoms with initiation of antifungal therapy. His serum itraconazole levels were measured and were therapeutic. He was discharged home with a planned 12-month course of itraconazole.",
"gender": "Male"
}
] |
PMC5738199
|
[
{
"age": 57,
"case_id": "PMC7255984_01",
"case_text": "A 57-year-old woman, a pharmacist with considerable exposure to COVID-19 patients, presented to a clinic in Tehran with headache and malaise with the onset of 5 days prior to admission. She did not report any respiratory symptoms, fever, chills or gastrointestinal symptoms and was previously healthy, not taking any medications. Laboratory work-up was ordered in an outpatient visit by a general practitioner. The results showed significant thrombocytopenia with a platelet count of 48,000 (per/mm3) associated with a normal, neutrophil dominant (75 %) white blood cell count of 7100 (per/mm3) and relatively decreased lymphocytes (14 %). Based on laboratory findings she was admitted to a referral hospital in Tehran for evaluation of severe thrombocytopenia. Upon admission she had a core body temperature of 36.9 C, a 81 bpm pulse rate (PR), a 14/min respiratory rate (RR) and a peripheral capillary oxygen saturation (SPO2) of 95 % while breathing room air. No abnormalities were detected during the physical examination and auscultation and chest radiological studies were unremarkable.\nIn the following laboratory studies, patient's platelet count continued to decline to 16,000 (per/mm3), as shown in Table 1, and a peripheral blood smear (PBS) taken on the 2nd day of admission showed considerable left shift with myeloid predominance and a platelet count of less than 10,000 (per/mm3).\nAbdominal pelvic sonography was normal without organomegaly and other viral markers including HCV-Ab, HBs-Ag, HBc-IgM and HIV-Ab and serum protein electrophoresis were unremarkable. Given the hematopoetic abnormalities, a bone marrow aspiration and biopsy was under consideration. Also, considering her high-risk work environment, COVID-19 diagnostic testing was performed and a nasopharyngeal swab was positive for COVID-19 in a RT-PCR test. The complete blood count (CBC) of the patient was re-checked twice daily and after 1 day of admission the platelet count started to increase slightly (Table 1). The PBS of the 4th day of admission showed no platelet aggregation or giant platelets. Her platelet levels returned to normal by the 5th day of admission at which point she was discharged and with the remission of platelet levels, a bone marrow aspiration and biopsy was no longer necessary. One-week follow-up revealed a platelet count of 270,000 (per/mm3).",
"gender": "Female"
}
] |
PMC7255984
|
[
{
"age": 81,
"case_id": "PMC6831797_01",
"case_text": "We present the case of an 81-year-old patient from England with a history of arterial hypertension, atrial fibrillation anticoagulated with Warfarin, and obesity. She also took antihypertensive drugs and beta-blockers, but no bisphosphonates. She had no history of previous fractures due to fragility. She had previously undergone right total hip resurfacing arthroplasty due to osteoarthritis when she was 65. While on holiday, she fell down some stairs and was sent to A&E due to pain and functional deficit of the right hip. During the examination, it was discovered that her right lower limb was shortened and externally rotated. There were no distal neurovascular alterations. Plain radiographs revealed a periprosthetic fracture with a spiral pattern, which started in the cervical area and reached the subtrochanteric area (Fig. 1).\nAfter the 4-day Warfarin washout period, the patient's fracture was surgically treated by means of open reduction and internal fixation with trochanteric plate and three cerclages. The prosthesis was not removed, as it was not mobilized. Postoperative radiographs revealed a satisfactory reduction of the fracture (Fig. 2, Fig. 3).\nPostoperative recommendation given to patient was walking with crutches in discharge of the limb affected for two months, and after that progressive support.\nThe follow up period of this patient was limited because of her nationality (she returned to England one month after surgery). On his first consultation, three weeks postoperative, wound was well healing with no evidence of infection and radiographic control was satisfactory, but the patient should continue in discharge of that limb for five weeks more.",
"gender": "Female"
}
] |
PMC6831797
|
[
{
"age": 5,
"case_id": "PMC5566717_01",
"case_text": "A 5-year old boy presented to the pediatric plastic surgery clinic for hypernasal speech. He was born with a cleft palate and underwent repair at 11 months of age. A short velum was noted (Fig 1), so he underwent palatal lengthening with double-opposing buccal flaps. Postoperatively, his hypernasality was corrected.\nWhat is velopharyngeal dysfunction (VPD)?\nHow is velopharyngeal insufficiency (VPI) diagnosed?\nWhat treatment options are available for VPI?\nWhat is the palatal lengthening with double-opposing buccal flaps procedure?",
"gender": "Male"
}
] |
PMC5566717
|
[
{
"age": 80,
"case_id": "PMC7472920_01",
