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{
"age": 59,
"case_id": "PMC10313132_01",
"case_text": "A 59-year-old female patient with a 17-year history of DM was transferred to our Diabetic Foot Center due to a non-healing heel ulcer after 2 months of scalding. In the early stage of the disease, a large blister burst with much light-yellow exudation on the skin of the lesion site. Further, the amount of exudate decreased gradually, and the ulcer became black and failed to heal even with some conventional treatments such as dressing change and using antibiotics prescribed by another hospital.\nOn both of her feet, the skin temperature was low, and the pulse of the dorsalis pedis artery and posterior tibial artery could not be palpated. There was a large, round ulcer of approximately 5 cm x 5 cm in diameter and unclear in depth. Its surface was covered with large black scabs with a little yellowish exudation visible around it. The tissue around it was cool, dark red, and swollen (Figure 1A). Laboratory tests showed her peripheral blood white blood cell (WBC) was 9.1 * 109/L, of which neutrophils accounted for 79.9% and lymphocytes for 12.2%. Meanwhile, the erythrocyte sedimentation rate (ESR) was 79 mm/h, C-reactive protein (CRP) was 12 mg/dl, and procalcitonin (PCT) was 0.41 ng/ml. MRI of the diseased foot revealed local osteomyelitis on the calcaneal surface. B-scan ultrasound of her lower limb vessels showed diffuse moderate-to-severe stenosis in the middle and lower segments of the bilateral femoral artery. Computed tomography angiography (CTA) examination further indicated mild-to-severe stenosis in multiple segments of her bilateral femoral and popliteal arteries, as well as complete occlusion of her right femoral artery and posterior tibial artery (Figure 1B).\nThere are more than 10 classification methods for diabetic foot, such as Meggitt-Wagner, Texas, PEDIS, SINBAD, and WIfI. The contents and indications of these classification methods are different, and each of them has its own advantages and disadvantages. Among them, the WIfI classification has been proposed for the threatened lower limb, based on the three main factors that have an impact on limb amputation risk: wound (W), ischemia (I), and foot infection (\"fI\"). This classification is commonly used in patients with ischemic diabetic foot, with the advantage of clear evaluation indicators that can help guide the diagnosis and treatment of DFUs, but with the disadvantage of lacking evaluation of diabetic neuropathy. The patient in this case report was evaluated and diagnosed using the WIfI classification. The person in this case report was found to have a large ulcer on the heel with approximately 25 cm2 in area, accompanied by severe limb ischemia and heel osteomyelitis by MRI but no systemic inflammatory response syndrome (SIRS). Therefore, the DFUs of this patient were rated as diabetic foot W3 I3 fI2.\nFirst, the surgery of balloon dilation under local anesthesia was planned for this patient to revascularize her right superficial femoral artery and peroneal artery. Preoperative angiography confirmed long segment occlusion of the inferior segment of her right superficial femoral artery with segmentary severe stenosis (Figure 1B). Intraoperatively, the superficial femoral artery, popliteal artery, anterior tibial artery, and peroneal artery were successfully revascularized, but the posterior tibial artery was not successfully re-opened. Postoperative angiography showed that the vascular lumen of the superficial femoral artery, popliteal artery, anterior tibial artery, peroneal artery, and some arterial arches of the foot were unobstructed in the affected limb (Figure 1C). Subsequently, the patient was then allowed several weeks for the recovery of local blood supply to the wound, while the wound was periodically debrided and dressed in a small range. In the fourth week after surgery, the peroneal perforator flap was transferred and repaired under general anesthesia. Postoperative nursing was also very important. For postoperative nursing, we took the following measures: psychological counseling, keeping the non-weight-bearing state of the limb, keeping the limb warm, raising the limb, and closely observing the blood transport and the color change of the flap. In the 7th week, stitches were removed, and the flap was alive (Figure 2G). At the 12th week, the affected limb could be loaded with moderate weight bearing. In the 24th week, the patient was able to walk freely with this limb in which the flap appearance and texture were perfect.",
"gender": "Female"
}
] |
PMC10313132
|
[
{
"age": 63,
"case_id": "PMC7007016_01",
"case_text": "A 63-year-old female patient reported blisters on the face, neck, upper, and lower limbs, which exuded and evolved as hypochromias and sclerotic areas one year ago, with no therapeutic response to topical corticosteroid therapy and phototherapy (NBUVB).\nThere were exulcerations and hypochromic sclerotic plaques on the face, cervical region, upper, and lower limbs, as well as areas of frontal, temporal, and occipital alopecia (Figures 1 and 2). There was restriction on wrist movement and oral opening. She did not report Raynauld's phenomenon or dysphagia, and nailfold capillaroscopy was normal.\nThere was increase in hepatic enzymes (TGO 74 U/L - reference < 36 U/L, TGP 93 U/L - reference < 52 U/L), anemia (hemoglobin 10.8g/dL), and anti-HCV was positive. The other biochemical tests were normal, and anti-HIV was negative. The histopathological examination revealed upper dermis edema and thickened collagen bundles. The urinary porphyrin analysis was positive and there was reddish fluorescence in urine exposed to Wood's light (Figure 3).",
"gender": "Female"
}
] |
PMC7007016
|
[
{
"age": 56,
"case_id": "PMC5471581_01",
"case_text": "A 56-year-old Japanese man was referred to our hospital for investigation of tarry stool. The patient had been consuming lansoprazole, irsogladine, metoprolol, flutoprazepam, and ethyl loflazepate for gastritis, hypertension, and anxiety disorder but had no history of dyslipidemia or diabetes mellitus. A physical examination revealed no abnormalities in his abdomen or xanthomas on his skin, and laboratory findings showed no abnormalities. The levels of cholesterol, triglyceride, and plasma glucose were within normal range. Esophagogastroduodenoscopy showed erosive and atrophic gastritis.\nDuring colonoscopy, multiple yellowish spots measuring approximately 3 to 5 mm were observed in the rectum, in addition to hemorrhoids (Figure 1(a)). Magnifying observation with narrow-band imaging revealed that the pits of the rectal mucosa were intact (Figure 1(b)). Indigo-carmine spraying emphasized the whitish to yellowish color of the lesions (Figures 1(c) and 1(d)). Histological analysis of the biopsied samples revealed accumulation of xanthoma cells within the mucosal layer. Consequently, a diagnosis of rectal xanthoma was made.",
"gender": "Male"
},
{
"age": 78,
"case_id": "PMC5471581_02",
"case_text": "A 78-year-old Japanese man had been treated for remitting seronegative symmetrical synovitis with pitting edema. The patient underwent colonoscopy for screening purposes. He had been taking 2 mg/day of prednisone but had no history of dyslipidemia or diabetes mellitus. A physical examination revealed no xanthomas on his eyelid or extremities and a blood test revealed that his levels of cholesterol, triglyceride, and plasma glucose were within normal range.\nColonoscopy showed a whitish plaque of 4 mm in diameter in the rectum (Figure 2). Biopsy examination revealed massive deposition of xanthoma cells within the rectal mucosa (Figure 3), leading to the diagnosis of rectal xanthoma.",
"gender": "Male"
}
] |
PMC5471581
|
[
{
"age": 26,
"case_id": "PMC3761953_01",
"case_text": "A 26-years-old second gravida female reported at 37th week with antenatal ultrasound of the fetus showing well-defined and hyperechoic solid mass of size of 5.5 x 6 centimeters in the anterior aspect of neck [Figure 1]. Associated findings included mild polyhydromnios and vertical lie. Guarded prognosis with conservative management till the birth of the fetus was advised. Mode of the delivery was to be decided by obstetric indications. Finally, the baby was born by cesarean section and had huge cervical mass. Baby cried immediately after birth and had respiratory distress of mild nature apparent only in supine position when the compression effect was maximum. The distress was relieved in lateral position, and baby was maintaining saturation with minimal oxygen support.\nOn initial assessment, the vitals of the baby were stable. Examination of respiratory system revealed equal air entry on both the side with mild conducted sounds and inspiratory stridor. Rests of the systemic examinations were within normal limits. On local examination, there was a neck mass which was solitary, oval, of size about 9 x 5 x 6 cms in midline anteriorly having firm consistency with moderate mobility in all the directions [Figure 2]. Swelling was non-pulsatile, and there were no skin changes.\nInitial imaging was done by X-ray neck and ultrasound. These were stipulated calcifications within the mass as shown by X-ray. Ultrasound showed the mass to be consisting of solid matrix with occasional cystic areas filled with hemorrhagic fluid having freckles of calcifications and well-defined capsules all around with neck vessels pushed laterally and some degree of tracheal displacement suggestive of the teratoma with mass effect. Computed tomographic scan was obtained to further rule out the organ of origin, vascular involvement, and thoracic extension of the mass lesion. CT showed the mass to be of size 8 x 6 x 5 cms and heterogeneous with scattered, nodular calcification extending superiorly into sub-mandibular and inferiorly up to supraclavicular region [Figure 3]. Invasive investigations like fine needle biopsy were not attempted due to the fear of hemorrhage within the tumor leading to further aggravation of respiratory distress and complicating the pre-operative clinical scenario. Corroborative evidences of the mass to be teratoma were obtained by means of tumor marker studies like estimation of alpha-fetoprotein and beta human chorionic gonadotropins. Alpha-fetoprotein level was significantly high in the range of 83,000 ng/ml though there was no rise in beta HCG. As the neck teratomas mostly arise from and completely replace the thyroid tissue, thyroid function test was also obtained, but T3, T4, and thyroid-stimulating hormone levels were within normal range.\nAfter pre-operative stabilization and investigations, patient was taken up for the surgical excision of the mass. General anesthesia with endotracheal intubation was done though securing the airway was difficult. Transverse incision directly over the mass was given. Below the platysma muscles, the well-encapsulated mass was lying above the strap muscles of the neck, attached only with the fibrous bands and few small caliber vessels feeding the mass. Complete enucleation of the mass without capsule rupture was attained, and specimen was sent for histopathological examinations. No ventilatory support was needed in post-operative period. Feeds were allowed in 2nd post-operative day, and patient was discharged on 4th day. Repeat alpha-fetoprotein and beta HCG at the end of 1 month, 3 months, and 1 year were within normal range.\nHistopathology report came out as lobulated grey-white mass predominantly solid with areas of cystic changes. Cysts were ranging from 1 mm to 1 cm and filled with mucinous material. The solid parts consisted of cartilages and bony spicules. Multiple sections studied from tumor showed mature as well as immature elements derived from all 3 germ layers. Mature elements comprised of nests of squamous cells, glands, mature cartilage, occasional bony tissue, neural tissue, and smooth muscle tissue. Immature elements included neuroepithelial elements, occasional group of blastemal cells, and immature cartilage in myxoid stroma. Mitosis was in the range of 2/10 HPF. Normal thyroid tissue was not seen in the section studied. Final diagnosis was immature cervical teratoma; grade II.",
"gender": "Female"
}
] |
PMC3761953
|
[
{
"age": 23,
"case_id": "PMC10321783_01",
"case_text": "A 23-year-old man attended a private clinic complaining of an uncomfortable, slowly progressing mass on his tongue that impaired speech and swallowing and had been present for two weeks. During anamnesis, he mentioned that he used to smoke Cannabis sativa. He did not indicate comorbidities. He denied having a cough, runny nose, nasal congestion, or fever. The intraoral examination revealed a painless exophytic irregular dark red-violaceous nodular lesion in the tongue's right ventral and lateral border and a similar papule in the ipsilateral dorsal region surrounded by white plaques (Figure 1A).\nUnder the clinical hypotheses of Kaposi's sarcoma (KS) and COVID-19-related lesions, an incisional biopsy was performed. And a complete blood count and serology for Human Immunodeficiency Virus (HIV) 1 and 2, as well as a SARS-CoV-2 reverse-transcriptase-polymerase-chain-reaction test (RT-PCR test for COVID-19) were requested. Nasopharyngeal and oropharyngeal swabs were taken for RT-PCR test. None of the examinations showed abnormalities.\nMicroscopically, hyperparakeratosis, acanthosis, and papillomatosis in close association with large, dilated vessels lined by normal-appearing endothelial cells and containing inside erythrocytes and proteinaceous eosinophilic material were observed (Figure 1C-D).\nAn immunohistochemical panel was performed. Most vessels were CD34 positive; some were highlighted by alpha-SMA, whereas D2-40 was focal (Figure 2A-C). Human Herpes Virus 8 (HHV-8) was negative.\nBased on the clinical, microscopical, and immunohistochemical features, a definitive diagnosis of hemangiolymphangioma was obtained. The patient underwent minimally invasive surgical excision. After 18 months of follow-up, there were no signs of relapse (Figure 1B).\nAn electronic search was conducted in PubMed, Scopus, and Web of Science for studies published up to August 2022, with the following keywords: (\"hemangiolymphangioma\" OR \"lymphangiohemangioma\") AND (\"oral lesions\" OR \"mucosal lesions\"). Related articles were also searched in the reference lists of the found full-text articles. 16 full-text articles were evaluated, of which two were excluded because the lesions were in the parotid gland and neck, respectively. Table 1 summarizes cases reported in scientific journals. Eight were located on the tongue, being 3 cases reported by Jian.",
"gender": "Male"
}
] |
PMC10321783
|
[
{
"age": 29,
"case_id": "PMC10159324_01",
"case_text": "A 29-year-old man was referred to our hospital for MMD treatment. The patient had experienced transient left-sided hemiparesis when he was 11-years-old, and he was eventually diagnosed with MMD at 12 years of age. He was prescribed aspirin at a previous hospital. Sixteen years had passed uneventfully; however, at 28 years of age, he presented with a sudden headache. Computed tomography revealed right thalamic hemorrhage with ventricular hemorrhage [Figures 1a and b]. Digital subtraction angiography (DSA) showed MMD (Suzuki grade 4) development of the thalamic channel with hemorrhage in the ipsilateral hemisphere [Figures 1c-f]. We performed superficial temporal artery-to-middle cerebral artery (STA-MCA) bypass and encephalo-duromyo-arterio-pericranial synangiosis (EDMAPS) in the right hemisphere for the prevention of rebleeding. The postoperative course was uneventful. After 3 months, STA-MCA bypass and EDMAPS were performed in the left hemisphere. DSA performed 3 months after the last surgery showed patency of the direct bypass and development of transdural anastomosis due to the indirect bypass. In addition, a pseudoaneurysm was observed in the right posterior branch of the MMA [Figures 2a and b]. The pseudoaneurysm was located immediately under the edge of the craniotomy site [Figure 2c].\nFigure 2d demonstrated the intraoperative photo of STAMCA bypass and EDMAPS on ipsilateral hemisphere of pseudoaneurysm development. The arrow showed the location of pseudoaneurysm hereafter. The damage to MMA by craniotomy or dura cut may be a cause of aneurysm development.\nWe planned to perform the internal trapping under general anesthesia. After intravenous administration of 4000 U of heparin, the right external carotid artery was catheterized with a 4-Fr guiding sheath (ASAHI FUZBUKI, Asahi Intech, Japan). Subsequently, a distal access catheter (Guidepost, Tokai Medical Products, Japan) and microcatheter (Echelon-10, Medtronic, USA) were navigated into the right MMA. Microangiography of the posterior trunk of MMA revealed transdural anastomosis by indirect bypass [Figure 3a]. The aneurysm size was 4.2 mm x 3.9 mm and neck length was 1.1 mm [Figure 3b]. Fortunately, aneurysm neck was small against our expectations; as a result, we could embolized aneurysm tightly without MMA occlusion.\nThe microcatheter was navigated into the pseudoaneurysm, and the pseudoaneurysm was embolized using five platinum coils (Optima Coil System , BALT, USA) [Figure 3c]. Angiography after embolization showed complete occlusion of the pseudoaneurysm, patency of the MMA, and transdural anastomosis [Figure 3d]. The postoperative course was uneventful, and the patient was discharged without neurological deficits. Follow-up DSA performed 1 month after the endovascular treatment showed no recanalization of the pseudoaneurysm [Figures 3e and f].",
"gender": "Male"
}
] |
PMC10159324
|
[
{
"age": 80,
"case_id": "PMC9243420_01",
"case_text": "An 80-year-old, right-handed woman was referred to our hospital for a 3 year history of moderate amnesia and progressive difficulties in finding words and understanding conversations. She was a college graduate and had worked as a nurse until her mid-50 s. She was healthy except for bladder cancer surgery at the age of 60. At age 77, she demonstrated difficulty in finding words and diminished ability to recognize spoken words, which progressed in subsequent years. At age 78, in addition to the prominent aphasia, she demonstrated amnesia and slight behavioral change, such as compulsive washing of hands and dishes; however, they did not have a significant effect on her daily activities.\nOn admission to our hospital, she was alert and cooperative to the examination, but she was occasionally a little reluctant to, particularly memory tests. Sometimes, we had to repeat instructions because she could not understand the first time. However, she understood what should be done following repetitive instructions or written commands.\nFrontal signs such as disinhibition were occasionally observed, but they were relatively mild. Neurological examination did not reveal motor or sensory disturbance and parkinsonian symptoms. She exhibited bilateral palmomental reflexes but no grasp reflex. Her autonomic functions were well preserved.\nNeuropsychological assessments were performed between the second and 18th days of hospitalization. Some of her performance seemed to be affected by her impaired listening comprehension or non-serious attitude. For her best performance, clear and plain instructions were repeated until she could understand them. The results of the neuropsychological tests are presented in Table 1.\nTest scores on WAIS-III and Raven's Colored Progressive Matrices were nearly at the lower limit of normal performance. The Wechsler Memory Scale-Revised and Rey-Osterrieth Complex Figure Test indicated severely impaired visual memory. Apraxia, visual agnosia, and prosopagnosia were not observed.\nHer speech was fluent without distortion or agrammatism. She demonstrated difficulty in finding words and visual confrontation naming. Although auditory comprehension of sentences and words was impaired, they were due to the difficulty in phonological word processing. Written word comprehension was much better than spoken word comprehension. Results of the Western Aphasia Battery Japanese version revealed anomia, poor spoken word comprehension, and poor writing, but speech production was relatively well preserved. The scores on the repetition task were good, but phonological errors in words were observed. She could read kana (phonogram) and regular kanji (morphogram) words, but she frequently made mistakes when reading irregular kanji words, indicating surface dyslexia. In addition, she demonstrated difficulty writing kanji but not kana. These features in Japanese suggested impairment of semantic memory for words and were often observed in semantic dementia. On the standard tests in Japanese to examine naming and auditory comprehension of 100 high-frequency and 100 low-frequency words, she scored 31/200 on the naming task and 137/200 on the auditory comprehension task. We examined written comprehension for 61 of the 63 words that could not be understood on the auditory comprehension task. We excluded two words because we selected the word that she presented a two-way anomia. Accordingly, her written word comprehension was correct for 31 words (50%).\nTo evaluate her non-verbal semantic memory, we used the object decision task of the Birmingham Object Recognition Battery and an original semantic memory task, similar to the Pyramid and Palm Trees test. We used the original semantic task because some items in the Pyramid and Palm Trees test are unfamiliar to Japanese people. The results of these tests revealed that the patient also had non-verbal semantic memory impairment. Thus, the patient experienced prominent language deficits throughout the clinical course with verbal and non-verbal semantic memory impairment, which fulfilled the diagnostic criteria for svPPA.\nBy contrast, the patient demonstrated difficulty in repeating and dictating spoken words, which is not a common feature in svPPA. Listening errors were improved by the repetition of target words, and the ability to repeat long sentences was relatively preserved. Therefore, we hypothesized that impaired detection of each phoneme may affect her ability to comprehend and repeat spoken words. The context could also help estimate the words in long sentences.\nAccordingly, we performed a comprehensive examination of the higher auditory functions of the patient and conducted neuroradiological analyses to reveal the areas associated with the auditory symptoms.\nAuditory brainstem responses that were elicited with the standard protocol demonstrated normal waves. We used an adapted form of a standard clinical audiometry protocol in assessing frequencies of 500, 1,000, 2,000, and 4,000 Hz. The patient's pure-tone audiometry threshold was within the normal range for her age, with mean threshold values of 36.3 and 36.3 dB on the right and left, respectively.\nTo examine the higher auditory functions, we performed: (1) temporal auditory acuity and; (2) verbal sound discrimination and recognition. The results are presented in Table 2. Her ability to identify non-verbal sounds and nursery songs was also examined (Supplementary Table 1). We did not analyze these data in detail because several factors including word-finding impairment and semantic memory loss made further analyses difficult.\nClick counting and click fusion tests were also performed. In the click counting test, the patient was asked to count the number of clicks per second. She was able to count five clicks per second in each ear, which was lower than the 9-11 clicks per second detected by normal controls. In the click fusion test, click sounds were delivered to each ear at various intervals between binaural pulses. The patient was requested to report whether one or two clicks were made. She exhibited binaural fusion at an interval of 8 ms, which was worse than the several milliseconds detected by normal controls.\nIn Japanese, the ultimate minimum unit of a verbal phoneme sound is expressed as a \"mora.\" A mora was defined as one vowel or a unit of a consonant and a vowel, which corresponded to one kana letter. When measuring the speech recognition score in Japanese, the participants are requested to listen to a mora, a monosyllabic sound, produced verbally and to answer the corresponding kana letter by dictation. Because she was unable to write well enough, the test was performed by recitation. She recognizes 15/20 moras (75%) at 65 dB with the right ear and 16/20 moras (80%) at 65 dB with the left ear. The speech audiogram revealed significantly impaired speech recognition relative to the normal range advocated by the Japanese Audiological Society (Figure 1). Her maximum recognition score in a phonetically balanced word list of the right ear was 75% (15/20 moras) at 65 dB and that of the left ear was 80% (16/20 moras) at 65 dB. Thus, a higher volume was needed to increase the accuracy, and speech recognition accuracy did not exceed 80% in either ear even at the suprathreshold level. The two-mora discrimination tasks using 36 words and 36 non-words were performed. She discriminated 31 of 36 words (normal range; 35.82 +- 0.50) and 28 of 36 non-words (normal range; 35.14 +- 1.06), which was worse than normal controls. These results support the hypothesis that the patient's ability to recognize phonemes was impaired, and she used the context of sentences to estimate the words.\nThe MRI scans and 123I-iodoamphetamine single-photon emission computed tomography (123I-IMP-SPECT) were performed.\nEight days after admission, we performed an MRI of the brain using a 3-Tesla MAGNETOM Trio (Siemens Medical Solutions United States, Inc., PA, United States). Three-dimensional magnetization-prepared rapid acquisition with gradient echo (3D-MPRAGE) images demonstrated diffuse cerebral atrophy, which was especially marked in the anterior and medial parts of the left temporal lobe (Figure 2A).\nTo identify brain regions of the patient in which gray matter volumes were smaller than those in patients with typical svPPA, we performed VBM using statistical parametric mapping software (SPM), version 12 (http://www.fil.ion.ucl.ac.uk/spm/). Three-dimensional spoiled gradient echo or 3D-MPRAGE image data of 10 patients with typical svPPA as disease controls (mean age, 64 +- 8.0 years; 7 women and 3 men) were used for the analysis. The imaging parameters used for the acquisition of structural imaging data are presented in Supplementary Table 2. The disease controls were retrospectively recruited from the database for the study of dementing illnesses from June 2009 to April 2021 in Tohoku University Hospital and were diagnosed by board-certified neurologists based on the PPA criteria.\nThe protocol of the study was approved by the Ethics Committee of Tohoku University Hospital (approval nos. 2006-19, 2014-1-278, 2018-1-024, 2019-1-156, and 2020-1-285).\nA Z-score map of the present patient was created using the mean and standard deviation of the gray matter volume (normalized by the total intracranial volume) of each voxel in the disease controls and the following equation: Z-score = [(Control mean) - (Present patient's value)]/(control standard deviation). Significance was defined as a Z-score above 3.29 (alpha < 0.0005). The Z-score map is exhibited in Figure 2B. Compared with that of disease controls, in the present patient, gray matter volume was significantly smaller in the bilateral perisylvian areas, including the bilateral superior temporal gyri (STG), bilateral plana temporale (PT), bilateral Rolandic area and frontal inferior opercula, and left SMG.\nWe performed ROI-based analyses for gray matter volumes using the computational anatomy toolbox (CAT12, http://www.neuro.uni-jena.de/cat/) for SPM. The ROIs were defined based on the previous studies that have reported lesions that were associated with the manifestation of word deafness or auditory agnosia. These ROIs were as follows: (i) left and right STG; (ii) left and right PT; (iii) left and right Heschl's gyri; (iv) left and right angular gyri; and (v) left and right SMG. A Z-score of each ROI was calculated by the same equation as that used for creating the Z-score map. Significance was defined as a Z-score above 2.81 (alpha < 0.025/10). The results of the ROI-based analyses are presented in Supplementary Table 3. Compared with those of the disease controls, in the present patient, gray matter volumes were significantly smaller in the left STG (Z-score = 4.28), left PT (Z-score = 3.88), and bilateral SMG (left: Z-score = 4.21; right: Z-score = 3.35).\nTo assess the patterns of hypoperfusion, 123I-IMP-SPECT data were analyzed with three-dimensional stereotactic surface projections using the normal perfusion database for a Siemens e-cam. There was hypoperfusion from the temporal to the parietal lobes of the left hemisphere, with a more intense reduction from the anterior temporal lobe to the middle and inferior temporal gyri (Figure 2C).\nBeta-amyloid 1-42 (Abeta42) and phosphorylated tau protein (p-tau) in the patient's cerebrospinal fluid (CSF) were quantified on days 11 after admission. The patient's CSF Abeta42 level (1,023 pg/ml) was within the normal range, whereas the CSF p-tau level (68.3 pg/mL) was slightly elevated (reference value of <50 pg/ml).\nAt her last visit to the hospital (3 years after hospitalization scrutiny), she had developed marked aphasia with phonological mishearing and sentence comprehension disorder. She still understood the written word better than the spoken word, but her understanding of the written word was also greatly declined, due in part to her progressive semantic comprehension disorder. The effort of speech production was not increased, and prosodic articulation was intact. Although she could produce a meaningful speech, she talked about the same content with similar phrasing and only superficial. Behavioral disorders did not worsen, except for obsession with handwashing. She continued to do well physically, and her neurological examinations were unchanged.",
"gender": "Female"
}
] |
PMC9243420
|
[
{
"age": 47,
"case_id": "PMC4438634_01",
"case_text": "Gender and age: Male, 47 years old\nChief complaint: Left chest pain\nThe patient started working for a Korean-style barbecue restaurant from January 5, 2013. His primary duty was to ignite and manage the charcoal used for barbecuing meat at the restaurant. He worked 10 hours a day six days a week. On January 19, 2013, 14 days after he had started working, he suddenly collapsed and lost consciousness while on duty. The length of period for which he lost of consciousness is unknown; however, he was observed as alert and working approximately 30 to 40 minutes prior to the syncope. He regained consciousness without any medical treatment, and no medical attention was provided. However, he complained of a squeezing pain in his left chest for one hour after the initial episode; thereafter, he was brought to hospital via ambulance. Within one hour of arriving at the emergency room, he received cardiac angiography and was admitted to the hospital. Diagnosis at the time of admission was unstable angina and carbon monoxide poisoning. In the emergency room, his electrocardiogram was normal, and his systolic and diastolic blood pressures were 125 mmHg and 74 mmHg, respectively. He was discharged without any complications. On January 31, 2013, he filed a claim with the Korea Worker's Compensation and Welfare Service seeking compensation for the cardiac incidence that was believed to have been related to his work managing the charcoal at the restaurant. Before a decision regarding his claim could be made, the service requested an occupational epidemiological study from the Occupational Safety and Health Research Institute, and our hospital's occupational and environmental medicine department was given the task of creating the epidemiological report. After further investigation by our department, it was concluded that the patient had carbon monoxide induced cardiomyopathy after exposure to hazardous materials in his work place. The informed consent for epidemiologic investigation and case report is performed.\nIn August 2012, he had been diagnosed with nonspecific hypertension (Korean standard classification of diseases code I10.9) at Gangdong district health center, but we were unable to find his exact blood pressure measurement at the time of this diagnosis. The patient testified that he was not taking hypertension medication. His medical history was otherwise insignificant. Prior to January 2013, he had visited a local clinic intermittently seeking treatment for shoulder and back pain. According to his medical records until January 19, 2013, the patient had no remarkable family or social history and had never been exposed to any radiologic treatment. However, we were not able to confirm any of these records using the patient's annual medical check-up, which is managed by the National Health Insurance Service. He told the medical personnel at our hospital that he smokes 10-20 cigarettes per day, but his medical record from Samsung Medical Center showed a record of 20 pack-years. He also reported rarely consuming alcohol.\nAt the emergency room, his systolic and diastolic blood pressures were 125 mmHg and 74 mmHg, respectively, with a pulse rate of 65 beats per minute, a respiratory rate of 18 breaths per minute, and a body temperature of 36 C. Upon auscultation, a rale was heard in both lung fields. Otherwise, no abnormal findings were reported.\nThe results of the electrocardiogram taken at admission were normal. Table 1 lists the initial and follow-up concentrations of carboxyhemoglobin, methemoglobin, and hemoglobin oxygen saturation. The carboxyhemoglobin concentration at the emergency room was 35.8%, which is significantly higher than the normal level. In addition, the results of the cardiac enzyme tests are shown in Table 2. Troponin I, which typically indicates cardiac injury, was considerably elevated.\nA cardiac angiogram was performed within one hour of admission to the emergency room. In the right coronary artery, a 40% obstruction and thrombotic plaque were found, but the other three branches of the coronary artery appeared normal.\nA cardiac contrast ventriculography was performed, and the myocardium and cardiac output were found to be functioning normally.\nInitially, the patient's systolic and diastolic blood pressures were 125 mmHg and 74 mmHg, respectively. His pulse and respiratory rates were 65 beats per minute and 18 breaths per minute, respectively, and he had an oxygen saturation of 98% at room temperature. He was given emergency therapy with a sublingual nitroglycerine. After taking the medication, the only response was a sudden drop in his systolic and diastolic blood pressures to 83 mmHg and 53 mmHg, respectively. To counter this low blood pressure, 500 mL of normal saline was infused intravenously, and after confirming the stabilization of his vital signs, the patient underwent an emergency angiocardiogram. He was admitted to the intensive care unit for close observation immediately after the procedure. An angiotensin converting enzyme inhibitor (Losartan ) and aspirin were prescribed, and his systolic and diastolic blood pressures remained level at approximately 135 mmHg and 80 mmHg, respectively. He was discharged from the hospital on January 22, 2013, four days after his first visit to the emergency department.\nAfter discharge, he did not return to his previous vocation. He visited our outpatient clinic on January 31, 2013, 14 days after the initial attack. At that time, his systolic and diastolic blood pressures were 116 mmHg and 79 mmHg, respectively, and he reported no longer suffering from chest pain or other cardiac symptoms. The angiotensin converting enzyme inhibitor and aspirin were prescribed for continuous use. His last visit was on February 21, 2013 to obtain a copy of his medical record. At the last visit, no chest pain was present, and his systolic and diastolic blood pressures were 143 mmHg and 100 mmHg, respectively.",
"gender": "Male"
},
{
"age": 46,
"case_id": "PMC4438634_02",
"case_text": "According to this patient's insurance employment records, his first full-time recorded job was at a Korean barbecue grill restaurant. He started working there on January 5, 2013 (at 46 years old), and prior to this full-time employment, he worked as a part time employee from June 2, 2012 to August 1, 2012 cleaning tables and washing dishes.\nAt Korean barbecue grill restaurant, he worked at the charcoal recycler (Figure 1), which was located outside of the restaurant, and his job was to ignite fresh charcoal or revive the flames of burning charcoal to be placed on customers' tables in the restaurant. His informal duties included washing charred material from gridirons and moving stacks of charcoal for storage. He washed used gridirons once or twice a day, usually in the morning or late at night. His job was also to remove large deposits of soot, first using a device called a 'grand', and then using a metallic brush to scrape off any charred materials and minor soot from the gridiron. He performed these tasks outside of the restaurant. It is unknown whether the patient also used chemical agents while cleaning. An exhaust duct is fitted above the recycler. Smoke from the fire at the charcoal recycler is cleared by natural air ventilation, and no additional circulation is provided to ventilate the unwanted smoke.\nHe worked for six days a week, from 10 AM to 10 PM. He was given an hour and a half lunch break. The quantity of charcoal he managed each day and the amount of his daily workload depended on the number of patrons who visited the restaurant that day. When the restaurant was not busy, he had anywhere between several minutes to one hour of break time throughout his day, and he usually rested next to the charcoal recycler. The estimated amount of charcoal used per day was three to four boxes (6-10 kg). We requested an estimate of the number of customers and daily sales figures from the business owner in an attempt to estimate the quantity of charcoal used per day. However, even with this information, the amount of charcoal handled by the patient or used at a table in this restaurant is difficult to estimate because it can vary greatly for each table. Charcoal is provided at customer's request or after a further order of meat.\nThe steps to operating the charcoal recycler, which was used by the patient, are as follows. There is on and off button on the bottom of the recycler. After turning on the recycler, the appropriate amount of fresh charcoal for single use is loaded into the charcoal bowl and moved from the bowl to the grid pan. Then, the pan is placed below the ventilation duct in the center of the recycler. With aeration, a flame is applied to start a fire in the charcoal. The flaming charcoal is then placed in a bowl, and the bowl is then placed just under the duct for more aeration. When the charcoal becomes hot enough for grilling, the burning charcoal is moved to another metal container for the use at a customer's table. The whole procedure takes 30 to 40 seconds.",
"gender": "Male"
}
] |
PMC4438634
|
[
{
"age": 46,
"case_id": "PMC5771871_01",
"case_text": "A 46-year-old male farmer, presented with a history of multiple, recurrent discharging scrotal ulcers over a period of three (3) years. He had had multiple wound debridements and dressings done, but the ulcers had recurred a few months after complete healing. The discharging wounds occurred after the formation and subsequent rupture of pustules.\nHe was otherwise healthy with no constitutional symptoms, significant comorbidities, and no previous history or contact history of TB. He had received the BCG vaccination during infancy. He was an averagely built male with normal general and systemic examination. Genitourinary examination revealed bilateral craggy, hard epididymes, an enlarged and tender right testis, and multiple, superficial, noninfected scrotal ulcers (Fig. 1A and B).\nUltrasonography showed bilateral normal-sized testes. The right epididymis was enlarged and thickened with a 1.4 x 1 cm sized hypoechoic lesion in relation to the head of the right epididymis and a 2 cm x 1.8 cm sized hypoechoic lesion in relation to the lower pole of the right testis. Internal vascularity was noted. The right testis was not identified separately from the lesion. Furthermore, there was a 1.3 x 0.8 cm sized hypoechoic lesion in the left testis and a 0.7 x 0.6 cm sized hypoechoic lesion in relation to the left epididymis.\nHis complete blood count and chest radiograph were normal. Erythrocyte sedimentation rate (ESR) was 90 mm/h, and the Mantoux was strongly positive with a diameter of 20 mm after 72 h. The urine full report (UFR) showed a field full of pus cells, and routine bacterial cultures were negative.\nHe underwent surgical exploration where the right epididymis was noted to be enlarged, irregular, and thickened with mild enlargement of the right testis with an irregular surface lesion, favoring chronic epididymo-orchitis (Fig. 2A and B). A right epididymal and testicular biopsy was performed, and histology revealed evidence of granulomatous inflammation with central caseous necrosis favoring mycobacterial TB infection. There was no evidence of intratubular germ cell neoplasia or malignancy. The Ziehl-Neelsen stain was negative for acid-fast bacilli. Pus from the scrotal discharge, the biopsy specimen, and the urine sent for TB culture returned negative.\nHe was started on category 1 antituberculosis therapy, that is, quadruple antimicrobial therapy for 2 months followed by dual therapy with rifampicin and isoniazid for 4 months, for which there was a good response with healing of the scrotal ulcers. He was compliant, and no significant adverse effects of treatment were noted. However, three (3) months into therapy, he presented with worsening lower urinary tract symptoms, strangury, and acute urinary retention. He required suprapubic catheterization, and subsequent retrograde urethrography revealed a bulbar urethral stricture for which he is under urological care.",
"gender": "Male"
}
] |
PMC5771871
|
[
{
"age": 16,
"case_id": "PMC4475344_01",
"case_text": "A 16-year-old female volleyball player was diving for a ball when she hit the right side of her head on the floor. There were no transient neurological symptoms or cervical or occipital pain. The next morning, she awoke with severe headache at the back of her head. A Sports Concussion Assessment Test (SCAT) only revealed one symptom (headache). Neuropsychological computerized testing demonstrated excellent performance in all categories; however immediately thereafter, the patient developed severe headache and nausea. At 12 d after the injury, the patient was reassessed and reported a headache with severity of 1 out of 6 localized at the right posterior aspect of her head as her only symptom. Physical examination demonstrated decreased range of motion and tenderness throughout the cervical spine, most prominently at the right greater than left occiput with reproduction of her headache upon palpation. Trigger point injections with 1% lidocaine were performed at eight locations over the bilateral superior trapezius and achieved 50% reduction of her headache for 2 h. This prompted a referral to an interventional anesthesiologist for a diagnostic block of the right greater occipital nerve (GON) and lesser occipital nerve (LON), after which the patient expressed complete relief of all symptoms for 6 h. The patient then was prescribed a multimodal approach to symptom management, including massage therapy, myofascial release, and a right-sided pulsed radiofrequency stimulation of the GON and LON. The patient achieved temporary resolution of her headaches shortly following this last procedure at 166 d after the concussion. While her headaches significantly improved at rest and without rotational movement, any rotational movement during exertion creates headaches that impede participation in sports. Thus the patient has decided to voluntarily retire from volleyball.",
"gender": "Female"
},
{
"age": 28,
"case_id": "PMC4475344_02",
