OpenMed/multicare-articles huggingface dataset:
Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report
Authors: Alexander Schulz, Franziska Wagner, Martin Ungelenk, Ingo Kurth, Christoph Redecker
Journal: Transl Neurodegener (2016)
Keywords: alexander’s disease, axon degeneration, brain stem atrophy, dementia, kissing swan sign, nmnat2, whole-exome sequencing
MeSH terms: Case Reports

Background:
Acute-onset neurodegenerative diseases in older patients are rare clinical cases, especially when the degeneration only affects specific regions of the nervous system. Several neurological disorders have been described in which the degeneration of brain parenchyma originates from and/or primarily affects the brain stem. Clinical diagnosis in these patients, however, is often complicated due to a poor understanding of these diseases and their underlying mechanisms.
Case presentation:
In this manuscript we report on a 73-year-old female who had experienced a sudden onset of complex neurological symptoms that progressively worsened over a period of 2 years. Original evaluation had suggested a MRI-negative stroke as underlying pathogenesis. The combination of patient's medical history, clinical examination and exceptional pattern of brain stem degeneration presenting as "kissing swan sign" in MR imaging was strongly suggestive of acute onset of Alexander's disease. This leukoencephalopathy is caused by GFAP (glial fibrilary acidic protein) gene mutations and may present with brain stem atrophy and stroke-like onset of symptoms in elderly individuals. However, a pathognomonic GFAP gene mutation could not be identified by Sanger sequencing.
Conclusions:
After an extended differential diagnosis and exclusion of other diseases, a definite diagnosis of the patient's condition presently remains elusive. However, whole-exome sequencing performed from patient's blood revealed 12 potentially disease-causative heterozygous variants, amongst which several have been associated with neurological disorders in vitro and in vivo - in particular the axon degeneration-related NMNAT2 gene.
Primary erythromelalgia mainly manifested by hypertensive crisis: A case report and literature review
Authors: Shuo Feng, Zhanwen He, Liping Que, Xiangyang Luo, Liyang Liang, Dongfang Li, Lijun Qin
Journal: Front Pediatr (2022)
Keywords: bradycardia, erythromelalgia, genetic diagnosis, nitroglycerin, pain
MeSH terms: Review

Background:
Primary erythrocytic (PEM) is a rare autosomal dominant single gene disease. Most of the changes of gene loci can be found by whole exon gene sequencing, and the clinical symptoms and patient survival can be improved by specific site-to-site drug treatment. The other manifestations of this patient population are not remarkable. After the application of common drugs, the toxicity and side effects can be limiting. In addition to other common clinical manifestations, we found that the only unique manifestation of this patient was hypertensive crisis. Following multidisciplinary diagnosis and treatment (MDT), we decided to first control hypertension to alleviate the acute and critical patients. However, after controlling the hypertensive crisis, we unexpectedly found that the clinical symptoms of the patients had been significantly improved. Therefore, we concluded that the use of antihypertensive drugs can treat erythematous limb pain with the clinical manifestation of hypertensive crisis. Here, we describe a typical PEM disease, primary clinical features, diagnosis and treatment.
Methods:
Medical records of an 8-year-old boy with PEM were analyzed retrospectively, which included clinical characteristics, follow-up information, and SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9) gene analysis.
Results:
The 8-year-old boy had complained of abnormal paresthesia in his feet and ankles with burning sensation and pain for 2 years. The skin of both lower legs was red and underwent ichthyosis and lichenification. Genetic analysis confirmed the existence of a SCN9A gene mutation. The symptoms were gradually improved by treating with intravenous drip and oral administration of nitroglycerin to slow his heart rhythm.
Conclusion:
Primary erythrocytic is characterized by skin ulceration, redness, elevated temperature, and severe burning pain primarily in both lower extremities. PEM can be diagnosed by genetic analysis. As this case demonstrates, treating with nitroglycerin as the drug of choice to control the hypertensive crisis significantly improved the symptoms of PEM and hypertension in this patient.
Multiple oral leiomyomas in an infant: a rare case
Authors: Efraín Alvarez, María P Laberry, Carlos M Ardila
Journal: Case Rep Dent (2012)
MeSH terms: Case Reports

Oral leiomyoma is a benign smooth muscle tumor that occurs most frequently in the uterine myometrium, gastrointestinal tract, and skin. Incidence in the oral cavity is considered uncommon. Most cases are reported in adults, with very few cases described in children. A rare case of multiple leiomyomas localized on the tongue, cheek, and floor of the mouth of an 8-month-old baby is reported. The diagnosis of leiomyoma in the oral cavity is mainly determined by histological studies; however, immunohistochemical tests are recommended in order to differentiate from other tumors. Surgical excision of the lesion appears to be the best treatment option. A review of the literature did not reveal any previously reported case of multiple oral leiomyomas.
"We missed the psychological support": A case study about the preparation of the Brazilian bronze medal kata team for the 2019 Pan American Games
Authors: Ana Carolina Paludo, Cintia Lassalvia, Iryna Mazhak, Jan Cacek, Danilo Fernandes da Silva
Journal: Front Psychol (2023)
Keywords: pan american games, karate, kata, qualitative, training