"case_text": "An 80-year-old man was diagnosed with lung adenocarcinoma carrying the EGFR point mutation at L858R; he was admitted to our hospital for treatment. He had no history of smoking or drinking and no allergic constitution. Lung computed tomography (CT) scan showed left upper lung tumor and hilar and mediastinal lymph node enlargement (Fig. 1). There were no metastatic regions; therefore, the clinical stage was characterized as cT3N3M0 stage IIIc. Normally, chemoradiation is performed. However, considering his age and complications such as hypertension, paroxysmal atrial fibrillation, and pneumoconiosis, osimertinib therapy was initiated at a dose of 80 mg per day. Two months later, he showed symptoms of fever and anorexia. His left axillary was swollen with pain. The levels of C reactive protein (6.79 mg/dl), serum immunoglobulin G (IgG) (1888 mg/dl), G4 (IgG4) (137 U/ml), and E (IgE) (603 U/ml), and serum soluble IL-2 receptor (1150 U/ml) were elevated. Although the size of the primary tumor clearly reduced (Fig. 2A), multiple lymph nodes including the left axillary around the abdominal artery were enlarged, and the fat around the aorta to pelvic area was cloudy (Fig. 2B). To confirm metastatic lymphadenopathy, ultrasonography-guided biopsy of the axillary lymph node was performed. Histological analysis showed infiltration of lymphocytes and plasma cells with fibrosis (Fig. 3C and D). Immunohistochemistry indicated IgG4-positive plasma cell infiltration with an over 30 cell count per high-power visual field (HPF) and an IgG4 to IgG ratio of more than 40% (Fig. 3E and F). According to these findings, multiple swollen lymph nodes were diagnosed with IgG4-related disease. Prednisolone (0.6 mg/kg/day) was administered, and improvement of his symptoms and multiple lymphadenopathies was observed (Fig. 4).",
"gender": "Male"
}
] |
PMC7472920
|
[
{
"age": 66,
"case_id": "PMC10077779_01",
"case_text": "A 66-year-old man (height: 158 cm; weight: 67 kg) underwent removal of a right knee cyst. He had type 2 diabetes mellitus with chronic kidney disease (glomerular filtration rate [GFR]: 50) and a history of myocardial infarction that occurred 12 years prior, with a stent inserted in the right coronary artery. He was diagnosed with BS with a type 1 Brugada pattern on an electrocardiogram (ECG) five years ago and has been followed up with a cardiologist regularly. He had no syncope history or family history of sudden cardiac death. In the preoperative examination, all blood tests, including cardiac enzymes, were normal. Chest radiography revealed no active lung or heart disease. The ECG showed a coved V1 pattern, which remained unchanged [Figure 1]. Transthoracic ECG revealed normal-sized cardiac chambers with normal left ventricular systolic function (ejection fraction: 60%) and concentric left ventricular hypertrophy without regional wall motion abnormality. He stopped aspirin five days before surgery but continued beta-blockers and other diabetes medications.\nThe anesthesiologist planned a peripheral nerve block for surgical anesthesia. In the operating room, ECG, pulse oximetry, and noninvasive blood pressure were monitored throughout the surgery, and a defibrillator was prepared. Initially, blood pressure was 130/80 mmHg, heart rate was 68 beats/min, and oxygen saturation was 98%. Oxygen at a rate of 2 L/min was delivered via nasal cannula.\nPeripheral nerve blocks were performed under ultrasound guidance, and needles with a nerve stimulator were used. Local anesthetic (55 cc) was prepared in aseptic conditions, which included 0.75% ropivacaine (15 cc), 2% lidocaine mixed with 0.3 mL of epinephrine (25 cc) and normal saline (15 cc). The patient was placed in the supine position, and the hip was slightly abducted and externally rotated. The femoral, lateral femoral cutaneous, and the obturator nerve were identified by ultrasound. A 22-gauge, 2-inch stimulating needle was advanced to the target nerves and the nerve stimulator was used to localize the nerves by twitching the corresponding muscle. Then, a bolus of local anesthetic was injected for femoral nerve block (20 cc), lateral femoral cutaneous nerve block (5 cc), and obturator nerve block (5 cc). All injection was done slowly with intermittent aspiration. For sciatic nerve block (SNB) and posterior femoral cutaneous nerve block (PFCNB), the patient was laterally positioned and knee was flexed. Both nerves were identified by ultrasound and a 22-gauge, 4-inch stimulating needle was advanced to the target nerves. The nerve stimulator was used by same way and 20 cc for SNB, 5 cc for PFCNB was injected. The patient's position was changed to supine again, and the surgery was initiated. The surgery took 25 min and the cyst was successfully removed. No hemodynamic or ECG pattern change were observed during surgery. The patient's visual analogue scale (VAS) score was 0/10 in post-anesthesia care unit. After 6 hours, the VAS was 3/10. The patient was discharged the day after surgery without any complication.",
"gender": "Male"
}
] |
PMC10077779
|
[
{
"age": 12,
"case_id": "PMC5887785_01",