"case_text": "A 28-year-old professional baseball player sustained a concussion from a collision at home plate. The patient complained of anterograde amnesia and feeling significantmental fogginess. After essentially maintaining bed rest for 2 d, he experienced severe cervical pain and a bout of emesis during ambulation. Subsequent computed tomography (CT) imaging of the cervical spine was normal. On examination, his cervical range of motion was limited to the left more than the right and his neck pain and limited range of motion gradually resolved over 2 months. Despite this, he was unable to resume any physical activity due to the development of a severe sharp, stabbing, and throbbing headache located in the left occiput. Triggers included the resumption of any athletic activity, but he found that he could avoid triggering headaches by looking straight ahead. A follow-up physical examination was significant for tenderness in the left occiput at the craniocervical junction. He was diagnosed with ON and was referred to interventional pain management for a left cervical medial branch block of C2 to C3 and third occipital nerve (TON) blocks. These procedures provided 100% pain relief and greatly increased cervical range of motion. He was then able to complete a graded return to play protocol successfully and resumed baseball.",
"gender": "Male"
},
{
"age": 17,
"case_id": "PMC4475344_03",
"case_text": "A 17-year-old female soccer player was hit in her forehead during a challenged header and experienced immediate symptoms, most prominently including headache, fogginess, dizziness, and photophobia. No neck pain was noted on the initial physical examination. Her initial SCAT2 symptom number was 17 (which included headache) with a symptom severity score of 67. Several trials of medications including acetaminophen, ibuprofen, amitriptyline, and zonisamide failed to reduce her headache symptoms. Five weeks after the concussion, she developed neck pain, and on repeat examination, she had a positive Tinel sign at the left craniocervical junction with significant worsening of her headache. She was referred to interventional pain management for a GON and LON block. During a phone follow-up, she reported 100% relief of her headache and neck pain for 3 d and noted significant improvement of her other concussion symptoms as well. She then received a pulsed radiofrequency stimulation of the left GON and LON, which resulted in 50% relief from her headache and neck pain for 3 wk. Due to the partial and short duration of the effect, a nerve block was then performed on the C2 and C3 medial branches and TON. The patient received 100% relief of her headache and neck pain for 5 d, again with concomitant improvement of her other symptoms. Given this response, a radiofrequency denervation of these same nerves was performed. She received complete relief of her headache and neck pain with a SCAT2 symptom number of 3 with a symptom severity score of 10. After return of her symptoms in 4 months, the procedure was repeated with the same results. She continues to work with physical therapy and speech and language pathology to address her remaining lingering symptoms.",
"gender": "Female"
}
] |
PMC4475344
|
[
{
"age": 69,
"case_id": "PMC6679641_01",
"case_text": "A 69-year-old woman was admitted to hospital in November 9, 2007 with acute exacerbation of chronic cough and dysphagia with solids and liquids for 2 weeks. She did not have hemoptysis, fever, chills, chest pain, or weight loss. When she was 9 years old, she had worked as a stone crusher for 3 years and was exposed to a large amount of quartz dust for not using any respiratory protective equipment. In 1969, she was diagnosed with silicosis and tuberculosis. She was treated for tuberculosis and was stable. She had no further exposure to dust or other toxic substances, thereafter. On follow-up, her condition had no change. The patient was a life-long nonsmoker and consumed no alcohol. Nor did she receive any medications. \n On physical examination, the patient looked well, with no palpable peripheral lymph nodes. Occasional wheezing was heard on both lung fields. Laboratory data, including blood tests and serum electrolytes, liver enzymes, and bilirubin, as well as renal function were normal. Skin test for tuberculosis was negative. Three consecutive samples of sputum were negative for acid-fast bacilli by staining and culture. Chest x-ray and computed tomography (CT) of the chest demonstrated eggshell calcification of the hilar and mediastinal lymph nodes in the paratracheal, subcarinal, and aorticopulmonary window regions. Bilateral multiple pulmonary nodules were also visible. The lower lobe of the left lung showed a ground-glass, dense shadow. Barium esophagography revealed two fistulas between the middle esophagus and the left main bronchus, immediately tracking into the left bronchial tree (Fig 1). The diagnosis was silicosis with esophagobronchial fistula and aspiration pneumonitis. The patient received antibiotics. An esophageal stent was placed on December 14, 2007. The symptoms improved. \n The symptoms however recurred within three days. Gastroesophageal endoscopy demonstrated a small ulcerated lesion above the metallic stent, with a small diverticulum 18 cm from the upper incisor; the esophageal mucosa was inflamed and friable. Biopsy revealed chronic inflammation and an ulcer without granulomas, malignancy, or organisms (Fig 2). Another esophageal stent was placed on December 20, 2007. The symptoms improved and the patient was discharged from hospital. \n After two months, the patient was admitted to another hospital because of severe cough exacerbated by swallowing liquids and solid foods. Gastroesophageal endoscopy revealed a new small mid-esophageal ulcer. Other examinations, including tests for tumor markers, were normal. A tuberculin skin test gave negative results. Over the next few days, the patient reported expectoration of small grayish coral-like calculi with a stony consistency, measuring 5-10 mm in diameter, as well as episodes of coughing. Bronchoscopic examination showed a free broncholithiasis in the left main bronchus, mucosal thickening, and stenosis with no significant airway obstruction of the main bronchus. The broncholithiasis was extracted with no bleeding. Biopsy of the bronchus revealed chronic inflammation, with no evidence of malignant tumor cells or granulomas. Sputum and bronchoalveolar lavage analyses did not reveal Mycobacterium tuberculosis, fungi, or malignant cells. The diagnosis was silicosis with broncholithiasis and esophagobronchial fistula. \n The patient continued to have frequent complications and persistent fistula probably related to stasis in the esophagus. Because of her frail condition, we decided to initiate a conservative operative approach and inserted a gastrostomy tube. \n Two samples of the expectorated materials were analyzed by electron microscopy and energy-dispersive spectrometry (EDS), with a Phenom ProX system (Phenom-world Co, the Netherlands), operating at 15 kV. Without any coating on the sample, with SDD high resolution and a high-sensitivity EDS detector, semiquantitative chemical analyses were performed. Mineralogy analysis revealed the broncholithiasis was composed of calcium and phosphate, with no crystals of silica or silicate (Fig 3). \n After 16 months, in June 2009, the patient was readmitted because of cough, sputum, dyspnea, fever, and night sweating for 10 days. The admission laboratory data included a white blood cell count of 6.65x103/muL (reference range 4.0-10.0x103/muL), hemoglobin level of 11.4 g/dL (11.0-15.0 g/dL), high-sensitivity C-reactive protein level of 26.38 mg/L (0-3 mg/L), serum albumin level of 4.32 g/dL (35-55 g/dL), serum protein level 7.0 g/dL, erythrocyte sedimentation rate 34.9 mm/h (0-20 mm/h). A skin test for purified protein derivative (5 TU) was strongly positive, with an induration of 25 mm with ulceration. The concentrated sputum test result was positive. The diagnosis was silicotuberculosis relapse. CT revealed an esophageal stent shadow, esophageal wall thickening, multiple small nodule spots, patchy shadows, and mediastinal and lung door multiple calcified lymph nodes (Fig 4). Antituberculous treatment with 450 mg rifapentine, twice a week, 300 mg inhaled isoniazid, once a day, and 750 mg pyrazinamide, once a day, was started. After nine months of antituberculous treatment, the patient did well. We continued to follow the patient until the time we wrote this report; she had no change (Fig 4).",
"gender": "Female"
}
] |
PMC6679641
|
[
{
"age": 0,
"case_id": "PMC7336922_01",
"case_text": "The patient was an 18-days-old Iranian neonate girl with current weight of 3600 g referred to the Bahar hospital with symptoms of respiratory distress, cyanosis, fever and cough. The neonate was born by cesarean delivery on February 10, 2020 in Khatam hospital with birth weight of 3020g. The newborn had no medical history, except for neonatal icterus and two-day phototherapy in the Khatam hospital (10-12 February, 2020).\nThe neonate had nasal congestion, cough and wheezing on February 26, 2020 and was admitted to the isolated room of the NICU ward at Bahar hospital due to the progression of symptoms towards worse cough, lethargy, respiratory distress, fever, cyanosis, respiratory rate more than 65 times per minute and impaired breastfeeding; The initial diagnosis of pneumonia was made on February 28. The results of the patient's initial tests are shown in Table 1. In addition, blood type and O2 saturation were O + and 74 % respectively.\nThe chest x-ray (Fig. 1A) and HRCT-Scan without contrast (Fig. 1B) were performed from the infant's chest on 29 February 2020. Consolidation with air bronchograms were seen in medial segments of the upper and middle lobes of the right lung and the lingula region. There was no evidence of pleural effusion or mediastinal lymphadenopathy. Due to the patient's chest X-ray and CT scan and the ongoing epidemic of COVID-19, the infant was referred to the ICU of the specialized COVID-19 hospital of Shahroud on 01-March and was admitted to an isolation room. Careful monitoring of vital signs, blood oxygen saturation, blood glucose and necessary supportive measures were performed. According to the pediatrician sub-specialist's prescription and considering the possibility of late bacterial pneumonia, the intravenous vancomycin 36 mg (q8 hr) (30 mg/kg/day) and cefotaxime 180 mg (q12 hr) (100 mg/kg/day) were prescribed from the first day until discharge, also the soluble Oseltamivir capsule and Hydroxychloroquine tablet were prescribed 20 mg (daily) (5.5 mg/kg/day); Cardiac monitoring was performed in the ICU while taking Hydroxychloroquine, and no significant signs were noted like Q-T prolongation. Furthermore, the oxygen therapy was performed by the oxy-hood. The RT-PCR for SARS CoV-2 of throat swab specimen was negative on 29 February 2020.\nLaboratory tests of the fourth day (2 March, 2020) showed in Table 1. The blood culture was negative after 48 h of bacterial growth (Staphylococcus aureus and Streptococcus pneumonia and other common microorganisms), but no tests were performed to detect the flu and other viruses.\nAfter admission and starting the treatment, the neonate's fever was abated and repeat chest CT-Scan show there was a lower alveolar consolidation on the sixth day of hospitalization (March 4, 2020), but there was still consolidation in the middle lobe of the right lung (Fig. 1C). The neonate was without fever for more than 4 days; and clinical symptoms and chest radiographic findings indicated the improved respiratory and vital status. On day 7th of hospitalization, the newborn was discharged from hospital with prescription of oral azithromycin syrup 100 mg (1.5cc daily) and oral ranitidine syrup 75 mg (0.5 cc twice a day). The patient was hospitalized with an initial diagnosis of pneumonia. Due to the patient's condition, along with the viral causes of pneumonia such as coronavirus and typical bacterial causes, atypical factors were also considered. Therefore, azithromycin was added to the treatment.",
"gender": "Female"
},
{
"age": 3,
"case_id": "PMC7336922_02",
"case_text": "The result of a second pharyngeal swab on March 12 was positive for SARS CoV-2. According to the medical history, the 3-years- old sister and 34-years-old father had mild cold symptoms with fever, cough and lethargy on February 23, 2020 and were under outpatient treatment without hospitalization. They had close contact with a person with symptoms of fever, cough and lethargy 1 week after the birth of the baby (17/02/20) and then have not had any contact with other person except their family. The nasopharynx swab test was performed on neonate's sister, and the nasopharynx and nasal swab test on parents on March 18 and the results of all family tests were negative.\nIn our study, the identified case or cases of the disease in contact with this patient and even his family were not identified. We know that many patients are asymptomatic, and the strong hypothesis is that the patient also received the disease from asymptomatic individuals.",
"gender": "Male"
}
] |
PMC7336922
|
[
{
"age": 35,
"case_id": "PMC10272408_01",
"case_text": "We conducted a retrospective analysis of the medical records of a 35-year-old Caucasian woman who presented with severe AFVI-induced bleeding and subsequent immunosuppressive therapy. The publication of this report was approved by the ethics committee of the South Pest Central Hospital/National Institute of Hematology and Infectious Diseases, and the patient provided written informed consent.\nData were collected from the patient's medical records, including laboratory test results, imaging studies, surgical reports, and medication administration records. The patient's clinical course was tracked from the initial admission to our department on 21st February 2014, to the present day. Descriptive statistics were used to analyze the patient's clinical data, including laboratory test results and medication regimens. The time course of changes in coagulation parameters, including FV activity, was depicted graphically. The response to therapy was assessed by monitoring the patient's bleeding symptoms, laboratory test results, and adverse events.\nLimitations of this retrospective analysis include the potential for missing or incomplete data and the inability to establish causality between the patient's clinical course and the treatments administered. Furthermore, this case report describes the experience of a single patient and may not be generalizable to other patients with similar conditions.",
"gender": "Female"
}
] |
PMC10272408
|
[
{
"age": 0,
"case_id": "PMC3012841_01",
"case_text": "A 32-month-old boy was admitted to our hospital with two days of irritability and fever. He was born with a birth weight of 2.9 kg by normal spontaneous vaginal delivery at 40 weeks gestation to a healthy 28-yr-old G3P2 mother. His delivery was non-eventful, but there was flexion deformity of both his middle fingers, so he was transferred to our hospital and underwent many diagnostic tests and physical therapies in January, 2002. He showed mild general hypotonia in that his cry was weak, and he sucked poorly during early infancy. He had epileptic seizures 6 times since the age of 15 months despite taking anti-epileptic medications. A diagnosis of mental retardation complicated by epilepsy was made, and his development was noted to be markedly delayed. He raised his head at age 7 months, sat up at 26 months, and had not yet acquired the ability to stand. He had a flat and mid-hypoplastic face with prognathism, narrow and upward slanting palpebral fissures with hypertelorism, low-set ears, a small crashed nose, widely spaced incisors, carp-like mouth, and round back (Fig. 1). He demonstrated repeated stereotyped behavior like hitting his chin with his palm; this behavior was often associated with emotional outbursts.\nSoon after admission, a generalized tonic-clonic type seizure was started and lasted approximately one hour; at that time his vital signs were as follows: blood pressure 100/60 mmHg, pulse rate 138 bpm, respiration rate 32 bpm, and body temperature 38.5C. Mild throat injection was seen, but other systemic examinations were normal. On neurologic exam, mental status was alert, all cranial nerve exams were normal, and muscle tone in both extremities were decreased to grade IV/IV bilaterally but all deep tendon reflexes were physiologic. There was no spasticity or pathologic reflex. Sensory functions were normal and meningeal irritation signs were absent.\nInitial laboratory investigations revealed: hemoglobin 12.7g/dL, platelet count 374,000/microL and white blood cell count 11,780/microL. The C-reactive protein was slightly elevated at 19.0 mg/dL on the day of admission and returned to normal 3 days later. Urinalysis was normal. All microbiologic studies were negative. A sleep electroencephalogram revealed intermittent high-amplitude slow wave discharges from the temporo-occipital area, representing mild cerebral dysfunction. On radiologic evaluation, spine radiography revealed mild scoliosis. An echocardiogram was normal.\nThe characteristic facial features and mental retardation of the patient led us to consider ATR-X syndrome; thus, peripheral RBCs were screened for hemoglobin H (HbH) inclusion bodies. HbH inclusions were detected under the microscope in 1.1% of brilliant cresyl blue stained RBCs, consistent with the diagnosis of ATR-X syndrome (Fig. 2). The patient's father, mother and two sisters were all given the same test; only his mother and eldest sister had the same findings. We performed gene analysis to confirm the diagnosis of ATR-X syndrome. Genomic DNA from the peripheral blood of our patient and his 4 family members was extracted with the Wizard Genomic DNA Purification Kit (Promega, Madison, WI, USA) and used as a template for amplification of the ATRX gene. Polymerase chain reaction (PCR) was separated into three parts and carried out with sequence-specific oligonucleotide primers containing 20 known major mutation sites (Table 1, Figs. 3, 4). PCR amplification using each primer was conducted with premixture kit (PreMix -Top, Bioneer Inc., Seoul, Korea). Cycling conditions were one cycle at 95C for 5 min, followed by 35 cycles of 95C for 30 sec, at an annealing temperature adjusted to each primer's (Tm) for 30 sec, 72C for 30 sec, followed by one cycle at 72C for 7 min. For direct sequencing, the PCR products were purified using a PCR clean-up system offered by Promega. DNA sequencing was performed using the purified PCR products as template, the same primers as those used for template generation, the BigDye terminator cycle sequencing ready reaction kit (Applied Biosystems, Foster City, CA, USA), and automatic sequencer ABI Prism 3730 XL DNA Analyzer (Applied Biosystems, Foster City, CA, USA). Sequence data were assembled and compared to that of a previously reported ATRX sequence from accession number Z84487 using the DNAstar software (DNASTAR Inc., Madison, WI, USA).\nMutation analysis for our patient showed a point mutation on the 9th exon in the ATRX gene of thymine to cytosine so that Trp(C), the 220th amino acid, was replaced by Ser(R) (Fig. 5). This missense mutation was reported by Gibbons in 1997. We investigated the same mutation in his 4 family members, and his mother and two sisters were found to be carriers.",
"gender": "Male"
}
] |
PMC3012841
|
[
{
"age": 20,
"case_id": "PMC8076759_01",
"case_text": "A 20-year-old female with a prior history of mild intermittent asthma and atopic dermatitis was admitted to the hospital following rapidly progressing acute psychosis. She had been diagnosed with COVID-19 infection by polymerase chain reaction (PCR) testing one month prior after exposure to a roommate who tested positive after developing respiratory symptoms. Her only symptom at time of diagnosis was fatigue which resolved by hospital presentation. At baseline, the patient was a high functioning college student with no history of mental illness. Approximately 2 weeks after her COVID-19 diagnosis, she developed insomnia and panic attacks, which progressed over a span of two weeks to acute psychosis manifested by anxiety, agitation, forgetfulness, disorganized thoughts, paranoia, flight of ideas, insomnia and visual hallucinations of her recently decreased grandmother. She was initially prescribed quetiapine, but due to progression of psychosis, she was admitted for further diagnostic workup.\nBased on the hospital policy regarding admission testing for COVID-19, a nasopharyngeal swab was obtained and tested by PCR, and was noted to be positive. Computed tomography of the head without contrast and magnetic resonance imaging of brain did not demonstrate any abnormalities. Continuous electroencephalogram was normal, and both urine drug screen and blood alcohol test were negative. Acetaminophen, salicylate and heavy metals toxicities were excluded. Cerebrospinal fluid (CSF) protein, glucose and cellular counts were normal. A meningitis/encephalitis panel (Biofire), which included numerous bacterial and viral targets, was negative. Additional workup including serum human immunodeficiency virus (HIV) antigen/antibody and treponema pallidum antibody was also negative. Routine laboratory tests including complete blood count (CBC), erythrocyte sedimentation rate, C-reactive protein, creatinine kinase, thyroid stimulating hormone, folic acid and vitamin B12 were within normal ranges. CSF encephalopathy panels were completed, and the results did not suggest autoimmune encephalopathy as an underlying cause for this patient's acute psychosis.\nAfter discussion with the microbiology lab, COVID-19 PCR testing was performed on the patient's CSF sample. Though this test is non-FDA approved, multiple reports in the literature showed that the COVID-19 PCR testing on CSF samples has been performed and was positive in some cases. Our patient's CSF sample was negative for COVID-19.\nThe psychiatry team were consulted, and after assessing the patient's past medical history, clinical manifestations and laboratory findings, the patient was diagnosed with hyperactive catatonia. She was started on high-dose lorazepam, with the intention to taper off the dose in the outpatient settings.",
"gender": "Female"
}
] |
PMC8076759
|
[
{
"age": 28,
"case_id": "PMC6344176_01",
"case_text": "A 28-year-old female, with history of 2 cesarean sections 8 years ago and 2 years ago, was admitted into the emergency department for a 7-day ongoing gross hematuria with clots. Full blood count analysis on admission revealed a hemoglobin of 62.0 g/L. Then two units of red blood cells 200 ml plasma were infused to observe the condition continually while defining diagnoses and determining the treatment plan. A brief cystoscopy reported from the previous hospital showed a tumor approximately 2*3*4 cm in size near the bladder neck at 11 o'clock (lithotomy position). A computed tomography (CT) scan of the abdomen and pelvis showed a mass near the bladder neck and massive blood clots in the bladder (Fig. 1). Aiming to wait for hematuria to be controlled and then re-cystoscopy before we can perform the treatment, we consulted the interventional department for bladder tumor vascular embolization (Surgery related images shown in Fig. 2) in the hope of controlling bleeding. Nevertheless, her hemoglobin reduced to 39 g/L due to continuous hematuria prompting transfusion of 3 units of packed red blood cells and 400 ml plasma urgently the next morning. Consequently, the patient underwent an emergency transurethral resection of the bladder tumor (TURBT), demonstrating a lot of clots and a solid tumor of about 4 cm near the bladder neck. Once again, 2 units of red blood cells were injected and we gave other symptomatic supportive treatment after surgery to improve the general condition of the patient. To elaborate the change of hemoglobin in patient more intuitively, we specially created a line chart (Fig. 3). Finally, the patient's condition improved and she was discharged smoothly.\nPostoperative pathological results show that it is bladder myofibroblastic tumor with muscle layer infiltration, finding tumors in the basement (Fig. 4). The results of immunohistochemistry examination showed: SMA (+), ALK (+), Demsin (-); CK (-), with about 20% the tumor cells as Ki-67 positive (Fig.5). Three months after surgery, computed tomography and cystoscopy were reviewed without signs of recurrence and no symptoms such as dysuria appeared in patient.",
"gender": "Female"
}
] |
PMC6344176
|
[
{
"age": 50,
"case_id": "PMC6313968_01",
"case_text": "We report a case of a 50-year-old woman, normal weight and length (49 kg, 164 cm), known to have HIV for the previous 6 years and who was recently started on ART (2 weeks ago). No report was found of the patient taking any HIV therapy in the past. The ART started was abacavir-lamivudine, respectively, 600mg and 300 mg once daily in combination with darunavir 400mg twice daily. Further medical history consists of depression and anxiety, migraines, gastroesophageal reflux disease, and no known use of illicit drugs. She was admitted in the Intensive Care Unit (ICU) after being apathetic, lethargic, and having a painful cold cyanotic right hand for 4 days. The day of hospitalization she was found very drowsy on the floor by her partner who called the health emergency services immediately. Earlier that week a general practitioner was consulted concerning the painful hand. He suggested this was due to lateral epicondylitis and treated her with NSAID's.\nIn hospital on admission physical examination revealed a woman with a Glasgow Coma Scale of 13/15, conscious but sleepy, oriented, slow speech, and grossly intact cranial nerves. On examination she had cyanotic cold toes on the right foot and a cyanotic right hand extending to the wrist and no pulsations were felt on all 4 limbs (no sign of edema). The patient had a blood pressure of 140/70 mmHg on the left arm and heart rate of 80 beats/min. On auscultation no irregularities were found and the SpO2 indicated 99%. Examination revealed no abdominal abnormalities, but auscultation showed hyperactive bowel sounds. There were no signs of a fever and the urine output was normal. On admission the SAPS score was 40, APACHE-II score 12, MODScore 6, and SOFA score 4; thus the mortality prediction by the SAPS-II score was 24.7%.\nA central venous catheter was inserted at the Emergency Department due to failed attempts of placing a peripheral canula. Complete blood cell count showed a white blood count of 11.5 x 109/L and no further abnormalities (see supplementary information nr 1). The serum biochemistry showed a CRP of 24 mg/dl, CK 2285U/L, normal renal function with a of sodium of 121 mEq/L and chloride 87 mEq/L. Lactate was 0.7 mmol/L and troponins were negative with two consecutive blood samples. Toxicology screening, including ethanol, were also negative. Coagulation showed normal PT and APTT but D-dimers were raised to 2.2 mg/L (reference normally < 0.5). HIV viral load showed 42 copies/mL and CD4 count was 380 cells per cubic millimeter of blood.\nBecause of the altered consciousness and lethargy a CT scan of the head was done. This showed no acute intracranial abnormality. During the following days the patient deteriorated and showed increasing unconsciousness and ischemic limbs. Platelet and coagulation disorders were excluded and the lumbar puncture showed no abnormalities. On the 3th day of admission, due to quickly lowering Glasgow coma scale, the patient needed intubation. At the same day a CT angiography of the aorta and lower limbs was done to find a cause for the increasingly cyanotic limbs. Findings included (i) multiple renal infarctions, (ii) narrowing of the external iliac arteries, and (iii) bilateral narrowed femoral-popliteal arteries with multitudinous stenosis or occlusions. The radiologists had difficulties to differentiate between thrombogenic pathology, medically induced arterial spasms, hypovolemia, or congenital hypotrophic arteries.\nTwo days after intubation, when sedation was stopped, clinical examination showed no improvement of consciousness and fixed pupils were noticed. A CT angiography of the head (Figure 1(a)) showed important supratentorial hydrocephalus with narrowing of cortical sulci and cerebral edema. A normal intracranial perfusion, caliber, and patency of the vertebral arteries and the carotid arteries were seen.\nOn the 6th day, a head MRI (Figure 1(b)) showed extensive recent ischemia in the cerebellum and hemispheres, more pronounced on the right side than the left side. An obstructive dilatation of the third and fourth ventricle with clear signs of edema in the posterior fossa and pontocerebellar cisterna could be noticed. In addition, beginning herniation of the cerebral tonsils in the foramen magnum was visible. The MRI showed flow void in the basilar arteria and internal carotid arteria. Blood results had shown a slow decline in red blood cell count to 2.74 x 1012/L with a hemoglobin of 8.2 g/dl and a rise in white blood cell count up to 17.8 x 109/L with CRP of 27 mg/dl on the day she passed away. Liver function tests and renal function were slightly elevated.\nAfter seeing the evolving ischemia with several CT's that could not clearly differentiate between nonocclusive vasospasms or multitudinous stenosis and no sign of underlying peripheral artery disease, the medical history of the patient was re-examined. This revealed a document 10 years prior to the current hospitalisation suggesting former use of ergotamine containing medication (Cafergot ). Current use of ergotamine prior to hospitalization for a severe migraine attack was also confirmed by the partner. All this information in combination with the clinical presentation led to the diagnosis of ET.\nTreatment was promptly started (3 days after admission), with IV nimodipine, intra-arterial sodium nitroprusside, and nitroglycerin transdermal patches on affected limbs (both legs and right arm). In addition, an epidural catheter was placed for infusion of bupivacaine. The HIV medication was discontinued and to prevent secondary thrombosis anticoagulation with low-molecular-weight heparin was started. However, no improvement was noticeable.\nTwo days after stopping sedation, the patient did not wake up and pupils were fixed. MRI of the head (Figure 1(b)) showed beginning herniation of the cerebral tonsils in the foramen magnum. Neurosurgeons believed that the brain damage due to hydrocephalus was irreversible and that there would be no improvement with external ventricular drainage. Due to the evolving symptomatology and poor prognosis, in agreement with family futile life sustaining therapies were limited and supportive therapy for comfort was started. Patient died 7 days after being admitted at the ICU.",
"gender": "Female"
}
] |
PMC6313968
|
[
{
"age": 10,
"case_id": "PMC7417938_01",
"case_text": "A 10-year-old girl (height 140 cm, weight 50.4 kg) was admitted to our emergency center for intensive care. The patient's mother had a history of Graves' disease. The patient had a medical history of Kawasaki disease at two years old; however, she had been healthy and had steadily grown without further management since then. School teachers noticed her attention deficit and hyperactivity in school; however, no treatment was required. One day prior to admission to our department, the patient visited a local clinic with fever, sore throat, and rhinorrhea. As a rapid influenza test conducted using a nasopharyngeal swab was positive for the influenza A virus, baloxavir was administered. A few hours later, the patient presented tachypnea, restlessness, hypoxia (oxygen saturation 86%, ambient air) and drowsiness. The patient presented tachypnea with stridor, paradoxical abdominal breathing, and \"barking\" cough. Arterial blood gas analysis indicated carbon dioxide narcosis: pH; 7.11, pCO2; 84 mmHg, pO2;110 mmHg, HCO3-; 21.1 mmol/L.\nThe patient was diagnosed with croup and influenza infection and was given nebulized racemic epinephrine and dexamethasone 8 mg intravenously. Since the patient's breathing remained difficult with stridor and her work of breathing was followed by clonic convulsion, intravenous thiamylal (40 mg) was administered and intratracheal intubation using a 5 mm tracheal tube for mechanical ventilation was required. As influenza encephalopathy and airway compromise due to croup with influenza infection was suspected, the patient was transferred to our department for intensive care. In our emergency department, physical examination revealed a body temperature of 40.0 C, blood pressure of 115/68 mmHg, heart rate of 150 bpm, respiratory rate of 12 breaths/min, oxygen saturation of 97% (FIO2 0.8), and Glasgow Coma Scale score of E4VTM4. Her clinical examination revealed a diffuse elastic goiter with bilateral exophthalmoses (Fig. 1A). The patient had normal heart sounds without murmur or gallop. Her lungs were clear when auscultated. Her abdomen was soft and non-tender. Her skin was warm and wet. She had no lower extremity edema. A chest radiograph was normal. The electrocardiogram showed marked arterial tachycardia. Neurological examination showed normal reactive pupils without lateralization signs or neck stiffness.\nLaboratory results were as follows: white blood cell count 14.66 x 109/L; hemoglobin, 11.5 g/dL; serum aspartate aminotransferase 66 U/L (normal range [NR], 10-35 U/L); serum alanine aminotransferase 39 U/L (NR, 0-40 U/L); blood urea nitrogen, 11.3 mg/dL (NR, 8-20 mg/dL); creatinine, 0.37 mg/dL (NR, 0.46-0.79 mg/dL); blood sugar, 142 mg/dL (NR, 73-109 mg/dL); and serum sodium 125 mEq/L (NR, 138-145 mEq/L). Blood lactate level was 0.8 mg/dL. Sputum culture grew oral organisms, but blood culture did not grow any organisms.\nShe had nasal flaring, inspiratory stridor, accessory respiratory muscle use, and paradoxical abdominal breathing. As there was no swelling on the epiglottis and glottis, the 5 mm diameter tracheal tube was exchanged for one 6 mm in diameter. While slight difficulty in intubation was noted due to subglottic stenosis, airway management was successfully performed, and the patient was sedated with midazolam and fentanyl. Computed tomography showed the trachea was narrowed by the nodular goiter (Fig. 1B). Reconstructed computed tomography of the chest revealed a narrowing of the trachea (Fig. 1C). Electroencephalography (EEG) revealed no slow waves or paroxysmal waves. Brain computed tomography was unremarkable. Brain magnetic resonance imaging (MRI) was performed on the second hospital day; a splenium of the corpus callosum lesion appeared with high intensity on diffusion weighted image (Fig. 2). Initial thyroid function tests revealed hyperthyroidism; free-T4; 6.46 ng/dL (normal range NR 0.9-1.4 ng/dL), free T3; 7.51 pg/mL, thyroid-stimulating hormone under the threshold of sensitivity (0.3-5.0 muIU/mL), thyroglobulin under the threshold of sensitivity (NR < 33.70 mg/mL), and TRAb (thyroid stimulating hormone receptor antibody) 39.30 IU/L (NR <= 2).\nEchocardiogram revealed tachycardia >150/min and deteriorated left ventricle ejection fraction (40%), although the patient had no congenital heart disease. As the diagnosis of thyroid storm associated with concomitant high-output cardiac failure was considered, administration of a short-acting beta-blocker (landiolol 1 mug/kg/min), hydrocortisone (300mg/day), thiamazole (30 mg/day), and saturated solution of potassium iodide (170 mg/day) was initiated. Tachycardia and hemodynamics significantly improved after these interventions. Her level of consciousness and thyroid gland swelling causing airway obstruction improved. Thyroid function tests on day 5 demonstrated significantly improved thyroid hormones, free T3 of 3.91 pg/mL and free T4 of 2.84 ng/dL. On day 8, the patient was extubated and transferred to a local hospital on day 11.",
"gender": "Female"
}
] |
PMC7417938
|
[
{
"age": 36,
"case_id": "PMC3406614_01",
"case_text": "A 36-year-old woman presented with a cystic lesion located on the right popliteal fossa, which grew slowly for 7 years and became remarkably larger in the last few months. The lesion was dark red in color (Fig 1) and elastic hard in consistency. When punctured by her primary care physician, darkish blood was aspirated.\nWhat is the differential diagnosis of a subcutaneous cyst around the knee?\nWhich diagnostic imaging studies are appropriate to help reach diagnosis?\nWhat are the therapeutic options for this lesion?",
"gender": "Female"
}
] |
PMC3406614
|
[
{
"age": 81,
"case_id": "PMC8012864_01",
"case_text": "An 81-year-old female was admitted to the Emergency Department of Khorshid Hospital in Isfahan, Iran, with a loss of consciousness and a history of fever, dry cough, and dyspnea over the past few days. The patient had attended the ophthalmology department 5 days before with a red eye and had received treatment for conjunctivitis. Over the following days, she had experienced anorexia, vomiting, and progressive loss of consciousness. She had been tested for COVID-19 before admission to the hospital, and a positive polymerase chain reaction (PCR) test was reported.\nShe had a history of hypertension and was using losartan/hydrochlorothiazide (50/12.5 mg daily), chlordiazepoxide tablets (2.5 mg daily), and Vitamin B6.\nThe initial physical examination revealed a body temperature of 37 C, oxygen saturation of 93% on air, respiratory rate of 22 breaths/min, blood pressure of 166/110 mmHg, and the pulse was 96 bpm. The laboratory results were as below: white blood cell = 145,000/mm 3, red blood cell = 2.47 x 106/muL, hemoglobin = 7.2 mg/dl, hematocrit = 23.5%, lactate dehydrogenase = 2237 unit/L, platelet = 52,000/mm 3, and creatinine (Cr) levels = 8.9-9.1 mg/dL.\nAfter admission to Khorshid Hospital, another PCR test was performed to confirm the previous findings, and it was positive again for COVID-19. A ground-glass pattern was reported in the high-resolution computed tomography (CT) of the lung. Spiral multislices showed diffuse bilateral ground-glass opacity and crazy paving opacity with peripheral and peribronchovascular distribution, a pattern highly suggestive of COVID-19-associated pneumonia [Figure 1]. In a spiral multislice brain CT scan, irregular hypodensities in the deep white matter and centrum semiovale were detected that suggested small vessel disease. Cortical sulci and Sylvian fissures appeared prominent and indicated brain atrophy.\nUpon admission, the patient was immediately treated with nasal oxygen (3-5 L/min) and amlodipine 5 mg oral. Based on the hospital protocol, treatment for COVID-19 infection was initiated: hydroxychloroquine 200 mg tablet twice a day, azithromycin 500 mg daily, and ceftriaxone 1 g intravenous daily. The peripheral blood smear showed schistocytes 3% [Figure 2] without platelet aggregation, suggesting TTP. An infusion of 500 mg methylprednisolone and ISO group fresh frozen plasma was commenced and electrocardiogram monitoring in the emergency department. Unfortunately, 45 min later, the patient developed ventricular tachycardia and subsequently suffered a cardiac arrest. Cardiopulmonary resuscitation was performed immediately, and cardiac shock was given. The cardiac rhythm returned to normal after approximately 30 min of effort. As the patient was being prepared for transfer to another hospital for plasmapheresis treatment, cardiac arrest occurred again, and the patient passed away.",
"gender": "Female"
}
] |
PMC8012864
|
[
{
"age": 0,
"case_id": "PMC7585050_01",
"case_text": "A 22-month-old boy with the chief complaint of an abdominal mass was referred to our hospital. An elastic, hard mass was palpable in his right abdomen on physical examination (Fig. 1). Ultrasonography revealed a nonuniform, hyperechoic mass in the right lobe of the liver. Abdominal magnetic resonance imaging revealed a large solid tumor, with a heterogeneous interior on T2-weighted images, approximately 100 mm in diameter, protruding into the abdominal cavity from the right hepatic lobe (Fig. 2). Chest computed tomography (CT) revealed parenchymal nodules considered to be metastases in both lobes of the lungs (Fig. 3). Although liver function test results were within normal ranges, serum alpha-fetoprotein (AFP) concentration was 248,443 ng/mL. A mixed embryonal/fetal hepatoblastoma was diagnosed via liver tumor biopsy.\nWe planned chemotherapy to treat the hepatoblastoma and lung metastases. However, the day before the scheduled start of chemotherapy, the patient became lethargic and tachycardic, with unstable vital signs that led to shock that was unresponsive to conservative measures. His hemoglobin level was 6.8 g/L. We performed an emergency laparotomy because the patient's small size precluded TAE. During the surgery, the left margin of the tumor ruptured and the tumor contents leaked into the abdominal cavity (Fig. 4). The patient's respiratory and circulatory statuses stabilized after blood transfusion and hemostatic compression of the tumor rupture site. The tumor protruded from the liver, and the capsule had also thinned in other areas that appeared to be in a state of imminent rupture. Therefore, we performed a partial resection of the liver (segments 5 and 6) along the boundary between the tumor and the healthy liver (Fig. 5). In addition, all visible tumor contents in the abdominal cavity were removed. The total operation time was 2 h 54 min, and the intraoperative blood loss volume was 1,190 mL. The postoperative course was uneventful. The histological results for the resected tumor were the same as those from the biopsies.\nThe patient received six courses of chemotherapy (modified SIOPEL-4 regimen) in the pediatric department (Fig. 6). Chest CT performed after chemotherapy showed a barely detectable metastatic lesion in the right lung, which was resected after the fifth chemotherapy treatment, as a reference to the protocol of the SIOPEL-4 regimen. Serum AFP level had decreased logarithmically and remained <10 ng/mL after the completion of chemotherapy. The patient remained in remission 2 years after the emergency surgery despite the poor prognosis indicated by distant metastases at the time of initial diagnosis.",
"gender": "Male"
}
] |
PMC7585050
|
[
{
"age": 60,
"case_id": "PMC3730474_01",
"case_text": "A 60-year-old unmarried male, presented with a history of multiple ulcers over his right groin of 4 months duration. It started as a painless swelling over the right groin, which evolved into multiple ulcers with foul swelling discharge. One month later, he developed a similar swelling in the left groin. There was no history of trauma at the site. Patient denied history of sexual exposure and there was no history of genital ulcer. He does not give history of arthralgia, loss of weight, or loss of appetite. Bowel and bladder habits were normal.\nThe patient also gave history of multiple blisters over the trunk and extremities of 1 month duration. There was no history of oral erosions or drug intake prior to the onset of lesions.\nOn general examination, the patient was moderately built and nourished, there was no pallor, icterus, pedal edema, or generalized lymphadenopathy. His systemic examination was normal.\nExamination of the right inguinal region showed three tender excavating ulcers of sizes 6 x 8, 5 x 7, and 3 x 5 cm, respectively, located adjacent to each other with rolled out, everted edges, and foul smelling purulent, blood-stained discharge. Enlarged, grouped, and matted tender inguinal lymphnodes of sizes 5 x 7 cm were felt below the ulcer. Examination of the left inguinal region also revealed enlarged, grouped, tender inguinal nodes of size 8 x 6 cm present both above and below the inguinal ligament giving the appearance of \"Groove sign of Greenblatt\" [Figure 1]. External iliac lymph nodes were not palpable.\nGenital examination revealed phimosis. A firm, indurated, non tender mass of size 3 x 2 cm was felt through the prepucial skin on the glans penis, located on the 11'o-clock to 2' o-clock position. There was no lymph edema of penis. Per-rectal examination was normal.\nMultiple tense bullae filled with clear fluid and erosions were present over upper limbs, lower limbs [Figure 1], and trunk. A tense bulla was present over the shaft of penis, which eroded later. Nikolsky's sign and bulla spreading sign were negative. There were no oral erosions.\nWith the above clinical findings, a differential diagnosis of lymphogranuloma venereum (LGV) or SCC of penis with regional metastasis associated with bullous pemphigoid (BP) occurring as a para neoplastic phenomenon were considered.\nDark field smear was negative for Treponema pallidum. Tissue smear was negative for Donovan bodies. Gram's stain was negative for gonococci. IgG antibody for Chlamydia trachomatis (serovars L1, L2, L3) was negative. VDRL for syphilis and ELISA for human immunodeficiency virus (HIV) 1 and 2 were nonreactive. Mantoux was also negative. No abnormality was seen in his urine microscopy and pus culture reports. His laboratory investigations revealed anemia. Other blood counts, liver and renal function tests were normal. Tzanck smear taken from the bulla did not show acantholytic cells. His chest x-ray and ultra sound of the abdomen were normal.\nWedge biopsy of the ulcer in the right groin and from the penile growth showed ulcerated hyperplastic epidermis with severe dysplasia. The dysplastic epithelial cells invade the basement membrane forming nests with keratin pearls, consistent with keratinizing SCC of penis [Figure 2]. Skin biopsy taken from a tense bulla over the trunk, showed a sub epidermal bulla with mild lymphocytic infiltrate in the upper dermis consistent with BP.\nHence, a diagnosis of keratinizing SCC of penis with regional lymphnode metastasis and BP was confirmed. Patient was referred for surgical opinion and management.",
