OpenMed/multicare-articles huggingface dataset:
The Superiority of T2*MRI Over Serum Ferritin in the Evaluation of Secondary Iron Overload in a Chronic Kidney Disease Patient: A Case Report
Authors: Abdulrahman Al-Mashdali, Tahiya Alyafei, Mohamed Yassin
Journal: J Blood Med (2021)
Keywords: t2*mri, chronic kidney disease, liver iron concentration, secondary iron overload, serum ferritin
MeSH terms: Case Reports

Secondary iron overload is increasingly encountered in chronic kidney disease (CKD) patients because of the frequent use of parenteral iron products, especially in hemodialysis patients. Serum ferritin has been commonly used to monitor iron overload in these patients; however, other conditions can be associated with the high serum ferritin, like infections and inflammatory conditions. Currently, T2*MRI of the heart and liver is the preferred investigation for evaluating liver iron concentration (LIC) and cardiac iron concentration, which reflect the state of iron overload. Few studies observe a positive correlation between serum iron and LIC in CKD patients and postulate that serum ferritin exceeding 290 mcg/L should indicate significant iron overload and necessitates further MRI evaluation. However, here, we present a patient with a history of ESRD for which she underwent renal transplantation twice referred to our clinic due to persistent elevation in serum ferritin level (>1000 mcg/L) for several years. T2*MRI of the heart and liver revealed the absence of iron overload. Our objective of this case is to demonstrate the accuracy of T2*MRI over serum ferritin in evaluating iron overload and questioning the positive correlation between serum ferritin and LIC in CKD patients.
Case report: Kaposi hemangioendothelioma of the right upper limb with the Kasabach-Merritt phenomenon: A potentially lethal diagnostic challenge
Authors: Levin Belani, Jamari Sapuan, Shalimar Abdullah, Erica Yee Hing, C-Khai Loh, Hamidah Alias
Journal: Front Pediatr (2022)
Keywords: kasabach–merritt, kaposi hemangioendothelioma, sirolimus, treatment outcome, upper limb
MeSH terms: Case Reports

Kaposi hemangioendothelioma (KHE) is a rare vascular neoplasm that presents usually within the first year of life. Because of its rarity and complexity, there is often a delay in diagnosis. KHE could be associated with a life-threatening consumptive coagulopathy named the Kasabach-Merritt phenomenon (KMP). Here, we present the case of a 2-month-old girl who presented with progressive redness and swelling of her right upper limb over 6 weeks. Multiple health practitioners misdiagnosed her condition as an insect bite, cellulitis, and necrotizing fasciitis and gave treatment accordingly, which proved futile. A full blood count revealed bicytopenia of anemia and thrombocytopenia, a normal coagulation cascade, low fibrinogen, and raised D-Dimer levels. The imaging was suggestive of a high-flow vascular tumor likely to be a KHE. Subsequently, she was started on single-agent oral sirolimus with a dose increment to achieve satisfactory therapeutic levels and was treated for 1 year. She successfully completed the treatment regimen and had only transient hypertriglyceridemia, which resolved upon the completion of treatment. Currently, she is in remission 3 years after treatment. Keeping her case as an example, we would like to highlight the potentially lethal misdiagnosis of KHE with KMP, the importance of an early diagnosis of this condition, and the successful treatment outcome with single-agent sirolimus.
A Case of a Patient Who Is Diagnosed with Mild Acquired Hemophilia A after Tooth Extraction Died of Acute Subdural Hematoma due to Head Injury
Authors: Tomohisa Kitamura, Tsuyoshi Sato, Eiji Ikami, Yosuke Fukushima, Tetsuya Yoda
Journal: Case Rep Dent (2018)
MeSH terms: Case Reports

Background:
Acquired hemophilia A (AHA) is a rare disorder which results from the presence of autoantibodies against blood coagulation factor VIII. The initial diagnosis is based on the detection of an isolated prolongation of the activated partial thromboplastin time (aPTT) with negative personal and family history of bleeding disorder. Definitive diagnosis is the identification of reduced FVIII levels with evidence of FVIII neutralizing activity.
Case report:
We report a case of a 93-year-old female who was diagnosed as AHA after tooth extraction at her home clinic. Prolongation of aPTT and a reduction in factor VIII activity levels were observed with the presence of factor VIII inhibitor. AHA condition is mild. However, acute subdural hematoma of this patient occurred due to an unexpected accident in our hospital. Hematoma was gradually increased and the patient died 13 days after admission.
Discussion:
Although AHA is mild, intracranial bleeding is a life-threatening condition. We also should pay attention to the presence of AHA patients when we extract teeth.
Case report: Identification of novel fibrillin-2 variants impacting disulfide bond and causing congenital contractural arachnodactyly
Authors: An-Lei Li, Ji-Qiang He, Lei Zeng, Yi-Qiao Hu, Min Wang, Jie-Yi Long, Si-Hua Chang, Jie-Yuan Jin, Rong Xiang
Journal: Front Genet (2023)
Keywords: fbn2, arthrogryposis, congenital contractural arachnodactyly, disulfide bond, whole-exome sequencing
MeSH terms: Case Reports