"case_text": "A 12-year-old left hand dominant boy, with no chronic illnesses presented to the University Hospital of the West Indies after being involved in a motor vehicle accident. He had been traveling in a minivan with his right upper limb dangling through the window, when a car, ran into the side of his vehicle resulting in a complete transection midway through his right arm.\nHe arrived at hospital some 45 min postinjury accompanied by the amputated extremity which had not been cooled in ice. After resuscitation, he was immediately transferred to the operating theatre. The stump and the amputated extremity were not significantly contaminated. There was, however, moderately devitalized tissue.\nBoth ends were debrided and then irrigated with normal saline. An arterial shunt was placed across the brachial artery. The humerus was shortened 2 cm and then fixed with a dynamic compression plate (see figure 1). Definitive arterial, then venous repair was then performed, followed by epineural repair of the major peripheral nerves. All repairs were done primarily with the aid of magnifying loupes. The muscles of the anterior and posterior compartments were repaired. The repairs were protected in an above elbow dorsal plaster for 6 weeks. Postoperative potassium and other electrolytes were found to be normal. Physical therapy was commenced with passive range of motion exercises of the major joints and splinting in a functional position.\nFour years postoperatively, he had 5-80 degrees of active range of motion (AROM) of elbow flexion. He had a 40 degree wrist flexion contracture and AROM was 40-60 degrees of wrist flexion. There was an inability to abduct or adduct all fingers. The fingers were all 40 degrees hyperextended at all of the metacarpophalangeal joints. He had fixed deformities of 90 degrees at the proximal interphalangeal joints and 45 degrees at the distal interphalangeal joints (see figures 2-4). All myotomes in which there was movement had either grade two or three power. He had partial sensation of the median and ulnar nerve autonomous zones. There has been no sensation in the radial nerve autonomous zone. Peripheral pulses were normal.\nHe had to repeat a year (grade) in school, but was currently passing all of his classes at school. He participates in sporting activities in a very limited capacity; however, this was not much different to his preinjury activity level.\nAlthough there was suboptimal function, both patient and parents were satisfied with the overall surgical result as their main concern was preservation of the limb. They had no interest in secondary procedures being performed to improve function. He and his parents were satisfied with the appearance of his pain-free limb. He enjoyed a good relationship with his peers.",
"gender": "Male"
}
] |
PMC5887785
|
[
{
"age": 8,
"case_id": "PMC8349526_01",
"case_text": "An 8-year-old boy suffered significant swelling and blistering of his penis at 24-h post-circumcision. A medical practitioner performed the circumcision. The circumcision was performed using a sterile instrument and suture material (plain catgut 3/0) with circumcision technique and local anesthetic nerve block with lidocaine hydrochloride 20 mg/mL and epinephrine 12.5 mcg/mL per 2 mL ampoule. The anesthetic solution was administered using the penile nerve block technique. The pain sensation and swelling were apparent approximately 1 h after the circumcision and became prominent 3-4 h after circumcision. Five hours after the circumcision, the swelling had worsened, and a blister appeared at the skin of the penile corpus. At 24-h post-circumcision, the swelling had improved, but the blister remained (Figure 1). The penile glans was paler (an ischemic sign), with incarcerating crust. Proper wound care with normal saline compress and wound crust cleansing was performed. On the second day after the circumcision, the blister had subdued, and the superficial ulcer was observed at the wound bed. On the third day, yellowish-necrotic tissue was observed on the lateral side of the glans (Figure 2). Neither gangrene nor pus was observed at the penis. One week after the circumcision, the wound at the glans and corpus was improved. Four months after the circumcision event, the penis had healed without any cicatrix (Figure 3). There was no disturbance in micturition or erection.",
"gender": "Male"
}
] |
PMC8349526
|
[
{
"age": 8,
"case_id": "PMC3047773_01",
"case_text": "An 8-year-old boy presented with a history of ingestion of a metallic screw about 3 months back, and otherwise asymptomatic. The physical examination and the laboratory investigations were within normal limits. Plain radiographs [Figure 1] of the abdomen showed a metallic screw in the right lower quadrant. At laparotomy, the screw was located inside the appendix. An appendicectomy was performed. The appendicular lumen was opened with a scalpel, and the screw was seen to be lodged inside it. The postoperative period was uneventful.",
"gender": "Male"
}
] |
PMC3047773
|
[
{
"age": 15,
"case_id": "PMC10345200_01",
