OpenMed/multicare-articles huggingface dataset:
Case Report: A Pediatric Case of Familial Mediterranean Fever Concurrent With Autoimmune Hepatitis
Authors: Mariko Aoki, Kazushi Izawa, Takayuki Tanaka, Yoshitaka Honda, Takeshi Shiba, Yukako Maeda, Takayuki Miyamoto, Keisuke Okamoto, Masahiko Nishitani-Isa, Hiroshi Nihira, Kohsuke Imai, Junko Takita, Ryuta Nishikomori, Eitaro Hiejima, Takahiro Yasumi
Journal: Front Immunol (2022)
Keywords: autoimmune hepatitis (aih), familial mediterranean fever (fmf), functional analysis, liver injury, pediatric case report
MeSH terms: Familial Mediterranean Fever / complications, Familial Mediterranean Fever / diagnosis, Familial Mediterranean Fever / drug therapy, Hepatitis, Autoimmune / complications, Hepatitis, Autoimmune / diagnosis, Hepatitis, Autoimmune / drug therapy, Case Reports, Research Support, Non-U.S. Gov't, Arthralgia, Child, Colchicine / therapeutic use, Humans, Male, Mutation, Pyrin / genetics, MEFV protein, human, Pyrin, Colchicine

Familial Mediterranean fever (FMF) is a hereditary, autoinflammatory disease that causes recurrent fever, arthritis, and serositis. The diagnosis of FMF is based on the presentation of typical clinical symptoms and the Mediterranean fever gene (MEFV) test. However, the challenge lies in diagnosing atypical cases. In this report, we have described a pediatric patient with complex FMF whose diagnosis required trio-whole exome sequencing (WES) and functional validation of a rare MEFV variant. A 3-year-old boy presented with recurrent episodes of elevated liver enzymes and arthralgia. He was diagnosed with autoimmune hepatitis (AIH), and his liver enzymes improved rapidly with steroid treatment. However, he exhibited recurrent arthralgia and severe abdominal attacks. Trio-WES identified compound heterozygous mutations in MEFV (V726A and I692del). Ex vivo functional assays of the patient's monocytes and macrophages, which had been pre-treated with Clostridium difficile toxin A (TcdA) and colchicine, were comparable to those of typical FMF patients, thereby confirming the diagnosis of FMF. Although he was intolerant to colchicine because of liver toxicity, subsequent administration of canakinumab successfully ameliorated his abdominal attacks. However, it was ineffective against liver injury, which recurred after steroid tapering. Therefore, in this case, the pathogenesis of AIH was probably interleukin-1β (IL-1β)-independent. In fact, AIH might have been a concurrent disease with FMF, rather than being one of its complications. Nevertheless, further studies are necessary to determine whether FMF-induced inflammasome activation contributes to AIH development. Moreover, we must consider the possibility of mixed phenotypes in such atypical patients who present distinct pathologies simultaneously.
Atypical hemolytic uremic syndrome triggered by mRNA vaccination against SARS-CoV-2: Case report
Authors: Romana Rysava, Martina Peiskerova, Vladimir Tesar, Jan Benes, Martin Kment, Ágnes Szilágyi, Dorottya Csuka, Zoltán Prohászka
Journal: Front Immunol (2022)
Keywords: acute kidney injury, atypical hemolytic uremic syndrome, complement, eculizumab, genetic risk, mrna vaccine against sars-cov-2, ravulizumab, thrombotic microangiopathies
MeSH terms: Acute Kidney Injury / complications, Atypical Hemolytic Uremic Syndrome / diagnosis, Atypical Hemolytic Uremic Syndrome / genetics, COVID-19, Case Reports, Research Support, Non-U.S. Gov't, Antibodies, Monoclonal, COVID-19 Vaccines / adverse effects, Complement Factor H / genetics, Complement System Proteins / genetics, Female, Humans, RNA, Messenger, SARS-CoV-2, Vaccination / adverse effects, mRNA Vaccine, Complement Factor H, RNA, Messenger, COVID-19 Vaccines, Complement System Proteins, Antibodies, Monoclonal