Background: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder with clinical features of arthrogryposis, arachnodactyly, crumpled ears, scoliosis, and muscular hypoplasia. The heterozygous pathogenic variants in FBN2 have been shown to cause CCA. Fibrillin-2 is related to the elasticity of the tissue and has been demonstrated to play an important role in the constitution of extracellular microfibrils in elastic fibers, providing strength and flexibility to the connective tissue that sustains the body's joints and organs. Methods: We recruited two Chinese families with arachnodactyly and bilateral arthrogryposis of the fingers. Whole-exome sequencing (WES) and co-segregation analysis were employed to identify their genetic etiologies. Three-dimensional protein models were used to analyze the pathogenic mechanism of the identified variants. Results: We have reported two CCA families and identified two novel missense variants in FBN2 (NM_001999.3: c.4093T>C, p.C1365R and c.2384G>T, p.C795F). The structural models of the mutant FBN2 protein in rats exhibited that both the variants could break disulfide bonds. Conclusion: We detected two FBN2 variants in two families with CCA. Our description expands the genetic profile of CCA and emphasizes the pathogenicity of disulfide bond disruption in FBN2.
Noncholesteatomatous Cyst of the Tympanic Membrane: A Nonpublished Entity?
Authors: Rafael Ramírez-Camacho, Isabel Salas, Almudena Trinidad, Ithzel Maria Villarreal
Journal: Case Rep Otolaryngol (2015)

Introduction. The presence of a serous cyst in the tympanic membrane implies the description of a new or unpublished entity based on our knowledge whose origin may be very unlikely explained on actual embryologic and anatomic background. Clinical Case. We present a case of a 45-year-old woman with progressing right hearing loss. Physical examination revealed a whitish, round-shaped malformation in the posterior-inferior quadrant of the right tympanic membrane. The cyst was removed with a transcanal tympanoplasty. Discussion. A thorough PubMed search that involved the terms tympanic membrane gland, epithelial inclusion cysts, mucous-secreting cyst, and tympanic cyst has shown no positive results. The first description of an unknown entity, such as a tympanic membrane serous cyst, may be the key for clinicians to start paying attention to patients who suffer from similar pathologies and may pass unnoticed because of their rarity or peculiarity.
The impact of a short-term cohousing initiative among schizophrenia patients, high school students, and their social context: A qualitative case study
Authors: Domingo Palacios-Ceña, Emilio Andrés Martín-Tejedor, Ana Elías-Elispuru, Amaia Garate-Samaniego, Jorge Pérez-Corrales, Elena García-García
Journal: PLoS One (2018)
MeSH terms: Housing, Schizophrenic Psychology, Students / psychology, Research Support, Non-U.S. Gov't, Adolescent, Adult, Attitude to Health, Female, Health Personnel / psychology, Humans, Interviews as Topic, Learning, Male, Middle Aged, Parents / psychology, Perception, Personnel, Hospital / psychology, Qualitative Research, Schizophrenia / therapy, School Teachers / psychology, Self Concept, Social Environment