"gender": "Male"
}
] |
PMC3730474
|
[
{
"age": 11,
"case_id": "PMC7308213_01",
"case_text": "The proband, a Sudanese male born following normal pregnancy and delivery presented at the age of three months with abdominal distension and constipation, in the absence of a goiter or umbilical hernia. Growth was normal for height and weight at the 50th percentile. Written informed consent was obtained from the parents for blood and serum draws and analyses. Serum TSH and free thyroxine (FT4) were initially measured in Khartoum. Serum thyroid function tests (TFTs) after starting treatment including TSH, total thyroxine (TT4), total triiodothyronine (TT3), FT4, thyroxine-binding globulin (TBG), thyroglobulin (TG), thyroid peroxidase antibody (TPOAb), and thyroglobulin antibody (TGAb) were completed (Immulite 1000; Siemens, Munich, Germany and by Elecsys; Roche, Switzerland). Reverse triiodothyronine (TrT3) was measured by radioimmunoassay (Adaltis Italia S.p.A, Bologna, Italy). DNA for sequencing was extracted from peripheral white blood cells using a Qiagen DNA Blood Mini Kit (Hilden, Germany). DNA from the mother and proband were sent for whole exome sequencing (Novogene, Agilent SureSelect Human All Exon V6 Kit). Whole exome sequencing (WES) results were first scanned for mutations in genes known to be related to TH synthesis or function (Supplemental Table 1). Functional prediction scores Sorting Intolerant from Tolerant (SIFT), Polyphen2 HumanDiv (HDIV) MutationTaster and Combined Annotation Dependent Depletion (CADD) were tested in silico, allele frequency, and zygosity were all considered in determining the likely cause of the CCH phenotype. The mutation was confirmed by sanger sequencing of DNA from all available family members in order to determine the mode of inheritance.\nTFTs at 3 months of age revealed a TSH reported as 0.01 mIU/L (reference range 0.4-4.3 mIU/L) and low FT4 of 1.0 pmol/L (reference range 4-10.6 pmol/L). The proband had no family history of thyroid disease, however, both parents reported being first-degree cousins. The proband was diagnosed with CCH and started on levothyroxine (L-T4) treatment. Now, at eleven-year-old on subtherapeutic L-T4 replacement the TFTs demonstrated undetectable TSH on the Elecsys (<0.01) and on Immulite (<0.03) with Low FT4 (Individual II-1, Figure 1). The proband had normal neurological and psychological development on physical examination. WES found a novel missense mutation located on exon 2 of the TSHbeta, c.T141G p.C47W (numbering includes the 20 amino acid signal peptide). Sanger sequencing confirmed that both parents were heterozygous for the C47W mutation, while the proband was homozygous. The mutation was predicted by several in silico methods to have a deleterious effect (SIFT 0.0, Damaging; Polyphen2_HDIV 0.973, probably damaging; MutationTaster 1, disease causing; and CADD 3.17, 16.62). Analysis of the allele frequency in the African and general populations was not available as this is a novel mutation not located in the Genome Aggregation Database.",
"gender": "Male"
}
] |
PMC7308213
|
[
{
"age": 71,
"case_id": "PMC9726922_01",
"case_text": "A 71-year-old woman with diagnosis of ESS 30 months ago. After receiving treatment with radiotherapy and chemotherapy, the patient remained asymptomatic during the follow-up until 2 years later, when she complained of dyspnea.\n 18F-FDG PET/CT was performed to identify if there was a potential malignancy tumor. The maximum intensity projection image ( Figure 1A ) revealed hypermetabolic lesions in the right thorax ((long arrow) and the right upper abdomen (short arrow). On the axial CT ( Figure 1B ), PET ( Figure 1C ), and fused PET/CT ( Figure 1D ) showed a large irregular lesion in the right lung upper lobe, measuring 8.4 cmx10.2 cmx8.1 cm showing intense 18F-FDG uptake with SUVmax of 13.4. The axial CT ( Figure 1E ), PET ( Figure 1F ), and fused PET/CT ( Figure 1G ) revealed the increased activity corresponded to a slight hypodense right adrenal gland soft tissue mass, measuring 5.1 cmx6.3 cmx6.5 cm showing intense 18F-FDG uptake with SUVmax of 13.4. The patient underwent thoracoscopic resection of the right upper lobe at an outside hospital, and postoperative pathology diagnosed high-grade ESS metastasis to the right side of the lung. The patient had follow-up outside the hospital. After 2 months, the ultrasound revealed a right adrenal mass that was 9.1 x 6.5 cm. After 5 months, the 18F-FDG PET/CT revealed a right adrenal mass that was 11.4 cm x 11.0 cm x 10.8 cm. After a period of recuperation at home, she was came to our hospital for further treatment.\nThe past medical history was significant for hypertension and coronary artery disease. Coronary stenting was performed, and she was usually treated with oral aspirin anticoagulation and avastatin lipid regulation. Physical examination revealed a palpable and hard mass, in the right area of her kidney. The levels of CA-125 were normal (17.49 U/mL, normal reference values: 0-35 U/mL). The levels of CA-199 were abnormal (36.74 U/mL, normal reference values: 0-35 U/mL). Plasma ACTH, angiotensin and renin concentrations were within the normal range. Other laboratory tests showed no significant abnormalities.\nWith adequate preoperative preparation, an open right adrenal tumor resection was performed. The intraoperative exploration revealed a cystic solid mass with a size of about 11.0 cmx10.5 cm. In a pathological view, the lesion was a round, dark red in color, and surrounded by a thick membrane and adhered to the surrounding tissues. On histopathological examination, the tumor cells were seen arranged in a swirling flow structure ( Figures 2A, B ). Immunohistochemistry showed: ER (-), PR (-), CD10 (+) ( Figure 2C ), P16 (+), Ki-67 (50%). The postoperative pathological diagnosis confirmed the high-grade ESS with right adrenal gland metastases. After 4 months of postoperative follow-up, metastasis was detected again during a 18F-FDG PET/CT examination at an outside hospital. The PET/CT of the outside hospital showed thickening of the left adrenal gland union with increased metabolism.\nTimeline: Diagnosed ESS for 30 months:Pulmonary and Adrenal Glands Metastases were detected by 18F-FDG PET/CT before 6 months:She had undergone thoracoscopic right upper lobe resection 5 months ago, and postoperative pathology diagnosed high-grade ESS metastasis in the right lung:Right adrenal tumor resection was performed:After 4 months of postoperative follow-up, metastasis was detected again during a 18F-FDG PET/CT examination at an outside hospital ( Figure 3 ).",
"gender": "Female"
}
] |
PMC9726922
|
[
{
"age": 62,
"case_id": "PMC5620405_01",
"case_text": "A 62-year-old female presented with a left RNP. At first presentation in our hospital, the patient reported progressive palsy starting with painless weakness only of her left wrist and long fingers extension 2 years ago. There was no history of any trauma or surgical procedure at her left upper extremity. Within these 2 years, the patient had a checkup by her family doctor and a neurologist. The diagnostic management included magnetic resonance imaging (MRI) of the cerebrum and cervical spine, electromyography, electroencephalography, and diagnostic analysis of blood and cerebrospinal fluid samples to exclude systemic specific or non-specific infectious or inflammatory or autoimmune diseases. No causes could be found that declared her RNP. So the diagnosis of a radial nerve mononeuropathy with unclear genesis was made, and the patient was treated by oral medication of glucocorticoids and vitamin B12. Additionally, the patient received a prefabricated wrist splint which immobilized only her left wrist in neutral position. Fortunately, stiffness or contractures in the wrist and all finger joints did not appear.\nOn the first clinical examination in our hospital, an incomplete but severe RNP was present. The strength of extension of the wrist and thumb's extension and abduction was completely lost according to grade 0 in Medical Research Council (MRC) scale (0-5), and the extension in the metacarpophalangeal (MP) joints II-V showed palsy grade 3 in MRC scale (Fig. 1A). The sensibility in the peripheral radial nerve area was completely lost. Electromyography revealed an advanced demyelinating radial nerve palsy, but not a complete neurotmesis. On physical examination, there was a painless and non-tender mass around the proximal radius. MRI revealed a submuscular, clearly demarcated and encapsulated tumor with a homogeneous and high-intensity signal similar to subcutaneous fat which surrounds the proximal radius shaft approximately a half part of its total circumference, and without visible septae inside the tumor after gadolinium injection (Fig. 1B). According to these findings, the diagnosis of a benign GL was made by the radiologist, and surgical removal of the tumor with exploration of the radial nerve was detected by us. The tumor was exposed typically through a volar approach. The radial nerve was carefully dissected, it was fixed to the capsule of the GL (Fig. 1C). The encapsulated GL with the size of 11x7x5 cm was completely removed in a monobloc manner. After that, an overstretching-related partial disruption of the nerve with a gap of 1 cm involving a half part of its overall circumference was visible (Fig. 1D). At this time (i.e. 2 years after first neurological symptoms) a sural nerve graft would be inappropriate, and a tendon transfer procedure was detected by us. This could not go beyond the scope of this first surgical procedure because the time of tourniquet already lasted 80 minutes. Additionally, a complete neurotmesis of the radial nerve was not found by electromyography, and so the patient was not cleared up by us on specificities of a tendon transfer procedure preoperatively. Furthermore, the potential risk of problems with wound healing would have been too high due to the necessity of another large surgical incision at this time. The diagnosis of a benign GL was confirmed by histological examination.\nSix weeks after removal of the GL, a triple tendon transfer procedure that included the transfer of the pronator teres (PT) to the extensor carpi radialis longus/brevis (ECRL/B), the transfer of the flexor carpi ulnaris (FCU) to the extensor digitorum communis (EDC), and the transfer of the rerouted extensor pollicis longus (EPL) to the palmaris longus (PL) was performed (Figs. 2A, B). All tendon sutures were done in the Pulvertaft technique (end-to-side: PT to ECRL/B and FCU to EDC; end-to-end: EPL to PL). The wound healing was uneventful. The left upper extremity was immobilized in a plaster splint for 2 weeks. After that, the movement of elbow joint was freed, whereas the wrist was immobilized in the neutral position with a cast which additionally allowed the active flexion of all finger joints accompanied with its feather-related passive extension for another four weeks. Then, active strengthening of the wrist and all finger joints was started. Four months after surgery, the patient was completely able to perform her daily life activities again.\nAt the 10-months follow-up, strength of wrist extension, thumb's extension and abduction, and long fingers II-V extension had all improved to grade 4 in MRC scale that was accompanied with a sufficient circumduction of the thumb (Figs. 3A-C). The patient reported that she would undergo the same motion- restoring triple tendon transfer procedure again if it would be necessary.",
"gender": "Female"
}
] |
PMC5620405
|
[
{
"age": 3,
"case_id": "PMC4724101_01",
"case_text": "A three year old, second lactation Holstein dairy cow presented to the Scottish Centre for Production Animal Health and Food Safety (SCPAHFS), School of Veterinary Medicine, University of Glasgow in November 2014 with a history of post-calving vulval/vaginal bleeding nine days prior to presentation followed by a sudden cessation in milk production. The animal was referred from a 230 cow, year round calving, closed dairy herd in Dumfries and Galloway, south-west Scotland. Cattle are housed all year round and fed a total mixed ration ad libitum. Animals receive leptospirosis, salmonella, infectious bovine rhinotracheitis (IBR) and bovine viral diarrhoea (BVD) vaccinations and the herd is a BVD negative herd in accordance with the Scottish government BVD eradication scheme. All cows are treated in the summer with a deltamethrin pour-on product (Butox Swish, MSD Animal Health, Milton Keynes, UK). This cow was homebred and had not left the farm during its lifetime until it was referred into the veterinary school.\nOn admission the animal was bright, alert and responsive and had a normal appetite and thirst. Tachycardia (100 beats/min) was evident on clinical examination but temperature and respiratory rate were within normal limits. Pallor of oral, conjunctival and vaginal mucous membranes was evident, raising a clinical suspicion of anaemia. There was no vaginal discharge. The remainder of the clinical examination was unremarkable.\nHistory and initial clinical examination enabled significant calving trauma, ongoing haemorrhage and toxicities to be ruled out as potential differential diagnoses for the suspected anaemia in this animal prior to further investigation.\nAn EDTA-anticoagulated blood sample taken on admission revealed a markedly regenerative, severe (haematocrit 9.9 %; ref: 24-46 %) macrocytic anaemia with spherocytes and basophilic stippling present on the blood smear (Figs. 1 and 2) (Table 1). Serum biochemistry revealed hyperbilirubinaemia and elevated alkaline phosphatase (ALKP), aspartate aminotransferase (AST), gamma-glutamyl transferase (GGT) and glutamate dehydrogenase (GLDH) (Table 2), remaining serum biochemical parameters were all within the reference range. These biochemical abnormalities, together with the presence of a regenerative anaemia raised the suspicion of a haemolytic anaemia. \nHaemolytic anaemias commonly result in elevated liver enzymes and increased total bilirubin. Pathologic haemolysis increases haemoglobin degradation and consequent bilirubin formation exceeds the hepatic capacity for uptake and conjugation of bilirubin and excretion into bile, resulting in bilirubinaemia. Upregulation of hepatic function in response to increased need for bilirubin excretion results in increases in liver enzymes seen on serum biochemistry in cases of haemolytic anaemia.\nThere was no evidence of haemoglobinuria or haematuria on either urine dipstick analysis or laboratory urinalysis.\nThe presence of inclusion bodies on the blood smear coupled with a positive direct Coombs' test meant a diagnosis of immune-mediated haemolytic anaemia could be made with suspected underlying infectious aetiology. The inclusion bodies seen on the blood smear were confirmed to be Mycoplasma wenyonii parasites by polymerase chain reaction (PCR).\nGenus-specific Mycoplasma primers generated a specific 270 bp product from whole blood DNA. The Sanger-sequenced product (Source BioScience, Lanarkshire, UK) showed high sequence similarity to Mycoplasma wenyonii str. Massachusetts (NCBI GenBank accession number CP003703 with 97.8 % (forward primer) and 98.7 % (reverse primer) probability.\nThere is a paucity of information available regarding the treatment of either haemotropic mycoplasmas or immune mediated haemolytic anaemia in cattle. Tetracyclines have been reported to be effective in treating both M.haemofelis and M.suis infections and there are reports of M.wenyonii in cattle being treated with oxytetracycline, however response to treatment has been variable. In light of this, oxytetracycline was the treatment of choice in this case. Corticosteroids were considered, as part of this clinical presentation was immune-mediated; however, previous work has shown that Coombs' positive cats infected with M.haemofelis respond to antibiotic treatment alone. In addition to this, there are some cases where concurrent corticosteroid therapy has been shown to delay the clearance of haemotropic Mycoplasma from the blood. It was decided to treat with oxytetracycline alone initially and only use concurrent corticosteroid if warranted by deteriorating clinical status of the animal in spite of appropriate antibiotic therapy. In light of the degree of anaemia exhibited by this animal blood transfusion was considered, however due to the clinical stability of the cow and concerns regarding the possibility of adverse transfusion reactions it was elected not to perform a blood transfusion on this occasion.\nThe cow was treated with 20 mg/kg long-acting oxytetracycline (Alamycin LA 300; Norbrook, Newry, Northern Ireland, UK) every three days by deep intramuscular injection. A blood sample was repeated 48 h following the commencement of treatment which showed a good initial response; haematocrit increased from 9.9 % to 15.2 % (Table 1), and total bilirubin reduced from 23 mumol/l to 6 mumol/l (Table 2). In addition, all elevated liver enzymes were reduced (Table 2). The cow initially improved in demeanour and the mucous membrane pallor resolved as the haematocrit improved, which was to be expected.\nBlood samples for haematology and biochemistry were repeated regularly for the duration of treatment. The haematological improvement continued for the first week following treatment, from which point no further improvement in haematological parameters occurred despite continued treatment (Table 1). Liver enzymes and total bilirubin showed rapid initial improvement then remained within the reference range for the duration of treatment (Table 2). Blood taken on the 8th of December 2014 was PCR negative for Mycoplasma species however there were still a few inclusion bodies seen in small numbers of erythrocytes, which were suggestive of continued Mycoplasma species infection in spite of a negative PCR result. A direct Coomb's test was now negative.\nAfter an initial improvement in demeanour and haematological and biochemical parameters, the cow failed to improve further and approximately three weeks after admission started to deteriorate in demeanour with the development of a soft cough and a persistent tachycardia (heart rate persistently greater than 90 beats per minute). The decision was made to euthanase the cow on the 19th of December 2014, one month after presentation to the SCPAHFS due to limited further improvement and because the prognosis was considered to ultimately be poor.\nA blood sample was taken immediately prior to euthanasia and submitted for repeat PCR testing. This blood sample was positive on PCR for Mycoplasma species however, this could not be confirmed to be M.wenyonii on sequence analysis.\nPost mortem examination showed mild hepatomegaly, mild enlargement of the spleen with prominent lymphoid follicles within the white pulp (Fig. 3) and mild lymphadenomegaly of the right pre-scapular lymph node. Samples of spleen, lymph node, liver and bone marrow were collected in fixative (10 % neutral buffered formalin) and processed for paraffin embedding and sectioning for histological examination. Sections were stained with Haematoxylin and Eosin (H & E). An additional section of liver was stained with Perl's Prussian Blue. \nHistological examination of the spleen confirmed expansion of the lymphoid follicles with prominent germinal centres within the white pulp. The red pulp was moderately congested with an increase in haemosiderin-laden macrophages. In the right pre-scapular lymph node, there was an increase in size and number of lymphoid follicles with expanded germinal centres, along with congestion of the paratrabecular and medullary sinuses. Numerous aggregates of nucleated erythroid precursors and variable numbers of megakaryocytes were noted in the medullary cords (Fig. 4). Hemosiderin-laden macrophages were also prominent in the lymph node. Large numbers of erythroid precursors and megakaryocytes were noted in a section from a bone marrow sample. Increased intracytoplasmic accumulation of haemosiderin (confirmed by Perl's Prussian Blue staining) was also noted in Kupffer cells in hepatic sinusoids (Figs. 5 and 6). \nIncreased haemosiderin accumulation in the spleen, lymph node and liver is consistent with increased erythrocyte turnover as a result of extravascular haemolysis in the context of haemolytic anaemia. The occurrence of extramedullary haematopoiesis (EMH) in the lymph node, characterised by a predominance of erythroid and megakaryocytic elements and the apparent increase in erythroid precursors and megakaryocytes in the bone marrow are both consistent with a regenerative response secondary to anaemia.",
"gender": "Unknown"
}
] |
PMC4724101
|
[
{
"age": 71,
"case_id": "PMC6458882_01",
"case_text": "A 71-year-old man with a 25 pack-year history of tobacco use presented for continuing care, and physical examination revealed a painless right parotid gland mass previously unnoted by the patient. It was palpable as a soft 0.5 cm mass. Cranial nerve examination was without deficits, and no cervical lymphadenopathy was detected. He had a history of left parotidectomy for Warthin tumor three months prior and Mohs surgery of the right cheek for nonmelanoma skin cancer five years prior. CT scan revealed a 1.4 x 1.3 cm right superficial parotid mass. For diagnostic and therapeutic purposes, a right superficial parotidectomy was performed. Intraoperative frozen section examination revealed mucoepidermoid carcinoma, intermediate grade. Thus, the decision was made to perform a right deep lobe parotidectomy with preservation of facial nerve and right neck dissection. The patient underwent definitive IMRT 60Gy radiation therapy following recovery from the surgery and has been followed up for four months.\nOn gross examination of the resected right superficial parotidectomy specimen, serial sections revealed a 1.3 x 1.1 cm firm, tan-white intraparenchymal tumor nodule with ill-defined borders. In addition, a cyst measuring 0.6 cm was present 1.1 cm away from this tumor, with grossly unremarkable intervening parenchyma. Histologic examination of the nodule showed two distinct lesional components that were well-demarcated from each other with no transition zone (Figure 1(a)). One portion showed well-circumscribed multinodular proliferation composed of dark blue, basaloid tumor cells arranged in nests with frequent peripheral palisading. Cytologically, the tumor cells demonstrated ovoid, basophilic nuclei and scant cytoplasm. Distinct, dense ribbons of eosinophilic hyaline material were noted surrounding the islands of tumor cells (Figure 1(b)). These histologic findings were those of basal cell adenoma, membranous type. Immunohistochemical stains for p63 and CK5/6 highlighted a prominent abluminal population, and CK7 highlighted patchy cells throughout, with a subset of luminal cells staining intensely (Figure 2). The other portion of the tumor was characterized by a multinodular proliferation of multiple distinct cell populations arranged in frequent mucin-containing glandular spaces and as solid tumor cell nests. The lesional cells consisted of an admixture of mucous cells (mucocytes), polygonal epidermoid cells, and intermediate cells (Figure 1(c)). A special stain for mucicarmine highlighted intracellular mucin within the mucocytes as well as the extracellular mucin (Figure 1(d)). Cytologic atypia was moderate to focally marked. Necrosis was not seen and the mitotic activity was scant. Immunohistochemical stains for p63 and CK5/6 highlighted a predominant abluminal epidermoid/squamoid cell population, and CK7 highlighted mucocytes and cells adjacent to extracellular mucin of the glandular lumens. The Ki-67 proliferation index was approximately 3-4% (Figure 2). The histologic findings were consistent with intermediate-grade mucoepidermoid carcinoma. Microscopically, the grossly noted 0.6 cm cyst consisted of a simple cyst composed of cytologically bland cuboidal lining cells with focal mucinous metaplasia, consistent with a salivary duct cyst. The parenchyma between this region and the tumor was histologically unremarkable as was the deep lobe of the parotid. Eighteen sampled lymph nodes were negative for tumor.\nTo further investigate the association between the two tumor components, molecular profiles of both were analyzed by next-generation sequencing (NGS) (FoundationOne , Cambridge, MA). Among the 315 genes tested, the MEC and BCA components shared five genomic variants in common, all characterized as variants of unknown significance (VUS). Additionally, each showed one or two distinct likely driver genomic alterations (Table 1). Interphase fluorescence in situ hybridization (FISH) for MAML2 rearrangement, a genetic alteration commonly found in MEC, was attempted, but testing was uninformative as no interpretable hybridization signals were present to complete the analysis.",
"gender": "Male"
}
] |
PMC6458882
|
[
{
"age": 82,
"case_id": "PMC5741137_01",
"case_text": "An 82-year-old man with multiple comorbidities was initially evaluated for coffee-ground emesis associated with a 3-g/dL drop in hemoglobin. Upper endoscopy demonstrated a subepithelial mass with an overlying ulceration and an adherent clot in the duodenal bulb, with no histological evidence of a malignancy (Figure 1). Computed tomography (CT) obtained during the initial hospitalization demonstrated air within an inflamed gallbladder that contained stones and sludge, as well as a rounded, well-circumscribed mass in the duodenum (Figure 2). Liver enzymes at the time were notable for aspartate aminotransferase 182 IU/L, alanine aminotransferase 167 IU/L, alkaline phosphatase 176 IU/L, and total bilirubin 1.4 mg/dL. The lesion, which was the source of the bleeding, was presumed to be a gastrointestinal (GI) stromal tumor, and he was referred for an endoscopic ultrasound (EUS).\nEUS revealed a 21-mm hypoechoic ulcerated subepithelial mass with a duct-like structure in the duodenal bulb. During suction to appose the lesion against the tip of the echoendoscope, the mass decompressed, and the areas of ulceration morphed into 2 small orifices draining bile and small stones (Video 1; Figure 3). Subsequent magnetic resonance imaging demonstrated resolution of the mass-like density in the duodenum (Figure 4). A small bile duct stone and subtle contrast opacification of the cholecystoduodenal fistula was also identified (Figure 4). The patient had multiple comorbid conditions including metastatic prostate cancer, chronic liver disease due to hepatitis C infection, congestive heart failure, ischemic stroke, and atrial fibrillation. He did not have a known history of biliary disorders. Therefore, the patient was managed conservatively because the bleeding had ceased and biliary drainage had been established through the fistula. The patient remained clinically stable without any bleeding, abdominal pain, or jaundice on follow-up. Subsequent endoscopy to assess healing demonstrated the persistence of the fistula orifice and clear decompression of the mass lesion (Figure 5).",
"gender": "Male"
}
] |
PMC5741137
|
[
{
"age": 43,
"case_id": "PMC9479505_01",
"case_text": "A 43-year-old woman presented with severe headaches and generalized malaise for 5 days. Endocrine investigation revealed hypopituitarism with markedly decreased levels of early morning cortisol, thyroid hormone with low thyroid-stimulating hormone, growth hormone, and insulin-like growth factor 1. Physical examination was unremarkable. There were no visual deficits on ophthalmological examination. MRI and magnetic resonance angiography showed a significant mass effect on the pituitary gland, with a giant right cavernous ICA thrombotic aneurysm measuring 26.4 mm at the largest diameter [Figures 1a and b]. Digital subtraction angiography revealed a right cavernous ICA aneurysm [Figures 1c and d]. Considering the possibility of pituitary apoplexy, hormone replacement therapy with hydrocortisone (40 mg/day) and levothyroxine (25 mg/day) was initiated without a hormone loading test. Bayaspirin tablets (100 mg/day) and clopidogrel tablets (75 mg/day) were also administered for 2 weeks before the treatment. One month after the beginning of hormone replacement therapy, the aneurysm was treated using a pipeline Flex device (size: 5.0 mm x 16 mm; Medtronic). Immediately after pipeline placement, the flow-diverting effect and good patency of the stent were confirmed [Figures 2a-c]. The patient tolerated the procedure well, without any complications. MRI at 1 week, 9 months, 16 months, and 24 months after endovascular surgery showed that the cerebral aneurysm thrombosed and shrank accordingly [Figures 3a-d]. One week after endovascular surgery, loading tests of the hypothalamic hormones (corticotropin-releasing hormone, thyrotropin-releasing hormone, and luteinizing hormone-releasing hormone) and growth hormone-releasing peptide-2 demonstrated panhypopituitarism. Although complete functional recovery of the pituitary gland was not achieved at 6 months postoperatively, the hormone loading test confirmed functional improvement of the pituitary gland [Figure 4]. The patient was clinically stable but still required hormone replacement therapy (Cortil tablets [15 mg/day], Thyradin-s tablets [25 mg/day], Minirin melt OD tablets [120 mg/day], Duphaston tablets [10 mg/day], and estradiol tape [0.72 mg once a day]).",
"gender": "Female"
}
] |
PMC9479505
|
[
{
"age": 34,
"case_id": "PMC8093374_01",
"case_text": "Our patient is a 34-year-old male with history of D-TGA who underwent Mustard operation at 14 months of age. Surveillance monitoring showed stable pulmonary pressures, but slowly decreasing RV ejection fraction (RVEF 55% in 2007 to 42% in 2013) and increasing RV end diastolic volume (RVEDV 221 ml in 2007 to 423 ml in 2013) (Table 1). Cardiac magnetic resonance imaging (MRI) in 2013 showed severely dilated and hypertrophied RV (Figure 1A). In June 2014, the patient was admitted with worsening heart failure. He was hypotensive (blood pressure: 86/57 mmHg), lactate was 2.8 mmol/L. He also had evidence of multiorgan failure requiring inotropic support. Catheterization revealed significantly increased mean pulmonary artery pressure (MPAP) at 52 mmHg and PVR at 5.5 wood units (WU), as well as decreased cardiac index (CI) at 1.7 L/min/m2. Due to the patient's inotrope dependence and prohibitive elevation in PVR (> 4 WU), he underwent implantation of a Heart Ware HVAD for systemic RV support. He tolerated the procedure very well. VAD flows were titrated with echocardiographic monitoring, RV chamber size decreased from 6.2 cm at low VAD speed [2,740 revolutions per minute (rpms)] to 5.3 cm at high VAD speed (2,780 rpms) (Figures 1B,C). He was successfully discharged on post-operative day 22.\nB-type natriuretic peptide decreased markedly post VAD implantation. Cardiac MRI could not be repeated due to the presence of the VAD, but chest x-ray showed significant decrease in RV size between post-operative day 1 and 10 months postoperatively (Figures 1D,E). The patient has not had any unplanned hospital readmissions and was able to walk more than one mile daily without symptoms after that. Repeat catheterization in 4 months showed complete normalization of PVR at 1.5 WU, and a CI of 3 L/min/m2. MPAP was 27 mmHg at that time, it continued to decrease to 14 mmHg in 2016.\nBecause of normalization of pulmonary resistance, he was ultimately listed for cardiac transplantation (UNOS status 1B). A suitable donor was identified in February 2017. He underwent VAD extraction and orthotopic heart transplantation (OHT) at that time. Surgical course was complicated by significant blood loss, requiring multiple units of blood products. Otherwise, he tolerated the transplantation very well. Immune suppression was induced with anti-thymocyte globulin, then transitioned to a regimen consisting of tacrolimus, mycophenolate mofetil, and prednisone. Symptoms continued to improve at 3 years post-transplant (New York Heart Association class I) and the patient's quality of life improved given that he is more active. Myocardial biopsies showed no signs of rejection and prednisone was weaned successfully.",
"gender": "Male"
}
] |
PMC8093374
|
[
{
"age": 18,
"case_id": "PMC9619325_01",
"case_text": "An 18-year-old female with no significant past medical history presented with a 3-week history of abdominal pain. The patient was a collegiate cheerleader and the pain started suddenly when performing a stunt at cheerleading practice. Immediately after the injury, she was treated conservatively with Meloxicam and rehabilitation with her team's athletic trainer. After the initial assessment and treatment, she was referred to a formal physical therapist to work on her core and hip strength. A rectus abdominus muscle tear was suspected, and an abdominal musculature ultrasound was performed demonstrating a 2.7 x 1.7 x 3.6 cm full-thickness, grade 3 tear of her distal right rectus abdominus muscle (Fig. 1). Up to the time of the ultrasound, the patient continued to practice with the team, however, she had been removed from some stunts that were becoming too difficult for her to perform. After the diagnosis of the tear by ultrasound, the patient decided the pain was too severe to allow her to continue competing as a division 1 athlete and was causing her significant distress. She was counseled that this injury could take several weeks to months to fully resolve and that her pain was to be expected at that time. She ultimately decided to end her cheerleading career because of the injury to focus on her education.",
"gender": "Female"
}
] |
PMC9619325
|
[
{
"age": null,
"case_id": "PMC6161692_01",
"case_text": "Our patient with CF (homozygous for DeltaF508 genotype) was diagnosed following newborn screening. He was from a rural Queensland family who lived some distance from tertiary CF services. Despite HRCT evidence of progressive bronchiectasis (see Figures 1, 2), growth and development was excellent (Weight and height 64th centile) with baseline FEV1 3.8 l (93.9%). He had previously cultured Staphylococcus aureus (SA) and PsA (non-mucoid) and had one admission in the previous 12 months, requiring a pulmonary optimization with intravenous Piptazobactam and Tobramycin following a period of wet cough and decline in lung function.\nHe presented to his family doctor with a 3-month history of a progressively painful swollen right ankle. He was referred to an orthopedic specialist in a near-by provincial center where an MRI identified a suspected tumor in his distal tibia (see Figure 3). A biopsy confirmed the diagnosis to be a malignant fibrous histiocytoma type osteosarcoma. No systemic metastases were detected.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC6161692_02",
"case_text": "Treatment was initiated using protocol AOST0331 consisting of two 5-week cycles of neoadjuvant induction chemotherapy of cisplatin, doxorubicin and high dose methotrexate followed by surgery and consolidation therapy consisting of 4 monthly cycles. Our patient was supported with GSCF after each cycle to minimize duration of myelosuppression to ameliorate the risk of neutropenia and transfusion burden. In-view of impending immunosuppression he was commenced on prophylactic cotrimoxazole and voriconazole.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC6161692_03",
"case_text": "Two sputum cultures were sent immediately prior to starting chemotherapy, given the patient was asymptomatic he was not commenced on targeted anti-microbial whilst the culture results were awaited. Two days after initiation of chemotherapy he developed wet cough and was productive of green sputum with an associated significant reduction in FEV1 to 2.96 l (69% predicted). Sputum culture grew PsA (non-mucoid) and SA. He was started on twice daily hypertonic saline nebulisers and completed 2 weeks of treatment using intravenous Piptazobactam and Tobramycin.\nSeven days after commencing chemotherapy repeat sputum was PCR positive for NTM with culture growing Mycobacterium intracellulare and Mycobacterium abscessus subspecies abscessus. Given the risk of disseminated disease in patients who are immunosuppressed he was commenced on a 6-month course of oral azithromycin, ethambutol, and moxifloxacin along with a 1-month course of inhaled amikacin.\nFour months after diagnosis he underwent distal tibial resection and free fibula flap reconstruction (see Figure 4) which he recovered well from, requiring repeat bone graft to the right tibia 6 months later. Post-surgery consolidation chemotherapy consisted of cisplatin and doxorubicin, which was well-tolerated. Pulmonary function improved during his treatment from baseline (see Figure 5) with FEV1 4.15 l (102.3% predicted) whilst nutritional status remained stable with weight 64.1 kg (62nd centile).",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC6161692_04",
"case_text": "Twelve months post completion of consolidation chemotherapy and NTM eradication our patient is physically active and is in the process of begin transitioned to adult care. His lung function was reduced with FEV1 3.49 l (81.3% predicted) in the context of a short duration wet cough that was treated with 2 weeks of Tobramycin nebulisers and oral ciprofloxacin. He has normal hepatic function, renal function, audiometry, and echocardiography. There has been no further mycobacterium obtained on repeated sputum culture.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC6161692_05",
"case_text": "His treatment was planned conjointly by the oncology and respiratory teams. There was an obvious concern that immunosuppression from chemotherapy in the presence of PsA and NTM might lead to significant pulmonary complications. What might have otherwise been complex decisions were simplified by the knowledge that without best-practice treatment for his sarcoma, eventual death was the expected outcome for our patient. The role of the Respiratory team then became that of supporting the oncology team and monitoring our patient through the planned cycle of treatment and surgery.",
"gender": "Male"
}
] |
PMC6161692
|
[
{
"age": 31,
"case_id": "PMC8574110_01",
"case_text": "A 31-year-old woman was admitted to the hospital for the treatment of newly diagnosed drug-resistant (pre-extensively drug resistant) pulmonary tuberculosis (chest X-ray at time of diagnosis - Fig. 1). She was treated with second-line antituberculosis drugs: moxifloxacin, kanamycin, cycloserine, prothionamide, para-aminosalicylic acid. After 3 weeks of therapy she developed high fever (> 39 C), lymphadenopathy in the cervical and axillary regions and pruritic maculopapular eruption all over the body (Fig. 2). Hematologic abnormalities such as leukocytosis with eosinophilia (1.81 x 109/l) and monocytosis (1.85 x 109/l) were detected in peripheral blood of the patient. Hepatitis was asymptomatic and detected by the evaluation of liver function: serum aspartate aminotransferase (AST) 1379 IU/l and alanine aminotransferase (ALT) 1221 IU/l; levels of liver enzymes were increased by approximately 30-40-fold above the normal limits. The positive diagnosis of Epstein-Barr infection was based on the onset of increase in the anti-Epstein-Barr immunoglobulin (Ig) G titer (> 200 U/ml), implicating Epstein-Barr virus re-activation. Based on the clinic and laboratory findings diagnosis of DiHS/DRESS was suspected, and all the drugs were discontinued. Symptoms and laboratory abnormalities gradually resolved over 4 weeks without additional treatment.\nA patch test was performed and analyzed according to the recommendations. The results of the patch test are presented in Table 1 and Figure 3. Treatment was adjusted to ethambutol, kanamycin, cycloserine, pyrazinamide, and linezolid, and no new symptoms were observed.",
"gender": "Female"
}
] |
PMC8574110
|
[
{
"age": 47,
"case_id": "PMC10164996_01",
"case_text": "A 47-year-old man presented to the emergency department with a two-week history of pain in the right flank and new-onset painless haematuria. His medical history was notable for 30 pack-years of smoking. Physical examination revealed tenderness in the right flank. The results of the complete blood count and metabolic panel were normal. Creatinine and urea nitrogen were 0.87 mg/dl and 4.30 mmol/L, respectively. Urinalysis showed more than 15977 red cells per high-power field and more than 62 white cells per high-power field. The serum carcinoembryonic antigen result was 5.05 nanograms per millilitre (normal range, 0 to 5.0 nanograms per millilitre). A urine culture revealed Streptococcus agalactiae, and the results of urine cytologic testing suggested that the transitional cell carcinoma was arranged in a papillary structure with mild-moderate heterogeneity of cells, and urothelial carcinoma was considered ( Figure 1A ). CTU showed a filling defect in the lower right ureter with right hydronephrosis ( Figures 1B, C , arrow). Preoperative examination of the bladder with a rigid cystoscope was unremarkable. After the treatment options were discussed, the patient chose to undergo 3D totally intracorporeal laparoscopic kidney autotransplantation, bladder cuff excision, and segmental resection of the proximal two-thirds of the ureter based on the concept of membrane dissection.\nAfter general anaesthesia, a cystoscope was used to examine the bladder, and it showed normal mucosa and no tumour invasion at the bilateral ureteral outlet. The patient was placed in a 70 oblique position on the left side and treated with epirubicin 40 mg bladder irrigation chemotherapy for 30 minutes, and a 10 mm trocar and laparoscopic lens were placed through an incision at the right edge of the rectus abdominis muscle next to the umbilicus. A 12 mm and 5 mm trocar was placed under the costal margin in the midclavicular line and under the glabella, respectively, and a 5 mm trocar was placed at the intersection of the umbilical level and the right anterior axillary line and at the umbilicus and the right anterior superior iliac spine, respectively. The membrane was separated from the right kidney, right ureter, vena cava, and digestive system. The method used for membrane dissection in our study has been previously described in the literature.\nFirst, the right Toldt's line was incised, and the digestive system was separated along the level between the posterior lobe of the right colonic mesentery and the anterior layer of Gorota's fascia as follows: superiorly to the base of the liver, inferiorly to the iliac vessels, and medially to the left side of the vena cava. Then, the right renal artery and vein were freed as well as the right ureter. The right middle ureter was clamped using a hem-o-lock clip ( Figures 2A, B ), the right ureter-bladder was cuffed and resected, and the cystotomy incision was sutured ( Figure 2C ). Then, the following lymph nodes were cleared sequentially: right hilar lymph nodes, right perirenal fat, paraventricular lymph nodes, right internal and closed foramen lymph nodes, and right external iliac lymph nodes. The right renal artery and vein were fully clamped and disconnected, respectively, and the right vena cava was sutured ( Figures 2D, E ). The right kidney and right ureter were quickly removed through an incision of approximately 7 cm in length in the right iliac fossa. We used a flexible ureteroscope in the intraoperative management of the kidney with the aim of confirming the presence of metastatic tumours in the renal pelvis and ureter. The right kidney and right renal vessels were trimmed under cold ischaemic hypothermia supplemented with small ice cubes, and a ureteral stent was placed in the right ureter. The right internal iliac vein was clamped at both ends by bulldog clips, and the right vein was reconstructed end-to-end with the right internal iliac vein ( Figure 2F ). Similarly, the right artery was reconstructed end-to-end with the right internal iliac artery ( Figure 2G ). Then, the right ureter was reconstructed end-to-end with the right posterior wall of the bladder ( Figure 2H ), and finally, the right internal iliac vein and arterial hobgoblin were released to restore blood flow to the right kidney, which was rich in vitality ( Figure 2I ). The right perirenal and pelvic drains were left in place, and each incision was sutured. The patient's operative time was 534 minutes, and the estimated intraoperative blood loss was 100 ml. The patient was discharged from the hospital on the 8th day after surgery.\nFinal pathological analysis revealed high-grade papillary ureteric carcinoma, with negative surgical margins, no invasion of the vasculature and nerves, and no metastasis in the lymph nodes (including right renal hilar, inferior vena cava parietal, right external iliac, right internal iliac, and closed hole). The pathological stage of the tumour was pT2N0Mx. The patient was discharged from the hospital and instructed to take oral aspirin for anticoagulation therapy, and on the 5th day, painless haematuria appeared. Then, we performed \"transurethral cystoscopy\", and no significant bleeding was found in the bladder intraoperatively. We considered bleeding from the right uretero-vesical anastomosis due to postoperative oral aspirin. A regimen of 3 courses of gemcitabine 1.7 g in combination with cisplatin 120 mg chemotherapy was initiated on 23 January, 2022. The glomerular filtration rate (GFR) is a parameter representing kidney function. The GFR of the patient's transplanted kidney was 48.6 ml/min at 4 months after surgery.\nOn 18 April, 2022, the CTU examination was repeated and showed a right ascending colon tumour with a size of approximately 5*4 cm, so laparoscopic radical surgery was performed for a right hemicolectomy. The postoperative pathology suggested intermediately differentiated adenocarcinoma of the ascending colon, and the patient's postoperative genetic test results suggested microsatellite instability (MSI) status of high microsatellite instability (MSI-H), and the immunohistochemistry (IHC) results showed mismatch repair deficiency (dMMR), indicating a diagnosis of Lynch syndrome (LS). Immunotherapy with 120 mg of BCG bladder instillation was started on 12 May, 2022. One year after the procedure, renal function was normal, with a creatinine level of 0.93 mg/dl. The patient was in good health and showed no sign of haematuria. Surveillance cystoscopy and CTU examination showed no evidence of disease recurrence ( Figures 3A, B ). The postoperative cosmetic results were satisfactory ( Figure 3C ), and the patient is still undergoing close follow-up ( Figure 4 ).",