Atypical hemolytic uremic syndrome (aHUS), also called complement-mediated hemolytic uremic syndrome (CM-HUS), is a rare disease caused by dysregulation in the alternative complement activation pathway. It is a life-threatening condition causing ischemia of a number of organs, and it typically causes acute kidney injury. This disorder may be triggered by various factors including viral or bacterial infections, pregnancy, surgery, and injuries. In about 60% of cases, the genetic origin of the disease can be identified-commonly mutations affecting complementary factor H and MCP protein. Eculizumab, a monoclonal antibody to the C5 component of the complement, represents the current effective treatment.We describe a case of a young woman with a previous history of polyvalent allergies, who developed atypical hemolytic uremic syndrome after vaccination with mRNA vaccine against SARS-CoV-2. The disease manifested by scleral bleeding, acute renal insufficiency, anemia, and thrombocytopenia. The patient was treated with plasma exchanges without sufficient effect; remission occurred only after starting treatment with eculizumab. Genetic examination showed that the patient is a carrier of multiple inherited risk factors (a rare pathogenic variant in CFH, MCPggaac haplotype of the CD46 gene, and the risk haplotype CFH H3). The patient is currently in hematological remission with persistent mild renal insufficiency, continuing treatment with eculizumab/ravulizumab. By this case report, we meant to point out the need for careful monitoring of people after vaccination, as it may trigger immune-mediated diseases, especially in those with predisposing factors.
The No-Win Resuscitation: Ventricular Septal Rupture and Associated Acute Aortic Occlusion
Authors: Jan-Thorben Sieweke, Jens Vogel-Claussen, Andreas Martens, Jörn Tongers, Andreas Schäfer, Johann Bauersachs, L Christian Napp
Journal: Case Rep Crit Care (2018)
MeSH terms: Case Reports

A 66-year-old patient was admitted under continuous resuscitation for pulseless electrical activity. After return of spontaneous circulation ECG showed signs of acute inferior ST-elevation myocardial infarction, and echocardiography showed acute right ventricular failure with a dilated right ventricle. Carotid pulses were present in the absence of femoral pulses. Subsequent computed tomography demonstrated inferior myocardial infarction with ventricular septal rupture and thrombotic occlusion of the thoracic aorta, resulting in a heart-brain-circulation with loss of perfusion downstream of the aortic arch. Teaching Points. The present case prototypically demonstrates the fatal consequence of acute ventricular septal rupture and the eminent value of computed tomography and palpation of carotid in addition to femoral pulses in resuscitated patients. It is, to the best of our knowledge, the first description of an acute aortic occlusion in a patient with acute ventricular septal rupture.
Expression of P16INK4a in Uveal Melanoma: New Perspectives
Authors: Daniela Russo, Rosa Maria Di Crescenzo, Giuseppe Broggi, Francesco Merolla, Francesco Martino, Silvia Varricchio, Gennaro Ilardi, Alessandra Borzillo, Raffaella Carandente, Sara Pignatiello, Massimo Mascolo, Rosario Caltabiano, Stefania Staibano
Journal: Front Oncol (2020)
Keywords: cdkn2a, p16ink4a, cutaneous melanoma, retinoblastoma, uveal melanoma

