OpenMed/multicare-articles huggingface dataset:
Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis
Authors: Aayush Gupta, Yugal Sharma, Kirti Deo, Shamsudheen Vellarikkal, Rijith Jayarajan, Vishal Dixit, Ankit Verma, Vinod Scaria, Sridhar Sivasubbu
Journal: F1000Res (2015)
Keywords: lamellar ichthyosis, tgm1, whole exome sequencing, chr22q12, genodermatosis

Lamellar ichthyosis (LI), considered an autosomal recessive monogenic genodermatosis, has an incidence of approximately 1 in 250,000. Usually associated with mutations in the transglutaminase gene ( TGM1), mutations in six other genes have, less frequently, been shown to be causative. Two siblings, born in a collodion membrane, presented with fish like scales all over the body. Karyotyping revealed duplication of the chromosome arm on 22q12+ in the father and two siblings. Whole exome sequencing revealed a homozygous p.Gly218Ser variation in TGM1; a variation reported earlier in an isolated Finnish population in association with autosomal recessive non-syndromic ichthyosis. This concurrence of a potentially benign 22q12+ duplication and LI, both rare individually, is reported here likely for the first time.
Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array
Authors: Pingping Zhang, Yanmei Sun, Ping Huo, Haishen Tian, Jian Gao, Yali Li
Journal: Mol Cytogenet (2020)
Keywords: chromosomal microarray analysis, deletion of 4q322q323, genetic counselling, variant of unknown significance
MeSH terms: Case Reports

Background:
Although Chromosomal microarray analysis (CMA) is a powerful diagnostic technology for detecting chromosomal copy number variants (CNVs), it detects numerous variants of unknown significance (VUSs), which poses a great challenge for genetic counselling. Terminal deletion of the long arm of chromosome 4 is a rare genetic aberration. Few cases of interstitial deletion sharing the common deleted segment have been reported.
Case presentation:
A male foetus with a 7.22-Mb deletion at chromosome 4q32.2q32.3 was found in the proband. The paternal genotype was normal. His asymptomatic mother with a normal phenotype and intelligence was found to carry the same deletion at the long arm of chromosome 4. The clinical significance of arr[GRCh37] 4q32.2q32.3(162858958_170081268)×1 remains uncertain. To the best of our knowledge, this is the first case report on a VUS of 4q32 deletion and the second report of a heterochromatic CNV involving part of the long arm of chromosome 4 in a phenotypically normal mother and child. The identification of this case contributes to additional understanding of deletion at 4q32.2q32.3. This report may provide a reference for prenatal diagnosis and genetic counselling in patients who have genotypes of similar cytogenetic abnormalities.
Conclusions:
The novel 7.22-Mb deletion at chromosome 4q32.2q32.3 (162858958-170081268) is a VUS. The foetus inherited this VUS from a phenotypically normal mother.
Enhanced Vestibulo-Ocular Reflex Responses on vHIT. Is It a Casual Finding or a Sign of Vestibular Dysfunction?
Authors: Jorge Rey-Martinez, Ann M Burgess, Ian S Curthoys
Journal: Front Neurol (2018)
Keywords: meniere disease, enhanced eye velocity, hydrops, sign, vhit
MeSH terms: Case Reports

In current clinical practice, when in response to vHIT testing the observed slow-phase eye-velocity responses are significantly higher than head velocity, the most probable cause is considered to be an inadequate collection method or a recording artifact. We present two cases with clinical diagnoses of Menière's Disease: for both cases, enhanced eye velocity responses were measured with a rigorous vHIT testing protocol. In the first case we measured these enhanced responses on each test performed during a 5 year time series; in the second case multiple measurements were obtained from a patient after the radiologic diagnosis of vestibulo-cochlear hydrops. The two cases presented and the new evidence reported by other researchers suggest that owing to the low probability of artifact and the high consistency of the vHIT measurements, we should consider the hypothesis of a physio-pathologic cause for the enhanced eye responses to vHIT testing of some patients with vestibular dysfunction.
Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations
Authors: Christina S Chao, Kristen D McKnight, Kenneth L Cox, Anne L Chang, Seung K Kim, Brian J Feldman
Journal: PLoS One (2015)
MeSH terms: GATA6 Transcription Factor / genetics, Heart Defects, Congenital / genetics, Mutation, Pancreas / abnormalities, Pancreatic Diseases / congenital, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Humans, Infant, Newborn, Male, Pancreatic Diseases / genetics, Transcription, Genetic, GATA6 Transcription Factor, GATA6 protein, human, Pancreatic Agenesis, Congenital