"gender": "Male"
}
] |
PMC10164996
|
[
{
"age": 80,
"case_id": "PMC4204450_01",
"case_text": "All patients underwent IMRT followed by SBRT boost. Figures 1 and 2 show representative cumulative dose distribution and dose volume histograms (DVHs) of critical structures for an 80-year-old patient with SCC histology who underwent definitive RT with concurrent cetuximab for a Stage T4bN2b squamous cell carcinoma of the parotid. The median IMRT dose was 64.8 Gy (range 50-75.6) given in 1.8 Gy fractions in the majority of cases except one (patient no. 6), who received 2 Gy fractions. The median SBRT boost dosage per fraction was 4.5 Gy (range 2-7 Gy) given in a median of five fractions (range 3-6 fractions) for a total SBRT boost dose of 17.5 Gy (range 10-30 Gy) and a total median cumulative dose of 81.2 Gy (range 73.2-95.6 Gy). The median cumulative BED10 was 97.25 Gy (range 88.10-117.20 Gy) and the median cumulative BED3 was 143.8 Gy (range 120.5-167.6 Gy). The median interval between IMRT and initiation of SBRT boost was 1 week (range 0-2 weeks). The majority of the patients received concurrent chemotherapy with their radiation (Table 1). Carboplatin was the most administered chemotherapy, although cisplatin was used in one patient and Cetuximab in another.\nA summary of survival outcomes is shown in Table 2 and Figure 3. At a median follow-up of 29 months (range 12-120 months) for all patients and 43 months for surviving patients (range 12-120 months), actuarial LRC, distant control (DC), PFS, and OS were 88, 81, 68, and 79%, respectively (Table 2, Figure 2). Median values were not reached for any of the survival outcomes. Only one patient (no. 8 in Table 1) failed locally 15 months after the end of his radiation. He enrolled in phase I targeted biologic trials with local progression of his disease and died 8 months later. Two patients (no. 9 and 10 in Table 1) developed distant metastases. One died of disease progression and the other continues to receive palliative radiation therapy and systemic chemotherapy/biologics.\nAcute toxicities included mucositis, dysguesia, skin toxicity, and odynophagia. Generally, the acute symptoms were managed with palliative treatments such as skin creams, mouth wash, narcotics, and nutritional support. There were no grade IV or V toxicities or unexpected acute toxicities. None of the patient required feeding tube placement, and there were no treatment related deaths. Long-term toxicity included hypothyroidism in two patients (no. 1 and 3 in Table 1), sensorineural hearing loss on the affected side in four patients (no. 2, 3, 5, and 6 in Table 1), overnight xerostomia in three patients (no. 3, 4, and 5 in Table 1), and fibrosis in six patients (no. 3, 4, 5, 7, 8, and 9 in Table 1), which was managed with physical therapy in all patients. One patient developed osteoradionecrosis (no. 4 in Table 1), which was managed with hyperbaric oxygen and surgical reconstruction. One patient (no. 3 in Table 1) developed graft ulceration that was surgically reconstructed. Both remain without evidence of disease at their last follow-up. There were no patients with facial nerve injuries.",
"gender": "Male"
}
] |
PMC4204450
|
[
{
"age": 45,
"case_id": "PMC7363694_01",
"case_text": "A 45-Year-old male presented to the Emergency Department following a syncopal episode whilst being at the wheel of a vehicle involved in a road traffic collision. He was driving and accompanied with his partner in the passenger seat, when suddenly started to violently cough after inhaling cigarette smoke. He subsequently lost consciousness at speeds of 30mph causing the vehicle to skid into metal railings. He and his partner escaped from the incident unhurt. Although a long-term smoker with no history of a chronic cough, this was his first episode of paroxysmal violent coughing after inhaling cigarette smoke.\nHis medical history includes many years of wheezing and persistent breathlessness which was investigated and diagnosed six years ago by his General Practioner as Chronic Obstructive Pulmonary Disease. He admits that he has been non-compliant with his prescribed inhaler therapy. Clinically he remained well and there was no evidence of head, neck, hard or soft tissue injuries. His observations, laboratory investigations and Electrocardiogram (ECG) were all within normal limits. The implications of this event on his day to day life became apparent when he was informed of the Driving Vehicle Licensing Agency (DVLA) requirements to notify the incident together with a driving ban for 6 months.",
"gender": "Male"
}
] |
PMC7363694
|
[
{
"age": 10,
"case_id": "PMC3607913_01",
"case_text": "The patient first developed tics when he was 10 years old. The first tic consisted of brief movements of his head to the left. The tics evolved to include sniffing, throat clearing, and blinking. The patient also developed significant attentional disturbances and subsequent difficulties in school. At the age of 12 years, he was diagnosed with Tourette's syndrome. Multiple medications were tried. Typically, his tics would initially respond well to the various medication trials, but he would always relapse within 5-6 weeks. His medication history includes guanfacine (1 mg twice a day), clonidine patch (0.1 mg patch daily), clonazepam (up to 1 mg at bedtime), risperidone (up to 0.5 mg three times a day), propranolol (up to 10 mg three times a day), and levetiracetam (up to 750 mg twice a day) for tics, as well as atomoxetine (up to 60 mg) for attentional deficits. From the ages of 12 to 18 years, he did very poorly in school, which was likely due to a combination of attention deficit disorder and the sedating side effects of his various medications. He had very mild compulsive tendencies, such as excessive counting, but this did not interfere with functioning. Towards the end of high school, he weaned himself off all his medications as none were particularly effective, and currently he is not taking any medications.\nDuring high school, the neck-turning tic began to be pervasive. He discovered that if he applied gentle pressure to anywhere along his head circumference, the tics, and the accompanying urge to perform them, would be completely quelled. Touching his lower face was also effective, although less so. His sensory tricks included resting the back of his head against a wall, resting his chin on his hand, and wearing a bandana or hat. Unfortunately, his school did not allow headgear and this limited his ability to control his neck tic. Now that he is at university, he wears a baseball cap every day with much success in tic control. His other tics, such as sniffing and blinking, which are significantly less bothersome than his neck tics, are not responsive to sensory tricks. Video 1 demonstrates this phenomenon.",
"gender": "Male"
}
] |
PMC3607913
|
[
{
"age": 73,
"case_id": "PMC5457932_01",
"case_text": "A 73-year-old man with disturbance of consciousness, headache and high fever was admitted to the cardiology department of our hospital, and was transferred to the neurological department on day 4. Significant past medical history included an episode of pneumonia 4 months prior and meningitis 2 months prior to this admission. Pneumonia resolved with 7 days of levofloxacin (LVFX), and meropenem (MPEM) was administered for meningitis for 14 days. In both instances, no etiology was detected. The patient was addicted to alcohol, consuming approximately 150 mL of ethanol each day. Physical examination on admission revealed high fever of 38.5C and arrhythmia. Neurological examination identified nuchal rigidity and mild disorientation, but no paresis or numbness. The patient was severely emaciated (height, 163 cm; weight, 43 kg). Although activities of daily life had been sufficient for independence before admission, he was unable to walk without assistance due to severe emaciation; a wheelchair was required for mobility.\nPeripheral blood analysis on day 4 revealed mild pancytopenia (white blood cell count, 6,200 /muL; neutrophil count, 5,208 /muL; lymphocyte count, 682 /muL; hemoglobin, 10.2 g/dL; platelets, 88,000 /muL); and CRP, 1.44 mg/dL, representing a mild increase. The CD4 T-cell count was 23 /muL, but negative results were obtained for human immunodeficiency virus (HIV) antibody and polymerase chain reaction for HIV. Serum testing for beta-D-glucan, Aspergillus antigen and cryptococcal antigen were all negative. Tests to detect soluble interleukin 2 receptor, myeloperoxidase anti-neutrophil cytoplasmic antibody, proteinase 3 anti-neutrophil cytoplasmic antibody, and antinuclear antibody markers for collagen disease were also all negative. The first cerebrospinal fluid (CSF) analysis, on day 4, revealed: cell count, 1,244 /muL (polymorphonuclear cells, 90%; monomorphonuclear cells, 10%); protein, 273 mg/dL; and glucose, 47 mg/dL (simultaneous blood glucose, 135 mg/dL) (Table 1 and Fig. 1). Gram staining and smear for acid-fast bacilli yielded negative results. Adenosine deaminase and cryptoccocal antigen were likewise negative. Although CSF cultures were incubated for 2 weeks for bacteria and 8 weeks for mycobacteria, both appeared to yield negative results. At the same time, two sets of blood cultures were ordered and incubated for 4 weeks, and were still negative. Computed tomography (CT) of the head on admission showed a low-density area in the left uncal region and parietal cortex (figure not shown).\nOn magnetic resonance imaging (MRI) performed on day 14, diffusion-weighted imaging (DWI) revealed a high-intensity spot in the posterior horn of the left lateral ventricle of the brain (Fig. 2A), implying ventriculitis. However, this region appeared iso-intense on apparent diffusion coefficient (ADC) mapping (Fig. 2B). DWI also showed a high-intensity lesion with ADC iso-intensity in the left parietal cortex, judged as representing some kind of inactive lesion (figure not shown). On fluid-attenuated inversion recovery (FLAIR) imaging, a high-intensity lesion was detected in the white matter adjacent to the posterior horn of the left lateral ventricle (Fig. 2C). The parietal cortex lesion was also signal hyperintense on FLAIR (figure not shown). Pneumonia was not detected on chest roentgenography or CT (figure not shown).\nOn day 4, bacterial meningitis was suspected and treatment with vancomycin (VCM), ceftriaxone (CTRX) and piperacillin (PIPC) was initiated (Fig. 1). Rifampicin (RFP), isoniazid (INH) and ethambutol (EB) were concomitantly administered for possible tuberculous meningitis. On day 10, a second analysis of CSF revealed non-significant changes compared with the first analysis: cell count, 802 /muL (polymorphonuclear cells, 90%; monomorphonuclear cells, 10%); protein, 196 mg/dL; and glucose, 34 mg/dL (simultaneous blood glucose, not determined) (Table 1). High fever had not resolved (Fig. 1). Because fungal meningitis was not able to be ruled out, liposomal amphotericin-B (L-AMB) was started. The regimen of VCM, CTRX, and PIPC regimen was switched to panipenem/betamipron (PAMP/BP) and minocycline (MINO). RFP, INH and EB were terminated due to low adenosine deaminase levels in the first CSF analysis. Although negative results were obtained for the CSF culture for fungi, fever resolved several days after beginning L-AMB (Fig. 1) and findings from the third CSF analysis on day 18 had improved: cell count, 128 /muL (polymorphonuclear cells, 83%; monomorphonuclear cells, 17%); protein, 117 mg/dL; and glucose, 38 mg/dL (simultaneous blood glucose, not determined) (Table 1, Fig. 1). Due to bone marrow suppression, L-AMB (100 mg once a day) was terminated on day 21.\nFindings from the fourth CSF analysis, on day 29, showed further improvement: cell count, 40 /muL (polymorphonuclear cells, 65%; monomorphonuclear cells, 17%); protein, 152 mg/dL; and glucose, 41 mg/dL (simultaneous blood glucose, 101 mg/dL) (Table 1 and Fig. 1).\nThese improvements in CSF findings suggested that an undetected fungi was the causative microorganism and that L-AMB had been effective. Fever of 37-38C reappeared around day 35 (Fig. 1), and oral fluconazole (FCZ) was started on day 36. MINO and PAPM were continued until days 28 and 35, respectively. Fever did not resolve and loxoprofen was started on day 46. Fever reduced initially, but relapsed at 37-38C around day 60. A fifth CSF analysis on day 50 revealed worsened findings: cell count, 1,311 /muL (polymorphonuclear cells, 85%; monomorphonuclear cells, 15%); protein, 732 mg/dL; and glucose, 44 mg/dL (simultaneous blood glucose, not determined) (Table 1 and Fig. 1). DWI on days 50 and 71 revealed exacerbation of the ventriculitis (Fig. 2D and G) and partial ADC hypointensity (Fig. 2E and H). Spread of a hyperintense region was evident in the white matter adjacent to both lateral ventricles on FLAIR imaging (Fig. 2F and I). The area of high intensity may have represented brain edema due to ventriculitis. Direct paracentesis of the ventricle was considered, but the family of the patient declined to consent. Although CSF and MRI findings worsened, we persisted in suspecting fungal infection and continued with FCZ.\nDisturbance of consciousness slowly worsened (Fig. 1), and aphasia and left hemispatial neglect gradually appeared around day 60. MRI on day 71 showed the ventriculitis and hyperintense lesion in the white matter adjacent to both lateral ventricles on FLAIR imaging had become more severe (Fig. 2D-F). Neither swelling of the brain nor encephalocele was seen. On days 71 and 84, pneumonia complicated the hospital course, resulting in administration of CTM for 9 days and MEPM for 11 days, respectively (Fig. 1). In both episodes of pneumonia, no causative bacteria were detected. Although the sixth CSF analysis on day 80 revealed improvements in cell count (268 /muL; polymorphonuclear cells, 86%; monomorphonuclear cells, 14%), no improvements were seen in protein (753 mg/dL) or glucose (34 mg/dL; simultaneous blood glucose, 104 mg/dL) (Table 1 and Fig. 1). FCZ was continued because of improvements in cell counts. The general condition of the patient did not improve and he died on day 99 due to transtentorial hernia, as confirmed on head CT (figures not shown). The transtentorial hernia was attributed to brain edema ventriculitis and meningitis. Repeated cultures of CSF and blood until death had consistently yielded negative results for bacteria, fungi and mycobacteria.\nAutopsy was performed 2 hours after death. On opening the cranium, yellowish pus flowed from the left ventricle (Fig. 3A). This pus was not malodorous, and Gram staining revealed a delicate, branching, filamentous organism (Fig. 3B). Although acid-fast staining was not performed, the organism was determined to be a Nocardia species from the colony appearance, and was identified as N. araoensis by 16s rRNA gene sequencing. Pus was observed throughout the basal cistern and pontomedullary cistern (Fig. 3C). In formalin-fixed sections of brain, both lateral ventricles were filled with pus (Fig. 3D) and some small abscesses that had remained undetectable on MRI were seen in the cerebral white matter (Fig. 3E). No infectious lesions were identified in other organs, including the lungs and skin. No evidence of pancytopenia, such as hematological disease or liver cirrhosis, was found. Minimal inhibitory concentration (MIC) testing showed that only doxycycline (DOXY), ciprofloxacin (CPFX) and MINO seemed ineffective (Table 2). The final diagnosis was meningitis, ventriculitis and brain abscess due to N. araoensis.",
"gender": "Male"
}
] |
PMC5457932
|
[
{
"age": 39,
"case_id": "PMC3662738_01",
"case_text": "A 39-year-old woman, gravida 4 para 2022, presented to the gynecologic oncology clinic complaining of persistent vaginal spotting for the prior 5 months. She had a cesarean delivery 3 months before the onset of symptoms. Three months before her presentation, the patient resumed normal menses, which was associated with persistent spotting. She denied abdominal or vaginal pain, dyspareunia, fever, nausea, vomiting, or vaginal discharge. During these months, she also complained of progressive fatigue and exercise-induced shortness of breath.\nHer obstetric history was significant for 2 cesarean deliveries, the first in 2006 and the last 3 months before the onset of her symptoms. The indication for both surgeries was failure to progress. During the last cesarean delivery, the obstetrician reported that the subcutaneous tissue was very thin but densely adherent to the fascia, with significant scarring. Also, the bladder was densely adhered to the uterus. The uterine incision was low transverse, just above the lower uterine segment. Uterine closure was performed in 3 layers. The postoperative period was uncomplicated. The patient had a laparoscopic ovarian cystectomy in 2008. Her last Pap smear, 6 months earlier, had normal findings.\nHer past medical history was positive for iron deficiency anemia and migraine headaches. She reported being allergic to nabumetone. She was taking 325 mg of ferrous sulfate twice per day.\nOn physical examination, the patient had stable vital signs. Her weight was 63.9 kg, height was 1.7 m, and body mass index was 22.1. The pelvic examination revealed normal external female genitalia and some dark blood in the vagina vault, but no visible cervical or vaginal lesions. The uterus was mobile without any masses or nodularity.\nAs part of the patient's work-up, a magnetic resonance imaging (MRI) scan and an ultrasonogram were obtained and showed dehiscence at the lower uterine segment, with a collection of blood in the area of the dehiscence and hematocolpos (Figure 1). These findings led to the diagnosis of abnormal uterine bleeding secondary to uterine scar dehiscence. Treatment options with associated risks and benefits were discussed with the patient, and she opted for a da Vinci-assisted laparoscopic repair of the lesion.\nAfter general anesthesia, the patient was placed in a low lithotomy position, and an 8-mm skin incision was made in the umbilical area. A pneumoperitoneum was created, and three 5-mm incisions were made:2 pediatric da Vinci ports and 1 assistant port were placed. The uterus was densely adhered to the abdominal wall, so adhesiolysis was performed using sharp dissection and electrocautery. The bladder flap was developed using sharp dissection, mobilizing the bladder from the lower uterine segment. The defect in the lower uterine segment was identified. At this point, hysteroscopy was initiated, and the hysteroscopic view showed an approximately 3-cm defect in the lower uterine segment and a thin scarlike membrane covering it; however, during the hysteroscopy, the laparoscopic view showed a bulging lower uterine segment (Figure 2). The intrauterine cavity appeared to be normal. A uterine incision was made using electrocautery and the blood was removed. The edges of the defect were freshened using unipolar electrocautery. The uterus was closed using 0-Vicryl sutures in 2 layers. The sutures were inspected hysteroscopically. After copious irrigation and evacuating the pneumoperitoneum, the trocars were removed and the skin was closed using 4-0 Caprosyn sutures. Blood loss was <50 mL. The patient was discharged home on postoperative day 1.\nThree months later, she had her first follow-up examination and was asymptomatic. She had spotting for about 2 weeks after surgery but has since had no problems. Menses were adequate with no intermenstrual spotting.",
"gender": "Female"
}
] |
PMC3662738
|
[
{
"age": 50,
"case_id": "PMC7229232_01",
"case_text": "A 50-year-old male was referred to the emergency department by his dentist with a perimandibular swelling. In the physical examination there was an indolent, fluid-filled swelling intraorally in the left mandible region with signs of infection. In his medical history an adenocarcinoma of the lung (pT3 pN2b L1 V1 Pn1 R1 M0) was treated operatively with the resection of the right superior lobe and radiotherapy 16 months ago. The patient is a former smoker, not taking regular medication. The common radiological diagnostics, including computed tomography (CT), showed a mandible fracture (Fig. 1) and abnormal perimandibular soft tissue as well as accentuated cervical lymph nodes (level IIa, left). Immunohistochemical analyses of a subsequent intraoral biopsy of the mandible identified a metastasis of the primary adenocarcinoma of the lung (strong expression of cytokeratin 7 (CK7) and thyroid transcription factor 1 (TTF-1)). Using a positron emission tomography-computed tomography (PET-CT) further peripheral metastases could be excluded (Fig. 2). The interdisciplinary tumor board recommended a tumor resection and neck dissection. After a left hemimandibulectomy and left sided-selective functional neck dissection (level I-III) a CAD/CAM microvascular fibula transplant was used for reconstruction. The postoperative histopathological analysis revealed lymph node metastases in levels Ia, Ib and IIa. Postoperatively, the patient received adjuvant chemotherapy with carboplatin and pemetrexed.",
"gender": "Male"
}
] |
PMC7229232
|
[
{
"age": 74,
"case_id": "PMC5498208_01",
"case_text": "A 74-year-old woman was referred to our hospital due to steroid-resistant bilateral uveitis persisting for more than 3 years. The patient had no significant medical history and was seronegative for human immunodeficiency virus (HIV). She had undergone vitrectomy of the right eye that was negative for malignant cells. DNA extracted from the vitreous fluid was negative for immunoglobulin heavy locus (IgH) rearrangements, as determined by polymerase chain reaction (PCR). The levels of interleukin (IL)-10 and IL-6 in the vitreous fluid were 51 pg/mL and 712 pg/mL, respectively. The IL-10/IL-6 ratio was <1.0, which was atypical for a diagnosis of vitreoretinal lymphoma.\nOn admission to our hospital, the visual acuity of the right eye was almost lost. The fundoscopic image of the left eye obtained on admission is shown in Fig. 1A. An analysis after diagnostic pars plana vitrectomy of the left eye did not detect any malignant cells. DNA extracted from the vitreous fluid was negative for both IgH and T-cell receptor (TCR) rearrangements, as determined by PCR. These findings did not support that the uveitis occurred because of lymphoma. The concentrations of IL-10 and IL-6 were 53 pg/mL and 430 pg/mL, respectively. The ratio of IL10/IL6 of the left vitreous fluid was <1.0, similar to that in the right vitreous fluid, as indicated above. Screening for infectious diseases by quantitative multiplex PCR of the vitreous fluid DNA was performed for the detection of herpes simplex virus types 1 and 2, varicella-zoster virus, EBV, cytomegalovirus, human herpes viruses 6-8, Toxoplasma gondii, bacterial 16S, fungal 18S/28S, and mycobacterium tuberculosis, according to our previously described method. The PCR results were negative for all tested pathogens, except for EBV DNA, which was detected at 5.47x105 copies/mL. Her anti-EBV antibody titers were 1:80 for anti-viral capsid antigen (VCA)-IgG and 1:10 for anti-EB nuclear antigen (EBNA). Anti-VCA-IgM antibody was undetectable. An otolaryngological examination was negative for nasal lymphoma. EBV DNA was negative in the peripheral blood, and a systemic examination including the nasal cavity with 2-Deoxy-2-[18F] fluoro-D-glucose positron emission tomography (PET)/CT (FDG-PET/CT) did not detect any lesions. We could not determine the diagnosis of lymphoma and injected subtenon triamcinolone acetonide into the left ocular lesion. However, this failed to improve her symptoms. In order to preserve her visual acuity, 400 mug methotrexate (MTX) weekly for 6 weeks, based on the treatment protocol for vitreoretinal lymphoma, was administered into the left vitreous following the approval of the Institutional Review Board. The treatment resulted in a dramatic improvement, and the patient achieved complete response (CR; Fig. 1B).\nHowever, two years after the MTX treatment and four years after the onset of symptoms, the uveitis of the right eye rapidly progressed. Because of severe ocular pain and loss of visual acuity that was considered irreversible, the patient underwent enucleation of the right eye. A pathological examination revealed massive necrosis and the absence of lymphoma cells (data not sown). While the symptoms were resolved, the patient subsequently underwent both an ophthalmological examination and magnetic resonance imaging (MRI) for the head and neck.\nTwo years and two months after enucleation, multiple hyperintense lesions were detected on T2-weighted fluid-attenuated inversion recovery (FLAIR) imaging MRI in the right occipital and parietal lobes and the precentral gyrus, and a left visual field defect was detected on an ophthalmological evaluation (Fig. 2). The tumor was suspected to be high-grade glioma and was removed by craniotomy; however, the pathological diagnosis was ENKL. As shown in Fig. 3, the infiltrating cells in the pathological specimen were positive for CD3, CD56, and TIA1. The tumor cells were positive for EBV. EBV DNA was negative in the peripheral blood. The DNA extracted from the right vitreous and brain lesions was amplified for the sequence analysis of LMP1, an EBV gene, to determine homology. The forward and reverse primers were 5'-GCT GTC GAC GCC ACC ATG GAA CAC GAC CTT GAG AGG-3' and 5'-GCT GGA TCC TTA GTC ATA GTA GCT TAG CTG AAC-3', respectively, and their nucleotide positions in EBV variant B95.8 (Genbank No. V01555) were 169474-169454 and 168160-168183, respectively. This lesion had sequence variations in each EBV. The conditions for the PCR reactions were as follows: 94 C for 2 minutes, 98 C for 10 seconds, 62 C for 30 seconds, and 68 C for 90 seconds for 40 cycles. The LMP1 sequence was confirmed after TA cloning with PCR products. As shown in Fig. 4, the repeat regions of LMP1 detected in the vitreous and brain lesion were identical. Based on the clinical, pathological, and genetic findings, the CNS lesion was confirmed to be closely associated with and most likely originated from the uveitis. The patient was treated with intravenous high-dose MTX at 3.5 g/m2, administered 3 times, and has since maintained CR for 24 months without recurrence.",
"gender": "Female"
}
] |
PMC5498208
|
[
{
"age": 3,
"case_id": "PMC5485299_01",
"case_text": "A 3-year-old male presented with a left-sided headache localized over the occipital bone, with progressive torticollis over the last year, as well as vomiting and ataxia over the last week. Examination of the patient was unremarkable with the exception of bilateral lower limb weakness. Computed tomography (CT) without contrast showed a large lobulated heterogeneous hyperdense lesion in the left posterior fossa. The lesion exerted a mass effect compressing the 4th ventricle and brainstem structures, with supratentorial triventricular hydrocephalus (Figure 1) accompanied by permeative bone reaction in the left occipital bone (Figure 2).\nMagnetic resonance imaging (MRI) of the brain showed evidence of an infratentorial posterior fossa extra-axial mass that appeared to be dural. There was invasion of the marrow space of the left occipital bone (Figure 3(a)). In addition, heterogeneous signal intensity in T2-weighted images with multiple areas of central higher signal intensities representing necrosis was observed (Figure 3(b)). MRI with contrast enhancement showed the mass invading the inner skull table and intradiploic space (Figure 4).\nDue to the primary malignancy, there was a significant mass effect over the left cerebellar hemisphere. The plane of cleavage between the tumor and the cerebellum was lost, indicating invasion. Furthermore, the tumor was noted to protrude through the foramen magnum, causing compression and displacement over the brainstem, especially over the upper medulla. Additional diagnostic testing with blood and imaging were found to be normal. The patient's tumor had destroyed the involved occipital bone, with minimal invasion of the dura and obvious calcification.\nThe patient underwent a left parietooccipital craniotomy for tumor resection, with samples collected for histopathological evaluation. The gross specimen had a size of 5 x 4 x 2 cm3, grey color, irregular, firm consistency, without obvious necrosis or hemorrhage, and confirmed cerebellar invasion. From histopathology, the tumor sheets showed a compactly arranged round cell tumor with cells having clear cytoplasm. Small spicules of bone were also seen in the tumor tissue, suggestive of occipital bone destruction. It was noted that the cells were large with irregular nuclear membranes and prominent nucleoli. The pleomorphic cells with few pseudorosettes were positive for EWS-FLI1 translocation in 98% of the cells. On immunohistochemistry, cells were immunoreactive for surface antigen CD99/MIC2 and positive for neuron-specific enolase and Leu 7.\nPostoperative CT confirmed total tumor resection. The patient then received adjuvant chemotherapy with focal radiation. The patient was given vincristine, doxorubicin, and cyclophosphamide followed by ifosfamide and etoposide plus radiation to the left cerebellopontine angle. After three cycles of chemotherapy, a subsequent MRI showed marginal response. The patient was then switched to another chemotherapy regimen consisting of vincristine, temozolomide, and irinotecan. The patient was lost to follow-up examination for eight-month duration after confirmation of remission. The patient then presented with severe constant lower back pain and urinary incontinence during the day. A whole-spine MRI showed intraspinal enhancing lesions representing cerebrospinal fluid (CSF) seeding, extending from the level L5-S4 (Figure 5). Palliative treatment including spinal radiation and ICE (ifosfamide, carboplatin, and etoposide) chemotherapy protocol was administered. The patient has been followed for six months to date, with disease stability from the palliative treatment.",
"gender": "Male"
}
] |
PMC5485299
|
[
{
"age": 30,
"case_id": "PMC5569634_01",
"case_text": "A 30-year-old Caucasian female presented to the emergency department with complaints of increasing lethargy and fatigue over the course of several weeks, along with a one-day history of shortness of breath, hematemesis, and palpitations. Past medical history was significant for HIV, anemia, and septoplasty. She was intubated on admission for airway protection due to concern for impending respiratory failure. On exam she was found to be febrile with Tmax of 39.9C, heart rate of 122 beats per minute, respiratory rate of 30 breaths per minute, and blood pressure of 91/57 mmHg, saturating at 97% on 35% FiO2. Complete blood count revealed white blood cells of 3 x 103 cells/mL with 73% segs and 15% bands, hemoglobin of 4.5 g/dL, hematocrit of 17.7%, and platelets of 4,000 cells/mL. Ferritin was significantly elevated at 19,406 ng/mL and triglycerides were 412 mg/dL. HIV viral load was 1,842,730 copies/mL and CD4 count was 4 cells/mL. Physical exam revealed hepatosplenomegaly which was confirmed by abdominal ultrasound. The patient was diagnosed with HLH based on meeting the required five of eight criteria set forth in HLH-2004 guidelines (fever > 38.5C, splenomegaly, bicytopenia with hemoglobin < 9 g/dL and platelets < 100,000 cells/mL, triglycerides > 265 mg/dL, and ferritin > 500 ng/mL). The other three criteria (NK cell activity, CD25 level, and pathological evidence of hemophagocytosis) were not evaluated due to unavailability of labs and thrombocytopenia precluding bone marrow biopsy.\nThe patient was placed on empirical antibiotics (levofloxacin and vancomycin) for sepsis while investigation for infectious source was conducted. She was also started on methylprednisolone for respiratory failure at admission, which was continued for three days. Blood and urine cultures were negative. Sputum culture grew normal flora. Tests were negative for Pneumocystis jirovecii, acid fast bacilli, cytomegalovirus, parvovirus, Epstein-Barr virus, cryptococcus, histoplasmosis, syphilis, and influenza A. The only positive finding was antibody for influenza B, which was attributed to a mild upper respiratory infection that had resolved on its own with supportive measures two weeks prior to admission.\nDespite aggressive transfusions, significant anemia and thrombocytopenia persisted. At this point, the most likely trigger of the HLH was determined to be an uncontrolled HIV infection. Given the patient's clinical instability and unresponsiveness to supportive treatment, ART was empirically initiated with tenofovir/emtricitabine, darunavir, and ritonavir. Within one week of initiation of ART, the patient improved clinically and was able to be extubated, and her laboratory parameters began to normalize (Figure 1). By the time the patient was discharged three weeks after ART initiation, hemoglobin had risen to 10.5 g/dL and platelets to 169,000 cells/mL.",
"gender": "Female"
}
] |
PMC5569634
|
[
{
"age": 40,
"case_id": "PMC7265835_01",
"case_text": "A 40-year-old woman, married, working as a school housekeeper, presented to the emergency department with a one-day history of abdominal pain. This pain started as a vague, mild generalized pain, then localized to the right iliac fossa and became severe and constant. She denied any change in her bowel motions. It was associated with nausea and recurrent episodes of nonprojectile food content vomiting for 3 days.\nShe had a febrile sensation, has not been recorded, and a lack of appetite for the last 3 days, but there was no history of nasal congestion, runny nose, sore throat, cough, or chest pain. The patient did not report any contact with sick patients or recent travel to epidemic areas. The patient was previously healthy with no history of chronic medical conditions of relevance. She was afebrile and vitally stable. She had a peripheral oxygen saturation (SpO2) of 100 % on ambient air, a respiratory rate (RR) 17 breath per minute, a heart rate (HR) 72 beats per minute, and blood pressure 123/85 mmHg. The abdomen was not distended and soft, but there was tenderness and rebound tenderness at the right iliac fossa. There was no organomegaly. The examination of the chest and the other systems were normal. Her routine blood examination showed leukopenia with WBC 3000/muL, lymphopenia 800/muL, a microcytic hypochromic anemia with hemoglobin 9.6 g/dl (normal range 12-15), a mean corpuscular volume (MCV) 62.6 fl (normal range 83-101), and platelet level was normal.\nKidney and liver functions were normal, C-reactive protein 14.4 mg/l (normal range 0-5), and procalcitonin was normal. Pregnancy test was negative. Chest x ray was completely normal initially and after 3 days (Fig. 1).\nBased on the history, physical examination and laboratory results, Alvarado score assessment for acute appendicitis was done (5/10) which supported the diagnosis of appendicitis. CT abdomen was ordered to rule out acute appendicitis. The image revealed that the appendix is normal, but there are bilateral patchy peripheral lung basal consolidations and ground-glass attenuations (Figs. 2 and 3 ). Given the current pandemic of COVID-19, the CT scan findings suggested the possibility of COVID-19. Therefore, nasal and throat swabs from the patients were tested for COVID-19. The results of the reverse transcription polymerase chain reaction (RT-PCR) came back positive for SARS-CoV-2.\nShe was admitted to communicable diseases center (CDC) under airborne isolation and started on a COVID-19 pneumonia treatment local protocol; azithromycin 500 mg IV daily for 10 days, ceftriaxone 2 g IV daily for 10 days, oseltamivir 150 mg q 12 h for 10 days and darunavir/cobicistat (800/150 mg) for 14 days. She has improved and her symptoms have resolved. The CT chest (image 4 and 5) was repeated after 2 weeks of management to confirm the improvement and it showed almost complete resolution of the previously noted patchy lower lung zones consolidation and ground glass opacities without obvious residual significant ground glass opacity or consolidation could currently be appreciated, however, minimal dependent possible congestive changes still noticed. PCR test was repeated after 2 weeks and still positive (Figs. 4 and 5 ).",
"gender": "Female"
}
] |
PMC7265835
|
[
{
"age": 56,
"case_id": "PMC5396431_01",
"case_text": "A 56-year-old female with a history of pulmonary embolism, myotonic dystrophy, and complete heart block on pacemaker presented to the emergency department (ED) with sudden onset shortness of breath and substernal chest pain radiating to the back. There was no history of fever, chills, cough, sore throat, or chest trauma. Her history was negative for any gastrointestinal, musculoskeletal, or neurological symptoms. She was taking rivaroxaban 20 mg once daily for deep vein thrombosis of the left axillary vein diagnosed 7 weeks ago. There was no prior history of tuberculosis, chest irradiation, or chemotherapy. She had a history of pulmonary embolism in 2007 for which she was on coumadin for a year. She had a biventricular pacemaker placed in 2008 for complete heart block induced nonischemic cardiomyopathy. Complete heart block was diagnosed at the same time and was believed to be secondary to myotonic dystrophy. The pacemaker device reached elective replacement indicator and was replaced with a Medtronic Protecta D314TRG device in 3/2012. She was on Tylenol 500 mg as needed for back pain, levocetirizine 5 mg twice daily for seasonal allergies, and rivaroxaban and zolpidem 5 mg nightly as needed. The above-listed medications do not have p-glycoprotein altering activity or CYP3A4/5 or CYP2J2 inhibiting activity. The past surgical history and family history were unremarkable.\nIn the ED, her blood pressure was 78/48 mm Hg, pulse 106/minute, temperature 36.5 F, and respiratory rate 18/min with saturation of 87%. Her height and weight were 1.7 m and 180 lbs, respectively. Cardiac examination was normal. Chest examination was significant for bibasilar rales. Electrocardiogram revealed ventricular paced rhythm. There was no associated electrical alternans. Lab tests revealed negative troponin, INR of 1.3, and PTT of 28 s. Complete blood count and basic metabolic profile were unremarkable. Computed tomography (CT) on chest showed no pulmonary embolism but revealed a large hyperdense pericardial effusion (Figure 1). Echocardiogram showed moderate-sized circumferential effusion with a swinging heart consistent with pericardial effusion (prior echo 4 years ago showed no pericardial effusion) (Figure 2). Inferior vena cava was dilated with no respiratory collapse and right ventricle outflow tract collapsed in diastole. With the diagnosis of cardiac tamponade, emergency subxiphoid pericardial window was performed and a total of 300 mL of bloody pericardial fluid was drained. Hemostasis was achieved and was satisfactory. Transesophageal echocardiogram confirmed emptying of the collection as well as improved cardiac function. There was immediate improvement in her hemodynamic status. Postprocedure images showed complete resolution of the effusion. Further etiologic workup was unrevealing. Pericardial fluid culture was negative with normal cytology. Pericardial tissue biopsy was negative for malignancy. Thyroid and liver function tests were normal. ANA, rheumatoid factor, anti-saccharomyces cerevisae antibody, anti-mitochondrial antibody, C3, C4, and anti-liver-kidney-muscle antibody were negative making the autoimmune cause unlikely. Myotonic dystrophy was considered to be an unlikely cause of her hemopericardium as pericardial involvement has not been reported with it. In addition, her previous echo was negative for pericardial effusion. There was no temporal relation to the axillary vein DVT and the pacemaker lead implantation as CT scan done in 2013 and echocardiogram done in 2015 mentioned a normal pericardium with appropriately implanted leads. Intraoperatively, there was no mention of pacemaker lead induced pericardial perforation. Further hospital course, unfortunately, was complicated by healthcare associated pneumonia with septic shock and multiorgan failure. The autopsy was not done.",
"gender": "Female"
}
] |
PMC5396431
|
[
{
"age": 8,
"case_id": "PMC9159873_01",