"case_text": "A 15-years-old girl with an underlying history of epilepsy was sent to our hospital because of intermittent mood dysregulation and agitation for 4 months. The patient had no family history of epilepsy or autoimmune disease. She experienced her first episode of generalized tonic-clonic seizure, which lasted for over 30 minutes, at the age of 8 years. She was diagnosed as having encephalopathy related to Mycoplasma pneumoniae infection. She then received intravenous methylprednisolone, followed by a short course of low dose oral prednisolone. No further seizure was noted after the treatment, and the patient was lost to follow-up with no further medical treatment. No personality change or cognitive dysfunction was noted in the intervening years.\nOne year before her current admission, the patient noticed a progressive decline in confidence, insomnia, and poor memory, leading to difficulties in her interpersonal relationships and academic performance. She suffered from low mood, general fatigue, poor concentration and several somatic complaints such as headaches and extremity weakness. She visited a psychiatric clinic and took bupropion 150mg, and aripiprazole 20mg/day. Three episodes of generalized tonic-clonic seizure occurred during her depressive periods, which prompted her to seek medical attention. She underwent electroencephalography (EEG) at our pediatric neurology clinic, and the EEG results revealed right centroparietal spikes. She was then administered a regimen of topiramate 200mg/day, and she claimed to have complete remission of her mood and could return to school after treatments.\nFour months before the current admission, the patient complained of depressed mood, insomnia, poor appetite, poor concentration, and thoughts of helplessness. Moreover, she presented with sudden-onset agitation and self-harm behaviors, such as head banging or arm scratching, which she could not recall afterwards. The episodes occurred 3 times a day and lasted for 10 to 30 minutes each time. An aura involving machine sounds or flashes of light, occasionally preceded the mood and behavioral changes. She was admitted to our pediatric ward under the suspicion of seizure-induced behavioral change. Lamotrigine 10mg/day was added to her existing regimen of topiramate. A comprehensive neurological survey revealed no structural lesion on her brain magnetic resonance imaging scans and no abnormal findings in a cerebrospinal fluid (CSF) examination, but her 24-hour EEG revealed epileptiform discharges during the mood swings. Immunologic screening showed positive antinuclear antibodies (ANA, 1: 1280 speckled) and mildly decreased C3. Thyroid function, ovarian sonography, and tumor markers were within normal range. Surveys for viral infections were all negative. Under the impression of immune-mediated encephalopathy, methylprednisolone pulse therapy 1g/day was administered for 3 days, followed by oral prednisolone. However, her mood remission was only partial, and the involuntary agitation and self-harm behaviors occurred 2 months after discharge. She could not attend school owing to her depression and behaviors. When she later developed Steven-Johnson syndrome, lamotrigine was stopped and was replaced by valproic acid.\nBecause of her aggravated clinical agitation and self-harm behaviors, the patient was again admitted to our pediatric ward. Prolonged QTc (479ms) was noted during evaluation for chest tightness. EEG revealed paroxysmal focal spikes over the right frontoparietal area. Her serum sample was positive for ANA with a titer of 1:1280, suggesting autoimmune encephalitis. She received topiramate 150mg/day and valproic acid 400mg/day for epilepsy control. She also received fluoxetine 10mg/day and aripiprazole 5mg/day for depression. Further survey for an autoimmune etiology revealed positive serum anti-SSA antibodies (67.2 U/mL), positive serum cryoglobulin IgG, IgM, and positive ANA in her CSF ( Figure 1 ). Anti-Cardiolipin IgG, IgM, ribosome-P, anti-beta2-glycoprotein I IgG, anti-RNP, anti-SMD, MPO, PR3, rheumatic factor, anti-double stranded DNA, C3, and C4 levels were within normal limits, and HBsAg, anti-HBs, anti-HBc, anti-TPO, anti-THYG, anti-TSHR, anti-HCV levels were all negative. Anti-neuronal autoantibodies including aquaporin-4 (AQP4) antibodies, myelin oligodendrocyte glycoprotein (MOG) antibodies, glutamate acid decarboxylase (GAD) antibody, anti-N-methyl-D-aspartate receptor (NMDAR) antibody, Voltage gated potassium channel (VGKC)-associated protein (CASPR2) antibodies, VGKC-associated protein (LGI1) antibodies, Glutamate receptors (type AMPA1 and AMPA2) antibodies, gamma-aminobutyric acid type B (GABAB) receptor antibodies, Dipeptidyl aminopeptidase-like protein 6 (DPPX) antibodies were all negative. In accordance with her symptoms of dry eyes and dry mouth, the Schirmer's test was positive (2mm). Single photon emission computed tomography (SPECT) revealed cortical hypometabolism at the bilateral prefrontal, bilateral parietal, and bilateral visual cortices. We assessed her CSF again for anti-SSA antibodies and had a positive finding (0.4 U/mL). The CSF/serum ratio of anti-SSA antibodies (0.006) was three times higher than that of IgG (2.88 mg/dl/1470 mg/dl = 0.002). This result suggested local production of antibodies in the CNS rather than only passive transmission of antibodies from serum. On the basis of patient's clinical symptoms of ocular and oral dryness, positive findings for serum and CSF anti-SSA antibodies, and the Schirmer's test results, SS was diagnosed in accordance with the 2017 ACR-EULAR classification criteria.\nUnder the impression of SS-related autoimmune encephalitis and QTc prolongation, intravenous methylprednisolone 1g/day was administered for 3 days. The frequency and intensity of agitation decreased from approximately eight times per day to twice a day. After the QTc returned to normal, rituximab 500mg was infused intravenously. She had no further agitation or self-harm behaviors after the treatment of methylprednisolone and rituximab. We kept her antidepressants and antipsychotics and discharged her. She did not exhibit any involuntary agitations during outpatient follow-up. The patient reported an improvement in mood and began to bring life back on track. Figure 2 showed specific historical events and information in sequence.",