Uveal melanoma (UM) is the most common intraocular tumor in adults. Despite sharing the name and similar morphological features with cutaneous melanoma (CM), it is an entirely different neoplasia with a particular genetic background and clinical behavior. CDKN2A is a gene located at chromosome 9p21, encoding for P16INK4a and P14(ARF) proteins, whose role as a tumor suppressor has been clearly defined in many malignant tumors. CDKN2A frequently presents germline mutations in familial CM and epigenetic downregulation in a considerable percentage of sporadic CM. It has been hypothesized that CDKN2A alterations are early events in CM development, playing a central role in the malignant transformation of melanocytes. Alterations of the CDKN2A gene reduce the expression of P16INK4a in most CM subtypes. Immunohistochemical evaluation of P16INK4a is currently used, in association with Ki67 and HMB45, in pathology practice to discriminate between dysplastic nevi and melanoma. On the other hand, CKDN2A is rarely mutated in UM, and the immunohistochemical expression of P16INK4a has only been reported in small case series. We tested P16INK4a expression on paraffin-embedded tissue sections from 9 tissue microarrays (TMAs), built with 2 mm cores derived from 133 uveal melanoma FFPE blocks, collected from 1990 to 2018, and from selected paraffin-blocks of 3 UM liver metastases. The immunohistochemical expression of P16INK4a was assessed with a visual evaluation by light microscopy and then with a digital approach. Both approaches, with an acceptable concordance rate, revealed P16INK4a expression in a large proportion of UM cases and all liver metastases, opening new possibilities of using it in the differential diagnosis between cutaneous and uveal melanoma metastases in cases of unknown primary tumor or patients with two different primary melanomas.
Rapid growth atypical mycobacteria infection associated with growth hormone injections: a case report
Authors: Christian David Cardozo Lomaquiz, Tamara Frontanilla, Natalia Scavone, Alba Fretes, Nathalia Torales, María Elena Pereira, Herminia Mino de Kaspar, Xavier Ortiz, Renate Henning
Journal: Access Microbiol (2021)
Keywords: hormones, mycobacterium infections, nontuberculous mycobacteria, paraguay
MeSH terms: Case Reports

Introduction:
Infections caused by fast growing mycobacteria have increased markedly worldwide. They are normally associated with trauma, surgery or cosmetic interventions. Paraguay has a deficit in sanitary control including clinics, private practices, and aesthetic centres. This situation is accompanied by the easy access to drugs, which leads to the performance of exclusively medical aesthetic procedures by people without professional knowledge or training.
Case report:
A 26-year-old female patient comes to a medical consultation with pain and bruising in the abdominal area with more than 3 months of progression, without fever or apparent cause. Later, she confessed to the application of subcutaneous injections of 'growth hormones' at the gym. Excisional biopsy of the lesions was carried out for anatomopathological and microbiological studies. In addition, the use of polymerase chain reaction analysis was indicated because of the strong suspicion of an atypical mycobacterial infection. The Ziehl-Neelsen staining was negative for BAAR, and the PAS-Hematoxylin negative for fungal elements. When performing the culture, the growth of atypical mycobacteria was observed on chocolate and blood agar medium culture. Through the polymerase chain reaction study, it was possible to identify the atypical mycobacterium as 'Mycobacterium abscessus'.
Conclusion:
The irresponsible application of medications by people without professional authorization or biosafety precautions can lead to the development atypical infections that are difficult to diagnose and treat. This situation could lead to serious complications and even death.
Case Report: Multiple Seizures After a Diphenoxylate-Atropine Overdose in a Small Child
Authors: Chun-Hui Wang, Li-Jia Song, Yang Yang, Xiao-Peng Qu, Li Lan, Bei Liu
Journal: Front Pharmacol (2021)
Keywords: children, diphenoxylate-atropine, neuropharmacology, seizure, toxic encephalopathy
MeSH terms: Case Reports