"case_text": "An eight-year-old female of Iraqi descent presented to the Department of Clinical Genetics with a history of global developmental delay, regression, microcephaly, spastic diplegia, and leukodystrophy confirmed on brain magnetic resonance imaging (MRI).\nThe patient was the fourth child born to double first cousins. She had two older healthy siblings and a brother who died at 12 days of age following an infection. The patient had an unremarkable perinatal course and was slowly meeting her developmental milestones. At four years, she developed fever, following which she lost the ability to walk independently and showed signs of developmental regression. At that time, she had her first episode of myoclonic seizures.\nAt age six, the family emigrated to Canada. Within a year, the patient was wheelchair bound and had lost spontaneous speech. Ophthalmologic and hearing exams were normal. A neurological assessment identified microcephaly (<1 percentile), poor growth parameters (weight and height were at 5th percentile), and a pattern of spastic tetraparesis. MRI scan of the head showed generalized cerebral atrophy and ventriculomegaly with periventricular white matter volume loss (Figures 1 and 2). Electroencephalogram (EEG) confirmed frequent bitemporal epileptiform discharges.\nChromosomal microarray analysis identified greater than 21% absence of heterozygosity (AOH) and no copy number variants (CNV). Rett gene (MECP2) testing was normal. Metabolic screening including plasma amino acids, acylcarnitine profile, total and free carnitine, plasma lactate, ammonia, urine organic acids, and urine mucopolysaccharide screen were negative. Negative results were received from genetic testing with a 201 leukodystrophy genes panel and mitochondrial DNA panel.\nAt age nine, she was diagnosed with precocious puberty in addition to nonclassic, late-onset congenital adrenal hyperplasia. Cortical blindness was confirmed by an ophthalmological assessment. There were difficult to control seizures and her symptoms worsened. A request for funding of whole exome sequencing (WES) was declined on the administrative basis of the previous negative panels ordered less than three years prior.\nAt 12 years of age, approval for a clinical WES was granted and the results identified two diagnoses. There was a homozygous pathogenic partial HERC2 gene deletion of exons 43-45 responsible for autosomal recessive HERC2-related disorder, which is characterized by intellectual disability, gait disturbance, seizures, hypotonia, and brain anomalies. This was recently described as a cause of pediatric lethality in a consanguineous population.\nIn addition, a homozygous ACMG class 1 mutation (c.836 C> T, p.A279 V) in the SUMF1 gene was identified, which is responsible for autosomal recessive multiple sulfatase deficiency (MSD). MSD is a lysosomal storage disorder that presents with developmental delay, regression, leukodystrophy, and coarse facial features. SUMF1 was not included in the initial leukodystrophy panel (Supplementary Material 1). The diagnosis of MSD was further confirmed biochemically by very low leukocyte arylsulfatase A activity (0.05 nmole/h/mg protein and low leukocyte arylsulfatase B activity 3 nmol//mg protein (same-day control 101 and 133). We were able to correlate the above changes to 21% AOH identified on her chromosomal microarray analysis. The AOH included 15q13.1, which harbors the HERC2 gene as well as the region 3p26.1 which carries the SUMF1 gene (Supplementary Material 2).\nHer parents were identified to be carriers for those two conditions. Both parents and caregivers now have a better understanding of the cause and overall prognosis. The parents have presently accepted a referral to the palliative care team. The older siblings have also been made aware of the genetic findings and advised to seek prenatal counseling.",
"gender": "Female"
}
] |
PMC9159873
|
[
{
"age": 40,
"case_id": "PMC9320325_01",
"case_text": "In 2021, a 40-year-old male patient came for consultation. He had chronically recurrent gastrointestinal bleeding for 15 years, developed malignant lesions of the descending part of the duodenum, and then underwent pancreaticoduodenectomy in our hospital. The patient has lost 15 kg of weight since the onset in September 2020. Moreover, he had no notable family medical history.\nThe patient was admitted to the local hospital on March 8, 2019, and operated on a partial enterectomy with a 150 cm intestine because the enteroscopy found bleeding in a part of the intestine. However, the patient was still under anemia after the operation (Figure 1). After then, the patient suffered from jaundice and incomplete ileus with the feeling of ventosity and nausea in October 2020. The local hospital implemented PTCD to improve jaundice and treat fasting, nasogastric drainage, and total parenteral nutrition for incomplete ileus. However, they did not find a solution to handle the bleeding event. Therefore, the patient came to our hospital for further medical consultation. Tracing the history, we found that the patient had anemia before he was 16 and was given blood transfusion therapy. This situation recurred 3-4 times before.\nWe did regular pre-operation examinations after the patient was admitted to our hospital. Enhanced computer tomography showed dilatation of the duodenum and stomach, and there was a space-occupying lesion that tended to be malignant. Magnetic resonance imaging revealed duodenal malignancy, slight dilatation of the bile duct, and fatty liver (Figure 2). Obviously, the gastrointestinal obstruction was caused by the occupying lesion of the descending part of the duodenum.\nUpper gastrointestinal endoscopy revealed multiple diffused polyps located in the stomach and the duodenum, and colonoscopy showed the same extent polyps of varying sizes localized in the rectosigmoid region. The onset of small intestinal malignant tumors combined with upper and lower gastrointestinal tract polyps might suggest MUTYH-associated polyposis syndrome (MAP) or Lynch syndrome. Nevertheless, further physical examination revealed that the patient had macrocephaly, and dermatologic examination was remarkable (Figure 3). Miliary papules were scattered on the face, especially on the forehead. Also, there was papilloma of the tongue, hyperkeratosis of soles, and melanosis spots on the glans of the penis. Therefore, we considered the possibility of other diseases such as Cowden syndrome and P-J syndrome and performed a radical pancreaticoduodenectomy (classic Whipple) to remove the malignant lesion in the duodenum on March 23, 2021.\nThe gross pathology showed a 6 x 5 x 4 cm cauliflower-like protrusion lesion (Figure 2). The cut surface of the tumor was pale, soft, and fragile and visually infiltrated the muscular layer of the duodenum. Diffuse hyperplastic grayish-brown polyps could be seen in the entire intestinal wall, ranging from 1 to 4 mm. The common bile duct was dilated, and the pancreas was undisturbed. Microscopic pathology (Figure 4) reported that the cauliflower-like elevated tumor of the duodenum was considered a hamartomatous polyp, with malignancy in some areas (80% non-mucinous adenocarcinoma, 20% mucinous adenocarcinoma). Also, the carcinoma tissue had infiltrated into the subserous layer. Other polyps were described as polypoid hyperplasia of mucosal glands. No metastasis was observed in perigastric lymph nodes and peripancreatic lymph nodes. In addition, it is suggested that the mesentery nodules were hemangioma. Immunohistochemical results showed Ki-67(40% positive), CDX2(+), MSH2(+), MSH6(+), PMS2(+), CK20(+), STK11(+/-), PTEN(expression deletion), Her-2(weak +), SATB2(little +), D2-40(no apparent lymphatic tumor thrombus was found), and p52(DO7) (70%+); special staining showed no definite venous invasion of elastic fibers. Immunohistochemical results showed that PTEN protein expression was lost in the tumor and surrounding mucosal tissues, which may be an important factor in tumorigenesis. However, MLH1 and STK11 proteins were normally expressed. Therefore, we believed Cowden syndrome was the most likely diagnosis. At the suggestion of the pathologist, further NGS gene testing was carried out.\nGene testing of the tissue samples suggested multiple germline gene mutations. A frameshift mutation was detected in the PTEN gene, leading to amino acid p.E242fs alternation. We refined the localization to position 89717695 of chr10, which might lead to a premature terminator in the new reading frame, resulting in protein dysfunction and having pathogenic significance. According to the large population databases (gnomAD, ExAC, 1,000 genome, ESP6500, etc.), this was a rare mutation that has never been discovered before. Partial genetic mutations of the PTEN gene are related to PTEN hamartoma tumor syndrome/Cowden syndrome. This autosomal dominant genetic disease is associated with an increased risk of breast cancer and thyroid disease and may increase the risk of endometrial cancer and central nervous system tumors. On chr13, missense mutation occurred in two-locus:32906558 and 142274875, causing P.C315S of the BRCA2 gene and p.T729A of ATR change. Missense mutations occurred in PALB2 and MC1R gene on chr16, causing p.Q1114R and p.A166G changes. All mutations of these germline genes were heterozygous mutants, and their clinical significance for CS has not been clarified except for PTEN. Four critical tumor driver gene mutations were detected in the patient. Tumor mutational burden was 2.20 muts/Mb, and microsatellite instability was detected as microsatellite stable. The mutation in exon 2 of KRAS changed P.G12A inactivated GTPase, leading to the accumulation of tumor-associated KRAS in the active GTP-bound conformation. That possibly promoted the development of malignant tumors. Currently, there are drugs targeting KRAS gene mutations in the market. Nevertheless, the detection of KRAS mutation also suggested that patients with colorectal cancer may be resistant to Cetuximab(A) and Panitumumab(A). These discoveries can be expected to guide the follow-up treatment. The other three mutations, resulting in p.R714H, p.A4083P, and p.D351G alternations, were detected in exon 11 of CREBBP, exon 48 of KMT2C, and exon 9 of SMAD4. However, the clinical significance of these mutant genes is unknown. PD-L1 immunohistochemical staining score is as follows: TC >= 1% and IC+:2%; the result was positive.\nBased on that evidence, the diagnosis of Cowden syndrome is confirmed. Since there were no indications such as regional lymph node metastasis, postoperative adjuvant chemotherapy was not performed. The patient was followed up for 1 year, and there was no postoperative obstruction of bilioenteric anastomotic stenosis. Gastrointestinal bleeding did not recur, and the anemia had been corrected. Repeated reexamination of tumor markers did not suggest recurrence. All these suggest a good prognosis.",
"gender": "Male"
}
] |
PMC9320325
|
[
{
"age": 0,
"case_id": "PMC3015617_01",
"case_text": "A fifty-year-old man was initially treated by ERCP for suppurative cholangitis. During the ERCP session, the patient became agitated, and the procedure was aborted after a simple sphincterotomy. A repeat session with the patient under general anesthesia was unsuccessful in removing the distal CBD stone (approximately 1 cm in size) because of the inability to manipulate and crash the stone. The following day, the patient underwent a laparoscopic exploration that had to be converted to open cholecystectomy due to the unclear anatomy. During the open procedure, the CBD was explored and 1 stone was extracted. The intraoperative cholangiogram revealed a retained stone in the distal CBD but flow of contrast in the duodenum (Figure 1). The patient was discharged with a T-tube in place. Seven weeks later, the patient presented with mild acute pancreatitis. The T-tube cholangiogram showed at least 1 stone impacted in the distal CBD (Figure 2). A percutaneous approach under fluoroscopy was at this point attempted, but it failed due to the inability to grasp the stone. A 16 Fr drain was left in the T-tube tract.\nAt this point, the patient was taken to the operating room with the intention to perform EHL via the T-tube tract.\nWith the patient under conscious sedation, 2 wires were inserted through the T-tube tract under fluoroscopic guidance. The retained stone was confirmed to be approximally 2 cm above the ampulla. A flexible cholangioscope was introduced over the guidewire. Basket extraction was again attempted under direct vision. With some manipulation, the stone was freed from the bile duct wall. Subsequently, a 3 Fr EHL probe was passed through the working channel of the choledochoscope. Utilizing 80 W current, adequate fragmentation of the stone was obtained. During the process of stone fragment extraction, the patient became agitated and hypoxic with signs of pulmonary edema and hence endotracheally intubated. A few more fragments were removed, and a cholangiogram revealed contrast flowing into the duodenum (Figure 3).\nThe patient was kept intubated overnight. At a 3-year follow-up, the patient was asymptomatic without evidence of recurrence.",
"gender": "Male"
}
] |
PMC3015617
|
[
{
"age": 83,
"case_id": "PMC4681885_01",
"case_text": "In 06/2008, an 83-year-old, Caucasian female with a past medical history of Alzheimer's disease, coronary artery disease, hypertension, and hyperlipidemia presented with acute shortness of breath to the University of Texas Medical Branch emergency department. Computed tomography (CT) of the chest with intravenous (IV) contrast showed a saddle embolus with multiple bilateral, central, and peripheral pulmonary emboli. She was diagnosed with acute, unprovoked PE. Hypotension requiring monitoring by the intensive care unit complicated her hospital course. Transthoracic echocardiogram showed moderately reduced left ventricular systolic function with an ejection fraction of 30-35%, moderately dilated right ventricle (RV), and mildly reduced RV function. Right ventricular systolic pressure was 40-45 mm Hg. Bilateral doppler ultrasound of lower limbs revealed bilateral DVTs. She received anticoagulation therapy and, due to the high risk of further PEs in the future, an interventional radiologist deployed an infrarenal vena cava filter (G-2 recovery retrievable filter). Six months later, a repeated CT scan of the chest with IV contrast showed an almost complete resolution of the PE. However, the patient remained on chronic oral anticoagulation and there was no discussion of retrieving the IVC filter.\nIn 9/2010, the patient presented to the internal medicine clinic with left sided pleuritic chest pain. Unchanged electrocardiogram and negative cardiac biomarkers ruled out acute coronary syndrome. Chest CT scan with IV contrast showed a high-density linear structure extending into the superior segmental and superior lingular segmental pulmonary artery branches and the left lower lobe (Fig. 1). This most likely represented a broken IVC filter strut. A chest x-ray shows the same finding (Fig. 2). Abdominal CT scan with IV contrast revealed the infrarenal IVC filter with missing struts. Fig. 3 shows a comparison between two abdominal CTs. The CT scan taken in 12/2008 shows the IVC filter with 12 struts while the CT taken in 9/2010 shows only 11 struts. The patient was diagnosed with stable chronic angina pectoris and her chest pain improved with nitroglycerine. As the displacement was asymptomatic and the removal procedure holds risk of complications, a multidisciplinary team chose a conservative approach and left the IVC filter strut and the original IVC filter in place. The patient was managed with chronic oral anticoagulation. Over the next 4 years the patient's symptoms were monitored through regular clinic follow ups and serial chest CT scans. As of 2/2014, the patient remained asymptomatic and there was no evidence of any complications, including changes in the position of the fractured and migratory strut.",
"gender": "Female"
}
] |
PMC4681885
|
[
{
"age": 70,
"case_id": "PMC5340951_01",
"case_text": "A 70-year-old female patient consulted medical doctor for recurrent moderate abdominal pain in the last few months. She had had a cholecystectomy 30 years ago; later on, without significant illness in medical history, she was a teetotaler and she smoked 2 cigarettes per day during 10 years but stopped completely during the 6 last months. Routine blood tests were in the normal range. Abdominal ultrasound did not visualize the pancreas well due to bloating. A CAT scan was performed, finding multiple calcifications and irregularly dilated main pancreatic duct, predominantly in the pancreatic head (Figures 1(a) and 1(b)), where the dilatation had some cystic aspect and was disproportionally more pronounced than in the pancreatic body and tail. The same alterations were confirmed by MRI (Figures 1(c) and 1(d)), without intramural nodules in the dilated main duct. Based on the two imaging methods, we could not distinguish between chronic calcifying pancreatitis and mucin-producing neoplasia, that is, main duct IPMN. ERCP was performed, and contrast injection revealed a cystic dilation of main pancreatic duct in the head (Figure 2(a)). The duct of Wirsung was less dilated in the body. Through pancreatic papillotomy, typical whitish pancreatic stone passed into the duodenal lumen (Figure 2(b)). However, after having continued the contrast injection, mucin passage was seen producing the typical fish eye appearance in the major and also the minor papilla (Figures 2(c) and 2(d)). Simultaneous existence of CP with pancreatic stones and main duct IPMN was our final diagnosis. Given the high probability of malignancy in the dominant cystic lesion, surgery was decided and performed. Surgery revealed a cystic tumor that was found in a fibrotic pancreas. Pancreatoduodenectomy was performed with preservation of pylorus and pancreaticogastrostomy. Some whitish pancreatic stones were extracted. No lymph node metastasis was seen. Histological (Figure 3) findings confirmed the existence of a mucinous tumor emerging from the main pancreatic duct, with multiple foci of high grade dysplasia and even with evident transformation into an infiltrative malignant lesion (Figure 3). No lymph node metastasis or vascular involvement was found. Fibrosis, acinar cell degeneration, and tubular complexes were seen in the surrounding tumor-free pancreatic tissue. The patient is still doing well 4 years after the intervention, without suspicion of any tumor recurrence.",
"gender": "Female"
}
] |
PMC5340951
|
[
{
"age": 52,
"case_id": "PMC4272654_01",
"case_text": "A 52-year-old woman presented with a history of progressive nyctalopia and visual acuity (VA) loss over the last two decades. On ophthalmic examination, her best-corrected visual acuity (BCVA) was of 20/200 in both eyes (with a correction of +12,75 diopter sphere OU). Biomicoscopy showed symmetric shallow anterior chambers, with corneal diameters of 12,5mm, and moderate nuclear lens opacity.\nGonioscopy was performed and showed open angles, and IOP was 10mmHg OU. Fundoscopic examination disclosed large optic disc drusen, cystic macular changes, and retinal pigment epithelium (RPE) clumping and atrophy at the macular region and mid periphery in both eyes, as well as vascular sheathing (Figure 1).\nBiometric scans showed short axial length (16.79 mm in the right eye and 15.40 mm in the left eye). Electroretinogram (ERG) showed abolished photopic and scotopic light response in both eyes, compatible with RP. OCT macular scans demonstrated a diffuse increase in retinal thickness and hyporeflective cystic changes at the inner and outer plexiform layers, as well as a small pocket of subfoveal fluid in the right eye. Central foveal thickness was of 694 +- 12 microns in the right eye and 483 +- 14 microns in the left eye. Central retinal volume was of 13.65mm3 in the right eye and 10.49mm3 in the left eye (Figures 2A and B).\nThe molecular analysis was performed and the patient was a compound heterozygote for two frameshift mutations in exons 5 (492delC) and 10 (1149dupC).\nThe patient was submitted to phacoemulsification in both eyes in a week interval, and a +40 dioptries intraocular lens (IOL) was implanted in both eyes. After cataract surgery and IOL implantation, vision was stable at 20/100. The patient was then treated with topical dorzolamide 2% 4 times a day as an attempt to reduce the cystoid macular edema.\nTopical CAI was applied for two months. During that interval, the patient's BCVA improved to 20/50 OU. A progressive decrease of macular thickness and of cystic changes, more pronounced at the right eye, was observed during the course of topical CAI treatment, and the central macular thickness improved to 355 +- 12 microns in the right eye (central volume of 10.31mm3) and 361 +- 22 microns in the left eye (central volume of 10.00mm3) (Figure 2C and D). Macular thickness remained stable after six months of follow up (four months after discontinuation of the treatment).",
"gender": "Female"
}
] |
PMC4272654
|
[
{
"age": 19,
"case_id": "PMC5061310_01",
"case_text": "A 19 year-old male who jumped off a bridge and was subsequently hit by a passing car presented as a polytrauma call to our hospital. His Glasgow Coma Scale (GCS) was 3 - E1V1M1 at the scene and he had a tension pneumothorax which was decompressed at the roadside.\nHe was intubated before arriving in the emergency department. His CT Head showed a fracture to the right pterion with an associated underlying fracture haematoma. There was no intracranial haemorrhage or contusions to note. His cervical spine was radiologically normal. Additionally he had associated lumbar, pelvic and coccygeal fractures.\nInitially he was managed for his low GCS and head injury with an intracranial pressure bolt monitor. His repeat CT Head the next day revealed radiological features of diffuse axonal injury. A week later he was difficult to wean off sedation and a repeat CT Head was undertaken which revealed evidence of new left sided hypodensity of the brain, suggestive of an infarction in an area which did not previously show contusion/pathology.\nThis made us investigate further and a CT Angiogram of the neck was undertaken (Fig. 1) and subsequently an MRI Head with contrast (Fig. 2, Fig. 3).",
"gender": "Male"
}
] |
PMC5061310
|
[
{
"age": 0,
"case_id": "PMC7817230_01",
"case_text": "Subsequently, the infant developed unrelated renal vein thrombosis complications and renal atrophy, which were managed accordingly. The infant developed cutaneous HSV lesions whenever valacyclovir was discontinued, even for a few days. The vesicles were mostly present over the lower abdomen, back, and lower extremities. Breakout lesions occurred at least 3 times over the last 6 months. When writing this report, the child was 20 months old, on valacyclovir, and had normal developmental milestones for corrected age. The growth pattern of the child is illustrated in Figure 3.",
"gender": "Unknown"
}
] |
PMC7817230
|
[
{
"age": 51,
"case_id": "PMC4080668_01",
"case_text": "A 51-year-old female patient non-smoker was diagnosed with carcinoma lung in September 2010. Work-up revealed: Staging positron emission tomography computed tomography (PET CT)-Mass lesion in left upper lobe (T1) with N2 lymph node. The biopsy revealed adenocarcinoma. She received 3 cycles of neoadjuvant chemotherapy with pemetrexed and cisplatin. She had near complete morphologic and metabolic response to chemotherapy on PET CT after 3 cycles of chemotherapy. She underwent left upper lobectomy on 24-12-2010. Histopathology revealed residual foci of adenocarcinoma 0.1 cm (yPT1N0M0). She was on regular follow-up since then. She developed a headache after 16 months of surgery. She presented with headache and occasional vomiting in august 2012. Clinical examination including neurologic examination was normal. Magnetic resonance imaging (MRI) brain revealed extensive leptomeningeal enhancement in the right parietal and occipital lobes though there was no parenchymal metastasis. CT scan thorax and abdomen was normal. Cerebrospinal fluid (CSF) cytology was negative once. Repeat CSF cytology was positive for metastatic carcinoma.\nOmmaya reservoir was placed followed by weekly intraventricular methotrexate (MTX) injections. Patient was also started on gefitinib 250 mg once a day. Her tumor sample was analyzed for epidermal growth factor receptor (EGFR) mutation, which was positive. After 3 months of weekly MTX her symptoms improved remarkably. Her headache subsided and vomiting resolved. She received 10-12 mg twice a week for 4 weeks. Consolidation: 10-12 mg every week for 1 month and then every 2 weeks for 1 month. MRI brain repeated at the end of 3 months showed early features of leukoencephalopathy (due to MTX) although the leptomeningeal enhancement resolved completely. Repeat CSF analysis was normal. Hence further doses of intrathecal MTX withheld and she was continued on gefitinib alone. She is asymptomatic after 6 months of relapse.",
"gender": "Female"
},
{
"age": 71,
"case_id": "PMC4080668_02",
"case_text": "A 71-year-old male patient presented with us stage IV lung cancer due to pleural fluid cytology positivity. Initially, started on gefitinib empirically on which he had stable disease for 11 months. However, gefitinib was stopped due to altered liver function test. He progressed after stopping gefitinib hence started on gemcitabine and carboplatin. After six cycles, he had stable disease after which he was started on switch maintenance with pemetrexed. After three cycles of single agent pemetrexed patient developed excessive fatigue.\nOn clinical examination, he had bilateral ptosis, with normal third nerve function. He underwent CSF examination, which was positive for adenocarcinoma cells. Even this patient did not have brain parenchymal metastasis. He was started on erlotinib and weekly intrathecal MTX. He received 10-12 mg twice a week for 4 weeks. Consolidation: 10-12 mg every week for 1 month. His symptoms of drowsiness, altered behavior and ptosis and performance status gradually improved after that. However after 2 months, patient was lost to follow-up.\nBoth these cases highlight the way isolated CSF metastasis can occur in patients with lung cancer. Though brain parenchyma does not show parenchymal disease on imaging one should have a high index of suspicion and perform at least three CSF analyses if the clinical setting is appropriate. Furthermore, in patients with EGFR mutation positive lung cancer with isolated CSF metastasis, addition of tyrosine kinase inhibitor may lead to much improved outcomes. Importantly patients with CSF disease derive significant palliation in symptoms after intrathecal therapy as demonstrated in above cases.",
"gender": "Male"
}
] |
PMC4080668
|
[
{
"age": 42,
"case_id": "PMC8047179_01",
"case_text": "A 42-year-old male with no previous significant medical history presented to the emergency department with fever, excessive sweating, myalgia, malaise, headache, photophobia, neck stiffness and low back pain. The patient had been on camping trips in Vermont and western Massachusetts, most recently 3 weeks prior to his presentation. Symptoms later manifested as he developed profound weakness in his lower extremities, right side greater than left. He first noted slight difficulty in ambulation, which progressed to lower extremity weakness which prompted him to seek care.\nOn initial presentation he had a temperature of 101.1 F. Physical examination was notable for normal cognition. He had an unremarkable heart, chest and abdomen exam. On neurologic exam: speech was fluent, cranial nerves II through XII were intact. Bilateral upper extremity strength was 5 out of 5. Right lower extremity strength was 2 out of 5 and left lower extremity strength was 4 out of 5. Sensation was grossly intact. Achilles reflexes were 0-1 + bilaterally, patellar reflex 0 right, left patella 1 + . Gait testing showed him patient to be unstable, having trouble walking. Finger-nose-finger showed no signs of dysmetria or ataxia.\nInitial lab work showed normal leukocyte count, mild transaminitis, and lactic acidosis. His inflammatory markers including C-reactive protein and erythrocyte sedimentation rate were normal. Lumbar puncture revealed a lymphocytic pleocytosis with WBC of 155 per mm (0-5) (90 % lymphocytes (<65 %), 8% PMN (0-5 %)), RBC 13 per mm (0-5), protein 56 mg/dL (12-60), glucose 55 mg/dL (40-70). Infectious workup confirmed infection with WNV CSF PCR positive, CSF IGM positive (4.89, reference range < 0.90), positive serum IgM (3.03, <0.90) and, negative serum IgG (within the reference range <1.3). Additional work up was negative for HIV, Herpes simplex viruses, syphilis and Lyme.\nMRI of the lumbar spine demonstrated long segment increased intramedullary T2 signal extending from the conus medullaris to T10 with cord expansion but without enhancement, suggestive of longitudinally extensive transverse myelitis (LETM), a subset of ATM (Fig. 1).\nOnce a diagnosis of ATM secondary to the WNV had been confirmed the patient was managed symptomatically. A urinary catheter was required for our patient's acute urinary retention which resolved prior to discharge. He was discharged to an acute rehab facility where his symptoms continued to improve although some degree of weakness was still present at follow-up approximately 1 month later.",
"gender": "Male"
}
] |
PMC8047179
|
[
{
"age": 62,
"case_id": "PMC4836125_01",
"case_text": "This study involved a 62-year-old male who had undergone scleral buckling surgery 40 or more years ago for rhegmatogenous retinal detachment, as well as trabeculectomy 20 years ago for primary open-angle glaucoma in his left eye at another hospital. He presented to our hospital complaining of blurred vision in that eye. The patient reported that although the previous retinal reattachment surgery had resulted in a favorable outcome, he had experienced persistent conjunctival hyperemia, conjunctival edema, and low levels of ptosis during the subsequent recovery period. He reported that he had recently become aware of blurred vision in his left eye and subsequently consulted a local doctor. Upon examination at that facility, iritis and proliferating changes in the fundus had been identified in that eye, and he had been referred to our hospital.\nUpon examination, his visual acuity was 1.0 x S-3.5D C-1.5D A x 30 OD and 0.5p x S + 2.0D C-2.25D A x 160 OS, and his intraocular pressure was 20 mm Hg OD and 11 mm Hg OS. Iritis was observed in the anterior chamber of the left eye, as well as a great number of pigment cell keratoprecipitates on the posterior surface of the cornea (fig. 1). Minor cataracts were observed beneath the posterior capsule, and mydriasis was somewhat poor. In the ocular fundus of the left eye, extensive atrophy of the retinal pigment epithelium and partial hyperpigmentation were observed, accompanied by subretinal strands, yet the retina remained reattached. Around the entire peripheral area of the retina we observed a high, ring-shaped protrusion, but we also saw a shiny, filamentous material in the vitreous cavity that penetrated the sclera and choroid, completely extending from the 4- to 8-o'clock position of the protrusion (fig. 2). During a B-mode ultrasound scan, we observed a high-luminance image on the edge of the buckle protrusion with an acoustic shadow (fig. 3). We also observed slight opacity and inflammatory cells in the vitreous cavity. Thus, we diagnosed this patient as a case of intraocular erosion and intrusion by an Arruga suture, and for the iritis in the left eye we began to administrate low-concentration steroid eye drops, after which the inflammation disappeared. A previous doctor had performed a trabeculectomy on the left eye 20 years previously to treat primary open-angle glaucoma, and we recognized a filtration bleb in the upper part of the corneal limbus, but we saw no particular abnormalities in the middle optic media or fundus in the right eye.",
"gender": "Male"
}
] |
PMC4836125
|
[
{
"age": 40,
"case_id": "PMC9617715_01",
"case_text": "A 40-year-old female patient was involuntarily brought by the husband and mother with chief complaints of meditating for 14-18 hours a day, neglecting food, sleep, and self-care. She had stopped doing household chores and instead used to sit for hours together with her eyes closed while mumbling to self, since last 4 years. The patient was interviewed in an empathetic and nonjudgmental way to make her comfortable and share her story. She was introduced to a meditation guru who teaches transcendental meditation by one of her family friends. After that, the patient never met the guru. Though the guru instructed her to practice meditation in her free time for a limited duration (20 minutes twice per day), she gradually increased time spent on meditation from initial one hour to 14-18 hours. Later, she would watch videos related to meditation on television and Internet for the rest of her day. When asked, she told that she felt very much relaxed and felt a sense of detachment from her body and a great sense of pleasure when she meditated. Hence, she increased her time spent on meditation. When enquired about her mumbling behaviour, she told that she was talking to her guru whose voice she could only hear. The voice of her guru ordered her to practice the meditation throughout the day to activate inner chakras and get special powers. She would sit in her room and talk to the guru through \"telepathy\" according to the patient. She also reported that she got the power to see the future of others with her third eye, and she reported that meditation gave her these superpowers. On inquiry, she told that she can travel through time and space and can communicate with the aliens while meditating. She started speaking in gibberish manner saying that she was replying to aliens in their language. She also told that few aliens were following her in the form of humans from the last few years. On further probing, she stated that those were bad aliens who came to kidnap and harm her.\nWhen questioned about her reduced sleep, food intake, and her poor self-care, she told that meditation itself keeps her healthy, fit, and clean. She was refusing to have sex with her husband and was demanding for divorce. When questioned about this, she answered that she had a special bonding with her guru and she considers her guru as her \"soul mate.\" She could perceive \"the signals\" from her guru who stays away from her, as her soul meets with the soul of her guru in universal space and she equated this to sex between their souls. She was physically aggressive towards her family members if they asked her to stop meditating. She stopped attending any social gatherings saying people will steal her powers if she goes out of the house. The course of the illness was insidious in onset and continuous and progressive in nature. The patient was reluctant to consult any mental health professional, so she was brought forcefully.\nShe had no past history of significant psychological or medical illness. Her mother and maternal uncle were diagnosed with unspecified psychoses and received treatment in the past. Premorbidly, the patient was well adjusted. She was a graduate and used to work as a primary school teacher till 4 years back. She got married at the age of 25 years and has 2 kids. She used to take care of the family and kids before the onset of the illness. Her husband works as a government employee, and their relationship was cordial before the onset of the illness as per the husband.\nOn examination, the patient was malnourished and unkempt. She was continuously muttering to herself throughout the interview. Her speech was disorganized sometimes. She reported perceptual experiences like auditory hallucinations, telepathy, and clairvoyance. In thought content persecution, grandiosity and magical thinking were found. Her test and personal judgment were impaired. She had no insight into her illness. Provisionally, she was diagnosed with schizophrenia as per Diagnostic and Statistical Manual of Mental Disorders 5th edition (DSM5). She scored 78 on Brief Psychiatric Rating Scale (BPRS) and 6 (severely ill) on the Clinical Global Impression-Severity (CGI-S) Scale. Her responses on the Rorschach inkblot test were suggestive of schizophrenia. Her blood investigations were unremarkable except for low hemoglobin. She refused using any psychotropic substances, and her urine drug screen was negative for any drugs. Computerized tomography (CT) of the brain revealed no abnormality.\nShe was admitted to the hospital and started on tablets olanzapine, lorazepam, and iron supplementation. As the patient was very much symptomatic, she refused to take medication and food. Six sessions of modified electroconvulsive therapy (M-ECT) were given. The patient showed improvement and started to accept food and tablets. She was discharged after 20 days from the hospital. The patient was stabilized on 15 mg of oral olanzapine. Her BPRS score came down to 32 and CGI-S score to 3 at the time of discharge. She was advised to refrain from any kind of unguided meditation. Family members of the patient were doubtful about the compliance with treatment at home. She was shifted to olanzapine depot injection and currently receiving 405 mg of olanzapine palmitate on monthly basis and maintaining well with regular follow-ups.\nOn Naranjo's scale, the patient had scored 5 indicating \"probable role\" of meditation in causing psychosis.",
"gender": "Female"
}
] |
PMC9617715
|
[
{
"age": 45,
"case_id": "PMC8502108_01",
"case_text": "Our study included 10 patients, including 5 women and 5 men, aged 1 to 45 years old. The course of the disease ranged from 3 days to 30 days (Table 1). Patients 3, 4 and 7 did not receive any treatment before the initial visit. The effect of external antibiotic ointments on the other patients before their first visit was not satisfactory. \nPatients 1 and 2 achieved PR 2 days after one fire needle therapy and achieved SR 1 week later due to their smaller skin lesion and early onset. Patients 4 and 8 received fire needle therapy twice because of more pus, achieving SR and CR at 1 and 2 weeks, respectively, after treatment. Except for patient 4, who achieved SR 1 week after treatment due to a longer medical history, other patients with abscesses measuring less than 4 cm in diameter all achieved CR 1 week after treatment (Tables 2 and 3). Representative images are shown in Figure 1A, B, D-F. All patients had no recurrence within the 12 weeks after treatment. There was no reported recurrence in patient 4 after a 1-year follow-up post-fire needling. \nAll treatments were well tolerated, with patients complaining of moderate pain at most that quickly subsided after a fire needle intervention.",
"gender": "Unknown"
}
] |
PMC8502108
|
[
{
"age": 41,
"case_id": "PMC10010872_01",
"case_text": "A 41-year-old male presented to the emergency department of a regional Australian hospital with sudden onset severe chest and abdominal pain. On arrival, the patient was haemodynamically stable, but became rapidly unresponsive with oxygen saturations of 85%, tachycardia to 140 beats per minute, unrecordable blood pressure, and a Glasgow Coma Scale of 8 (eyes 3 points, voice 1 point, and motor 4 points). Bedside, ultrasound scan yielded intra-abdominal free fluid in the left upper quadrant. The patient was resuscitated sufficiently to allow prompt computerized tomography (CT) angiogram. He had no history of trauma, falls, pancreatitis, or known hypertensive crisis, and no knowledge of any previous aneurysms.\nCT angiogram demonstrated a large left upper quadrant intraperitoneal and retroperitoneal haematoma with dense peritoneal free fluid consistent with hemoperitoneum (Figure 1). A splenic artery aneurysm at least 28 mm x 16 mm was seen with active contrast extravasation (Figure 2).\nIn our regional centre, there are no interventional radiology or endovascular services available; hence, the patient underwent emergency laparotomy where a 2 L hemoperitoneum was evacuated. The bleeding splenic artery aneurysm was approached via division of the gastro colic omentum and reflection of the stomach superiorly to allow exposure of the lesser sac. This allowed adequate visualisation of the length of the splenic artery and the ruptured aneurysm mid-way along the artery was easily seen. Following this exposure, control of the splenic artery vessel at two points was achieved via suture ligation: the splenic artery proximal to the aneurysmal sac and distal to the aneurysmal sac were both secured, resulting in ligation of the artery at these two points. This was sufficient to achieve haemostasis. Due to the exposure technique via division of the gastro colic omentum, the short gastric and left gastro epiploic arteries were undisturbed and left intact allowing collateral circulation to the spleen to persist despite ligation of the splenic artery. Perfusion to the spleen appeared preserved and splenectomy was not required to be performed.\nThe patient was admitted to the intensive care unit postoperatively for monitoring and made an unremarkable recovery. A surgical drain placed into the left upper quadrant of the abdomen at the time of operation had minimal output with no evidence of ongoing bleeding and was able to be removed day 2 postoperatively. On post-operative day 3, the patient remained very well and was fit for discharge home after an ultrasound scan confirmed continuing splenic perfusion and organ viability, though noted some surrounding residual haematoma. Three weeks postoperatively, the patient remained well and underwent surveillance CT angiogram, which confirmed ongoing sufficient collateral perfusion of the spleen and viability of the organ, with a resolving peri-splenic haematoma also seen (Figure 3). The differential diagnosis for the cause of the peri-splenic haematoma includes inadequate evacuation of haematoma at time of operation, iatrogenic damage to collateral vessels resulting in minor bleeding postoperatively, or inadequate control of the splenic artery. The post-operative drain had minimal output and the haematoma was reduced in size on repeat imaging; therefore, inadequate evacuation of an already formed clot from the time of operation is the most likely cause. At review 6 months post-procedure, the patient remained well with no latent complications.",
"gender": "Male"
}
] |
PMC10010872
|
[
{
"age": 56,
"case_id": "PMC6350572_01",
"case_text": "A 56-year-old man with a history of dyslipidemia, multiple transient ischemic attacks (TIAs), and a 40 pack-year smoking history presented to the local hospital with sudden left-sided weakness, slurred speech, and left facial droop. His family history was significant for stroke and diabetes in multiple family members. He was on atorvastatin for dyslipidemia. He had no history of connective tissue or autoimmune disease. He was diagnosed with acute ischemic cerebrovascular accident and was given tissue plasminogen activator (tPA). The patient received a single dose of atorvastatin 80 mg and aspirin 325 mg orally during the admission; he never received clopidogrel or ticlopidine therapy. The symptoms improved gradually, but he developed thrombocytopenia that worsened over the next few days. The team discontinued statin and aspirin therapy once they observed low platelets. The patient was managed conservatively, but his platelet counts reached a nadir at 16,000 per cubic mm. His peripheral blood smear showed no schistocytes in high-power fields. He was given a platelet transfusion with no improvement. He was then transferred to our hospital, and the inpatient hematology team was consulted. At the time of presentation, the patient complained of clumsiness in his left arm, although he was able to carry out daily activities with minimal difficulty. He was stable, the facial droop had resolved and speech slightly improved with residual dysarthria and expressive aphasia, and his motor power was better. A review of outside laboratory results revealed that 2 days before his transfer, his platelet count was 115,000 per cubic mm, BUN was 16, and his creatinine was 1.3. His initial lab values on arrival at our hospital were as follows: platelets 26,000 cells per cubic mm, hemoglobin (Hb) 10.7 g/dl, hematocrit (Hct) 31.2/L, leucocytes 16,300 cells per cubic mm, blood urea nitrogen 35, blood urea nitrogen/creatinine 27, lactic acid dehydrogenase of 794 (98-192), bilirubin 0.9, and reticulocyte count 2.8. During admission, B12 and folic acid levels, antiphospholipid panel, disseminated intravascular coagulation panel, coagulation panel, antinuclear antibodies, and rheumatoid factor were measured and found to be within normal limits. HIV, hepatitis B, and direct Coombs tests were negative. However, his peripheral blood smear showed 5-6 schistocytes/high-power field. Neither the patient nor his family members underwent any screening for connective tissue or autoimmune disorders.\nThe patient was immediately started on a daily total plasma exchange (TPE). On day 3, his neurological symptoms improved significantly, and his platelet count normalized to 167,000 per cubic mm. Despite the improved platelet count, TPE was continued for 2 more days. By day 5, his speech was clear and his expressive aphasia resolved. He recovered full strength in his right extremities and TPE was stopped. Blood samples were sent to the Blood Center of Wisconsin, Milwaukee, for measurement of ADAMTS13 levels, and we got the results 5 days later. ADAMTS13 activity measured using FRETS-VWF73 substrate was <5% (reference range >=67%). ADAMTS13 inhibitor was measured using mixing studies with standard pooled plasma, and residual ADAMTS13 activity measured using FRETS-VWF73 substrate was <0.4 inhibitor units (reference range <=0.4). Platelet count remained stable throughout the patient's stay. At the time of discharge, his counts and Hb/Hct remained stable, lactate dehydrogenase (LDH) was 249, and no schistocytes were present in peripheral blood smears. Because of his atypical presentation of TTP, he was advised to seek medical attention immediately if his neurological symptoms worsen to evaluate TTP relapse. After discharge, he was evaluated twice weekly with a CBC and LDH measurements after discharge for 2 weeks and once a week afterward. Higher levels of LDH were noticed subsequently normalized in 2 months. He complained of intermittent left facial numbness and tingling of the left hand during follow-up visits. The patient remained in remission without a relapse for 2 years after his initial presentation.",