"gender": "Female"
}
] |
PMC10345200
|
[
{
"age": 45,
"case_id": "PMC6390208_01",
"case_text": "A 45-year-old man, who presented with left extremity edema after a 24-h trip and a deep vein thrombosis documented, was treated with anticoagulation with subcutaneous enoxaparin. The general condition was good, without weight loss. The patient did not have a medical history of relevancy, only smoking suspended 10 years ago. Routine blood cell counts and biochemical investigations were within the reference range. Serological tests for hepatitis B and C were negative. The computed tomography reported hypodense focal lesions with a predominantly peripheral enhancement to the administration of intravenous contrast in segments V and VI, the largest of 26 mm. Magnetic resonance imaging (MRI) reported five hypointense nodular lesions in T1, hyperintense in T2, which restricted in the diffusion sequence and in the dynamic phase presented target enhancement, said lesions located in segments V and VI, the largest of up to 22 mm. The tumor markers, including Alpha-fetoprotein (AFP), human chorionic gonadotropin (GCh), carcinoembryonic antigen(CEA), prostatic specific antigen (PSA), CA 125, and CA19-9, were within normal limits; after these findings, ultrasound-guided biopsy of liver segment V lesion was performed (Figure 1).\nThe decision of the multidisciplinary board was to begin primary monotherapy with thalidomide. MRI was performed 4 months later, documenting the progression of the disease with an increase of 20% in the size of the lesions; in the same month, a right hepatectomy without complications was performed, resecting all the visible lesions, and the histopathological report remained the same. Baseline 68Ga-DOTA-RGD PET/CT scan was performed (October 2015) that reported two residual lesions in the left lobe with a focal uptake of the radiotracer as well as an increase of 20% in the liver lesions. The therapy is modified to nintedanib 150 mg for 12 h for 6 months, and a control 68Ga-DOTA-RGD PET/CT scan is performed (January 2016) which documents progression of the disease. The treatment is continued without modification and the control 68Ga-DOTA-RGD PET/CT scan is repeated (July 2016), which again reports progression, which is why the dose of nintedanib is increased to 200 mg every 12 h and cyclophosphamide 100 mg is added every 24 h; 4 months later, a 68Ga-DOTA-RGD PET/CT scan was repeated to assess response to treatment reporting stable disease; meanwhile, functional status was poor (November 2016). Changes were decided in the treatment of combined immunotherapy Ipilimumab plus nivolumab posterior and 5 months 68Ga-DOTA-RGD PET/CT scan was performed for assessment of documented partial response (April 2017). With the same treatment, after 8 months, the patient presented a clinical improvement on PET/CT (December 2017; Figure 2); the patient remained clinically asymptomatic.",
"gender": "Male"
}
] |
PMC6390208
|
[
{
"age": 47,
"case_id": "PMC7727623_01",
"case_text": "A 47-year-old black male entrepreneur who frequently travelled between Portugal and Angola, returned from Africa 10 days before hospital presentation. He was admitted to the emergency department due to a 5-day history of diarrhoea (>5 episodes daily), worsening malaise, high fever, diaphoresis and occasional dry cough. He had no previous medical history, did not use drugs, did not have any addictions, and had not been in contact with anybody infected with COVID-19.\nAt hospital admission, the patient was conscious, febrile and tachycardic but haemodynamically stable. Physical examination was normal, without signs of dehydration, respiratory changes or abdominal discomfort. The initial blood work revealed mild anaemia (haemoglobin 12.1 g/dl), lymphopenia (lymphocytes 1260x109/l), thrombocytopenia (platelets 91x109/l) and elevated inflammatory parameters (C-reactive protein 25.1 mg/dl, ferritin 789 ng/ml), but no other abnormalities such as renal or hepatic changes. An HIV test was negative. A nasopharyngeal swab for SARS-CoV-2 PCR testing was positive, as were total antibody titres against SARS-CoV-2 detected using chemiluminescence assays (CLIA). A chest x-ray did not show any pleural effusions, lung consolidation or interstitial patterns.\nAfter he was diagnosed with SARS-CoV-2 infection, the patient was admitted to a COVID ward for further observation and symptom control. On the third day, he was still myalgic, generally unwell and febrile, despite being on antipyretics. Given the epidemiological history and the persistence of symptoms, a rapid diagnostic test for malaria parasite antigens was requested, and showed a positive result. Blood smear identified trophozoites of Plasmodium falciparum with a parasitaemia of 3.1% (parasite level of 83,520 parasites/mul). The patient did not meet any of the criteria for severe disease, and therapy with a combination of artemether and lumefantrine was administered. After 24 hours of treatment, symptoms completely resolved and the patient became afebrile. The platelet count normalized, and there was a consistent reduction in inflammatory parameters. Three days later, control microscopy revealed a parasitaemia of 0.3%, and on the sixth day the blood smear was negative for P. falciparum. The patient did not show any progressive respiratory symptoms, including decreased oxygen levels, or radiographic findings suggestive of SARS-CoV-2 infection. He was discharged completely asymptomatic 14 days after COVID-19 diagnosis.",