Poisoning is a type of accidental injury and it is considered a major public health problem worldwide. Oral drug poisoning in children is an important cause of accidental injury and even death. It is a common critical emergency in the field of pediatrics. Once a child unintentionally takes an overdose, regardless of whether it caused poisoning or not, they should be admitted to the hospital for emergency treatment. Acute poisoning in children most frequently occurs through the digestive tract. Drug poisoning can happen in children of all ages. In children younger than 1 year, drug poisoning is mostly caused by the parents during feeding, while in children aged 1-3 years, it predominantly occurs as a result of an accident. A case of diagnosis and treatment of a child with diphenoxylate-atropine poisoning is reported herein. The early manifestation of this child was acute toxic encephalopathy with clinical manifestations of a coma, convulsions, and respiratory depression. A brain MRI showed extensive damage to the bilateral caudate nucleus, lenticular nucleus, parietal lobe, precuneus lobe, and occipital lobe. Accidental administration of a large dose of diphenoxylate results in severe clinical symptoms and can cause obvious diffuse brain damage.
Penile Gangrene and Necrosis Leading to Death Secondary to Strangulation by Condom Catheter
Authors: Youness Jabbour, Bilgo Abdoulazizi, Tarik Karmouni, Khalid El Khader, Abdellatif Koutani, Ahmed Iben Attya Andaloussi
Journal: Case Rep Urol (2018)
MeSH terms: Case Reports

Condom catheters are widely used in the management of male urinary incontinence, bedridden patients, and geriatric population. They are considered to be safe; however they are associated with serious complications in case of an incorrect use. We report a dramatic case of penile strangulation by condom catheter tardily discovered till occurrence of necrosis and gangrene leading to death in an elderly bedridden and diabetic man. Through this case we emphasize the importance of patient education for the correct use of condom catheters and remind care providers to maintain a high level of sensibility to complication generated from long-term use of condom catheters.
Pulmonary sclerosing hemangioma with lymph node metastasis: A case report and literature review
Authors: Yasushi Adachi, Koji Tsuta, Ryuji Hirano, Jin Tanaka, Keizo Minamino, Tomohiko Shimo, Susumu Ikehara
Journal: Oncol Lett (2014)
Keywords: lung, lymph node metastasis, middle-aged female, sclerosing hemangioma

Pulmonary sclerosing hemangioma (SH) is an uncommon benign or low-grade malignant tumor. Multicentric SH and SH with lymph node metastasis have rarely been reported. The present report describes a case of pulmonary SH with lymph node metastasis in a middle-aged female. A nodule was found incidentally in the lower left lung. The patient underwent left lower pulmonary lobectomy and lymph node dissection. Histologically, the nodule demonstrated the characteristic features of SH and one of the resected lymph nodes contained a metastasis of this tumor. Thus, pulmonary SH has the potential to metastasize, a potential not suggested by histological features.
Case Report: Kryptonite-A Rare Case of Left-Sided Bilothorax in a Sickle Cell Patient
Authors: Vikas D Reddy, Anas Al-Khateeb, Muhammad Hussain, Varun Patel, Muqueet Kadri, Rutwik Patel, Siva Prasad Maruboyina, Richard A Miller, Joseph R DePasquale
Journal: Case Rep Pulmonol (2019)
MeSH terms: Case Reports

Bilothorax is a rare cause of an exudative pleural effusion. The diagnosis is confirmed by a pleural fluid to serum bilirubin ratio of greater than 1. Typically, bilothorax presents as a right-sided effusion due to its proximity to the liver and biliary system. Herein, we present a case of isolated left-sided bilothorax in a 43-year-old female admitted with sickle cell crisis. Only one other case of isolated spontaneous left-sided bilothorax has been described in the literature. A thoracentesis performed on admission demonstrated greenish fluid and bilothorax was suspected, with a pleural fluid to serum bilirubin ratio greater than 1 confirming the diagnosis. A magnetic resonance cholangiopancreatography (MRCP) showed an abnormal 90-degree acute angulation in the mid-to-distal common bile duct with proximal common bile duct and intrahepatic bile ducts dilation. This was further confirmed with an endoscopic retrograde cholangiopancreatography (ERCP), which did not reveal any extravasation of contrast into the left pleural space. Ultimately, despite the use of various modalities, no definitive cause of bilothorax was identified. Postthoracentesis imaging revealed evidence of fibrothorax, a direct and permanent complication of bilothorax. The presence of an isolated left-sided bilothorax, along with the lack of a confirmed etiology, makes this case unique.
Diagnosis of benign notochordal cell tumor of the spine: is a biopsy necessary?
Authors: Satoshi Tateda, Ko Hashimoto, Toshimi Aizawa, Haruo Kanno, Shin Hitachi, Eiji Itoi, Hiroshi Ozawa
Journal: Clin Case Rep (2017)
Keywords: benign notochordal cell tumor, chordoma, magnetic resonance imaging, notochordal rest, spinal tumor
MeSH terms: Case Reports