Patients with pancreatic agenesis are born without a pancreas, causing permanent neonatal diabetes and pancreatic enzyme insufficiency. These patients require insulin and enzyme replacement therapy to survive, grow, and maintain normal blood glucose levels. Pancreatic agenesis is an uncommon condition but high-throughput sequencing methods provide a rare opportunity to identify critical genes that are necessary for human pancreas development. Here we present the clinical history, evaluation, and the genetic and molecular analysis from two patients with pancreatic agenesis. Both patients were born with intrauterine growth restriction, minor heart defects and neonatal diabetes. In both cases, pancreatic agenesis was confirmed by imaging studies. The patients are clinically stable with pancreatic enzymes and insulin therapy. In order identify the etiology for their disease, we performed whole exome sequencing on both patients. For each proband we identified a de novo heterozygous mutation in the GATA6 gene. GATA6 is a homeobox containing transcription factor involved in both early development of the pancreas and heart. In vitro functional analysis of one of the variants revealed that the mutation creates a premature stop codon in the coding sequence resulting in the production of a truncated protein with loss of activity. These results show how genetic mutations in GATA6 may lead to functional inactivity and pancreatic agenesis in humans.
Melioidosis with Portal Vein Thrombosis
Authors: Thanyaporn Direksunthorn
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Melioidosis, caused by Burkholderia pseudomallei, is a common infectious disease in tropical regions. The author reports a case of melioidosis with a rare manifestation of portal vein thrombosis and cavernous transformation of the portal vein. Melioidosis should be considered a differential diagnosis in patients with underlying risk factors who present with multiple liver abscesses; moreover, portal vein thrombosis can be a potential complication. Computed tomography is the modality of choice to demonstrate venous thrombosis in various organs.
Robot-assisted laparoscopic repair of perineal hernia after abdominoperineal resection: A case report and review of the literature
Authors: Pooya Rajabaleyan, Allan Dorfelt, Peiman Poornoroozy, Per Vadgaard Andersen
Journal: Int J Surg Case Rep (2019)
Keywords: abdominoperineal resection, case report, extralevator abdominoperineal excision, perineal hernia, robotic-assisted laparoscopic repair, synthetic mesh

Introduction:
Perineal hernia is a protrusion of the pelvic floor containing intra-abdominal viscera. The occurrence of postoperative perineal hernia after abdominoperineal resection (APR) is rare, but reports have indicated a recent increase in occurrence following surgical treatment for rectal cancer. This has been attributed to a shift towards extralevator abdominoperineal resection, together with more frequent and long-term use of neoadjuvant therapy.
Presentation of case:
Here, we report the case of a patient who underwent APR for cancer. Twenty months postoperative, a perineal hernia was detected. The patient was electively scheduled for surgery. Robot-assisted laparoscopy was performed using the da Vinci Surgical System. The perineal hernia was repaired by primary closure with the placement of Symbotex Composite mesh as reinforcement for the pelvic floor. The surgery was performed without any adverse events, and the patient was discharged the day after surgery. Clinical follow-up proceeded at the designated time intervals without difficulties.
Discussion:
Recurrence rates of perineal hernia remain high, and surgeons face numerous challenges related to poor view, suturing and mesh placement in the deep pelvis. Numerous approaches have been described, but there is still no consensus as to the optimal repair technique for perineal hernia.
Conclusion:
Symptomatic perineal hernias can feasibly be repaired with robot-assisted laparoscopy. Furthermore, suturing and mesh placement require less effort with the robot approach when compared to the open and laparoscopic approaches. These promising findings are demonstrated in the included video.
Case Report: Outcome of Osimertinib Treatment in Lung Adenocarcinoma Patients With Acquired KRAS Mutations
Authors: Weigang Xiu, Qianqian Zhang, Min Yu, Yin Huang, Meijuan Huang
Journal: Front Oncol (2021)
Keywords: acquired kras mutation, drug-resistance, immune checkpoint inhibitor, non–small cell lung cancer, osimertinib
MeSH terms: Case Reports