"gender": "Male"
}
] |
PMC7727623
|
[
{
"age": 7,
"case_id": "PMC6436336_01",
"case_text": "This is a 7-year-old male patient, with a diagnosis of Bruck syndrome proven by genetic testing (gene FKBP10 mutations: c.449G>A, p.Trp150Ter). He has no family history of OI or AMC, parental consanguinity, dentinogenesis imperfecta, blue sclera, or hearing loss and a birth weight of 3.2 kg. He was treated with bisphosphonates (pamidronate, 1 mg/kg/dose intravenously for three days per cycle with a cycle every four months) for five years and his most recent DEXA scan showed a lumbar z-score of -7, 4. Currently, he is nonambulatory and uses a power wheelchair. He has flexion contractures of both hips with a range of motion to 45 degrees on the right and 35 degrees on the left. Knee contractures limited the range of motion to 60 degrees on the right and 70 degrees on the left. His right ankle was dorsiflexed to neutral, and his left ankle to 30 degrees of dorsiflexion and 30 degrees of plantarflexion. Finally, his right foot had -10 degrees of abduction and 10 to 40 degrees of adduction, and his left foot had -10 degrees of abduction and 10 to 50 degrees of adduction.\nHe developed multiple orthopedic problems. His cervical spine developed progressive kyphosis with no basilar invagination. He required a spinal fusion from occiput to C4 at the age of 4 years, and recurrence of the deformity required revision spinal fusion from C1 to C5 at the age of 5 years (Figure 1). Kyphoscoliosis and thoracic deformity (\"barrel chest\" deformity) developed and progressed during growth to 45 degrees by the age of 7 years.\nFlexion contractures of the upper limbs were present at birth with limited elbow range of motion to 5 degrees on the right and 15 degrees on the left, wrists bilaterally, and left fifth finger. At the age of 7 years, he had a right ulna fracture that was treated by casting.\nIn his lower limbs, he had flexion contractures of the hips and knees at birth and bilateral clubfoot. Subsequently, he had multiple fractures in his lower extremities that were treated by operative intramedullary stabilization and had subsequent recurrence of deformities with growth requiring revisions. At the age of 2 years, he had intramedullary Rush rod fixation in the left femur and tibia. At the age of 3 years, the left femur recurred and he underwent revision with new intramedullary Rush rod fixation. At the age of 5 years, he had intramedullary stabilization of the right femur and revision of the left femur as well as left tibia intramedullary Rush rod fixation. At the age of 6 years, he underwent right tibia intramedullary Rush rod fixation and revision of the right femur with dual Rush rods. At the age of 7 years, he underwent left femoral and tibial rod exchange with Fassier-Duval rods (tibia with dual-locking plates and bone grafting). He had bilateral clubfoot treated with serial casting using the Ponseti method as an infant with deformity that relapsed until at the age of 7 years when he underwent bilateral Achilles tenotomies (Table 1).",
"gender": "Male"
},
{
"age": 24,
"case_id": "PMC6436336_02",
"case_text": "This is a 24-year-old female patient with Bruck syndrome proven by genetic testing (defects in PLOD2, mutation: c.517G>C; p. Alal73Pro). She has no family history of OI or AMC, parental consanguinity, dentinogenesis imperfect, blue sclera, or hearing loss and a birth weight of 2.5 kg. However, she has micrognathia. She ambulates with bilateral ankle-foot orthotics. She received bisphosphonate (pamidronate, 1 mg/kg/dose intravenously for three days per cycle with a cycle every four months) therapy for five years. Her last DEXA scan was normal for her age.\nJoint contractures were present in the upper and lower limbs from birth. The range of motion of both shoulders was limited to 90 degrees of flexion. Her hips were in 90 degrees of flexion with limited hip abduction, and her knees were in -30 degrees of extension. At 12 years of age, coliosis developed in the spine with a thoracic curve of 51 degrees and lumbar curve of 27 degrees. She also had spondylolisthesis at L5 and lumbar hyperlordosis (Figure 2). At the age of 13 years, she had a posterior spine fusion from C7 to T10.\nIn her upper limbs, she fractured her right olecranon at the age of 14 years. This fracture was treated by casting. At the age of 16 years, she fractured her right proximal humeral shaft, which was treated by an intramedullary flexible nail. Subsequently, at the age of 23 years, she developed left ulna nerve compression (cubital tunnel syndrome), which was treated by operative decompression and subcutaneous transposition.\nIn the lower limbs, she had bilateral clubfoot treated by casting. Operative realignment was performed on her right foot at the age of 2 years. At the age of 9 years, she fractured her right femur, which was treated by two intramedullary flexible nails. At the age of 11 years, she refractured the diaphysis of the right femur and bent the intramedullary rod, which required revision with repeat intramedullary flexible nailing. Her left femur was fractured when she was at the age of 12 years; this was treated with two flexible nails. At the age of 14 years, she developed left acetabular protrusio (Figure 3). At the age of 21 years, her right femur was fractured in the diaphysis, which was treated by a locking plate-intramedullary rod construct. The plate was removed when she was at the age of 22 years (Table 1).",