Background:
A number of programs have been developed to promote the contact between adolescents and mentally-ill patients, in order to break the stigma, improve understanding, promote mental health and prevent substance abuse. The aim of this study was to describe the experience of patients with schizophrenia, high school students, and their social context, participating in a short-term cohousing initiative.
Methods:
A qualitative case-study approach was implemented. Patients with schizophrenia from the San Juan de Dios Psychiatric Hospital, female students from Almen High School, and participants from their social context (parents, hospital staff, and teachers) were included, using purposeful sampling. Data were collected from 51 participants (15 patients, nine students, 11 hospital staff, six teachers, 10 parents) via non-participant observation, focus groups, informal interviews, researchers' field notes and patients' personal diaries and letters. A thematic analysis was performed.
Results:
The themes identified included a) learning to live together: students and patients participate and learn together; b) the perception of the illness and the mentally-ill: the barrier between health and disease is very slim, and society tends to avoid contact with those who are ill; c) change: a transformation takes place in students, in their self-perception, based on the real and intense nature of the experience; d) a trial and an opportunity: patients test their ability to live outside the hospital; e) discharge and readmission: discharge is experienced as both a liberation and a difficulty, whereas relapse and readmission are experienced as failures.
Conclusions:
Our findings can help us to better understand schizophrenia and encourage a more positive approach towards both the illness and those who suffer from it. These results may be used for the development of cohousing programs in controlled environments.
Clinical and echocardiographic features of aorto-atrial fistulas
Authors: Karthik Ananthasubramaniam
Journal: Cardiovasc Ultrasound (2005)
MeSH terms: Aortic Diseases / diagnostic imaging, Aortic Diseases / etiology, Arterio-Arterial Fistula / diagnostic imaging, Arterio-Arterial Fistula / etiology, Heart Atria / diagnostic imaging, Heart Valve Prosthesis Implantation / adverse effects, Case Reports, Aged, Humans, Male, Ultrasonography

Aorto-atrial fistulas (AAF) are rare but important pathophysiologic conditions of the aorta and have varied presentations such as acute pulmonary edema, chronic heart failure and incidental detection of the fistula. A variety of mechanisms such as aortic dissection, endocarditis with pseudoaneurysm formation, post surgical scenarios or trauma may precipitate the fistula formation. With increasing survival of patients, particularly following complex aortic reconstructive surgeries and redo valve surgeries, recognition of this complication, its clinical features and echocardiographic diagnosis is important. Since physical exam in this condition may be misleading, echocardiography serves as the cornerstone for diagnosis. The case below illustrates aorto-left atrial fistula formation following redo aortic valve surgery with slowly progressive symptoms of heart failure. A brief review of the existing literature of this entity is presented including emphasis on echocardiographic diagnosis and treatment.
Use of flow diverter device in basilar artery for aneurysm treatment: Case series and literature review
Authors: Chuanchuan Wang, Deyuan Zhu, Xiaolong Xu, Yu Zhou, Rui Zhao, Qiang Li, Pengfei Yang, Qinghai Huang, Yi Xu, Jianmin Liu, Yibin Fang
Journal: Front Neurol (2022)
Keywords: basilar artery, endovascular treatment, flow diverter, intracranial aneurysm, literature review

Background:
Flow diverters (FDs) for the treatment of basilar artery (BA) aneurysms remain controversial. In this study, we report our initial experience of flow diversion for treatment of this pathology.
Methods:
Consecutive patients with an aneurysm of the BA that was treated by implantation of the FD were included in our retrospective study. Procedural complications, aneurysm occlusion, and a functional outcome were evaluated. FD placement in BA for aneurysm treatment reported in the literature was also reviewed and summarized.
Results:
Sixteen patients with 16 BA aneurysms were treated by FD implantation with (n = 8) or without (n = 8) adjunctive coiling. The Tubridge was used in 13 (81.3%) and Pipeline in 3 (18.8%) procedures. Average aneurysm size was 15.7 mm. Four aneurysms were located at the basilar apex, six at the basilar trunk, and six at the vertebrobasilar junction. Three patients experienced procedural complications (18.8%), including two ischemic strokes and one hydrocephalus, with resultant mortality in one case (6.3%). Median follow-up was 7.7 months and available for 15 aneurysms. Complete/near-complete occlusion was seen in 13 (86.7%) aneurysms.
Conclusion:
In our initial experience, flow diversion is feasible and safe in the treatment of BA aneurysms with promising occlusion rates at mid-term follow-up. Larger cohort studies are required to validate these results.
Case Series: Acute Hemorrhagic Encephalomyelitis After SARS-CoV-2 Vaccination
Authors: Mihai Ancau, Friederike Liesche-Starnecker, Johanna Niederschweiberer, Sandro M Krieg, Claus Zimmer, Charlotte Lingg, Daniela Kumpfmüller, Benno Ikenberg, Markus Ploner, Bernhard Hemmer, Silke Wunderlich, Mark Mühlau, Benjamin Knier
Journal: Front Neurol (2022)
Keywords: covid-19, chadox1 ncov-19, weston-hurst syndrome, acute disseminated encephalomyelitis, acute hemorrhagic encephalomyelitis, acute hemorrhagic leukoencephalitis, vaccination
MeSH terms: Case Reports