Purpose:
The main aim of the study was to describe the key factors involved in the preparation process of the Brazilian bronze medal kata team for the 2019 Pan American Games, focusing on the athletes' perceptions.
Methods:
Three male athletes from the Brazilian team performed a semistructured interview to identify the following topics: specific time for preparation, training organization, supplementary support, and perception and suggestion about the efficiency of the preparation process.
Results:
Data from interviews were gathered and coded, and the major themes were summarized as follows after performing content analysis of the data: (a) technical and tactical training took the major part of the preparation; (b) the high level of the coaches helped the team to reach the technical quality of the kata; (c) better psychological support during the preparation could improve the athletes' performance during the training and competition; and (d) the lack of financial support compromised the commitment of the athletes during the training routine.
Conclusion:
We concluded, based on the athletes' perception, that the most positive factor during preparation for a major competition was the high amount of time focused on technical-tactical training. Even with limitations to performing the physical training, the athletes recognized the importance of the physical component, to increase performance. Financial and psychological support could have helped the team to reach a better result (gold medal) attenuating the training distress.
A rare case of cardiac paraganglioma presenting as anginal pain: a case report
Authors: Tabindeh J Khalid, Omer Zuberi, Lara Zuberi, Imran Khalid
Journal: Cases J (2009)

Introduction:
Primary cardiac paraganglioma is a very rare tumor with less than sixty reported cases in the literature. The clinical presentation is variable, but is most commonly manifested by hypertension and symptoms related to the catecholamine excess.
Case report:
We report a case of a 35 year old man who presented with anginal pain and hypertension. He was found to have a cardiac mass on the computed tomographic scan and echocardiogram. He underwent surgical exploration of the mass which on biopsy was found to be a 'Cardiac Paraganglioma'. Surgical resection of the tumor was successfully done and the patient is doing well five years after the surgery without any evidence of recurrence. His blood pressure, however, failed to normalize and needed single agent antihypertensive therapy.
Conclusion:
Cardiac paragangliomas have a relatively favorable outcome if diagnosed and resected in time. We briefly review the literature regarding the diagnosis, treatment and prognosis of this rare tumor.
A patient with epithelioid pleural mesothelioma (Myxoid variant) who survived for a long period without treatment
Authors: Keiichi Mizuhashi, Kenzo Okamoto, Takumi Kishimoto
Journal: Respir Med Case Rep (2021)
Keywords: epithelioid mesothelioma, female, long-term survival, myxoid variant, no history of asbestos exposure
MeSH terms: Case Reports

Pleural mesothelioma is a disease with a very poor prognosis. Here, we report a mesothelioma patient who survived for 5 years and a half. As a result of the autopsy, the tumor was diagnosed as a myxoid variant, which is internationally proposed as a histological subtype of epithelioid mesothelioma with a relatively favorable prognosis. Since patients with this disease are expected to survive for a long period even without treatment, careful determination of the therapeutic approach is considered necessary. This report is considered to be the first of a myxoid variant epithelioid pleural mesothelioma in Japan.
Case series of fertility treatment in HIV-discordant couples (male positive, female negative): the Ontario experience
Authors: Trent Newmeyer, Sandy N Tecimer, Denise Jaworsky, Steven Chihrin, Kevin Gough, Anita Rachlis, James Martin, Saira Mohammed, Mona R Loutfy
Journal: PLoS One (2011)
MeSH terms: HIV Infections / transmission, Research Support, Non-U.S. Gov't, Adult, Attitude to Health, Decision Making, Female, HIV Infections / ethnology, HIV Seropositivity / ethnology, HIV Seropositivity / transmission, Health Services Accessibility, Humans, Infertility / therapy, Insemination, Artificial / methods, Male, Motivation, Ontario, Pregnancy, Reproductive Techniques, Assisted, Social Support, Stress, Psychological

The success of combination antiretroviral therapies for the treatment of human immunodeficiency virus (HIV) has resulted in prolonged life expectancy (over 40 years from diagnosis) and an improved quality of life for people living with HIV. The risk of vertical HIV transmission during pregnancy has been reduced to less than 1%. As a result of these breakthroughs and as many of these individuals are of reproductive age, fertility issues are becoming increasingly important for this population. One population in which conception planning and reduction of horizontal HIV transmission warrants further research is HIV-discordant couples where the male partner is HIV-positive and the female partner is HIV-negative. Sperm washing is a technique carried out in a fertility clinic that separates HIV from the seminal fluid. Although sperm washing followed by intrauterine insemination significantly reduces the risk of horizontal HIV transmission, there has been limited access to the procedure in North America. Furthermore, little is known about the conception decision-making experiences of HIV-discordant couples who might benefit from sperm washing. Chart reviews and semi-structured interviews were completed with 12 HIV-discordant couples in Ontario, Canada. Couples were recruited through HIV clinics and one fertility clinic that offered sperm washing. Participants identified a number of factors that affected their decision-making around pregnancy planning. Access to sperm washing and other fertility services was an issue (cost, travel and few clinics). Participants identified a lack of information on the procedure (availability, safety). Sources of support (social networks, healthcare providers) were unevenly distributed, especially among those who did not disclose their HIV status to friends and family. Finally, the stigmatisation of HIV continues to have a negative affect on HIV-discordant couples and their intentions to conceive. Access to sperm washing and fertility service is significantly limited for this population and is accompanied with a number of challenges.
Traumatic Pulmonary Pseudocyst Mimicking a Congenital Cystic Lung Disease
Authors: Amjad Kanj, Hussam Tabaja, Ayman O Soubani, Nadim Kanj
Journal: Case Rep Pulmonol (2018)
MeSH terms: Case Reports