"gender": "Female"
},
{
"age": 6,
"case_id": "PMC6436336_03",
"case_text": "This is a 6-year-old male patient, with a suspected diagnosis of Bruck syndrome at the second day of life, proven by genetic testing (defects in PLOD2 and FKBP10, mutation: c.831dupC). There is no family history of OI or AMC, dentinogenesis imperfecta, blue sclera, parental consanguinity, or hearing loss and a birth weight of 2.8 kg. This child is also nonambulatory and uses a wheelchair in the community. He has hip flexion contractures of 15 degrees on the right and 25 degrees on the left). He has knee flexion contractures with popliteal angles of 30 degrees on the right and 40 degrees on the left. He has bilateral elbow flexion contractures of 10 degrees. His right foot is internally rotated, and his left foot is externally rotated. He uses bilateral knee-ankle-foot orthotics for support. He was treated with bisphosphonate (pamidronate, unknown dosage) from the age of 6 months to 3 years at another hospital. His last DEXA scan was normal for this age.\nAt 6 weeks of age, he developed fractures in the vertebral bodies and six right ribs, right clavicle, right radius, and bilateral femurs. The fractures healed with voluminous callus (Figure 4). Subsequently, the callus remodeled normally, and the limb bones grew into a gracile shape, appearing narrow at the cortex (Figure 5). At the age of 3 years, he had a right midshaft femoral fracture treated with spica casting. He had a left midshaft femoral fracture at the age of 4 years treated with splinting (Table 1).",
"gender": "Male"
},
{
"age": 4,
"case_id": "PMC6436336_04",
"case_text": "This is a 4-year-old male patient with a diagnosis of Bruck syndrome at birth. There is no family history of OI or AMC, parental consanguinity, dentinogenesis imperfecta, blue sclera, or hearing loss and a birth weight of 2.9 kg. Currently, he is nonambulatory and uses a wheelchair for all mobility activities. In his upper limbs, he had flexion contractures at birth of the elbow and wrist. The left upper limb is the most involved with contractures. His left elbow is unable to be extended past 90 degrees and the wrist beyond 30 degrees. In his lower limbs, he had a right midshaft femur fracture at birth and midshaft nondisplaced right tibia fracture at the age of 4 years. Both fractures were casted and no orthopedic surgeries have been required (Table 1). There was no treatment with bisphosphonates.",
"gender": "Male"
}
] |
PMC6436336
|
[
{
"age": null,
"case_id": "PMC4823498_01",
"case_text": "All three patients (one male and two females) who presented with a history of heavy snoring and excessive daytime sleepiness, indicated by a high Epworth Sleepiness Scale score, were referred to our department by a medical practitioner. They requested surgical treatment to enlarge their pharyngeal airway. Before surgical treatment, all three patients underwent a complete otorhinolaryngological physical examination that was conducted by a researcher. Body mass index, tonsil size, and palate grade were recorded for analysis. Body mass index was calculated as weight (kg)/height (m)2. Tonsil size and palate grade were evaluated according to the scale proposed by Friedman et al.. All patients were examined with overnight nocturnal polysomnography in our sleep laboratory in the standard manner, and each had an apnea hypopnea index >20 events/hour, indicating moderate-to-severe OSAS.\nBecause the patients had bilateral large tonsils, the UPPP surgical procedure to enlarge the pharyngeal airway was performed by a sleep surgeon under general anesthesia, according to the originally described technique. The large tonsils were removed bilaterally and the tonsil's weights were measured. All patients tolerated the surgery without complications.\nBody mass index and Epworth Sleepiness Scale score were evaluated both before and 3 months after UPPP. Polysomnography and 3D CT scanning were also performed at both time points. Postoperative polysomnography revealed moderate-to-great improvement in the severity of OSAS (Table 1).\n3D CT was performed under the same condition before and after UPPP. 3D CT was performed using a 64-row multidetector CT scanner (Brilliance 64 , Phillips, Cleveland, OH, USA) under routine neck examination conditions at the end of inspiration while the patients were holding their breath. Thin axial sections of 0.9 mm thickness at 0.45 mm intervals were obtained to reconstruct multiplanar reformation images and 3D CT images. Multiplanar reformation and 3D CT image reconstructions were performed at an image workstation (Ziostation2, Ziosoft, Tokyo, Japan), which enabled us to visualize and objectively quantify the dimensions and volume of the airway. Axial-view multiplanar reformation images were used for this analysis. The 3D CT images of the velopharyngeal and glossopharyngeal airway were constructed from images of areas in which the CT number was -400 Hounsfield units or less.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC4823498_02",