Benign notochordal cell tumor is a benign intraosseous lesion, demonstrates characteristic imaging features. The lesion demonstrates low-signal intensity in T1-weighted images, high-signal intensity in T2-weighted images, and no enhancement with contrast medium in MRI and slight osteosclerosis in CT. If typical imaging findings are identified, biopsy is not necessary.
Synchronous gallbladder adenocarcinoma and gastric gastrointestinal stromal tumor: Case report and literature review
Authors: Paulo Henrique Peitl Gregório, Lucas Seiti Takemura, André Luiz Vilela Galvão, Giuliano Campolim Gagliotti, Rodrigo Camargo Leão Edelmuth, Vanderlei Segatelli
Journal: Int J Surg Case Rep (2019)
Keywords: case report, gallbladder adenocarcinoma, gastrointestinal stromal tumor, synchronous neoplasms

Introduction:
Synchronous occurrence of different types of neoplasms is not very frequent, representing around 6% of all cases of cancer. Usually there is a lack of information on how to treat these patients, especially when both types of cancers are also uncommon. No cases of synchronous gallbladder adenocarcinoma and gastric gastrointestinal stromal tumor have been published before.
Presentation of case:
We present the case, management and follow-up, of a 66-year-old female with incidental diagnosis of a pT2NxMx gallbladder adenocarcinoma after elective cholecystectomy that latter, during staging, was also diagnosed with GIST. Total gastrectomy, wedge resection of the liver and lymphadenectomy were performed due to the new findings. Adjuvant chemotherapy for 36 months was indicated. After 16 months of the treatment she has no signs of recurrence.
Discussion:
Gastrointestinal stromal tumors (GISTs) had a turnaround in the end of the 20th century after the introduction tyrosine-kinase inhibitor to the adjuvant treatment and now the trend is to extend it up to 36 months in selected patients. Gallbladder adenocarcinoma is an uncommon cancer but the incidental diagnosis is increasing with the popularity of laparoscopic cholecystectomy and, thus, specific management should be offered for these patients, what frequently includes a complementary surgery. Although, GISTs may be associated with another synchronous tumor in 20% of the cases, the simultaneous occurrence with gallbladder cancer is incredibly rare.
Conclusion:
Simultaneous occurrence of gastric GIST and gallbladder adenocarcinoma has not been reported before and, thus, any information about it may help in the management of those patients.
Primary giant mediastinal synovial sarcoma of the neck: A case report and review of the literature
Authors: Yan Zhou, Wen Dong, Fangwen Zou, Dong-Ai Zhou, Jin-An Ma
Journal: Oncol Lett (2014)
Keywords: mediastinum, neck mass, synovial sarcoma

Synovial sarcomas commonly occur in the soft tissue of the extremities, while a primary occurrence in the mediastinum is quite rare. The current study reports the case of an 11-year-old male who presented with a neck mass, which computed tomography showed was due to a giant mediastinal mass involving the thyroid gland. The tumor was resected by thoracotomy and diagnosed as monophasic synovial sarcoma by histopathology. The patient received adjuvant combination chemotherapy and radiation therapy following surgery. At the 3-month follow-up, no local tumor recurrence was found. The present case report highlights the significance of recognizing the unusual presentation and clinical manifestation of synovial sarcoma to aid clinical management. Written informed consent was obtained from the patient's family.
Upfront BRAF/MEK inhibitors for treatment of high-grade glioma: A case report and review of the literature
Authors: Gabrielle Arbour, Benjamin Ellezam, Alexander G Weil, Romain Cayrol, Magimairajan Issai Vanan, Hallie Coltin, Valérie Larouche, Craig Erker, Nada Jabado, Sébastien Perreault
Journal: Neurooncol Adv (2022)
Keywords: braf v600e, braf inhibitors, mek inhibitors, high-grade glioma