We present three cases fulfilling diagnostic criteria of hemorrhagic variants of acute disseminated encephalomyelitis (acute hemorrhagic encephalomyelitis, AHEM) occurring within 9 days after the first shot of ChAdOx1 nCoV-19. AHEM was diagnosed using magnetic resonance imaging, cerebrospinal fluid analysis and brain biopsy in one case. The close temporal association with the vaccination, the immune-related nature of the disease as well as the lack of other canonical precipitating factors suggested that AHEM was a vaccine-related adverse effect. We believe that AHEM might reflect a novel COVID-19 vaccine-related adverse event for which physicians should be vigilant and sensitized.
A Lucky Accident: Brugada Syndrome Associated with Out-of-Hospital Cardiac Arrest
Authors: Michelle T Lee, Naddi Marah
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

About 350,000 cases of out-of-hospital cardiac arrest (OHCA) occur yearly in the United States. Unfortunately, even with treatment from emergency medical service (EMS) staff and hospitalization, only 12% survive past discharge for multiple reasons. Classically, Brugada syndrome (BrS) initially presents as a new syncopal episode in young males without obstructive coronary artery disease (CAD). However, in this case report, a patient who emergently presented with a ST-elevation myocardial infarction (STEMI) challenges the stereotypical presentation. Despite successful stent placement for relatively minor obstructive CAD, new ST-segment elevations appeared on electrocardiogram (ECG) and persistent ventricular fibrillation arrests may signify an additional underlying pathology of BrS.
Narcolepsy Following Yellow Fever Vaccination: A Case Report
Authors: Richard E Rosch, Michael Farquhar, Paul Gringras, Deb K Pal
Journal: Front Neurol (2016)
Keywords: hla, molecular immunogene, pediatric neurology, sleep disorders
MeSH terms: Case Reports

Narcolepsy with cataplexy is a rare, but important differential diagnosis for daytime sleepiness and atonic paroxysms in an adolescent. A recent increase in incidence in the pediatric age group probably linked to the use of the Pandemrix influenza vaccine in 2009, has increased awareness that different environmental factors can "trigger" narcolepsy with cataplexy in a genetically susceptible population. Here, we describe the case of a 13-year-old boy with narcolepsy following yellow fever vaccination. He carries the HLA DQB1*0602 haplotype strongly associated with narcolepsy and cataplexy. Polysomnography showed rapid sleep onset with rapid eye movement (REM) latency of 47 min, significant sleep fragmentation and a mean sleep latency of 1.6 min with sleep onset REM in four out of four nap periods. Together with the clinical history, these findings are diagnostic of narcolepsy type 1. The envelope protein E of the yellow fever vaccine strain 17D has significant amino acid sequence overlap with both hypocretin and the hypocretin receptor 2 receptors in protein regions that are predicted to act as epitopes for antibody production. These findings raise the question whether the yellow fever vaccine strain may, through a potential molecular mimicry mechanism, be another infectious trigger for this neuro-immunological disorder.
Brain Tumors and Electroconvulsive Therapy: A Literature Overview of the Last 80 Years
Authors: Jozef Buday, Jakub Albrecht, Tadeas Mareš, Gabriela Podgorná, Klara Horáčková, Lucie Kališová, Jiri Raboch, Martin Anders
Journal: Front Neurol (2020)
Keywords: ect, ect and cancer, ect safety, abnormal recovery, brain tumor
MeSH terms: Review

The safety and efficacy of electroconvulsive therapy (ECT) in patients with a brain tumor have been debated in the past without a clear conclusion. In the last large review published by Maltbie et al. in 1980, it was concluded that the presence of an intracranial mass should be considered an absolute contraindication to ECT. In our updated review, we investigated a total of 33 published and indexed case reports, case report series, and reviews of 75 individual patients who underwent ECT in the presence of a brain tumor over the last 80 years. Mounting case reports after the original Maltbie et al. review show that it is feasible to apply this method safely in patients with benign or otherwise clinically insignificant lesions. Certain precautionary measures, such as dexamethasone or phenytoin application before ECT, could lead to a further minimalization or even absence of adverse effects, particularly in higher risk individuals.
Rare double-hit with two translocations involving IGH both, with BCL2 and BCL3, in a monoclonal B-cell lymphoma/leukemia
Authors: Roman Alpatov, Billie Carstens, Kimberly Harding, Carolyn Jarrett, Sudabeh Balakhani, Jessica Lincoln, Peter Brzeskiewicz, Yu Guo, Alex Ohene-Mobley, Jamie LeRoux, Veronica McDaniel, Lynne Meltesen, Diane Minka, Mahendra Patel, Cyrus Manavi, Karen Swisshelm
Journal: Mol Cytogenet (2015)
Keywords: b-cell lymphoma/leukemia, double igh, bcl2 and igh, bcl3 translocation, ercc2 duplication
MeSH terms: Case Reports