"gender": "Male"
}
] |
PMC6350572
|
[
{
"age": 86,
"case_id": "PMC10020938_01",
"case_text": "An 86-year-old woman was referred to us for a tumor on the right upper eyelid that had increased in size over a period of 4 weeks. A 12 x 10 x 7 mm nodule with good mobility to the lower bed was recognized (Fig. 1a). A skin biopsy from the tumor showed papillary proliferation of squamous epithelium and nucleoli enlargement; however, there were no findings of malignancy, making a definitive diagnosis difficult. Although the tumor showed a shrinking trend after skin biopsy, the tumor remained (Fig. 1b); therefore, total resection with a 1-mm margin was performed. The clinical findings and course were typical of keratoacanthoma; however, the histological findings of the excised tumor showed a seborrheic keratosis-like appearance with hyperplasia of the epithelium with a high nuclear/cytoplasmic (N/C) ratio accompanied by the formation of pseudokeratocysts (Fig. 1c).",
"gender": "Female"
},
{
"age": 79,
"case_id": "PMC10020938_02",
"case_text": "A 79-year-old woman was referred to us for a tumor on the right lower eyelid that had increased in size over a period of 4 weeks. An 8-mm-sized dark purple nodule with central keratinization was detected (Fig. 1d). The clinical findings showed suspected keratoacanthoma. The histology of the biopsy showed pseudokeratinocyst formation in the epidermis and inflammatory cells consisting mainly of mononuclear cells in the upper dermis, which was suspicious of seborrheic keratosis (Fig. 1e).",
"gender": "Female"
}
] |
PMC10020938
|
[
{
"age": 44,
"case_id": "PMC3356992_01",
"case_text": "A 44-year-old woman was referred to an orthopedic clinic in a city hospital, complaining of low back pain (LBP) of several years duration. Her severe sciatalgia had exacerbated since 6 months before admission. The diagnosis of L5/S1 disc herniation compressing S1 root on the left side was made and she underwent operation. It was a no-contrast standard lumbosacral magnetic resonance imaging (MRI). At operation, L5 and partial S1 laminectomy followed by bilateral S1 foraminotomy, and bilateral L5/S1 discectomy was performed. Two weeks after the operation, the patient's symptoms exacerbated and paresthesia appeared in the left buttock. Paresthesia of the perineal region and urinary incontinency were also added to her previous complaints. On admission to our department, the muscle forces of the lower limb were intact both proximally and distally, but pin prick sensation was disturbed in S1, S2, and S3 dermatomes, and Achilles tendon reflex was absent in the left side. However, anal sphincter tone was intact. Re-evaluation of the previous preoperative lumbosacral MRI revealed that in addition to the L5/S1 bulged disc, there was an extradural dorsally located mass at S1, S2, and S3 levels. The new contrast-enhanced MRI revealed a 3 x 2 x 2 cm extradurally located tumor, extending from lower edge of S1 down to S2/S3 interspace. The tumor was hypointense in both T1 and T2 images and enhanced homogenously after contrast material injection. Scalloping of the posterior aspect of the S2 vertebra was also detectable [Figure 1a-d]. In the second operation, the previous laminectomy was extended from lower edge of L5 down to S3. A reddish gray tumor located in the extradural space, extending from S1 root axilla down to the S3 root, could be excised totally. There was neither tumor invasion to the dura or intradural space, nor any bone involvement detectable under microscopic observation. Histopathologic examination revealed a highly cellular neoplasm composed of diffuse sheets of tumor cells having monomorphic, round to oval, finely vesicular nuclei and occasional nucleoli with indistinct cytoplasmic border. Delicate fibrovascular septae surrounded the tumor mass along with intra tumoral extensions. In some foci, tumor cells gathered in groups around small vessels (pseudo-rosette appearance). There were nerve bundle entrapments within the tumor nests. Several groups of mitotic figures were noted, but no necrosis was detected [Figure 2a and b].\nImmunohistochemical (IHC) staining showed that the tumor cells stained positively for neuron-specific enolase, synaptophysin, and chromogranin, suggestive of neuronal differentiation of the tumor. Tumor cells also expressed CD99, consistent with the diagnosis of ES/PNET [Figure 2c]. Ki-67 proliferative index showed about 10-15% proliferative activity. Other markers such as leukocyte common antigen (LCA), epithelial membrane antigen (EMA), cytokeratin (CK), desmin, smooth muscle actin (SMA), and myogenin were negative. Fluorescence in situ hybridization and chromosomal study were not performed.\nThe postoperative course was uneventful and all her symptoms including radicular pain and sphincter problems improved rapidly. The patient was referred for radiotherapy as the adjuvant therapy. In the last re-evaluation of the patient after 18 months, there was no sign of tumor recurrence in MRI.\nAfter our wide search using Tehran University of Medical Sciences electronic resources (www.tums.ac.ir) and motor searches of Pubmed, Ovid, and EBSCO using the key words, spinal primitive neuroectodermal tumor and spinal extraskeletal Ewing sarcoma, 106 abstracts were found in the form of case series and case reports, which reported 141 cases of primary intraspinal EES/pPNET. Full texts of all the articles were collected from different electronic and paper archives including English, French, Spanish, and Italian articles. The earliest articles were published by Smith et al. and Tefft et al. in 1969 and the latest by Gollard et al. in Feb 2011. Patients' information including age, sex, clinical signs and symptoms, duration of symptoms, family history, location of the tumor, metastasis, recurrences, therapeutic methods, duration of follow-up, and eventual outcome were all extracted from resources. As the articles were reported from various clinical departments (e.g. Neurosurgery, Orthopedics, Radiology, Oncology, Pathology, Pediatrics), different aspects of the disease were reviewed in each, and this led to neglecting some other aspects resulting in missed values regarding some subjects. In some of them with missing data about the mode of therapy, final outcome, or follow-up of the patients, the authors were contacted via e-mail directly for the required information. In spite of sending e-mail to 20 authors, only one reply was received.\nAfter collecting and classifying the information, the data were analyzed utilizing SPSS version 13.0.\nFor analysis of the numeric variables such as age, Kolmogorov-Smirnov test was used to evaluate normal distribution of the data upon which we could decide to utilize parametric versus non-parametric tests to compare the data. Chi-square test (chi2) was used when comparing two nominal or ordinal variables such as 1-year survival in patients receiving different therapies. Independent sample t-test was used to evaluate numerical variable among two populations (e.g. age in different subgroups). P-values less than 0.05 were considered statistically significant.",
"gender": "Female"
}
] |
PMC3356992
|
[
{
"age": 63,
"case_id": "PMC5477857_01",
"case_text": "The donor was a 63-year-old female patient with end-stage bilateral heart failure due to ischaemic heart disease, considered for listing for heart transplantation. The patient met all indication criteria, apart from an exceedingly high fixed pulmonary hypertension. A biventricular pulsatile assist device (Thoratec PVAD, Thoratec Corporation, Pleasanton, CA) was implanted in a biventricular fashion in order to reduce the pulmonary resistance to measures matching the criteria for subsequent heart transplantation. Anticoagulation therapy, required due to the implanted mechanical circulatory support (MCS), was established with warfarin (INR 2.0-2.5). The patient's previously deteriorated renal function improved after biventricular assist device implantation (serum creatinine 1.87 mg/dL 0.97 mg/dL and GFR 29 mL/min 62 mL/min). Thirty-five days after surgery, the patient complained of a sudden onset of severe headache and coma rapidly developed. Despite a moderate level of anticoagulation at the time of the event (INR 2.1), CT scan verified a vast haemorrhagic stroke in the left cerebral hemisphere with propagation to the cerebral ventricular system and malignant brain oedema. In view of the lethal neurological prognosis, organ donation was taken into consideration, as the patient had a relatively well-preserved function of other organs because of adequate circulatory perfusion. Having received negative brain perfusion at the angiography, after laparatomy and perfusion with 2000 mL of UW solution, a bilateral transabdominal nephrectomy was performed and the kidneys were shown to be suitable for transplantation. The MCS was maintained for the duration of the kidney procurement and thus the procedure was performed under the same conditions as a normal beating heart. At that time, the patient's kidney function was satisfactory (Cr 0.97 mg/dL, GFR 62 mL/min). The backtable wedge kidney biopsy showed acute tubular necrosis along with mild benign nephrosclerosis with focal interstitial fibrosis and tubular atrophy of both kidneys (Figure 1). The allocation of these kidneys to recipients over 60 years old was suggested. Prior to surgery, both kidney transplant recipients were informed about the possible limitations and signed informed consent.",
"gender": "Female"
},
{
"age": 62,
"case_id": "PMC5477857_02",
"case_text": "The recipient of the left kidney was a 62-year-old female with end-stage renal failure due to tubulointerstitial nephritis, who had undergone chronic haemodialysis therapy for 2 years. The surgery was complicated with the external iliac endarterectomy. Since acute tubular necrosis was suspected, a polyclonal antithymocyte globuline single shot (ATG-Fresenius S, Fresenius Biotech GmbH, Grafelfing, Germany, 9 mg/kg) prior to reperfusion was given, followed by mycophenolate mofetil and steroids. Cyclosporine A was delayed until Day 6. On Day 14, a renal biopsy was performed (Figure 1) that confirmed mild regenerating acute tubular necrosis and transfer of mild benign nephrosclerosis without any evidence of acute rejection. The patient was discharged on Day 16 with stable renal function (Cr 2.17 mg/dL, GFR 24 mL/min).\nThree months after transplantation, a routine protocol biopsy was performed. Light microscopy demonstrated normal histological findings (Figure 1). Twelve months after transplantation, the patient's kidney function remains stable (Cr 1.88 mg/dL, GFR 29 mL/min).",
"gender": "Female"
},
{
"age": 63,
"case_id": "PMC5477857_03",
"case_text": "The recipient of the right donor kidney was a 63-year-old female with end-stage renal failure due to chronic glomerulonephritis, who had undergone haemodialysis for the previous 8 months. An ATG-Fresenius single shot (9 mg/kg) prior to reperfusion was administered and followed by tacrolimus (0.2 mg/kg/day), mycophenolate mofetil (2 g b.i.d.) and prednisone (20 mg) since the peristaltic was noted. Despite the immediate use of tacrolimus due to higher frequency of PRA (48%), a kidney graft function was observed from the first postoperative day.\nA biopsy performed on Day 14 revealed regenerating acute tubular necrosis and a transfer of mild benign nephrosclerosis without any evidence of acute rejection (Figure 1). The patient was discharged on Day 18 with a satisfactory renal function (Cr 1.79 mg/dL, GFR 30 mL/min) and having received lower tacrolimus exposure (trough blood level 6.7 ng/mL). At 3 months after renal transplantation, the graft had an excellent graft function (Cr 1.51 mg/dL, GFR 37 mL/min) and a routine protocol biopsy was performed. Light microscopy revealed only a transfer of benign nephrosclerosis (Figure 1). At 12 months after transplantation, an excellent kidney graft function was observed (Cr 1.41 mg/dL, GFR 40 mL/min).\nOver the last decade, MCS has become a relevant and effective option in the treatment of end-stage heart failure patients as bridge-to-transplantation, or as a permanent solution known as destination therapy. In the long term, this method diminishes the adverse processes connected with low cardiac output syndrome, by restoring adequate systemic and organ perfusion and reducing pulmonary vascular resistance.\nRecently, an extended donor criteria pool program has been widely used in both the United States and Europe to solve the progressive disparity between the increasing number of patients waiting for kidney transplantation and a limited donor pool. The use of more and more marginal donors for kidney transplantation and transplantation from donors after cardiac death has often failed to give optimal results in the long term. An MCS device which mediates well-perfused organs in deceased donors might be considered as acceptable for transplantation in the context of an organ shortage. In contrast to successful kidney recovery in a donor after cardiac death, treated previously with a left ventricular assist device, we here present a satisfactory 1-year follow-up of kidneys transplanted from a brain-dead heart transplant candidate, treated during the kidney removal with a biventricular assist device. Because of the increasing usage of mechanical circulatory support in the treatment of terminal heart failure with the risk of fatal complications, we encourage transplant professionals to consider such donors to be suitable for kidney donation.",
"gender": "Female"
}
] |
PMC5477857
|
[
{
"age": 3,
"case_id": "PMC10141254_01",
"case_text": "A 3-year-old neutered domestic shorthair cat was referred for a nodular dermatitis that had appeared 2 months previously. The cat lived in southwest France but had spent several months in the Central African Republic when it was 1 year old. The cat had access to the outdoors, and its owner reported regular fights with other cats. About 18 months previously, the cat had been diagnosed with idiopathic immune-mediated haemolytic anaemia and thrombocytopenia (IMHA/IMT) but had been relatively stable for the past 10 months on oral ciclosporin (Atopica chat 100 mg/ml; Elanco) at a dosage of 7.4 mg/kg q24h and oral prednisolone (Prednicortone 20 mg; Dechra) at a dosage of 2.5 mg/kg q48h. The cat had recently developed one nodule on the lateral carpal of the right foreleg. The lesion was 7 mm in diameter, cutaneous to subcutaneous, pigmented, soft, haired, non-painful and non-productive (Figure 1). This lesion was reported to have grown slowly, without disturbing the cat. No other dermatological or clinical abnormalities were observed.\nThe history (immunocompromised cat with access to the outdoors) and clinical features were most consistent with the hypotheses of a cutaneous/subcutaneous infection (pseudomycetoma, leprosy syndrome, other opportunistic mycobacteria, phaeohyphomycosis, hyalohyphomycosis, eumycotic mycetoma, cryptococcosis, sporotrichosis, poxvirus infection, leishmaniosis), neoplasms (melanoma, haemangioma, feline progressive histiocytosis, mastocytoma) and, less likely, sterile granuloma.\nFine-needle aspirates were taken from the nodule, and smears were May-Grunwald-Giemsa stained. Cytological examination revealed damaged inflammatory cells suggestive of neutrophils and the presence of multiple pigmented fungal elements, leading to a diagnosis of phaeohyphomycosis without precise identification of the fungal species involved (Figure 2).\nSurgical excision was proposed as part of the therapeutic regimen, and also to provide material for histological examination and mycological culture, and was accepted by the owner. On the day of the surgery, 1 month after the initial presentation, the nodule was slightly larger (approximately 1 cm in diameter), and a pigmented plaque-like lesion had appeared between the eyes (Figure 3). Complete excision of the limb nodule and a 4 mm punch biopsy of the plaque were performed under general anaesthesia. Oral itraconazole (Itrafungol; Virbac) at a dosage of 10 mg/kg q24h was started on the same day.\nMicroscopic appearance was similar for both lesions and was characterised by diffuse, superficial and deep dermal (Figure 4a,b) histiocytic, lymphocytic and, to a lesser extent, neutrophilic infiltrate, with numerous spherical elements, measuring 3-20 microm in diameter, often isolated or with narrow-based buds, surrounded by a basophilic capsule (Figure 4c). Periodic acid-Schiff staining revealed that the elements were positive (Figure 4d). The margins of the nodule appeared to be free of fungal elements.\nThe fungus was cultured on Sabouraud dextrose agar plates complemented with 0.5 g/l chloramphenicol for 11 days at 27 C and 37 C and yielded colonies of a black yeast-like fungus (Figure 5). The fungus was identified through macroscopic and microscopic observations, confirmed by mass spectrometry (matrix-assisted laser desorption/ionisation-time of flight mass spectrometry) and molecular biology. Mass spectra were acquired after complete protein extraction using a Microflex LT/HS (Bruker Daltonik) and matched against the online application MSI-2 (https://msi.happy-dev.fr). The species E spinifera was identified by mass spectrometry. Confirmation was obtained using Sanger DNA sequencing of internal transcribed spacer regions. The DNA sequence was compared with sequences in the NCBI GenBank database using the Basic Local Alignment Search Tool. The best match (99.8% identity) was with E spinifera, strain CNRMA6.306 (GenBank accession number KP132129.1). The sequences have been deposited in Genbank (accession number OQ466703).\nTo investigate the antifungal susceptibility of the isolate, minimal inhibitory concentrations (MICs) were identified using the concentration gradient band (E-test; Biomerieux). The tests showed sensitivity to voriconazole, posaconazole, itraconazole and amphotericin B (MIC 0.023 microg/ml, 0.008 microg/ml, 0.006 microg/ml and 0.19 microg/ml, respectively) and resistance to fluconazole (MIC 24 microg/ml). Based on these results, itraconazole was maintained.\nAt the 8-week follow-up evaluation, the excisional wound had completely healed and no relapse was visible. Clinical resolution of the non-excised facial lesion was observed. Itraconazole was continued for six more weeks and stopped. Immunosuppressive therapy (ciclosporin and prednisolone) was continued to prevent relapse of IMHA/IMT.",
"gender": "Unknown"
}
] |
PMC10141254
|
[
{
"age": 25,
"case_id": "PMC3279504_01",
"case_text": "A previously healthy 25-year-old-Asian woman was referred for evaluation of an enlarging, painless, subcutaneous mass located intergluteal fold. It was clinically diagnosed as a pilonidal cyst by previous examiner. She could remember that a mass had been present in this region for 2 years. During the 2-year period the mass had slowly increased in size from less than 0.5 cm to over 2.5 cm in diameter. During the past few months, the mass had become tender and sometimes making it uncomfortable to sit down. There was no history of urinary or faecal problems. Physical examination revealed a 2 x 3 cm sized, solid, mildly tender, mobile mass over the coccyx. It was well circumscribed proximally but not in distally on palpation. Neurological examination was normal.\nMagnetic resonance imaging (MRI) revealed a 6 x3 cm well-circumscribed subcutaneous mass located over the coccyx. This tumor was comprised of two ovoid mass and there was no direct invasion to the coccyx (Fig. 1). Ultrasonography (USG)-guided needle biopsy was performed and microscopic examination showed a myxopapillary ependymoma. Computed tomography (CT) scanning of the thorax and abdomen demonstrated no evidence of lung or liver metastases. Isotope bone scanning revealed no evidence of skeletal metastases.\nThe mass was completely excised. Intraoperatively, the lesion was seen near the tip of the coccyx and well-circumscribed. It was composed of two ovoid but contiguous masses, the larger 3.0 x 2.5 x 1.5 cm, and the smaller 1.2 x1.0 x0.8 cm (Fig. 2). The histology of the specimens again confirmed a myxopapillary ependymoma (Fig. 3). Her postoperative course was uneventful and no adjuvant therapy was offered.\nDuring 2 years of follow-up no local recurrence or metastasis were detected, with chest radiography and abdomino-pelvic MRI (Fig. 4).",
"gender": "Female"
}
] |
PMC3279504
|
[
{
"age": null,
"case_id": "PMC5894322_01",
"case_text": "Our institutional review board does not require approval publishing case reports. Written informed consent was obtained from the patients for all the procedures. A 24-year male who was a prospective liver donor for his mother was referred to us for percutaneous LB. The indication of LB was a suspicion of parenchymal liver disease, as suggested by the widening of inter-lobar fissure of liver on contrast-enhanced computed tomography (CT) examination [Figure 1A and B], which also showed normal portal veins [Figure 2A and B]. Ultrasound-guided plugged liver biopsy was planned under local anesthesia. Baseline platelet count was 389 x 109/L, hemoglobin level was 14.3 mg/dl, and prothrombin time and INR were 13.0 s and 1.01, respectively. Local anesthesia was administered by infiltration of 10 ml of 2% xylocaine hydrochloride. A Quick-core biopsy needle set (Cook, Bloomington, IN, USA) containing coaxial needle (16 Gauge, 12 cm long) and core biopsy needle (18 Gauge, 15 cm long with 2 cm specimen notch) was used to obtain tissue core. The coaxial needle was inserted from the right intercostal approach. Through the coaxial needle, the biopsy needle was inserted and a single tissue core was obtained. The biopsy needle was removed while the coaxial needle was left in place. This was followed by the injection of gelfoam (Spongostan standard, Ferrosan, Denmark) slurry through the coaxial needle to plug the parenchymal track under real-time ultrasound guidance. Post biopsy, the patient was asked to lie on his right side for approximately 4 h. Later, the patient was discharged after a routine screening ultrasonography, which was unremarkable. Two weeks later, the patient presented with mild right upper quadrant pain. Ultrasound of the abdomen revealed echogenic thrombus completely occluding the right portal vein [Figure 3A]. Contrast-enhanced CT scan of upper abdomen confirmed right portal vein occlusion [Figure 3B and C]. The patient was started on oral antiplatelets and anticoagulants for 1 week, however, there was no resolution of the thrombus on repeat ultrasound and Doppler scan. Because the donor was symptomatic with thrombus in subacute stage, percutaneous endovascular intervention appeared to be the best option for his treatment.\nUnder ultrasound guidance, percutaneous puncture of the left portal vein was done using a 22-gauge micropuncture needle. Using NEFF set (Cook, Bloomington, IN, USA), a 0.035\" J tip guide wire was introduced into the portal vein and exchanged for a 5F KMP catheter (Cook, Bloomington, IN, USA). Digital subtraction angiogram (DSA) of the portal system was obtained which also confirmed the right portal vein occlusion [Figure 3D]. Using multi-sideport catheter infusion set (Cook, Bloomington, IN, USA), urokinase bolus (50,000 units) were given in a pulse spray method. A check angiogram revealed unsatisfactory results. A continuous infusion of urokinase (30,000 units/h) was started for the next 24 h. Repeat angiogram next day showed restoration of the blood flow in the right portal vein [Figure 4A and B]. The procedure ended with coil embolization of the liver parenchymal track to reduce the chances of hemorrhage.\nA through work-up of coagulation disorders [Table 1] revealed a raised homocysteine level (32.2 mumol/l (normal range, 5-15 mumol/L). The biopsy report revealed a normal liver histology which ruled out any parenchymal liver disease.",
"gender": "Male"
}
] |
PMC5894322
|
[
{
"age": 72,
"case_id": "PMC10083011_01",
"case_text": "In December 2004, a 72-year-old female was diagnosed with a stage IIIC (pT2bN3), BRAF V600E mutant, cutaneous melanoma of the left thigh, and was treated with a wide local excision and a left inguinal-iliac-obturator lymph node dissection, after a positive sentinel node biopsy. She entered a follow-up program that was negative until September 2007, when a restaging computed tomography (CT) scan identified disease recurrence at the left popliteal and iliac metastatic lymph nodes, with normal Lactate Dehydrogenase levels. In October 2007, the patient was evaluated at our Center for Immuno-Oncology at the University Hospital of Siena, Italy, for enrollment in a randomized, double-blind, Phase III trial (BMS CA184024), comparing ipilimumab 10 mgs i.v. combined with dacarbazine (DTIC) 850 mg/mq i.v. versus DTIC alone, in untreated MM patients. Due to evidence of autoimmune thyroiditis, the patient did not meet the study protocol eligibility criteria and received DTIC 800 mg/mq i.v. every 3 weeks in combination with Thymosin-alpha (4 cycles), within an Expanded Access Program (EAP).\nIn April 2008, due to evidence of progressive disease (PD) of the pre-existing metastatic lesions, the patient was enrolled in the randomized, open-label, Phase II, BMS CA186-006 (NCT00612664) clinical trial and received the CD137 agonist mAb, urelumab, at 1 mg/kg i.v. every 3 weeks (10 cycles) until November 2008, without treatment-related side effects. Nevertheless, treatment had to be discontinued for the premature study closure due to two fatal cases of drug-related hepatic toxicity. Despite early treatment discontinuation, the patient achieved complete response (CR) in May 2009, 6 months after the last dose of urelumab, as shown by a CT scan (Figure 1). Importantly, she remained in CR for more than 4 years.\nIn December 2013, a control [18F] fluorodeoxy-glucose positron emission tomography (FDG-PET) scan revealed a right inguinal metastatic lymph node and a left thigh subcutaneous metastatic lesion; thus, the patient received standard third-line therapy with ipilimumab (3 mgs) i.v. every 3 weeks (4 doses). Therapy was well tolerated, except for a treatment-related (TR)-grade (G) 2 skin toxicity and TRG2 diarrhea, treated with symptomatic therapy and low dose steroids (ie, prednisone 25 mg/die) for 3 weeks, slowly tapered with rapid improvement of side effects. Tumor assessment (TA) performed by FDG-PET scan at week 12 showed a mixed response consisting of a partial regression of the right inguinal node and a progression of the left thigh subcutaneous lesion. Thus, the patient had achieved stable disease (SD) as per immune-related Response Criteria (irRC) and PD as per Response Evaluation Criteria in Solid Tumors (RECIST) v. 1.1 (Figure 2). However, the subsequent TA at week 24, confirmed PD according to RECIST v. 1.1 and irRC criteria (data not shown).\nBased on the confirmed PD, in October 2014 the patient received fourth-line therapy with the anti-PD-1 pembrolizumab (2 mgs) i.v. every 3 weeks within an EAP, achieving a new CR at week 24 of therapy (Figure 3). Treatment was well tolerated with evidence of TRG1 arthralgia and TRG1 fatigue after the 4th cycle and TRG1 diarrhea after the 10th cycle, which resolved with symptomatic therapy.\nIn August 2017, due to the durable CR and to the patient's desire, treatment with pembrolizumab was permanently discontinued. The last FDG-PET scan performed in December 2022 confirmed CR lasting 91+ months.",
"gender": "Female"
}
] |
PMC10083011
|
[
{
"age": 73,
"case_id": "PMC8326275_01",
"case_text": "A 73-year-old man with a history of chronic obstructive pulmonary disease (COPD) for more than 10 years, he regularly inhaled salmeterol/fluticasone propionate (50microg/500microg) twice a day. He had 30 pack-years of smoking history and quit smoking for more than 10 years. He was a farmer by profession. He was admitted to hospital with cough and hemoptysis for more than five months.\nAdmission blood tests showed a white cell count of 5.8 x 109/L, C-reactive protein 3.1 mg/L and interleukin-6 16.32pg/mL. All of sputum smear acid-fast staining, tuberculin test and tuberculosis antibody test were negative. Serum biomarkers of lung cancer, such as carcinoembryonic antigen (CEA), Cytokeratin-19-fragment (CYFRA21-1), squamous cell carcinoma antigen (SCC), and neuron-specific enolase (NSE) were negative.\nThe images of computed tomography (CT) scan of the chest revealed large dense shadows and cavity formation in the inferior lobe of the left lung (Figure 1A). The electronic bronchoscopy showed a big and white neoplasm in the lower left lung, with a narrow opening and a lot of white necrotic material in the subsegment (Figure 2). Biopsy revealed chronic inflammation of endobronchial membrane with lymphoid follicular hyperplasia, but without any definite tumor cells (Figure 3). Acid-fast staining and Periodic Acid-Schiff (PAS) staining were both negative. Not only the traditional culture (including aerobic and anaerobic) but also the galactomannan (GM) test of bronchoalveolar lavage fluid were negative. Surprisingly, the mNGS of bronchoalveolar lavage fluid revealed 4415 sequences of Campylobacter rectus and 1091 sequences of Parvimonas micra.\nEmpirical antimicrobial therapy commenced immediately with intravenous tazobactam/piperacillin (4.5g three times daily) and ornidazole (500 mg twice daily) from the first day in the hospital. One week later when we got the result of mNGS, etimicin (300mg one time daily) was used in combination to enhance treatment against Gram-negative bacteria. Another two weeks later, the symptom of diarrhea in the patient was considered to be due to the imbalance of intestinal flora induced by long-term extensive use of broad-spectrum antibiotics. Therefore, the anti-infective treatment regimen was reduced to etimicin only. The patient was hospitalized for one month. The results of CT re-examination suggested that the area of infection in the inferior lobe of the left lung was significantly reduced, and the cavity was smaller (Figure 1B). After he was discharged from hospital, he was treated with oral levofloxacin (0.5g once daily) for four months. The condition of the lung was further improved than before (Figure 1C).",
"gender": "Male"
}
] |
PMC8326275
|
[
{
"age": 4,
"case_id": "PMC7378605_01",
"case_text": "The child is now 4 years old and has had an excellent outcome. She has a very slight language learning disability and no signs of cardiomyopathy. Anthropometrical measurements are normal according to the WHO standards: p50-75 for length and weight and p25 for head circumference.\nSo far, she has had only two mild metabolic decompensations coinciding with respiratory infections. Discrete elevations of hepatic transaminases and creatine kinase (maximum 1200 U/L) were detected during these episodes, but no acidosis or hyperammonemia. As a preventive measure, the dose of NCG was doubled during these episodes.",
"gender": "Female"
}
] |
PMC7378605
|
[
{
"age": 27,
"case_id": "PMC9894875_01",
"case_text": "A 27-year-old man came for treatment complaining of a progressively enlarging mass on his left upper arm over 4 months with occasional slight discomfort. He reported no history of trauma, infection, or prior surgery of the lesion. Magnetic resonance imaging (MRI) confirmed the presence of a well-defined mass located deeply in the outer edge of the middle humerus muscle, but at the focal border, it had protruded into the surrounding muscle. The signal intensity was slightly enhanced on T1-weighted imaging (Figure 1A) and marked heterogeneous enhancement on T2-weighted imaging (Figure 1B). The MRI findings suggested the possibility of fibromatosis. The patient underwent surgery for mass excision. On gross examination, it was an irregular, solitary mass measuring 5.0 cm x 4.0 cm x 4.0 cm, in the muscle with a grayish-white cut surface.\nMicroscopic examination showed that the tumor was relatively well demarcated, but in the focal, it was infiltrating the adherent muscle (Figure 2A). It was highly cellular and composed of fibroblasts and myofibroblasts arranged in bundles with an interlaced pattern (Figure 2B). Part of the lesion was discohesive and myxoid with a microcystic appearance (Figure 2C). Some tumor cells had mild atypia with active mitotic counts (the average mitotic counts up to 8 per 10 high-power fields, Figure 2D) and mingled conspicuous multinuclear or atypical giant cells (Figure 2E). Erythrocyte extravasation was easily seen on a background of collagenous stroma (Figure 2F), with some hemosiderin deposition and scattered lymphoplasmacytic cells infiltration.\nImunohistochemical detection, The tumor cells were only positive for smooth muscle actin (SMA) (Figure 3A), negative for cytokeratin, desmin, H-Caldesmon (see supplement data), CD34, S100, ALK, and beta-catenin. The multinuclear giant cells were positive for CD68 (Figure 3B)). The average rate of ki67 positivity was 10% (Figure 3C). According to histopathological and immunohistochemical studies, fibromatosis was first excluded for the tumor's growth pattern and beta-catenin negative. Leiomyosarcoma was ruled out as well for H-Caldesmon and desmin negative. However, it was still difficult to distinguish the tumor from a (myo) fibroblastic sarcoma.\nMolecular detection was performed on 4 mum paraffin-embedded tumor section by Fluorescence in Situ Hybridization (FISH) using a USP6 dual-color break-apart probe (Guangzhou LBP Medicine Science and Technology Co., Ltd., Guangzhou, China). The FISH results revealed evidence of USP6 gene rearrangement given the division of green and red signals (Figure 3D). The average percentage of USP6 split signals was 40%. Molecular findings confirmed the diagnosis of intramuscular NF. At 56 months after surgery, the patient recovered well with no evidence of recurrence or metastasis by the imaging examination.",
"gender": "Male"
}
] |
PMC9894875
|
[
{
"age": 41,
"case_id": "PMC5890374_01",
"case_text": "A 41-year old obese (Body mass index: BMI of 31), type II insulin-dependent diabetic female diagnosed with stage II carcinoma of the right breast underwent treatment with neoadjuvant chemotherapy followed by bilateral total skin sparing mastectomies with immediate reconstruction using tissue expanders and acellular dermal matrix (ADM). The ADM employed was ready-to-use AlloDerm (Life Cell Corporation, Branchburg, New Jersey). \nOn post-operative day 18, the patient developed bilateral breast seromas, requiring needle aspiration using an 18-gauge IV catheter. Mild erythema was noted at this time and a ten-day course of oral levaquin was started. Aspiration was performed again on the right side two days later. Both seroma cultures grew Mucor (zygomycetes) colonies (few colonies). Oral voriconazole 200 mg every 12 hours was started per infectious disease recommendations. Tight glycemic control (<180) was maintained with close follow-up by her endocrinoloist.\nOn post-operative day 23, dehiscence was noted at the apex of her vertical incision abutting the areola with an area of skin necrosis from mastectomy skin flap ischemia (Figure 1 and 2). The patient was afebrile and exhibited no signs of sepsis. Debridement of the skin and closure of the wound was performed, preserving the tissue expander and ADM. The ADM was intact without expander exposure. There was no purulence or necrosis of tissue deep to the dermis at the site of dehiscence. Subcutaneous tissue and fluid cultures were positive for Mucor (moderate count). Antifungal therapy was switched to posaconazole 800 mg per oral per day. \nAt the time of her drain removal from this second surgery, biofilm strands from the drain site also grew two colonies of Mucor. She required repeat seroma aspiration one week later, and this time the culture was negative. On week later, repeat seroma aspiration grew out skin flora, and this aspiration was followed one day later with abrupt onset of right breast cellulitis which was successfully treated with two weeks of IV ertapenem and vancomycin. She required additional right breast seroma aspirations, two more times over the next 3 weeks. \nThe first culture was no growth and second one was positive for skin flora. All aspirations revealed cloudy seroansguinous seroma content, never frankly purulent. Her recurrent seromas resolved, but three months later, her right breast cellulitis recurred, which again responded to IV antibiotics, this time with vancomycin and piperacillin/tazobactam. Thereafter, her healing became uneventful and her tissue expansion was competed to 700 mL bilaterally. \nShe completed a one-year course of antifungal under the surveillance of infectious disease consultants, which included close monitoring of liver function tests. Seven weeks after completion of posaconazole, bilateral tissue expander exchange to 750 mL high profile smooth silicone round implants was performed. Capsular tissue appeared normal. Post-operatively two years later, the patient has had no recurrent infections (Figure 3). The patient is currently 3 years after her second-stage breast reconstruction doing well.",
"gender": "Female"
}
] |
PMC5890374
|
[
{
"age": null,
"case_id": "PMC7649943_01",
"case_text": "A 24-year female, resident of Odisha, presented with complaints of chest pain, fever, cough with yellowish sputum, breathlessness at rest, pain in all limbs more in upper limb compared with lower limb. She also complaint of headache, pain in abdomen often at right hypochondrium associated with vomiting. Patient had similar episodes in the past with frequent history of easy fatigue, anaemia, jaundice, skin ulcerations, upper respiratory infections and gall bladder stones. She had received only 1 unit of blood transfusion in her childhood.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC7649943_02",
"case_text": "On examination patient was dyspnoeic with severe pallor, yellowish discoloration of eyes and a small ulcer on the lateral side of her right thigh. She had sinus tachycardia with pulse rate of 131 beats/minute, SPO2 of 78% on room air and blood pressure (BP) of 100/60 mmHg. On auscultation crepitations were present on the right infrascapular and infraaxillary region. Abdominal palpation revealed an enlarged liver measuring 7 cm below the right costal margin and an enlarged spleen measuring 12 cm in its largest dimension. Chest X ray at mid inspiration revealed right anterior rotation with ill-defined radio opacity, and right lower zone consolidation. Abdominal ultrasound revealed splenomegaly of 13.5 cm with obliteration of medullary pyramids.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC7649943_03",
"case_text": "Laboratory findings as in Table 1, showed severe anaemia, increase in total leucocyte count predominant with neutrophils, with sickle cells on peripheral smear. Additional test showed positive sickling test and total bilirubin of 5.90 mg/dl. High performance liquid chromatography (HPLC) showed Hb-S = 76 area%, Hb-F = 19 area%, Hb-A1 = 1.7 area%, Hb-A2 = 2 area%. A provisional diagnosis of sickle cell anaemia with hereditary persistence of foetal haemoglobin (Hb-F) or compound heterozygous thalassaemia was made. Patient was second order female child with no similar complaint in other family members. Her father and mother were screened for sickle cell disease by HPLC and were found to be sickle cell trait with Hb-S, 36.2 area% and 33.9 area%, respectively.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC7649943_04",
"case_text": "In view of persisting symptoms and discussion with clinician, automated red cell exchange was planned. On day 3 of admission, an internal jugular line was secured and red cell exchange was started on automated cell separator (RCEx). Before the start of procedure, patient's condition deteriorated with sudden fall in SPO2, severe breathlessness, chest pain, fall in blood pressure, feeble pulse and bradycardia. Procedure was postponed and the patient was shifted to intensive care unit (ICU) where she was immediately intubated and given normal saline as bolus with adrenaline in 1 in 10 000 dilution intravenously. Her chest X ray was repeated which showed new pulmonary opacities, and bilateral pulmonary effusion (Figure 1), suggestive of deterioration in condition. Electrocardiography (ECG) was within normal limits and 2D-ECHO shows left ventricular ejection fraction (LVEF) of 60%, normal cardiac dimensions, and valves with no features of pulmonary embolism. Non-contrast CT scan (NCCT) head was normal. On day 8 of admission, in view of persisting and severe symptoms, clinical team requested for RCEx. RCEx was done on patient on ventilator support with blood pressure of 96/58 mmHg on noradrenaline and pulse 122 beats/minutes. Target haematocrit was kept at 30% and fraction of cell remaining (FCR) at 30%, cell separator processed a total of 3178 ml of the whole blood and removed 1929 ml of red cell volume. The blood volume was replaced with 1696 ml (8 units of packed red cell) of leucoreduced Rh and Kell matched and cross match compatible packed red cell having a haematocrit of 55%. During the procedure, patient received 122 ml of acid citrate dextrose as anticoagulant and 40 ml of 0.93% of calcium gluconate in 400 ml normal saline at 1 ml/min to prevent calcium chelation. Whole procedure was completed in 193 minutes and patient was comfortable and did not show any signs of further deterioration. Complete blood count, liver function test, renal function test, ionised calcium and HPLC were repeated after 12 hours as shown in Table 1, showing dramatic improvement in laboratory values. Patient was relieved of chest pain and bone pain immediately after the procedure. Oxygen saturation improved to above 90% on room air. On day 13, patient was asymptomatic, comfortable and was discharged on hydroxyurea 500 mg twice daily, folic acid supplement and advised for influenza and pneumococcal vaccinations. She was followed up monthly for next 3 months with Hb-S load and planned for prophylactic RCEx if Hb-S greater than 50% or if she becomes symptomatic, that is in crisis.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC7649943_05",
"case_text": "She was given instructions to seek medical help in case of fever, new ulcers on limbs, bone pain that does not get away with treatment, abnormal speech, weakness and to prevent herself from infection and dehydration. During her stay in the hospital, genetic analysis of the patient and her parents could not be done but were advised for the confirmation and characterisation of compound heterozygous thalassaemic state with sickle cell disease.",
"gender": "Female"
}
] |
PMC7649943
|
[
{
"age": 60,
"case_id": "PMC3567412_01",
"case_text": "A 60-year-old woman with no history of tuberculosis, pyothorax or artificial pneumothorax therapy, presented 4 months before her admission an asthenia, fever, chills, and night sweats. Physical examination revealed a mass of 10 cm localised in lateral chest wall (Figure 1). ignificant laboratory findings were as follows: haemoglobin: 9,3g/dL, erythrocyte sedimentation rate: 60 mm/h, LDH rate: 620 UI/ml. Computed tomographic scan confirmed the localisation in chest wall with invasion of the ribs (Figure 2).\nA biopsy of the chest tumor was performed and revealed a non-Hodgkin lymphoma with null phenotype. Immunohistochemical staining of the specimen was positive for leukocyte common antigen, CD20, and Ki67 and negative for CD3, vimentin, desmin, chromogranin, neuron specific enolase, CD99, and actin.\nThe patient received four cycles of chemotherapy CHOP 21 (Cyclophosphamide 750 mg/m2 Intraveinously (IV) at day1, doxorubicin 50 mg/m2 IV at day1, vincristine 1, 4 mg/m2 with a maximum total dose of 2 mg IV at day1 and prednisone 40 mg/m2/day per os from day 1 to 5) followed by local radiotherapy, total dose was 40 Gy delivered as 2Gy daily fractions, 5 day per week. She had a complete response maintained for more than 7 months.",
"gender": "Female"
}
] |
PMC3567412
|
[
{
"age": 73,
"case_id": "PMC6536776_01",