Background:
Osimertinib belongs to the third-generation epidermal growth factor receptor tyrosine kinase inhibitor that has shown positive effects in treating lung adenocarcinoma cancer. However, the subsequent resistance to Osimertinib has become a clinical challenge.
Case presentation:
We present two lung adenocarcinoma cases that developed a resistance to Osimertinib. Among them, one patient attained both KRAS exon 2 and exon 3 mutations and was given paclitaxel (albumin-bound) plus carboplatin. The other patient exhibited a KRAS exon 3 mutation, so the paclitaxel (albumin-bound) plus nivolumab was administered. Eventually, the second patient manifested a better clinical outcome than the first.
Conclusion:
These results provide supporting evidence that KRAS exon 3 (R68S) mutations may be associated with Osimertinib resistance in lung adenocarcinoma patients. This further reveals the relationship between subtypes of acquired KRAS mutations and the effect of therapeutic approaches. Moreover, the combination of chemotherapy and immune checkpoint inhibitors may generate a satisfying disease control.
Pheochromocytoma presenting as recurrent urinary tract infections : a case report
Authors: Roisin T Dolan, Joseph S Butler, Gerard P Mentee, Maria Byrne
Journal: J Med Case Rep (2011)

Introduction:
Pheochromocytomas are rare, potentially fatal, neuroendocrine tumors of the adrenal medulla or extra-adrenal paraganglia. Their clinical presentation varies greatly from the classic triad of episodic headache, diaphoresis and tachycardia to include a spectrum of non-specific symptomatology.
Case presentation:
A 43-year-old Caucasian woman was referred to us from primary care services with a three-month history of recurrent urinary tract infections on a background of hypertension, latent autoimmune diabetes of adulthood and autoimmune hypothyroidism. At 38 years she required insulin therapy. Despite medication compliance and dietary control, she reported a recent history of increased insulin requirements and uncontrolled hypertension with concomitant recurrent urinary tract infections. A renal ultrasound examination, to rule out underlying renal pathology, revealed an incidental 8cm right adrenal mass of both solid and cystic components. A subsequent computed tomography of her abdomen and pelvis confirmed a solid heterogeneous mass consistent with a pheochromocytoma. There were no other features suggestive of multiple endocrine neoplasia. Urinary collection over 24 hours revealed grossly elevated levels of catecholamines and metabolites. Following an open right adrenalectomy, our patient's insulin requirements were significantly reduced and her symptoms resolved. Two weeks post-operatively, an iodine-131-metaiodobenzylguanidine scintigraphy was negative for residual tumor and metastatic disease. Urinary catecholamine and metabolite concentrations were within the normal range at a follow-up six months later.
Conclusion:
Pheochromocytoma is a rare catecholamine-producing tumor requiring a high index of suspicion for early diagnosis. Our case report serves to highlight the importance of considering pheochromocytoma as a differential diagnosis in the atypical setting of recurrent urinary tract infections and concomitant autoimmune disease.
Short Bowel Syndrome and Kidney Transplantation: Challenges, Outcomes, and the Use of Teduglutide
Authors: Elizabeth Abou Diwan, Ankit B Patel, Alex G Cuenca, Nahel Elias, Hannah M Gilligan, Eliot Heher, David E Leaf, David Wojciechowski, Kassem Safa
Journal: Case Rep Transplant (2020)
MeSH terms: Case Reports

Among patients with short bowel syndrome who commonly have kidney disease, kidney transplantation remains challenging. We describe the clinicopathologic course of a 59-year old man with short bowel syndrome secondary to Crohn's disease who underwent a deceased donor kidney transplant that was complicated by recurrent acute kidney allograft injury due to volume depletion from diarrhea, ultimately requiring the placement of permanent intravenous access for daily volume expansion at home resulting in the recovery of allograft function. Teduglutide treatment at 1.8 years post-transplant led to a dramatic decrease in diarrhea. A literature review of similar cases yielded 18 patients who underwent 19 kidney transplants. Despite high rates of complications, at the time of last follow-up (median 2.1 years [0.04-7]), 94% of the patients were still alive and 89% had functioning allografts, with a median eGFR of 37.5 [14-122] ml/min/1.73m2. In conclusion, despite high rates of complications, kidney transplantation in patients with short bowel syndrome is associated with acceptable short- and midterm outcomes. Further, we report for the first time the effects of the glucagon-like peptide-2 analogue teduglutide for short bowel syndrome in a kidney transplant recipient.
Familial adenomatous polyposis syndrome with colorectal cancer in two Nigerians: a report of two cases and review of literature
Authors: Matthew Olumuyiwa Bojuwoye, Abdulfatai Bamidele Olokoba, Olumuyiwa Ayotunde Ogunlaja, Sulaiman Olayide Agodirin, Olatunde Kazeem Ibrahim, Kenechukwu Chukwuemeka Okonkwo, Aminu Mansa Aliyu
Journal: Pan Afr Med J (2018)
Keywords: familial adenomatous polyposis syndrome, adenomatous polyps, colorectal cancer, gastrointestinal bleeding
MeSH terms: Adenomatous Polyposis Coli / diagnosis, Colorectal Neoplasms / diagnosis, Gastrointestinal Hemorrhage / etiology, Case Reports, Review, Adenomatous Polyposis Coli / pathology, Colonoscopy / methods, Colorectal Neoplasms / pathology, Humans, Male, Middle Aged, Nigeria