Background:
Chronic Lymphocytic Leukemia (CLL) is a lymphoproliferative disease characterized by multiple recurring clonal cytogenetic anomalies and is the most common leukemia in adults. Chromosomal abnormalities associated with CLL include trisomy 12 and IGH;BCL3 rearrangement [t(14;19)(q32;q13)] that juxtaposes a proto-oncogenic gene BCL3 and an immunoglobulin heavy chain, a translocation that may be associated with shorter survival. In addition to the IGH;BCL3 rearrangement, other translocations involving 14q32 locus are involved in various lymphoproliferative pathologies pointing toward the significance of IGH locus in oncogenic progression. Significantly, in the majority of B-cell neoplasms that carry an IGH;BCL3 rearrangement, it is a sole translocation involving an IGH locus.
Case presentation:
We report a patient who, in addition to trisomy 12, carried a rare double-hit translocation characterized by the IGH;BCL3 translocation and an additional clonal IGH;BCL2 translocation involving IGH and another proto-oncogene BCL2, t(14;18)(q32;q21), commonly found in follicular lymphoma. Further single nucleotide polymorphism (SNP) array-based analysis detected a duplication of the 58.8 kb region at 19q13.32 adjacent to the BCL3 translocation junction on chromosome 19q13. Interestingly, the duplicated region contained ERCC2 gene, which encodes a DNA excision repair protein involved in the cancer-prone syndrome, xeroderma pigmentosum.
Conclusions:
Taken together our findings indicate the existence of double-translocation driven oncogenic events involving both IGH loci and proto-oncogenes BCL2 and BCL3. Importantly, the IGH;BCL3 translocation was characterized by the duplication of the genomic region adjacent to BCL3, containing a major DNA repair factor, ERCC2.
Suspected phenobarbital-induced pancytopenia in a cat
Authors: Maria Lyraki, Helen Wilson
Journal: JFMS Open Rep (2020)
Keywords: phenobarbital, anticonvulsants, drug-induced reaction, pancytopenia
MeSH terms: Case Reports

Case summary:
A 3-year-old neutered male domestic shorthair cat developed pancytopenia 6 months after starting phenobarbital for treatment of recurrent seizures. The cat was switched from phenobarbital to levetiracetam and complete resolution of the pancytopenia was documented within 10 weeks, consistent with phenobarbital-induced pancytopenia.
Relevance and novel information:
While phenobarbital is frequently used as the first-line treatment for seizures in cats, phenobarbital-induced feline pancytopenia has not been documented in the veterinary literature before. Based on this case, regular monitoring of the complete blood count in cats receiving long-term phenobarbital treatment should be considered. In cases of persistent or severe haematological abnormalities, further investigations are required and treatment discontinuation may be needed in the absence of other causes of pancytopenia.
Postoperative meningocele after anterior cervical discectomy and arthroplasty on a case report
Authors: Paul Lavantes, Thierry Dufour
Journal: Pan Afr Med J (2022)
Keywords: cerebrospinal fluid leaked, case report, cervical arthroplasty, cervical spine, dural tear
MeSH terms: Meningocele / etiology, Meningocele / surgery, Case Reports, Arthroplasty / adverse effects, Arthroplasty / methods, Cervical Vertebrae / surgery, Diskectomy / adverse effects, Diskectomy / methods, Humans, Postoperative Complications / etiology, Postoperative Complications / surgery, Treatment Outcome

Anterior dural tears complicated by cerebrospinal fluid (CSF) leakage with anterior meningocele are rare. Indeed, in the literature, cases are described during anterior arthrodesis, but no cases of post-cervical arthroplasty are described. The management of this type of complication is poorly described and not consensual. We present a case of a patient who underwent cervical arthroplasty complicated by an anterior meningocele at 1 month after the first surgery. Imaging revealed a compressive anterior meningocele in relation to the clinically progressive worsening. Revision surgery consisted of a combination of closure of the gap with a fatty patch covered with a TachoSil patch, followed by reinsertion of a new cervical prosthesis. At the last follow-up at 1 year, the patient showed no residual effects of the complication, and the mobility of the disc prosthesis was not impaired by it. Clinical results of the arthroplasty are also very satisfactory. Although these types of complications are rare, it is important to have a consensus on the management of anterior meningocele. In our experience, TachoSil appears to be a satisfactory option for the management of these complications.