"case_text": "A 73 year old man underwent successful EVAR with a bifurcated aortic stent graft (Excluder; W. L. Gore and Associates Inc., Newark, DE) for a 5.5 cm infrarenal abdominal aortic aneurysm (AAA) following the manufacturer's instruction for use. He had a previous medical history of hypertension. The post-operative course was uneventful and enhanced CT showed no migration or endoleak one week after EVAR. Follow up with enhanced CT revealed no change in the aneurysm sac with a diameter of 5.5 cm for the first three years, no endoleak and no stent graft migration. After three years, the aneurysm sac started shrinking rapidly to 4.0 cm at four years and 3.5 cm at five years.\nAfter five years and eight months, the patient suffered from fever and back pain with C reactive protein elevated to 20.7 mg/dL and the white blood cell count 19.2x109/L. Blood culture revealed no organisms. Enhanced CT demonstrated enlargement of the aneurysm sac to 4.5 cm and type II endoleak from the third and fourth right lumbar arteries (Fig. 1A and B). Air was seen around the stent graft inside the aneurysm sac, and the margin between the duodenum and AAA was ill defined.\nDiagnosis of stent graft infection was made, and intravenous antibiotic therapy with meropenem and vancomycin was started. However, as CT showed ventral protrusion of the aneurysm sac two days later (Fig. 2), an emergency operation was indicated.\nThrough a median laparotomy, the AAA was exposed, and grey malodorous pus was encountered when the aneurysm sac was dissected from the adhesive duodenum. The infrarenal abdominal aorta was clamped above the stent graft, and the common iliac arteries were clamped below the limbs of the stent graft. The stent graft was then wholly removed after opening the aortic sac, and the proximal hooks were removed from the wall of the aorta by pushing the stent graft upwards. Backflow from the third and fourth right lumbar arteries was confirmed. The aneurysm sac was radically debrided together with the surrounding tissue. In the third part of the duodenum there was a small fistula resembling the mouth of a fish measuring 1x1 cm (Fig. 3). The fistula was located away from the anchors at the proximal edge of the Excluder.\nThe duodenal fistula was closed by direct suture and in situ reconstruction was performed with an 18x9 mm standard polyethylene terephthalate graft (J-graft, Japan Lifeline Co. Ltd., Tokyo, Japan). After vigorous lavage the laparotomy was closed temporarily. The next day, omentopexy was performed, which consisted of wrapping the synthetic prosthesis and covering the suture line on the duodenum with the omental pedicle. The culture of the explanted stent graft revealed only gram negative enterobacter. A fungal test was negative. Intravenous antibiotic therapy with sulbactam/ampicillin and levofloxacin was continued for six weeks. Antibiotic therapy was stopped after confirming no recurrence of infection on computed tomography and laboratory testing. Two years later there has been no recurrence of infection. Informed consent for research was obtained at the outpatient clinic.",
"gender": "Male"
}
] |
PMC6536776
|
[
{
"age": 30,
"case_id": "PMC10313112_01",
"case_text": "Case 1 (P1) was of a 30-year-old female patient with PV, who exhibited increased haemoglobin level 4 years ago and then underwent bone marrow aspiration and biopsy in a local hospital. The usual MPN-related gene mutations (Table 1) were not detected using qPCR and the bone marrow biopsy result at the initial diagnosis was lost. She was diagnosed with JAK2 unmutated PV at the same hospital and underwent phlebotomy and oral aspirin therapy. The patient visited our hospital in October 2020, and her haemoglobin level was 198.0 g/L. Bone marrow biopsy was conducted again, and the results confirmed diagnosis of MPN (Table 2; Figure 1). Targeted NGS revealed the presence of JAK2 exon12 mutation (p.H538_K539delinsQL) (Figure 2) with a VAF of 20.9%. This mutation is very rare, and was reported only few times in the COSMIC database before May 2023. COSMIC is the catalogue of somatic mutations in cancer, and is the world's largest and most comprehensive resource for exploring the impact of somatic mutations in human cancer (https://cancer.sanger.ac.uk/cosmic?genome=37). It was omitted from initial diagnosis because qPCR did not include this locus.",
"gender": "Female"
},
{
"age": 56,
"case_id": "PMC10313112_02",
"case_text": "Case 2 (P2) was of a 56-year-old female patient with ET. The patient presented with dizziness when she first visited the hospital, after which an increased platelet count was noted. She underwent routine blood tests regularly, and the platelet count increased progressively to 812.0 x 10^9/L. Conditions involving increasing number of reactive platelets, such as in infection, bleeding, or tumours, were excluded. The patient then underwent bone marrow aspiration and biopsy. Aspirated bone marrow films showed clues of MPN (Table 2; Figure 1). MPN-related gene mutations were found to be negative using Sanger sequencing. After 6 months of close monitoring, the platelet count did not decrease. Therefore, targeted NGS was conducted, and CALR p.E380Rfs*51 was detected with a VAF of 12.3% (Figure 2). NFE2 p.R284C with a VAF of 14.9%, and TET2 p.Q622* with a VAF of 9.6% were also detected. CALR p.E380Rfs*51 is a novel driver variant; therefore, any relevant report was not retrieved from the COSMIC. Because of the relatively low sensitivity of Sanger sequencing (15%-20%), the mutation was eliminated at initial diagnosis. Subsequently, the patient was administered interferon therapy. After 2 months of treatment, the platelet count decreased to 761 x 10^9/L. The patient then switched to oral hydroxyurea therapy and maintained a stable platelet count that varied in the range of 560-630 x 10^9/L.",
"gender": "Female"
},
{
"age": 36,
"case_id": "PMC10313112_03",
"case_text": "Case 3 (P3) was of a 36-year-old patient with PMF. She was admitted to our hospital because of pleomorphic adenoma, splenomegaly (with a thickness of 6.3 cm), anaemia, increased leukocyte count, platelet count, and lactate dehydrogenase (LDH) level (954 U/L). Additionally, the patient had constitutional symptoms of night sweats and weight loss. She underwent bone marrow aspiration and biopsy. Peripheral blood films and bone marrow tissues confirmed the diagnosis of MPN (Table 2; Figure 1). Common MPN-related mutations were confirmed to be negative using qPCR. Targeted NGS was performed, and the MPL p.W515_Q516del (Figure 2) mutation with a VAF of 68.9% was identified. ASXL1 p.G996Sfs*3 with a VAF of 46.7%, and EZH2 p.C590Y with a VAF of 48.3% were also identified. MPL p.W515_Q516del is a novel driver variant, and has not been reported in the COSMIC. qPCR did not cover this locus; therefore, this mutation was omitted. After 3 months of treatment with JAK2 inhibitor, the platelet count decreased to normal, constitutional symptoms disappeared, and the spleen shrank by more than 50%.",
"gender": "Female"
},
{
"age": 65,
"case_id": "PMC10313112_04",
"case_text": "Case 4 (P4) was of a 65-year-old patient with PMF who was diagnosed with triple-negative MPN 3 years ago. He presented to the hospital with fatigue and dyspnoea lasting 8 months. The patient exhibited constitutional symptoms including significant weight loss of 7.5 kg in 20 days. After admission to the hospital, anaemia, increased LDH level (998 U/L), and splenomegaly (with a thickness of 4.7 cm) were observed. Peripheral blood smears and bone marrow tissues revealed the diagnosis the MPN (Table 2; Figure 1). Both qPCR and targeted NGS did not detect JAK2, CALR, or MPL mutations; however, the SH2B3 p.S337Ffs*3 with a VAF of 37.3%, which is associated with JAK/STAT signal transduction pathway, was detected by NGS. The mutation is novel; therefore, any relevant report was not retrieved from the COSMIC. After receiving stimulus to erythrocytes and support treatment, the patient voluntarily left the hospital.",
"gender": "Male"
}
] |
PMC10313112
|
[
{
"age": 63,
"case_id": "PMC4802324_01",
"case_text": "A 63 years-old woman was admitted in emergency for a pain of the right hypochondria combined with a pneumoperitoneum, after a 3rd episode of high digestive hemorrhages.\nNine months earlier, the patient had a CPD on a normal pancreas for pancreatic head adenocarcinoma with good evolution. The anatomo-pathological examination concluded of an adenocarcinoma of the head of pancreas pT2N+. An adjuvant chemotherapy by Gemsar and 5-FU is introduced but stopped precociously (3 courses) due to a bad tolerance.\nThe patient showed a first episode of hematemesis with hemorrhagic shock requiring a hospitalization for 48 h in surgery intensive care (transfusion of three corpuscular caps). Oeso-gastro-duodenal fibroscopy shows three ulcerations on the set-in ileac efferent loop without any hemorrhagic sign, treated by endoscopy. Ten days later a 2nd episode of high digestive haemorrhage, with a state of shock, occurred. The patient was hospitalized for etiological research and monitoring. Two oesogastro-duodenal fiberscopies, followed by a colonoscopy and a video capsule endoscopy did not help to identify the origin of the bleeding. An abdominal computed tomography (CT) angiography with high opacification did not find any active arterial bleeding, neither any pseudo-aneurism of the different branches coming from the celiac trunk (particularly from the gastroduodenal artery stump). It was not found apparent leaks of the pancreatico-jejunal anastomosis.\nThe occurrence 33 days later after the 1st episode, of a 3rd episode of high digestive hemorrhage combined with faintness and a melena required the carrying out in emergency of an abdominal CT angiography. This showed a pneumoperitoneum of average abundance without any apparent sign of leak. With a stable clinical state, an abdomen tenderness, and because of a surgery made complex by the CPD previous history, without possible detecting of the perforation on abdominal CT scan, a medical treatment with nasogastric tube, proton-pump-inhibitor (PPI) intravenous and antibiotherapy was introduced. After 24 h, the patient was transferred to digestive surgery due to the aggravation of the abdominal pain combined with a light muscular defense. Abdominal CT scan with ingestion of contrast product did not show any leaking of the contrast product. The patient was conscious without any sign of hemodynamic choc, the abdomen was painful with a severe pain on the right hypochondrium combined with a light muscular defense. Biology did not show any signs of cardiovascular decompensation (level of hemoglobin = 8,8 g/dl), nor of hemostasis disorder. An exploratory laparotomy was done due this clinical condition. Surgical exploration showed a chronic sinus between the pancreatico-jejunal anastomosis and the left hemi-liver. The sinus was 1 cm of length; We noted there, an active bleeding of the gastroduodenal artery stump covered by the left hemi-liver (Fig. 1). A perfect hemostasis of the gastro-duodenal artery stump is carried out by a double ligation with Prolen 5/0. A pancreatic cutting is carried out at the level of the fistula, followed by a repairing of the pancreatico-jejunal anastomosis on a solid pancreas and, of a Wirsung canal of moderate caliber. Two TACOSIL compresses are placed on the vessels. A drain is placed on the Wirsung, as well as a multi-tubulated blade ahead of the great omentum and draining the posterior face of the pancreatico-jejunal anastomosis. The pancreatic cutting was not invaded during the extemporaneous anatomo-pathological examination. The operating effects were simple with an authorized exit of fifteen days after the operation. No hemorrhagic recurrence was noted up to this date after eight months of passed time.",
"gender": "Female"
}
] |
PMC4802324
|
[
{
"age": 29,
"case_id": "PMC9830020_01",
"case_text": "Our patient is a 29-year-old female (height 164 cm, body weight 103 kg, body mass index 38 kg/m2) with GD1. GD1 was diagnosed 10 years ago by molecular testing of the GBA1 gene revealing two pathogenic mutations (c.475C>T [p.Arg159Trp] in exon 5; c.1226A>G [p.Asn409Ser] in exon 9). On examination and investigation at the emergency department, she showed the following signs of GD1: splenomegaly, anemia (hemoglobin level 11.3 g/dl, red blood cell count 4.01 million cells/mul, and hematocrit level 34.4%), and thrombocytopenia (148 000/nl). The patient was on long-term substrate reduction monotherapy with oral eliglustat (daily dose 84 mg) for 2 years. This dosage regimen is based on her cytochrome P450 2D6 genotype (poor metabolizer, PM). The patient did not take any concomitant medication. In February 2021, in a suicidal attempt, she ingested all at once 94 capsules of eliglustat (84 mg of eliglustat per capsule) which is a total of almost 8 g of eliglustat. The patient herself called the ambulance within the first hour after ingestion of the medication. Upon arrival of the emergency physician, she was already somnolent and hemodynamically unstable. The patient showed severe bradycardia (37 bpm) and hypotension (70/50 mmHg). The emergency physician promptly administered atropine (1 mg) and also cafedrine/theoadrenaline (100 mg/5 mg) into a forearm vein. When she was in a stable condition, the patient was transferred to the nearby emergency unit. Upon arrival at hospital, heart rate and blood pressure were no more below normal (heart rate 80 bpm and blood pressure 100/75 mmHg), and the patient remained in a stable condition. No respiratory insufficiency was detected (oxygen saturation 94% and respiratory rate 10/min). Neurological examination revealed mild somnolence with lack of concentration. A complete blood analysis showed normal serum electrolyte levels, normal liver and kidney function, and normal blood glucose levels. A broad toxicology screening in urine (methamphetamine, cocaine, tetrahydrocannabinol, ecstasy, methadone, morphine/heroine, benzodiazepines, tricyclic antidepressants, barbiturate, amphetamines, and buprenorphine) was negative. During 24 h of continuous electrocardiographic monitoring at the intensive care unit an increased frequency of supraventricular ectopic activity and mild first-degree atrioventricular block (PR interval: 206 ms) were observed. The patient improved gradually by supportive care (fluid therapy). After 24 h, the reactions had resolved completely and the patient was transferred to a psychiatric facility for follow-up (suspected undiagnosed schizophrenia). She has reported to a clinician on auditory hallucinations as cause of her suicidal attempt: commanding voices had told her to take the drugs.",
"gender": "Female"
}
] |
PMC9830020
|
[
{
"age": 52,
"case_id": "PMC4499615_01",
"case_text": "The proband (II-1) is a 52-year-old male who was admitted to our department complaining of abdominal pulsatile mass. Computed tomography angiography (CTA) scan revealed a bilateral common iliac artery aneurysm and abdominal aorta tortuosity (Figure 1(b)). The right common iliac artery aneurysm was estimated to be 5.0 cm in diameter accompanied by mural thrombosis (Figure 1(c)). He also reported a ten-year history of back pain. He was subsequently referred to magnetic resonance image (MRI) evaluation, which showed marked degenerative changes of lumbar spine and narrowing of the spinal cord (Figure 1(d)). He underwent an endovascular repair of the aneurysm and the procedure was uneventful. Family history was positive for sudden death in the proband's father (I-1) at the age of 48, for which the underlying cause remained unknown. Subsequent screening of his children revealed prominent dilation of the ascending aorta in the 22-year-old son (III-1). Neither of his mother (I-2) and daughter (III-2) presented vascular anomalies at the time of evaluation.\n SMAD3 screening identified a heterozygous substitution of guanine to adenine at nucleotide 266 in the coding sequence of exon 2 (c.266G>A), in individuals II-1 and III-1 (Figure 2(a)). This variant resulted in a transformation of Cysteine into Tyrosine at amino acid position 89 (p.Cys89Tyr). It was not present in the unaffected individuals of the pedigree or in the 100 controls. Furthermore, this variant was not annotated in major databases, such as the Exome Sequencing Project, 1000 Genome, and dbSNP139. The altered amino acid is highly conserved across species (Figure 2(b)). Three programs for analyzing protein functions, PolyPhen2, SIFT, and MutationTaster, predicted that the p.C89Y variants are possibly damaging and disease causing, respectively. All three different algorithm based bioinformatics programs yield a consistent result of detrimental effect of the variant, suggesting that the site (C89) plays pivotal roles in the function of SMAD3.",
"gender": "Male"
}
] |
PMC4499615
|
[
{
"age": 53,
"case_id": "PMC6109579_01",
"case_text": "A 53-year-old white female presented to outpatient orthopedics with a chief complaint of sharp lumbar back pain radiating down her right leg for 2 weeks. The pain was a 7/10 on the visual analogue scale. Review of symptoms was positive for fatigue and negative for bowel or bladder dysfunction. Pertinent physical exam findings included the following: no tension signs, right antalgic gait, right paraspinal tenderness, and normal lumbar spine range of motion. The neurologic exam was normal except for an absent right patellar reflex. The patient had previously underwent multiple lumbar spine surgeries related to a work injury, including L4-L5 right endoscopic discectomy, L3-S1 laminectomies and posterolateral instrumental fusion, L2-L3 lateral left interbody fusion with posterior instrumentation, and correction of L1-L2 segmental kyphosis with extension of fusion to T10 with T10-L5 posterior segmental instrumentation. X-rays and MRIs were obtained at this time, showing instability and spinal stenosis at L1-2. This was above her prior fusion level.\nThe patient elected to have a L1-2 laminectomy with removal of all prior posterior spinal instrumentation and extension of the posterior fusion from L2-T10 with instrumentation placed posterior from T10-L5. She had no acute complications following surgery and was discharged on postoperative day 5.\nAt the patient's 2-week postoperative visit, she reported a 2-day history of acute onset excruciating pain over her lower thoracic region with radiation throughout her ribs and lower back. She also had difficulty walking due to diffuse, ascending weakness, pain, numbness, and tingling in her legs bilaterally, without bowel or bladder dysfunction. The patient reported that she was doing well until the onset of these symptoms and denied any preceding fevers or signs of infection. On physical exam, she was afebrile and her wound was healing well. Neurologic exam revealed varying degrees of muscle weakness in all lower extremity groups with diffuse hyposensitivity to touch over dermatomes L3-S1. There was trace patellar reflexes and absent Achilles reflex bilaterally. She received an immediate thoracic and lumbar MRI with and without contrast. MRI showed no significant cord compression or epidural hematoma or abscess, although there was difficulty interpreting the studies due to extensive spinal hardware. Further imaging was obscured due to her extensive spinal instrumentation from prior surgeries (Figure 1).\nThe patient returned to the operating room 1 week later for exploration of the spine due to the inconclusive imaging and worrisome symptoms and physical exam findings. Cross-link instrumentation was removed at this time, and her laminectomy at L1 was revised. There was no evidence of postoperative hematoma or spinal compression noted intraoperatively. Neurology was consulted, and postoperative nerve conduction testing and electromyography (EMG) were performed in order to further elucidate the cause of her symptoms (Figure 2). EMG and nerve conduction studies showed generalized nonlength-dependent sensory greater than motor polyneuropathy with mostly axonal features. Given the acute onset of her symptoms and lack of significant demyelinating features on nerve conduction studies, the findings were indicative of AMSAN, which is an axonal variant of GBS.\nThe patient was started on intravenous immunoglobulin (IVIG) therapy as well as antiganglioside antibodies. During her first month of treatment, she experienced partial neurologic recovery and then relapsed back to her baseline symptoms at 6-week postoperative. She is currently in in-patient rehabilitation being treated with physical therapy, IVIG, and antiganglioside antibodies with minimal neurologic recovery at this time.",
"gender": "Female"
}
] |
PMC6109579
|
[
{
"age": 62,
"case_id": "PMC6739703_01",
"case_text": "A 62-year-old patient presented with increasing frontal headaches over the preceding 10 days, not relieved by ibuprofen. By the time of presentation, he had developed double vision and drooping of the right eyelid. He reported no other complaints, in particular no fever, rhinitis, or meningeal symptoms. His past medical history was unremarkable, especially with no acute or chronic sinusitis.\nEndoscopy showed mild edema of the mucosa of the ethmoid cells without any signs of purulent nasal discharge. Ptosis and miosis of the right eye (Fig. 1a) were found, consistent with Horner syndrome. Signs of paralysis of the oculomotor nerve included palsy of right eye movement when looking upwards (Fig. 1b), during adduction (Fig. 1c), and looking downwards. No further neurological deficits were found, and the visual acuity was normal.\nMagnetic resonance imaging (MRI) of the brain revealed acute right sphenoidal sinusitis with subtle irregularities of the internal carotid artery in the cavernous segment in the 3D TOF MRA and TWIST. Furthermore, thrombosis of the cavernous sinus, ophthalmic vein, superior petrosal sinus, sigmoid sinus, internal jugular vein, and sphenoparietal sinus on the right side (Fig. 2) was seen in post-contrast acquired images. The additional computed tomography scan showed a permeative osseous erosion of the posterior and lateral walls of the right sphenoid sinus, while the carotid artery remained covered by bone (Fig. 2d).\nGiven the above-mentioned intracranial complications, surgical drainage of the right sphenoidal sinus was indicated. Endoscopic sinus surgery with neuronavigation, including endoscopic septoplasty, middle meatotomy, and drainage of the sphenoidal sinus was performed. Surgical access to the sphenoidal sinuses was exclusively paraseptal with consecutive enlargement of the natural ostium with drainage of purulent discharge of the right sphenoid sinus; the cavity was otherwise intact.\nPenicillin-resistant Staphylococcus aureus was cultured from the intraoperative nasal swab; the histology showed chronic inflammatory changes of the tissue, with no signs of malignancy. Because of intracranial septic thrombosis the patient was treated empirically with intravenous ceftriaxone and metronidazole, followed by administration of oral sulfamethoxazole and trimethoprim for 39 days as advocated by the consultant for infectious diseases. Additionally, anticoagulation was started at the first postoperative day for a total duration of 6 months. All initial signs of ptosis, miosis, palsy of the oculomotor nerve, and double vision improved progressively postoperatively. Four weeks after surgery, the patient was symptom free apart from a mild headache (Fig. 1d-f). Upon endoscopic examination, the sphenoid sinuses were well accessible, with healed mucosa.\nOur institutional review board (Kantonale Ethikkommission Bern) does not require formal approval for case reports. The patient granted written permission to publish the case and images.",
"gender": "Male"
}
] |
PMC6739703
|
[
{
"age": 44,
"case_id": "PMC10035645_01",
"case_text": "A married couple, a 44-year-old male and a 43-year-old female, were evaluated at our facility for OUD. They were previously on methadone for the treatment of OUD and were transitioned successfully to buprenorphine via rapid micro-induction. The rapid micro-induction procedure was performed in an outpatient setting with ancillary medications administered for withdrawal symptom relief. Both patients were assessed and followed on-site by a team composed of an addiction psychiatrist, nursing staff, and an addiction fellow.",
"gender": "Female"
},
{
"age": 44,
"case_id": "PMC10035645_02",
"case_text": "Patient A was a 44-year-old male patient with a past psychiatric history (PPH) of OUD and attention-deficit/hyperactivity disorder (ADHD) on treatment with methadone 50 milligrams (mg) for the past nine years. He had been stable on that regiment without any complications, but sought a change in treatment due to transportation difficulties and the driving distance to the clinic. Additional past medical history included melanoma and renal cell carcinoma status post left nephrectomy. He was started on hydromorphone and various prescription opioids following his left nephrectomy. The patient had chronic bilateral knee pain in addition to his post-surgical pain which was managed with opioid therapy. He then developed tolerance to the opioids, started to increase the dosage and frequency of opiates, and obtained them illicitly from the streets. He was diagnosed with OUD, started on methadone, and nine years later he decided to switch therapies.",
"gender": "Male"
},
{
"age": 43,
"case_id": "PMC10035645_03",
"case_text": "Patient B was a 43-year-old female patient with a past medical history of hypothyroidism, PPH of OUD, and ADHD and was on treatment with methadone 67 mg. There were no reported issues or side effects with methadone, but she wanted to make the change to buprenorphine for reasons similar to her husband, including her job, transportation, and children at home.\nRapid micro-dosing of buprenorphine technique was explained to the patients, and they expressed interest in this method. For patient A, the micro-induction procedure began with a 2 mg sublingual film of buprenorphine. The film was divided into four parts of 0.5 mg buprenorphine that was administered in intervals of one-half to one hour under direct supervision in the clinic. Following complete dosing, 50 mg of methadone was administered.\nThe Clinical Opiate Withdrawal Score (COWS) scale was used to quantify the severity of opiate withdrawal. The COWS scale establishes severity ranges based on patients' signs or symptoms in the following manner: Scores 5-12 = mild; 13-24 = moderate; 25-36 = moderately severe; more than 36 = severe withdrawal. COWS was obtained at the start of micro-dosing and thirty minutes after completion (Table 1). Mild withdrawal symptoms of sweating, chills, fatigue, and nausea were observed on the first day with a COWS score of 9.\nThe dose of buprenorphine was increased to 3 mg on day two, followed by the administration of 50 mg of methadone. On day three, patient A was scheduled to take 6 mg of buprenorphine, but decided to take 4 mg to align his treatment course with his wife. On this day, he reported feeling anxious and had a COWS of 0. On day 4, he was administered 8 mg buprenorphine with methadone dosing. On day 5, he started on 12 mg of buprenorphine at home and discontinued methadone. He returned to the clinic the following week dosed at 16 mg buprenorphine, but reported cravings and mild withdrawal symptoms. He expressed interest in increasing the dosage greater than 16 mg. At that time, he was switched to 20 mg daily and entered the stabilization phase of buprenorphine treatment.\nPatient B followed a similar treatment course, but needed an additional day of micro-induction to achieve the complete transition from methadone to buprenorphine. Micro-dosing of buprenorphine was followed by administration of 67 mg of methadone. She stopped her levothyroxine for hypothyroidism several days prior to starting microinduction due to concern about medication interaction. On day one, she was started on 1 mg buprenorphine, but began to display withdrawal symptoms (chills, fatigue, nausea, myalgias, and anxiety) and had a COWS of 12. At that point, micro-induction was stopped, and methadone was dosed at 67 mg. The patient was administered hydroxyzine 25 mg and clonidine on day one and continued to receive them on days two and three (Table 2).\nOn day two, she was administered 2 mg buprenorphine and had a COWS of 8, reporting chills, fatigue, abdominal pain, diarrhea, nausea, itching, tremors, and headaches. On the third and fourth days, the patient was dosed with 4 mg and 8 mg of buprenorphine, respectively. On both days, the patient denied having withdrawal symptoms. The following days occurred over the weekend and her dose was increased to 16 mg. She reported having headaches, low energy, and insomnia over both days. She stated that she felt more comfortable at 12 mg and did not want to increase the dose.\nBoth the patients transitioned successfully to buprenorphine. Four days were required for patient A and five days for patient B to complete the transition, including a day for initial assessment and half days dedicated to clinical care. On follow-up in four weeks, both the patients were stable on buprenorphine and did not report relapse.",
"gender": "Female"
}
] |
PMC10035645
|
[
{
"age": 52,
"case_id": "PMC9772969_01",
"case_text": "The patient was a morbidly obese 52-year-old female with a past medical history of hypertension, diabetes mellitus, peripheral vascular disease, and coronary artery disease with a smoking history of three packs per day for over 10 years. She was 5'3'', 210 lbs, and had a body mass index (BMI) of 37.2 kg/m2. She first presented to a different hospital's emergency department with chest pain in addition to intermittent claudication. Electrocardiogram (EKG) and cardiac work-up at that time showed unstable angina requiring percutaneous coronary intervention. Femoral artery catheterization was attempted and unsuccessful, so radial artery catheterization had to be performed. After the coronary stent was placed her chest, pain resolved but she continued to have lower extremity rest pain. Computed tomography (CT) performed at that time showed infrarenal occlusion of the aorta with positive collateral flow. She was told to follow-up with her vascular surgeon but was lost to follow-up. One month following her hospital admission, the patient presented to our emergency department for the first time with acutely worsening symptoms of bilateral lower extremity paresthesia and pain at rest. The patient had weak posterior tibial and dorsalis pedis pulses as well as monophasic signals bilaterally on doppler exam. She had intact lower extremity motor function, and appropriate skin color. Further evaluation through computed tomography angiogram at that time revealed infrarenal occlusion of the abdominal aorta and bilateral common iliac arteries with reconstitution of the external iliac arteries (Figure 1). Additional work-up was performed to rule out causes of limb ischemia. EKG showed no signs of acute cardiac ischemia or infarction. Echocardiogram showed normal ejection fraction and no cardiac wall abnormalities. Coagulation studies including D-dimer testing, COVID testing, antiphospholipid antibody syndrome enzyme studies, and Factor 5 Leiden deficiency were all negative. Troponins were not elevated, and neither myoglobin nor creatinine kinase levels were assessed. Renal function testing showed a creatinine level increased to 1.4 from 1.1 at baseline.\nIntraoperatively, proximal control of the aorta was obtained using a supra-renal cross clamp with control of the renal arteries to prevent renal artery embolization. The common femoral arteries were found to be soft and were cross clamped for distal control. Following control, the proximal aorta was transected inferior to the renal arteries as indicated by our CTa showing total infrarenal aortic occlusion. At the level of transaction, there was dense atherosclerosis with overlying organized thrombus formation. Interestingly, there were no gross signs of ruptured plaque or transmural inflammation identified. An aorto-femoral bypass with a bifurcated 28 mm Terumo (Ann Arbor, MI) Gelsoft plus graft was promptly performed in the traditional fashion (Figure 2). Postoperatively, the patient experienced immediate resolution of her lower extremity symptoms.",
"gender": "Female"
}
] |
PMC9772969
|
[
{
"age": 31,
"case_id": "PMC6642751_01",
"case_text": "A 31-year-old primigravida was referred to our Maternal Fetal Medicine practice after a routine first-trimester ultrasound at 11 weeks' gestation that revealed a nuchal translucency (NT) of 3.2 mm (Figure 1). The crown rump length measured 11 weeks two days, which was consistent with the patient's last menstrual period which placed her gestational age at 11 weeks. A chorionic villi sample (CVS) was performed at that time. Cytogenetic analysis from the chorionic villi showed a normal male karyotype of 46,XY. The results of the fluorescent in situ hybridization (FISH analysis), Noonan's panel, and microarray for aneuploidy testing were normal. Due to the elevated NT, the patient was referred for a fetal echocardiogram at 15 weeks and 5 days' gestation which revealed a regular atrial rhythm with no structural cardiac abnormalities. An early anatomy ultrasound at 16 weeks and 0 days' gestation was normal, with fetal size appropriate for gestational age and no evidence fetal anomalies.\nA comprehensive anatomy scan at 20 weeks' and 1-day gestation revealed fetal ascites and a small pleural effusion (Figures 2, 3, and 4). No pericardial effusion was observed. The middle cerebral artery peak systolic velocity (MCA PSV) was elevated (1.95 multiples of the median (MoM)), which was suggestive of fetal anemia. At this time, routine serologic testing for herpes simplex virus (HSV), parvovirus, toxoplasmosis, and cytomegalovirus was performed. The patient underwent amniocentesis with polymerase chain reaction (PCR) testing for parvovirus, toxoplasmosis, cytomegalovirus (CMV), and adenovirus.\nA follow-up fetal echocardiogram showed no structural cardiac abnormalities or rhythm abnormalities seen as a cause of hydrops. However, the fetus was noted to have scalp edema, worsening pleural effusion and ascites, and, now, a pericardial effusion. Fetal hemodynamics was normal, including Doppler flow patterns in the umbilical artery and vein, ductus venosus and arteriosus, and middle cerebral artery. Fetal ascites was still present at 20 weeks and 2 days' gestation. The MCA PSV was elevated at 75 cm/second. Maternal parvovirus B19 IgG and IgM were elevated, with values of 5.3 and 2.4 (negative or equivocal <1.1), respectively. At this time, the patient recalled an upper respiratory illness at approximately 9 to 10 weeks' gestation. She denied rash, arthralgias, or knowledge of exposure to a child or an adult with symptoms consistent with a parvovirus infection. Given the above findings, the decision was made that day to perform an amniocentesis, a cordocentesis, and an intrauterine transfusion based on the presumptive diagnosis of fetal anemia secondary to an acute parvovirus infection. The fetal hematocrit was 10%, indicating anemia, and 12 cc of blood was transfused, raising the fetal hematocrit to 25%. At the end of the procedure, the MCA PSV was 45 cm/sec, with decreased systolic/diastolic (S/D) ratio of approximately 2.0.\nAt 20 weeks and 5 days' gestation, the results of the amniocentesis demonstrated elevated parvovirus B19 DNA, quantitative PCR (2,589,801 copies/mL, reference range <100 copies/mL). Fetal ascites persisted the following day at 20 weeks and 6 days' gestation. The MCA PSV was 42 cm/min. A cordocentesis revealed a fetal hematocrit of 24%, and an additional intrauterine transfusion was given for a total volume of 15 cc. The following week, there was no evidence of fetal ascites and the MCA PSV was normal. Subsequent maternal serologic testing for herpes simplex, cytomegalic, and toxoplasmosis virus was negative.\nFor the remainder of the second trimester, ultrasounds were performed every other week to assess fetal growth and MCA Doppler flow. Weekly antenatal surveillance was performed in the third trimester and was consistently reassuring.\nAt 37 weeks and 5 days' gestation, the patient was induced for gestational hypertension. She delivered a viable male fetus weighing 2880g at 37 weeks and 6 days. The neonatal Apgar scores were 8 and 9 at 1 and 5 minutes, respectively. At the time of this report, the infant is doing well and developing appropriately for 5 months of age.",
"gender": "Male"
}
] |
PMC6642751
|
[
{
"age": 55,
"case_id": "PMC4628715_01",
"case_text": "A 55-year-old female applied to our clinic (Department of Oral Implantology, Faculty of Dentistry, Istanbul University) seeking for full prosthetic oral rehabilitation. Patient had already been a wearer of complete dentures in both arches and she wanted them to be replaced by fixed prostheses. After clinical and radiological assessments (Figure 1), considering the loss of the bone and labial support, two treatment options had been presented for the patient: implant supported overdentures or implant supported hybrid dentures. The former was refused by the patient. Considering her financial status, lower arch was preferred to be treated with an implant supported overdenture, considering the insufficient bone height and width.\nAfter clinical and radiological assessments including computerized tomography, it was decided that the patient was a candidate to receive implant supported rehabilitation. Maxillary and mandibular restorations were planned to restore both hard and soft tissues. Thus, seven internal hexed titanium implants (WIS, Merate, Italy) were inserted according to manufacturer's recommendations. Implant locations were 15, 13, 11, 16, 26, 23, and 21 (Figures 2 and 3). Two-staged approach was employed and implants were left to submerged healing. After four months of an osseointegration period, healing abutments were placed by a palatal crestal incision. A coronally repositioned flap from the palatal soft tissue was achieved in order to facilitate a gain of attached tissue and tension-free closure of the flap around the healing abutments (Figure 4).\nSoft tissue around the healing abutments was left to mature for 3 weeks after the second-stage surgery. Impressions were taken using the pick-up technique and a try-in for the quantitative assessment of occlusal vertical dimension and aesthetic appearance evaluation was performed on the wax-up. To determine the position of the future teeth, a complete denture try-in with plastic teeth was made. This setup is considered as the facial border of the future planned wax-up and it also helps the technician to construct a computerized design for this hybrid prosthesis which stimulates the final restoration (Figure 5).\nA porcelain metal substructure was fabricated by CAD-CAM technology, and this structure was sintered by laser to create retention grooves that increase the mechanical retention between the metal and the composite material. In addition to the mechanical retention, chemical retention was provided by a proprietary bonding agent (GC Metalprimer II) (Figures 6, 7, and 8).\nHybrid prosthesis was fixed to the implant abutments at sites 15, 11, 16, 26, 23, and 21 by occlusal screws. Implant at site 13 was found to be placed, tilted to the vestibular aspect during the first surgery, so this abutment at site 13 was cemented to the framework to provide a parallel path of insertion to the framework and to improve this implant's emergence profile (Figure 9).\nHybrid denture teeth and the artificial soft tissue were made by 75% Nanofilled Composite and 25% acryl in composition (NFC; UDMA with inorganic nanofillers, Condulor). The lower overdenture was made by acrylic teeth and metal supported acrylic flange. The abutments were screwed to the implants. Hybrid denture was cemented to number 13 and screwed to the other abutments though a torque wrench to generate the preload that keeps the prosthetic components together. After that occlusion was adjusted, the end result provided adequate contour to facilitate maintenance and healthy gingival tissues (Figures 10, 11, and 12).",
"gender": "Female"
}
] |
PMC4628715
|
[
{
"age": 66,
"case_id": "PMC9674928_01",
"case_text": "A 66-year-old woman with a history of multiple myeloma presented to our hospital referred from outpatient clinic with dyspnea on exertion which gradually worsening for the last one month. Physical examination was significant for decrease breathing sound and dull percussion on the left hemithorax.\nThe patient was initially diagnosed with immunoglobulin A (IgA) lambda multiple myeloma in 2011, when she developed back pain and was found to have a lytic lesion involving the T7 vertebra. A bone marrow biopsy revealed borderline hypocellular bone marrow (30%) with 10% plasma cells expressing CD38, CD56, and CD136 with cytoplasmic lambda light chain. The patient received palliative radiation therapy to the lower thoracic vertebrae for 14 days, and subsequently, was started on bortezomib. She received maintenance therapy with bortezomib for 7 years, after which she was taken off the drug with regular surveillance with serum protein electrophoresis (SPEP), urine protein electrophoresis (UPEP), immunofixation, serum free light chain measurement, urine kappa/lambda light chain measurement, and whole-body positron emission tomography/computed tomography (PET/CT) performed every 6 months.\nThe patient remained in remission for almost 9 years. However, 18 months ago, a PET/CT scan revealed a new PET-avid soft tissue mass along the posterior pleural surface of the right lower lobe with an erosion of the adjacent right ninth rib as well as the right-sided cortex and transverse process of the T9 vertebra. Bilateral PET-avid pulmonary lymphadenopathy was also present. T9 bone biopsy showed infiltration of monoclonal plasma cells and the bone marrow biopsy showed only 8% plasma cells, thus confirming the diagnosis of solitary plasmacytoma of bone (SPB) with minimal marrow involvement. Laboratory result showed normal level of free kappa light chains, free lambda light chains, with normal free kappa/lambda ratio. Local therapy was elected and palliative radiotherapy for the lower thoracic vertebrae was performed.\n1 month ago, the patient started complaining of significant shortness of breath on exertion. A PET scan was performed and revealed multiple lytic lesions and PET-avid foci in the skeleton, including the occipital and parietal bones of the skull, left maxilla, thoracic and lumbar spine, sacrum, both femurs, sacrococcygeal joint, and the right anterior iliac crest. She was also found to have multiple pleural-based, PET-avid soft tissue lesions in both hemithoraces and a soft tissue nodule in the right lateral chest wall with moderate size right sided pleural effusion (Fig. 1). Laboratory result showed that free kappa light chains 1.38 mg/dl, free lambda light chains 12.13 mg/dl, free kappa/lambda ratio 0.11, IgG 607 mg/dl, IgA 2770 mg/dl, IgM 14 mg/dl, total protein 7.8 g/dl.\nDuring the current hospitalization, Thoracoscopy with pleural mass biopsy was done and right-side chest tube was inserted (Fig. 2).\nBiopsy confirmed the diagnosis of extramedullary plasmacytomas in the setting of multiple myeloma relapse (Fig. 3A and B).\nThe patient was started on pomalidomide, bortezomib, and dexamethasone with regimen of pomalidomide 4 mg by mouth (days 1-14), bortezomib 1.3 mg/m2 (days 1 and 8), and dexamethasone 20 mg by mouth (days 1, 8, and 15) every 21 days of a chemotherapy cycle. Current cycle: 14 day 8. Last received: 9/6/22. -William Scheer, PharmD.\nOn the fourth day, she was discharged home to be followed up in the outpatient clinic. A repeat PET scan after 6 months and after about 7 cycles of VPD therapy showed Interval diminution in PET activity in multiple bony foci, pleural based areas, left lung, cervical lymph node and right lateral chest wall consistent with a positive response to therapy (Fig. 4A and B). Then the patient maintained on the therapy.",
"gender": "Female"
}
] |
PMC9674928
|
[
{
"age": 22,
"case_id": "PMC7204860_01",