Background:
High-grade gliomas (HGG) with BRAFV600E mutation represent a unique subset of central nervous system tumors. Targeted therapies including BRAF and MEK inhibitors are now being explored as possible new treatment options.
Methods:
We report an 18-year-old female with a grade 3 pleomorphic xanthoastrocytoma treated upfront with dabrafenib and trametinib. We also conducted a systematic literature review of patients with HGG and BRAFV600E mutations treated with BRAF inhibitors.
Results:
Despite local recurrences resected surgically, the patient has been on dabrafenib and trametinib for more than 54 months. Thirty-two patients with HGG and BRAFV600E mutations treated with BRAF inhibitors were retrieved through our systematic review of the literature. Only 1 young patient with an anaplastic ganglioglioma was treated upfront with a BRAF inhibitor with a curative intent. Best response reported with radiation therapy and systemic therapy was a stable disease (SD) for 18 patients (56.3%) and progressive disease (PD) for 9 patients (28.1%). Responses to treatment regimens that included BRAF inhibitors were reported in 31 patients and included 4 complete responses (12.9%), 23 partial responses (74.2%), 2 SDs (6.5%), and 2 PDs (6.5%).
Conclusions:
Our patient had durable disease control with dabrafenib and trametinib. Given favorable responses reported in patients with HGG treated with BRAF inhibitors, we believe that upfront targeted therapy is a possible treatment approach that should be studied in the context of a clinical trial.
Gastaut-Geschwind Syndrome, Faciobrachial Dystonic Seizure, and Autoimmune Limbic Encephalitis
Authors: Ori-Michael J Benhamou, Mohammad Tavakkoli, Hande Okan, Mitchell Nobler
Journal: Case Rep Psychiatry (2018)
MeSH terms: Case Reports

Here we report a case of a 55-year-old male who had presented with recent falls and behavioral changes, including a heightened religious preoccupation, hypergraphia, and paranoid ideations. He was initially treated for psychosis but soon exhibited absence-like seizures, which were consistent with faciobrachial dystonic seizures. Workup for underlying infectious, immunodeficiency, and autoimmune causes revealed antibodies towards the leucine-rich glioma inactivated subunit of the voltage-gated potassium complex. The patient was treated with steroids and intravenous immune globulin with symptomatic relief. In retrospect, the patient met criteria for Gastaut-Geschwind (GG) syndrome, with notable features of hypergraphia and hyperreligiosity. This case illustrates how the GG syndromal pattern contributes to the suspicion of autoimmune limbic encephalitis and may expedite diagnosis and prevent the accumulation of disability.
Conservative treatment of acute limb ischemia in a child - case report
Authors: Suzanna Maria Viana Sanches, Maurício de Amorim Aquino, Brenda de Lima Leite, Monique Magnavita Borba da Fonseca Cerqueira
Journal: J Vasc Bras (2022)
Keywords: anticoagulants, case report, children, ischemia
MeSH terms: Case Reports

Acute limb ischemia is a rare event in the pediatric population, with an estimated incidence of 26 per 100,000 admissions, the majority of which are associated with trauma or iatrogeny. The ideal treatment for these cases is not well-established in the literature, although there is a tendency to choose noninvasive treatment. We report the case of an infant who suffered ischemia to all four limbs secondary to hemodynamic complications after complex heart surgery and in whom significant tissue preservation was achieved with conservative treatment.