"case_text": "Axial and sagittal images of the glossopharynx before (Figure 1(a)) and after (Figure 1(b)) UPPP in patient 1 were shown in Figure 1. The maximal diameter of the glossopharynx in the transverse dimension and the minimal diameter in the anteroposterior dimension were recorded for analysis.",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC4823498_03",
"case_text": "In patient 1, the transverse diameter of the glossopharynx was enlarged from 6.4 mm preoperatively to 25.2 mm postoperatively, whereas the anteroposterior diameter was reduced from 27.8 mm to 17.6 mm. In like manner, in patients 2 and 3, the transverse diameter was enlarged, whereas the anteroposterior diameter was reduced postoperatively. To provide a better understanding of these morphological changes, the anterior-view 3D CT images of the velopharyngeal and glossopharyngeal airway in patient 1 before (Figure 2(a)) and after (Figure 2(b)) UPPP were shown in Figure 2. In addition, 3D composite images from before and after UPPP in patient 1 were also generated at an image workstation (ParaView , Kitware, Clifton Park, NY, USA). 3D images were adjusted for their opacities and displayed by superimposition in Figure 3.\nThe following limits were adopted when measuring the velopharyngeal and glossopharyngeal airway volume: the superior margin was the posterior nasal spine, and the inferior and anterior margins were the hyoid bone in the midsagittal view. The dimensions of the glossopharynx and the volume of the velopharyngeal and glossopharyngeal airway before and after UPPP in each of the three patients were summarized in Table 2. In all patients, the transverse diameter of the glossopharynx increased after UPPP, whereas the anteroposterior diameter decreased. Thus, morphological changes were observed after UPPP; however, the change in total air volume was negligible (Table 2).",
"gender": "Unknown"
}
] |
PMC4823498
|
[
{
"age": 44,
"case_id": "PMC483056_01",
"case_text": "A 44-year-old woman with secondary progressive MS was diagnosed at age 20 yr, per Lublin and Reingold. During the next 15 years she had 8 documented relapses which resolved with intravenous glucocorticoid therapy. The relapses decreased in frequency during this time, after which her clinical status deteriorated, with progressive development of quadriparesis, ataxia, fatigue and cognitive decline. In 1994, a trial of interferon beta-1b was discontinued because of increased spasticity, and she was not a candidate for glatiramer. She had no history of diabetes, cardiovascular, liver or kidney disease.\nWhen seen in 1999 her weight was 29.5 kg, down from 54.5 kg in 1976. She was paraplegic, wheelchair-bound, and exhibited paresis of the upper extremities with OMS (Oxford Muscle Strength) score of 2-3 out of 5 (Table 1) and an EDSS score of 8.0. Neurological presentation included paraplegia, bilateral central scotomata with visual-field loss, dysphagia, chronic fatigue, cognitive impairment similar to mild dementia, and depressed mood. In June 2000, having explained the rationale and risks, she consented to a trial of pioglitazone, which was initiated at 15 mg daily and increased by 15 mg biweekly to 45 mg. Improvement was evident within 4 weeks as increased appetite, cognition and attention span. Her weight increased from 27.3 to 35.9 kg (32%) after 12 months treatment, which was maintained between 34.6 to 36.2 kg throughout an additional 18 months. Weight gain was evident as increased muscle mass and peripheral fat, mainly in the hips, gluteal area, and limbs. Upper extremity strength and coordination progressively improved (Table 1). Improved fine coordination was noted unilaterally after 8 months (left finger-to-nose execution), and bilaterally after 15 months. Before pioglitazone, repetitive statements and forgetfulness, reminiscent of dementia, were problematic. After 8 months therapy, cognitive assessment demonstrated improvement in orientation, short-term memory (recall increased from 0/3 to 2/3 objects), attention span, registration and insight, and is consistent with clinical improvement. According to DSM IV criteria, her depression also improved significantly, along with the progressive gain in weight and improvement in neurological function as a whole. She was progressively able to tolerate outdoor social activities for several hours at a time, with improved stamina and well-being.\nDuring the study, two MRI studies with gadolinium (Gd) were performed, one 18 months after initiation of pioglitazone and the second 10 months later (Figure 1). There was no perceptible change in overall brain atrophy, extent of demyelination, or in Gd-enhancement indicating that at least over the 10 months between the MRI studies, the disease was quiescent. This also suggests that the beneficial effects of pioglitazone treatment were not associated with any overt improvement in pathology. After 3 years on pioglitazone, she continues to be clinically stable. There have been no adverse events, and her metabolic profile has remained normal throughout the study.",
"gender": "Female"
}
] |
PMC483056
|
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