"case_text": "A 22-year-old woman came to our attention when she was sent to us by the sinologist for the appearance, during breastfeeding, of a right breast lump. She underwent biopsy, which was positive for infiltrating ductal carcinoma with estrogen 5%, progesterone 70%, GATA3, GCDFP15 (focal), E-cadherin, basal markers 8CK5/6, EGFR, and focally p63, negative for Her2, chromogranin, and synaptophysin. The proliferation rate (ki67 was 95%.\nA positron emission tomography (PET) scan was performed and showed intense accumulation of the metabolic tracer by the known lesion occupying the right mammary gland, multiple lymphadenopathies in the right axillary site (the largest having a maximum diameter of about 21 mm), and, of lesser intensity, a lymphadenopathy along the right internal breast chain. Furthermore, metabolic accumulation was detected at a pulmonary nodule located in the basal segment of the right lower lobe, 16 x 12 mm in size, strongly suspected of being a malignancy.\nThe patient had no comorbidity and was in excellent condition, according to her young age. She had a term pregnancy 2 years before and she was still breastfeeding her child at the time of the diagnosis. No other causes for hospitalization and no family history of cancer were reported. She had normal body mass index, no history of smoking, nor alcohol habits. She had a good blood exam and a normal cardiac ultrasound; so, she was started on a regimen with docetaxel 75 mg/m2, doxorubicin 50 mg/m2, and cyclophosphamide 600 mg/m2 (TAC regimen) with GCSF support (pegfilgrastim 24 h after chemotherapy).\nOn the seventh day, the patient came to the oncology ward for abdominal pain that she scored as 8 (VAS scale), obstinate constipation since the day of therapy, and fever. She was found to be neutropenic (neutrophil count 500/mm3) despite the use of GCSF support after chemotherapy. A CT scan showed severe thickening of the ascending colon, part of the caecum and of the proximal transverse colon; the distal transverse colon was normal. The pathological thickness was measured as 15 mm with diffuse hyperemia of the mucosa and marked hypodensity of the submucosa (Fig. 1).\nNeutropenic enterocolitis (typhlitis) was diagnosed, and we aimed to manage the case with medical treatment which consisted of empiric broad-spectrum antibiotic therapy (piperacillin/tazobactam and amikacin), GCSF (filgrastim 30 one administration per day that was continued for 2 days until neutrophil count was >1,000/mm3), hydration, bowel rest, and parenteral nutrition.\nAfter 2 days from hospitalization and antibiotic therapy, the neutrophilic count was normal, the fever was gone, but the abdominal pain was getting worse. So, she underwent a second CT scan which reported an increased circumferential thickness of the transverse colon (16 vs. 14 mm) involving almost the entire transverse colon. A surgical evaluation indicated the need for surgery; so, the patient underwent a right hemicolectomy with resection of the caecum and right and transverse colon till the splenic flexure with lateral ileostomy (Fig. 2).\nThe histological examination showed widespread full-thickness necrotic phenomena with the presence of granulocytic infiltrate involving all the colic wall with extension to the pericolic adipose tissue and to the visceral peritoneum (Fig. 3).",
"gender": "Female"
}
] |
PMC7204860
|
[
{
"age": 41,
"case_id": "PMC3617894_01",
"case_text": "The present study was approved by the Ethical Committee of Kanazawa University Graduate School of Medical Science and followed the tenets of the Declaration of Helsinki. In January 2010, a corneal opacity OU was detected in a healthy 41-year-old male by his primary ophthalmologist when the patient was treated for hordeolum in the left eyelid. He was referred to Kanazawa University hospital for corneal opacity OU in May 2010. At the initial visit, his best-corrected visual acuity was 20/16 OD and 20/16 OS. Intraocular pressure was 17 mm Hg OD and 16 mm Hg OS. Central corneal thickness was 633 mum OD and 648 mum OS. Endothelial cell density was 2,336/mm2 OD and 2,352/mm2 OS. Slit-lamp biomicroscopy revealed a subepithelial opacity in the mid-peripheral to peripheral cornea OU and numerous opacities located at the level of Descemet's membrane OU; however, it was difficult to distinguish precisely the location of the opacity (i.e. deep stroma or Descemet's membrane) (fig. 1). No abnormal findings were noted upon fundus examination. In vivo laser confocal microscopy (Heidelberg Retina Tomograph 2 Rostock Cornea Module, Heidelberg Engineering GmbH, Dossenheim, Germany) showed numerous hyperreflective particles in the subepithelium to superficial stroma OU (fig. 2c, d) and hyperreflectivity of Descemet's membrane OU (fig. 2h). No abnormal findings were noted in the epithelial cell layer, midstroma, deep stroma, and endothelial cell layer (fig. 2a, b, e-g, i). The patient had been a soft contact lens user for 16 years. Although his used soft contact lens OU showed a brown discoloration, metal deposition was not detected with differential interference contrast microscope (fig. 3b). The patient had no skin disorders, no history of metal exposure, and no family history of corneal diseases. He had taken an alpha lipoic acid-containing dietary supplement for a 1-year period in 2005. No abnormal findings were noted on blood testing including serum copper, liver and renal function. Based on the clinical appearance and in vivo laser confocal microscopy findings, a differential diagnosis of pre-Descemet's membrane corneal dystrophy and corneal argyrosis was excluded, but the clinical diagnosis was unclear. Visual acuity, clinical symptoms, and degree of corneal opacity did not change in the 1-year follow-up period in this case of Descemet's membrane and subepithelial opacity OU with unknown origin.",
"gender": "Male"
}
] |
PMC3617894
|
[
{
"age": 9,
"case_id": "PMC3864908_01",
"case_text": "The proband is an Italian 9-years-old boy, offspring to first cousins, with an older and healthy sister. We followed this patient since the age of 2 years. He was born at 40 weeks after an uneventful pregnancy and delivery. During the first months of life, the child presented hypertonus and eye rolling movements. Afterwards, a severe delay of psychomotor development became apparent, characterized by legs hypertonia, axial hypotonia, dyskinetic movements and myoclonic jerks of the arms and the head, no eye contact, and uncoordinated eye movements. The first epileptic seizure occurred at 5 months without fever, characterized by salivation, loss of contact and clonic jerks on the left side of the body. The first seizure lasted 20 minutes and the interictal EEG showed slow waves on the left occipital regions. Over time, several seizure types occurred, characterized by: a) left eye and head deviation with clonic jerks on the left side of the body; b) generalized hypertonia, loss of contact, uncoordinated movements of eye and limbs, cyanosis, and facial and arms twitching; or c) loss of contact, generalized hypotonia and clonic jerks, and tachycardia or bradychardia. Occasionally, at the end of the ictal event, dyskinetic (particularly choreiform) movements of the limbs appeared, without recovery of consciousness. The seizures, with or without fever, could be prolonged (20-30 minutes) and were frequently followed by sleep. Between seizures, the child always showed head tonic extension, erratic limb movements and tremor. The interictal EEG showed multifocal spikes over the right centro-temporal and the left parieto-occipital regions.\nAt three years of age, absences with eye up deviation and eyelid myoclonus appeared ( Figure 1 ). The other seizure types persisted, although reduced in frequency. Seizures were resistant to many drugs (phenobarbital, benzodiazepine, valproic acid, levetiracetam, lamotrigine); absences frequency was improved by ethosuximide. The EEG recordings showed slowing background activity, multifocal, diffuse paroxysmal abnormalities, and a transitory photosensitivity.",
"gender": "Male"
}
] |
PMC3864908
|
[
{
"age": 34,
"case_id": "PMC8378491_01",
"case_text": "A 34-year-old Indian male patient reported with a chief complaint of sensitivity to hot and cold and pain while biting concerning the upper right side last two teeth for 2 weeks. The patient gave a history of pain that persisted for about a few minutes even after removing the stimulus, and sometimes, it occurred spontaneously. The patient had good general health without any significant medical history. The patient gave an account of root canal treatment and crown placement in his upper right first molar tooth 2 years ago. On clinical examination, tooth 17 had mesial caries, and tooth 16 had a crown. There was no extraoral or intraoral swelling or sinus tract associated with the concerned teeth. The attached gingiva was normal in appearance and palpation. Both the teeth were nontender to percussion. Cold testing (Roeko Endo Frost, Coltene/Whaledent Inc., OH, USA) showed an immediate and prolonged response in tooth 17. Pre-operative periapical radiographs revealed caries almost approaching mesial pulp horns concerning tooth 16 and a typical periradicular architecture. Radiograph also revealed inadequately obturated tooth 16 and full coverage extra coronal restoration [Figure 1A and B]. Tooth 17 was diagnosed with symptomatic irreversible pulpitis with normal periapical tissues. Tooth 16 was diagnosed with previously endodontically treated. We planned for a root canal treatment in tooth 17 and a nonsurgical retreatment for tooth 16. For the sake of convenience, we have limited the description to the treatment performed only on the maxillary second molar.\nAfter taking informed consent, local anesthesia was administered using lidocaine hydrochloride 2% with adrenaline 1:80,000 (Lignospan Special; Septodont, Saint-Maur-Des-Fosse, France). Access opening was made under rubber dam isolation and magnification (OPMI Pico Carl Zeiss Meditec AG, Jena, Germany). Three mesial canals, one distobuccal (DB), and one palatal canal were detected on exploration. Coronal flaring was done (Hyflex 25/08) after negotiation with a no. 10 and 15 k file. A soft, sticky catch between the MB 3 and MB2 created doubt for the presence of the fourth mesial canal as well [Figure 1D]. The access was temporized, and a limited Field of View (FOV 5 cm x 5 cm) CBCT scan (Carestream CS9300 imaging system; Carestream Health, Inc., New York) was advised to confirm the findings.\nImage volume was reconstructed with isotropic isometric 90 mum x 90 mum x 90 mum voxels. The workstation comprised the dual monitors (Dell 24-inch nonglossy monitor (1920 x 1200 resolution) with a Dell Precision Workstation using CS 3D software (v3.5.7). CBCT revealed four canals in the mesiobuccal root, two canals in the DB root, and one palatal canal. The configuration of mesial canals was (4-1). What we had located were MB1, MB2, and MB4. A small opening for MB3 was present between MB2 and MB4, merging with MB4 in the middle third. MB1, MB2, and MB4 all joined together as one canal in the apical one third [Figure 2A-F]. There was one canal orifice at the floor for the DB canal, dividing into two and then reuniting again in the middle third and continuing as a single canal till the apex exhibiting Vertucci's Type III (1-2-1) pattern [Figure 2A-F].\nIn the next visit, working length was established using an electronic apex locator (Canal Pro, Coltene/Whaledent, GmbH + Co. KG, Germany) and reconfirmed by periapical radiographs from different angulations [Figure 1C and F]. Canals were shaped using Hyflex CM (Coltene/Whaledent Inc., OH, USA) files up to the following sizes: MB1-25/06, MB2-25/04, MB3-25/04, MB4-25/04 [Figure 1E]. The DB was shaped till 30/04, and the palatal canal up to size 40/04. After taking a master cone radiograph [Figure 1G], the final irrigation protocol was employed. Sodium hypochlorite was activated using Endoactivator (Dentsply Maillefer, Ballaigues Switzerland) followed by 17% ethylenediaminetetraacetic acid for 1 min per canal. Normal saline was used as the final flush. The canals were dried using paper points and obturated using AH Plus sealer (Dentsply, DeTrey, GmbH, Germany) employing warm vertical compaction (Elements, Sybron Endo, Glendora, CA) technique. The access cavity was restored with composite resin (Filtek P 60,3M ESPE, USA) [Figure 1H and I]. A post obturation CBCT investigation confirmed satisfactory obturation in all the canals [Figure 2G-J]. Photographs were taken directly through the microscope's eyepiece by smartphone (Moto G3, Motorola Mobility, Lenovo, China) as a beam splitter, and camera accessories were not available for documentation.\nMetal ceramic crowns were given for both the teeth. A 1, 2, and 4-year follow-up radiographs [Figure 1J-L] showed normal periradicular findings.",
"gender": "Male"
}
] |
PMC8378491
|
[
{
"age": 52,
"case_id": "PMC6051121_01",
"case_text": "A 52-year-old farmer was referred to us 7 hours after he had met with a high-velocity road traffic accident. He was resuscitated as per the ATLS protocol at the hospital where he was initially treated and when he arrived at the casualty department of our hospital, he was conscious and all his vital parameters were within normal limits. He also gave the history that he was under treatment for segmental myoclonus which was characterised by semirhythmic involuntary muscle contractions.\nHis radiographs showed a left-sided posterior acetabular wall fracture (AO type 6 2 A1). He also had an ipsilateral femoral neck fracture with the femoral head displaced anteriorly (Figures 1(a) and 1(b)) and also an associated middle-third fracture of the shaft of the femur (Figure 1(c)). He also had an extra-articular distal femur fracture on the opposite side (AO type 3 3 A1). On arrival, his serum lactate level was 1.9 mmol/l indicating that he had been adequately resuscitated.\nHe was taken for definitive surgery 9 hours after arrival. The patient was positioned in the lateral position and a posterolateral approach was planned to address the acetabular and femoral head fractures. Upon dissection, the femoral head (Figure 2(a)) was found to have buttonholed and displaced anteriorly through the capsule which was found to be torn. The posterior wall of the acetabulum was addressed using two contoured reconstruction plates (Figure 2(b)). Using the trochanteric flip osteotomy, better access to the femoral neck was achieved and the femoral head was reduced anatomically and secured with K-wires. Then the femoral shaft fracture was reduced by opening the fracture site and held with a clamp. The femoral head fracture and the shaft fracture were fixed with an antegrade femoral nail with two screws securing the femoral head (Figures 2(c) and 2(d)). The flip osteotomy was fixed using a tension band wire and the joint was reduced. The torn capsule was sutured. Closure was done in layers. The operating time was 4 hours and the intraoperative blood loss was 600 ml. Three days following this surgery, the contralateral distal femur fracture was addressed using a titanium locking plate. The postoperative period was uneventful.\nThree weeks after the initial surgeries, the patient experienced an episode of rhythmic contractions of the lower limbs at his home. He presented to us with an anterior dislocation of the left hip joint (Figures 3(a) and 3(b)). An open surgery was done to reduce the left hip joint (Figure 3(c)). Considering the displacement of the femoral head at the time of initial presentation, the chances of avascular necrosis of the femoral head was explained to the patient. The patient was also on follow-up treatment with a neurologist to manage the myoclonus problem.\nFour weeks after the surgery to relocate the femoral head, non-weight-bearing mobilization was initiated. As expected, avascular necrosis of the femoral head occurred (Figure 4(a)) and we waited for union of the femoral shaft to occur as any procedure to address the femoral head would require removal of the intramedullary nail.\nEight months after the initial surgery and after union of the femoral shaft fracture, the patient was planned for total hip replacement surgery. Through a posterior approach, the antegrade femoral nail was removed. The acetabulum was reconstructed using a cage, and an uncemented hydroxyapatite-coated stem was used for the femur (Figure 4(b)). A ceramic on a polybearing surface was used. Postoperatively, there was no shortening of the limb. Immediate full weight-bearing mobilization was started using walker support. One year following the hip replacement surgery and 22 months following the initial trauma, the patient was ambulatory without any support and able to do all activities with an LEFS (lower extremity functional score) of 72. The radiographs showed complete union of all the fractures and there was no loosening of the femoral prosthesis.",
"gender": "Male"
}
] |
PMC6051121
|
[
{
"age": 81,
"case_id": "PMC9116235_01",
"case_text": "An 81-year-old male patient presented with diagnosis of severe aortic stenosis and a history of chronic ischemic cardiopathy with previous percutaneous transluminal coronary angioplasty (PTCA) and a coronary artery bypass grafting; recent vein graft PTCA for the posterolateral branch of the circumflex artery; carotidopathy and abdominal aortic aneurism with thrombotic stratification. There were symptoms of heart failure (NYHA II), and the Heart Team opted for TA-TAVI.\nOn November 2016, the patient underwent TAVI to implant a 3-29 mm Edwards Sapien valve (Edwards Lifesciences, Irvine, CA, USA) via left anterior mini-thoracotomy. Both the operation and the immediate post-operative course were devoid of significant complications, allowing rapid weaning off pharmacological support, and extubation after 6 h. After 6 days, the patient was discharged in good general clinical and cardiocirculatory condition. The surgical site was as expected at discharge and early post-operative check-ups.\nHowever, roughly 18 months after surgery, and despite appearing in good health and totally asymptomatic, the patient was once more seen by the heart surgeon due to a previously unnoticed apex beat suggestive of left ventricular pseudoaneurism. Thoracic CT revealed a 40 x 54 x 39 mm plurilocular accumulation with density greater than fluid from the anterior wall of the left ventricle to the subcutaneous soft tissues, through the intercostal space between ribs 5 and 6; its walls were significantly enhanced after contrast. Cardiac MRI was indicative of siero-haematic accumulation with no evidence of communication with the left ventricular cavity or signs of active bleeding.\nSurgery was performed to drain the accumulation, exposing the cardiac apex and removing the sutures and foreign matter from the previous operation (sent for culture, this was negative for bacterial growth). Curettage was performed, leaving the thoracotomy open until the wound was clean. Antibiotic therapy with Daptomycin was administered in the post-op and for 2 weeks. After three weeks there was a wide, full-thickness defect in the thoracic wall exposing left ventricle movement.\nThe Plastic Surgery proposed via perforator flap repair. A portable Doppler probe was used to identify an intercostal artery perforator in the 6th intercostal space; a tear-shape flap was centred on this vessel, with the upper margin of the flap coinciding with the lower margin of the defect (Figure 1). After debridement, the flap was raised and the pedicle directly examinated. We found that the flap could be sufficiently mobilised without using the island technique, thereby sparing the inferior and medial extensions of the surgical incision. The portion of tissue distal to the perforator was de-epithelialized and used to fill the defect; fibrin sealant Tisseel (Baxter Healthcare Corp., Deerfield, IL) was applied to promote flap adhesion to the surrounding tissue and further reduce dead space (Figure 2(A-C)). The wound was closed by bringing the upper margin of the flap to the upper margin of the defect (Figure 3). Surgery time for wound cleaning and reconstruction was 100 min. At the last clinical and CT control (June 2019) the flap was completely consolidated with the thoracic tissues, scars were well healed and no distortion of the thoracic surface was noted (Figure 4(A,B)).",
"gender": "Male"
}
] |
PMC9116235
|
[
{
"age": 23,
"case_id": "PMC3956971_01",
"case_text": "A 23-year-old female presented with a 1-year history of pain in the left hip. The pain was located in the groin region and her symptom had gradually increased. At her initial visit, a physical examination of the hip revealed limited range of motion, particularly in flexion and internal rotation. Additionally, the anterior impingement test was positive with pain induced on flexion combined with internal rotation. The routine radiological examination (anterior-posterior radiograph) showed findings of DDH with a Sharp angle and centre-edge (CE) angle of 50 and 7 , respectively. The crossover sign and posterior wall sign were identified by radiography and computed tomography indicating the presence of acetabular retroversion (Fig. 1). Based on the clinical and radiological findings, a diagnosis of DDH combined with acetabular retroversion was made for this patient. Considering the persistent nature of pain and disability for the preceding year, surgical intervention was indicated. \nAt surgery, hip arthroscopy was performed prior to CPO. The surgical set-up for hip arthroscopy followed the technique reported by Philippon et al.. Under general anaesthesia, the patient was positioned supine on the fracture table that allowed independent lower extremity traction. Two portals (lateral and anterolateral) were established for the scope and the instruments. The arthroscopic examination revealed a full thickness labral tear at the anterior-superior region (Fig. 2). A labral tear was identified at the anterosuperior edge of the acetabulum, and the tear was fixed back to the rim using two suture anchors (Fig. 3). Additionally, a motorized burr and shaver were used to remove the osteochondral surface and synovium at and around the head-neck junction to avoid impingement on the repaired site. Subsequently, CPO was carried out following the technique described by Naito et al. with the patient repositioned on the operative table in supine position. Three poly-l-lactic acid screws were used to fix the reoriented acetabular fragment, while two double-threaded metal screws were used for the fixation of the osteotomized anterior superior iliac supine. The post-operative radiograph showed improved acetabular coverage of the femoral head with a resultant Sharp angle of 36 and CE angle of 50 , while the crossover sign as well as the posterior wall sign was no longer evident (Fig. 4). Post-operatively, passive motion of the operative hip was initiated on the first post-operative day. Weight-bearing was not allowed for 2 weeks. Thereafter, partial weight-bearing began with progression to full weight-bearing at 8 weeks. \nHealing of the osteotomy site and functional recovery were accomplished uneventfully during the subsequent period. Six months after the surgery, the patient returned to her original job as a nurse without left hip pain. The D'Aubigne and Postel hip score improved from 10/18 preoperatively to 17/18 at the 18-month follow-up.\nThe Review Board of the Hyogo College of Medicine approved this study (No. 1215), and the appropriate written informed consent was obtained from the patient.",
"gender": "Female"
}
] |
PMC3956971
|
[
{
"age": 25,
"case_id": "PMC8448584_01",
"case_text": "Case 1 was a 25-year-old woman receiving oral contraceptives for treating dysmenorrhea. The patient was injured in a motorcycle accident and was admitted to our hospital because of abdominal pain. Her vital signs were as follows: Glasgow Coma Scale score, 15; arterial blood pressure, 106/82 mmHg; heart rate, 88 b.p.m.; and oxygen saturation, 97%. The initial blood test results were as follows: hemoglobin level, 16.7 g/dL; platelet count, 221,000/mm3; prothrombin time, 11.7 s; activated partial thromboplastin time (APTT), 21.4 s; aspartate transaminase level, 398 IU/L; and alanine transaminase level, 349 IU/L. The contrast-enhanced computed tomography (CT) findings revealed hepatic contusion of the sixth segment based on Couinaud's classification, and classified as grade 1 according to the AAST classification. No other traumas were detected. The patient was treated conservatively and started walking the day after the injury to prevent thrombosis. Anticoagulants were not provided because of concerns regarding bleeding complications after trauma. During hospitalization, the patient was followed-up with coagulation tests, which showed an upward trend. The contrast-enhanced CT findings at 1 week after the injury revealed thrombus formation with a maximum diameter of 0.6 cm and a length of 0.2 cm (Fig. 1). During this time, the blood coagulation factor was on the rise. Unfractionated heparin treatment was initiated, and APTT was controlled at 50-60 s. At 2 weeks after the accident, the contrast-enhanced CT findings showed that the thrombus had shrunk, and the patient was discharged after replacing the anticoagulant with oral medication.",
"gender": "Female"
},
{
"age": 58,
"case_id": "PMC8448584_02",
"case_text": "Case 2 was a 58-year-old man who was injured when he was hit from behind by a motorcycle. His vital signs were as follows: Glasgow Coma Scale score, 14; arterial blood pressure, 118/99 mmHg; heart rate, 88 b.p.m.; and oxygen saturation, 94%. The initial blood test results were as follows: hemoglobin level, 15.4 g/dL; platelet count, 218,000/mm3; prothrombin time, 11.5 s; APTT, 24.3 s; aspartate transaminase level, 526 IU/L; and alanine transaminase level, 545 IU/L. The contrast-enhanced CT findings revealed hepatic contusion of the sixth segment based on Couinaud's classification, and classified as grade 1 according to the AAST classification. The patient also presented traumatic subarachnoid hemorrhage, facial bone fracture, right hemothorax, and multiple rib fractures. We treated the liver injury conservatively and followed up with contrast-enhanced CT at 1 week after the accident. The findings showed a false aneurysm of the hepatic artery at the liver injury site and a thrombus (maximum diameter, 1.5 cm; length, 6.5 cm) in the IVC (Fig. 2). As in Case 1, the patient started walking early, but was not treated with anticoagulants. The hepatic false aneurysm was treated with arterial embolization after implanting an IVC filter. At 1 week after unfractionated heparin treatment, the contrast-enhanced CT findings showed that the thrombus had shrunk. The patient was discharged after replacing the anticoagulant with oral medication.",
"gender": "Male"
}
] |
PMC8448584
|
[
{
"age": 50,
"case_id": "PMC8675622_01",
"case_text": "A 50-year-old male presented to a nephrology clinic for evaluation of persistent proteinuria. His medical history was only pertinent for seasonal allergy and a mild COVID-19 infection that did not require hospital admission 4 months prior to evaluation. He was taking no medications. Six weeks prior to presentation, the patient had developed a skin rash on his lower legs that erupted 2 weeks after he received the first dose of a SARS-CoV-2 mRNA vaccine (BNT162b2 (mRNA), Pfizer, Inc) (Figure 1). His primary care provider treated the rash with fluocinonide 0.05% cream, applied to the affected area twice daily for 1 to 2 weeks. Three weeks after the first vaccine injection, the patient received his scheduled second vaccine injection. Within 2 days, the skin rash reappeared. This time, the lesions were more severe in nature, with violaceous nonblanching papules and blisters involving the same area on his lower legs but also affecting his thighs, the dorsal aspect of his forearms, lower abdomen, upper back, and buttocks. He reported concomitant myalgias. He denied gross hematuria or dark or foamy urine. Skin biopsy revealed IgA-dominant leukocytoclastic vasculitis. The patient was treated with prednisone for 3 weeks: 60 mg daily for the first week, 40 mg daily for the second week, and 20 mg daily for the third week.\nAfter completion of 2 weeks of oral corticosteroids, urinalysis revealed proteinuria, and a nephrology consultation was requested. On examination in the nephrology clinic, the patient's vital signs were normal with blood pressure of 122/81 mmHg. Healing papules were noted on his lower extremities, but otherwise the physical examination was normal. Laboratory data are shown in Table 1. Two weeks after the second dose of vaccine, serum creatinine was normal at 0.9 mg/dL. Microscopic examination of the urinary sediment revealed acanthocytes (Figure 1). Three weeks after the second dose of vaccine, urine protein to creatinine ratio (UPCR) was 1.1 g/day. Serum complements were normal, and all pertinent serology was negative. A second UPCR repeated 1 week later (4 weeks after the second dose of vaccine) was still elevated at 0.8 g/day. Microscopic examination of the urinary sediment was repeated, and acanthocytes were again identified.\nUpon discussion of risks and benefits of establishing a diagnosis, the patient agreed to a kidney biopsy. The biopsy was performed without complications and consisted of 16 glomeruli by light and immunofluorescence microscopy with 2 globally sclerosed with diagnostic changes of an IgA nephropathy with dominant polyclonal, lambda slightly more than kappa, mesangial staining by immunofluorescence microscopy, and corresponding scattered mesangial deposits by electron microscopy. Mild mesangial hypercellularity was present in only 1 of the 16 glomeruli in the light microscopy sample, with no endocapillary hypercellularity, no segmental sclerosis, minimal (approximately 5%) interstitial fibrosis and tubular atrophy, and no crescents or necrosis (Figure 2). The findings were diagnosed as IgA nephropathy, which in the context of the skin lesions was consistent with IgA vasculitis. Although the MEST-C score has not been validated in IgA vasculitis, these lesions correspond to M0E0S0T0C0 (M=mesangial proliferation, E=endocapillary proliferation, S=segmental sclerosis, T=tubulointerstitial fibrosis, C=crescents).\nAfter the kidney biopsy, the patient began treatment with lisinopril 10 mg orally daily. No further immunosuppression was given. At a follow-up visit 1 week after the kidney biopsy, the rash had subsided completely. The UPCR 4 weeks after starting the lisinopril was 0.5 g/day. Figure 3 presents a timeline of the case.",
"gender": "Male"
}
] |
PMC8675622
|
[
{
"age": 44,
"case_id": "PMC4319252_01",
"case_text": "A 44 year old single male, presented to our outpatient department with complaints of day time excessive sleepiness, lethargy, low mood and disturbed sleep at night for the past 3 months. History revealed that these symptoms were triggered by the death of his father. On detailed evaluation, it was found that he had been on treatment for his mental illness from 2005. The course of illness was continuous characterized by withdrawn behavior, preoccupation, fear, auditory hallucinations, referential delusions and decline in social and occupational functioning. He was evaluated by a psychiatrist and started on psychotropics. During follow-up, the patient complained of episodes of depressed mood, anxiety and sleep disturbance, lethargy and sleepiness that affected his shift work, for which he was prescribed modafinil 200 mg, along with the antipsychotics Risperidone 4 mg and Amisulpride 400 mg. The patient himself gradually increased the dose to overcome the drowsiness that interrupted his shift work. He started with 100 mg every 3-4 h over a shift work of 12 h. For the last 6 months he was unable to overcome his sleepiness during work without modafinil 100 mg/h thus making a total of 1200 mg/day of modafinil which he used to obtain over the counter. He claimed to have symptoms of worsening of lethargy, tremors of hands, anxiety and erratic sleep hours when he skipped modafinil, patient reported a sense of well-being only with the drug and with the above dose.\nThere was no family history of mental illness. Physical examination was within normal limits except for fine tremors. His blood investigations gave the following values hemoglobin - 12.4 gm%;, WBC count - 6300 cells/mm3; platelet count - 2.4 lakhs/mm3;, random blood sugar - 122 mg/dl. His metabolic parameters including renal function, liver function, lipid profile were within normal limits. Electrocardiogram showed sinus rhythm and echocardiogram showed normal left ventricular function.\nThe provisional diagnosis made was schizoaffective disorder currently in partial remission. An additional diagnosis of modafinil dependence syndrome (dependence criteria as per DSM V) was made in view of the tolerance, withdrawal, inability to cut down, progressive increase in the amount of drug over a longer period of time and craving.\nThe dose was tapered slowly over a period of 1 month with 100 mg every 2-3 days and started on bupropion. He reported sleep disturbance, increased sense of body warmth, lethargy and low mood during the process of tapering the drug. Low dose of clonazepam was added to reduce the withdrawal symptoms. Patient reported significant improvement in his sleep pattern. His dysphoric mood and lethargy improved and his level of anhedonia and amotivation decreased.",
"gender": "Male"
}
] |
PMC4319252
|
[
{
"age": 27,
"case_id": "PMC6324112_01",
"case_text": "A 27-year-old Asian-Indian lady, systemically normal, with diffuse iris hypopigmentation, telecanthus, mild synophrys with a congenital white forelock treated with hair color and 20/20 vision in both eyes presented for treatment of the heterogeneous iris color [Fig. 1a]. Fundus examination revealed a sectoral superonasal hypopigmented choroid in the left eye [Fig. 1b]. Fundus autofluorescence revealed hyperautofluorescence through the hypopigmented choroidal region in the left eye [Fig. 1c], indicating unmasking of scleral autofluorescence. The patient was diagnosed as a case of Waardenburg syndrome Type 1 and was offered a cosmetic contact lens. Audiometry on both sides and gastrointestinal examination was normal.\nWaardenburg syndrome has four subtypes distinguished by their physical characteristics and sometimes by their genetic cause. Iris and choroidal hypopigmentation are central to all the subtypes [Fig. 1]. Telecanthus is more frequent in type 1, and hearing loss is more frequent in Type II. Type III includes limb anomalies predominantly of upper limb. Type IV is associated with Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. According to the phenotypic presentation, the systemic work-up to classify the patient into one of the subtypes is crucial.",
"gender": "Female"
}
] |
PMC6324112
|
[
{
"age": 22,
"case_id": "PMC6409012_01",
"case_text": "A healthy 22-year-old male presented with a two-week history of hemoptysis, weight loss of 10 pounds, generalized fatigue, and persistent night sweats. On physical examination, he had scattered rhonchi in both lungs. There was no palpable peripheral lymphadenopathy or organomegaly in the abdomen. The testes were normal to exam without palpable masses. The CT of the chest revealed innumerable pulmonary nodules concerning for metastatic disease (Figure 1). CT abdomen showed a 6.9 x 8.0 x 7.6 cm retroperitoneal mass. An US of the testicles was done showing an ill-defined hypoechoic structure measuring 8 mm within the right testicle. He underwent a CT-guided lung nodule biopsy, which revealed metastatic choriocarcinoma. The serum B-hCG level was 274,465 IU/L. The patient underwent right orchiectomy consistent with choriocarcinoma. A diagnosis of stage IIIC choriocarcinoma of the right testis with metastasis to the retroperitoneum and lungs was made. He delayed the treatment to seek another opinion and elected to proceed with sperm banking. 16 days after diagnosis, the patient returned to the emergency department with worsened hemoptysis, melena, tachycardia, tachypnea, and hypoxia. His serum B-hCG level had increased to 1,629,195 IU/L. The patient was transferred to the medical intensive care unit, and chemotherapy was started on an urgent basis with etoposide, ifosfamide, and cisplatin (VIP) with mesna support.\nOver the next few days, his respiratory status declined as he developed severe acute respiratory distress syndrome and, therefore, was intubated. Due to the high tumor burden and worsening of his clinical status after the initiation of chemotherapy, a diagnosis of choriocarcinoma syndrome was made. He completed 5 days of planned chemotherapy but remained in critical condition needing increased ventilator support. In spite of maximal respiratory support, the patient remained hypoxic. Extracorporeal membrane oxygenation was considered, but due to gastrointestinal bleeding, he was not a candidate. He eventually passed away due to hypoxic cardiac arrest.",
"gender": "Male"
}
] |
PMC6409012
|
[
{
"age": 60,
"case_id": "PMC5366790_01",
"case_text": "A 60-year-old man from a rural area of Saltillo, northern Mexico, came to our institution presenting an ulcerated lesion on the left lateral border of the tongue of 1.5 cm of diameter. According to the patient the lesion has been growing for the last 5 months (Figure 1). He is a nonsmoker, with no evidences of any systemic disease. Considering the clinical aspects, age of the patient, and poor oral health, epidermoid carcinoma was considered as diagnosis. After an excisional biopsy the diagnosis was of coccidioidomycosis (Figure 2).\nHistology demonstrated a granulomatous lesion with abundant lymphoplasmacytic chronic inflammatory infiltrate and multinucleated giant cells with spherical cytoplasmic inclusions of different size which correspond to the infectious agent C. immitis (Figures 3-6).",
"gender": "Male"
}
] |
PMC5366790
|
[
{
"age": 79,
"case_id": "PMC6899263_01",
"case_text": "A 79-year-old male was diagnosed with prostate cancer in 2003 after a screening prostate-specific antigen (PSA) level of 7 ng/mL, alongside a firm prostate upon digital rectal examination. A transrectal ultrasound (TRUS) guided biopsy at the time revealed a Gleason score of 7 (4 + 3) adenocarcinoma of the prostate. He underwent an open retropubic radical prostatectomy with bilateral pelvic lymph node dissection. The final pathology result revealed a Gleason score of 7 (4 + 3) adenocarcinoma with prostatic capsule and seminal vesicle involvement as well as perineural invasion. Studies were consistent with a pT3bN0M0R0 disease; surgical margins were negative. Postsurgical PSA dropped to a nadir of less than 0.02 ng/mL.\nThree years after his surgery, his PSA level gradually rose to 0.5 ng/mL for which he was started on adjuvant external beam radiation therapy (EBRT) and intermittent androgen deprivation therapy (ADT) using Goserelin acetate. Consequently, his PSA dropped down to less than 0.02 ng/mL yet rose back up to a level of 1.06 ng/mL in November 2010, i.e., seven years post operation (Figure 1). During that time, the patient was maintained on continuous ADT.\nThroughout the years, his PSA levels were steadily increasing; an abrupt rise in PSA to 3.9 ng/mL was noted in January 2019, sixteen years post operation (Figure 1). Physical exam at the time revealed a normal genitourinary examination along with a flat prostatic fossa upon digital rectal examination. Urine culture at the time was also negative. Upon that, a PET/CT 68Gallium-PSMA (prostate-specific membrane antigen) scan was performed for adequate restaging of his primary disease. A single focal radiotracer uptake was noted in the left testicle with a maximal SUV of 9.3 mSv (Figures 2(a) and 2(b)). There was no other uptake neither in the surgical bed, in the pelvic lymph nodes, nor in the bones.\nA dedicated pelvic magnetic resonance imaging (MRI) was done to further characterize the testicular findings. Several poorly defined hypointense left testicular lesions were found, the largest one measuring 1.8 cm, at the level of the rete testis (Figures 2(c) and 2(d)).\nFollowing a multidisciplinary tumor board meeting, consensus was to proceed with bilateral simple orchiectomy for the purpose of surgical castration as well as pathologic examination of this left testicular lesion (Figure 3(a)). Pathology studies revealed a metastatic adenocarcinoma of prostatic origin (Figures 3(b) and 3(c)). Postorchiectomy, his PSA level dropped back to 0.02 ng/mL.",
"gender": "Male"
}
] |
PMC6899263
|
[
{
"age": 66,
"case_id": "PMC9253533_01",
"case_text": "After obtaining the approval of the local ethics committee (Section Giovanni Paolo II- IRCCS Casa Sollievo della Sofferenza) and written informed consent, we report the case of a 66-year-old man with a history of hypertension and ocular MG. This disorder was diagnosed 2 years before the pandemic onset by electromyography (EMG) and frontal muscle jitter study at the neurology unit of our hospital (Figure 1). AChR antibodies were detected, and and the thymoma ascertainment results were negative. He undertook pharmacology therapy consisting of pyridostigmine at a dosage of 30 mg three times daily, which was efficacious in treating myasthenic symptoms. The strength quantification performed by the Medical Research Council (MRC) was normal before the pandemic. At the beginning of December 2020, he developed fever, cough, myalgia, and dyspnea with progressive severe respiratory failure, which required ICU admission. He underwent chest computer tomography (CT) and nasopharyngeal swab that were positive for COVID-19 and was treated with remdesivir and corticosteroids. The patient underwent mechanical ventilation and tracheotomy. Laboratory tests did not detect an increase in the serum CK level. He also developed infections caused by multi-drug resistant germs, including Klebsiella pneumonia, Acinetobacter baumannii, and Pseudomonas aeruginosa, and underwent multiple antibiotic therapies. The Simplified Acute Physiology Score was 35. During the ICU stay, 15 days after admission, he complained of muscle weakness that evolved into the manifestation of tetraparesis without ocular involvement. Despite this development, pyridostigmine was increased to 60 mg three times daily; the strength remained unchanged. The length of stay (LOS) in ICU was 35 days. After improvement of the clinical conditions, the patient was transferred to our neuro-rehabilitation (NR) unit. At admission, the patient breathed spontaneously but needed 3 L/m oxygen by mask. Capillary oximetry was 97%; he had a central venous catheter, a tracheal tube, and a nasal-gastric tube for nutrition. The neurological picture showed severe tetraparesis that involved predominantly the lower limbs, and he had absent tendinous reflexes. No deficit in ocular or facial muscles was detected, and superficial and deep sensibilities were normal. Given the neurological feature, on day 2 of admission, the patient underwent electroneurography (ENG), electromyography (EMG), and frontal muscle jitter study that confirmed MG and showed overlapping ICUAW. In this respect, the electrophysiological exam revealed signs characteristic of CIP (Table 1). However, a lumbar puncture was performed, and cerebrospinal fluid (CSF) was collected and processed for standard analysis to exclude Guillain-Barre syndrome and polyneuropathies of different etiology. Pressure, cell count, and protein levels (<45 mg/dl) of the CSF were normal without albumin-cytologic disassociation. CSF/serum glucose ratio was normal. The CSF culture results for possible organisms, such as human immunodeficiency virus, hepatitis B virus, hepatitis C virus, bacteria, Mycobacterium tuberculosis, fungi, Borrelia, enteroviruses, Herpes viruses, and CMV, were negative. Similarly, the laboratory test for autoimmune disorders, including lupus anticoagulant, anticardiolipin antibodies, a panel of antiganglioside antibodies, including anti-GM1, -GM2, -GM3, -GD1a, -GD1b, -GT1b, and -GQ1b, and a panel for paraneoplastic syndrome, were negative.\nStrength and functional evaluation were quantified through the MRC scale sum-score, the Disability Rating scale (DRS), the Barthel scale (BS), and the functional independence measure (FIM) at admission, discharge, and 6 months of follow-up. During NR stay, the patient underwent a personalized and tailored rehabilitation treatment for 3 h daily, 6 days a week. Furthermore, he performed 2 h of daily electrical muscular stimulation on the lower limbs by placing surface electrodes on the quadriceps and anterior tibial muscles bilaterally. The muscular strength improved progressively, and the MRC sum score was 50 at discharge. The anticholinesterase therapy with pyridostigmine at the dosage of 30 mg three times daily, the same that the patient was taking before he had COVID-19, was resumed. His motor abilities recovered and, at discharge, he was able to walk without support but remained with left foot drop, which required the application of an ankle-foot orthosis (AFO). Furthermore, he complained of mild fatigue with reduced endurance, which improved over time. At follow-up, the MRC scale sum score and all functional scale scores resulted to be normal (Table 2). The LOS in neuro-rehabilitation was 42 days.",
"gender": "Male"
}
] |
PMC9253533
|
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