Familial adenomatous polyposis syndrome is a rare condition characterized by the presence of numerous adenomatous polyps in the gastrointestinal tract and associated with risk for colorectal cancer. The disease is scarcely reported in Nigeria and this is the index report in Ilorin. Two cases were clinically diagnosed in our facility. They both presented with gastrointestinal bleeding and numerous rectal and colonic polyps were identified at colonoscopy. Histological examination of the polyps in both cases revealed features in keeping with adenomatous polyps. This report highlights the occurrence of this precancerous condition.
Disseminated Mycobacterium chimaera Presenting as Vertebral Osteomyelitis
Authors: Daphne M Moutsoglou, Frank Merritt, Ethan Cumbler
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Mycobacterium chimaera, a member of the Mycobacterium avium complex, is a slow-growing, nontuberculous mycobacterium associated with outbreaks in cardiac-surgery patients supported on heart-lung machines. We report a case of an elderly woman on chronic prednisone who presented with a six-month history of worsening chronic back pain, recurrent low-grade fevers, and weight loss. Imaging identified multilevel vertebral osteomyelitis and lumbar soft-tissue abscess. Abscess culture identified M. chimaera.
Uveal Melanoma Metastasis to the Thyroid
Authors: Rokshana R Thanadar, Uzma M Siddiqui, Shi Bai, Runhua Hou
Journal: Case Rep Endocrinol (2023)
MeSH terms: Case Reports

Background:
Around 1.2 to 3.1% of thyroid malignancies are due to metastasis. Among them, cutaneous malignant melanomas constitute 4% of malignancy metastasized to the thyroid. Uveal melanoma is uncommon, and its metastasis to the thyroid has only rarely been reported. Hereby, we describe an unusual case of uveal melanoma metastasized to the thyroid and discuss the concept of correct diagnosis. Case Report. During a routine ophthalmological examination, an 86-year-old Caucasian female was found to have retinal detachment secondary to choroidal melanoma. She was treated with gamma knife which resulted in reduction of tumor size. Three months later, she was noted to have a goiter on physical examination. Follow-up thyroid ultrasonography demonstrated numerous vascularized nodules in both lobes. The fine needle aspiration (FNA) of the left dominant nodule was indeterminate the first time and nondiagnostic the second time. FNA of the right dominant nodule was nondiagnostic twice but showed malignant cells the third time. Subsequent immunohistochemistry staining of the FNA sample from the right thyroid nodule confirmed a profile consistent with malignant melanoma.
Conclusion:
It should be kept in mind that a thyroid nodule detected in a patient with a diagnosis of uveal melanoma can be metastasis and that uveal melanoma diagnosis should be taken into account for the examination of the thyroid tumors of these patients. It is important to employ immunohistochemical staining FNA examination of the patient with such tumors for markers associated with a patient's known malignancy to facilitate diagnosis.
Abiotrophia defectiva endophthalmitis following routine cataract surgery: the first reported case in the United Kingdom
Authors: Madalina Chihaia, James Richardson-May, Layth Al-Saffar, Hiron Kettledas, Mohammed Rashid
Journal: Access Microbiol (2020)
Keywords: abiotrophia defectiva, cataract, endophthalmitis, eye, ophthalmology
MeSH terms: Case Reports

Introduction:

Abiotrophia defectiva is a fastidious organism that has been implicated in severe infections such as endocarditis in immunocompetent patients. Modern tools are available to aid identification, but the main challenge remains clinical suspicion of A. defectiva .
Case presentation:
An otherwise fit and well 65-year-old female presented with reduced vision, red eye and discomfort 2 days following routine left cataract surgery. She had visual acuity of light perception only, significant anterior chamber inflammation (including hypopyon) and limited fundal view. She was diagnosed with post-operative endophthalmitis and 0.1 ml of ceftazidime (2 mg/0.1 ml) and 0.1 ml vancomycin (2 mg/0.1 ml) were injected intravitreally after vitreous aspiration. Subconjunctival cefuroxime was also injected. A repeat injection was performed on day three of admission. Gram staining revealed Gram-positive long-chain cocci, which were identified as A. defectiva . The patient was discharged on oral ciprofloxacin 500 mg twice a day with oral prednisolone 60 mg once a day; this was tapered and stopped at 8 weeks post-discharge. The left eye received dexamethasone 0.1 % 6 times a day (again, tapered over 8 weeks), moxifloxacin 5 % 6 times a day and atropine 1 % twice a day. Vision improved to 6/12 unaided (6/9.5 with pinhole) at 9 weeks post-operatively, with a clear fundal view.
Conclusion:
We present a case of A. defectiva endophthalmitis following routine cataract surgery. To our knowledge, this is the first reported case in the UK and the fourth globally, which with prompt treatment ended with a good visual outcome.
The epithelioid blue nevus: A rare intraoral nevomelanocytic tumor
Authors: Atef Hanna, Swati Y Rawal, Kenneth M Anderson, Yeshwant B Rawal
Journal: J Oral Maxillofac Pathol (2011)
Keywords: blue, epithelioid, melanocytic, mucosal, nevus
MeSH terms: Case Reports

The epithelioid blue nevus (EBN) is considered a cutaneous marker of the Carney complex. Sporadic EBN has been reported in patients not exhibiting the Carney complex. The EBN does not exhibit unique clinical features that help to differentiate it from other lesions and is often provisionally diagnosed as an acquired melanocytic nevus, or a malignant melanoma. A 52-year-old African-American female had a 3-4 mm bluish macule of the left anterior hard palate. An excisional biopsy was performed to rule out an incipient melanoma. Formalin-fixed, hematoxylin and eosin-stained sections were examined microscopically. On the basis of histopathological features, a diagnosis of EBN was rendered. We document a case of the rare EBN affecting the oral mucosa. The patient did not exhibit any features associated with the Carney complex. Two years post-operatively, there is no evidence of a recurrent tumor.
Thrombotic thrombocytopenic purpura following ChAdOx1 nCov-19 vaccination: A case report
Authors: Bahareh Shateri Amiri, Hanieh Radkhah, Reza Taslimi, Zahra Shahbazi Dastjerdi, Mohamad Mehdi Khadembashiri, Milad Gholizadeh Mesgarha, Shiva Rahimipour Anaraki
Journal: IDCases (2023)
Keywords: azd1222, astrazeneca, microangiopathic hemolytic anemia, sars-cov-2, thrombotic microangiopathy, vaccine
MeSH terms: Case Reports

Vaccine-associated thrombotic thrombocytopenic purpura (TTP) is a rare type of acquired TTP recently reported after COVID-19 vaccination. Merely four cases are ascribed to the ChAdOx1 nCoV-19 vaccine in the medical literature till the preparation of this study. In this case report, we describe a 43-year-old man who developed symptoms of TTP four days after receiving the second dose of the ChAdOx1 nCoV-19 vaccine. Peripheral blood smear demonstrated multiple schistocytes. Given a high plasmic score, he received plasma exchange, corticosteroids, and rituximab, and later, low ADAMTS 13 activity and high-titer ADAMTS inhibition antibody confirmed the diagnosis of COVID-19 vaccine-associated TTP. COVID-19 vaccine-associated TTP is an infrequent consequence of SARS-CoV-2 vaccination but with a substantial mortality rate which must be considered as one of the crucial differential diagnoses of post-COVID-19 vaccine thrombocytopenia besides vaccine-induced immune thrombotic thrombocytopenia and Immune thrombocytopenic purpura.
A Case of Concurrent Riedel's, Hashimoto's and Acute Suppurative Thyroiditis
Authors: I Pirola, M L Morassi, M Braga, E De Martino, E Gandossi, C Cappelli
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Riedel's thyroiditis (RT) is a rare form of infiltrative and inflammatory disease of the thyroid, first described by Bernard Riedel in 1896. The concurrent presence of RT and other thyroid diseases has been reported, but, the association of RT with Hashimoto's thyroiditis and acute thyroiditis has not yet been reported. We present a case of concurrent Riedel's, Hashimoto's and acute thyroiditis that occurred in a 45-year-old patient.