Traumatic pulmonary pseudocyst (TPP) is a rare entity that occurs following a trauma to the chest. It usually presents as multiple cystic lesions on thoracic imaging. It is treated conservatively and tends to completely resolve after few months. In the absence of striking signs of trauma such as rib fractures, TPP can be mistaken for other cystic lung diseases. We present a case of TPP in a 17-year-old male who was seen for mild hemoptysis after falling off a cliff. The extent of his right lower lobe cystic lesions along with the lack of major signs of trauma led to an incorrect diagnosis of congenital pulmonary airway malformation. The patient was considered for lobectomy, which he refused. Imaging of the chest repeated one and three years later showed complete resolution of the lesions.
Case Report: SARS-CoV-2 Associated Acute Interstitial Nephritis in an Adolescent
Authors: Karolis Azukaitis, Justinas Besusparis, Arvydas Laurinavicius, Augustina Jankauskiene
Journal: Front Pediatr (2022)
Keywords: covid-19, sars-cov-2, acute interstitial nephritis, children, coronavirus, pediatric
MeSH terms: Case Reports

Acute interstitial nephritis (AIN) has been recently recognized as one of the infrequent kidney involvement phenotypes among adult patients with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Although SARS-CoV-2 associated intrinsic kidney disease has been scarcely reported in children, only one case of AIN temporally associated with the infection has been described in the pediatric population so far. We presented a case of a 12-year old boy who presented with fatigue, anorexia, and polydipsia following an RT-PCR that confirmed SARS-CoV-2 infection seven weeks prior to admission. Initial workup revealed increased serum creatinine (235 μmol/L), glucosuria, low-molecular-weight proteinuria, mild leukocyturia, and microhematuria with hyaline and granular casts on microscopy. Antibodies against the SARS-CoV-2 S protein receptor-binding domain confirmed prior infection with high titers. Kidney biopsy showed diffuse active interstitial nephritis with negative immunofluorescence and positive immunohistochemistry for SARS-CoV-2 in the inflammatory cells within the interstitium. Electron microscopy revealed several SARS-CoV-2-like particles. Kidney function continued to deteriorate despite several days of supportive therapy only (peak serum creatinine 272 μmol/L); thus, treatment with methylprednisolone pulse-dose therapy was initiated and was followed by oral prednisolone with gradual tapering. Kidney function completely recovered after 3 weeks post-discharge and remained normal after 11 weeks of follow-up (last estimated glomerular filtration rate 106 ml/min/1.73 m2) with only residual microhematuria. Our case adds to the emerging evidence of SARS-CoV-2 as a potential etiological agent of AIN in children and also suggests that interstitial kidney injury may result from secondary inflammatory damage. Epidemiological history, serologic testing, and SARS-CoV-2 detection in biopsy should be considered in the work-up of children with AIN of unknown etiology.
Extensive Deep Venous Thrombosis in a Patient with Neurolept Malignant Syndrome despite Being on Prophylaxis
Authors: Jerrin C Mathew, Unnikrishnan Pillai, Alexander Lacasse
Journal: Case Rep Psychiatry (2011)
MeSH terms: Case Reports

The risk of venous thromboembolism (VTE) in patients with Neuroleptic malignant syndrome (NMS) and those on antipsychotic medications is well established. We present here a case whereby the patient had NMS and developed extensive deep venous thrombosis (DVT) despite being on standard DVT Prophylaxis. Our case illustrates that empiric intravenous heparin for the initial few days after the onset of NMS may be considered in those with high risk of VTE, as in such patients standard DVT prophylaxis may not be sufficient. To standardize as to which patients with NMS would be at the highest risk of VTE while on standard DVT prophylaxis, the role of a standardized scoring system and a double-blind randomized trial in the future would probably be beneficial.
Case report: COVID-19-associated refractory thrombotic thrombocytopenic purpura complicated with Guillain-Barré syndrome
Authors: Rui Zhou, Shenjian Chen, Qinghua Luo, Xinyue Zhang, Fang Li, Wei Huang, Zhiyong Sheng
Journal: Front Neurol (2023)
Keywords: adamts-13, covid-19, guillain-barré syndrome, rituximab, thrombotic thrombocytopenic purpura
MeSH terms: Case Reports

Thrombotic thrombocytopenic purpura (TTP), a rare and lethal thrombotic microangiopathy, is an autoimmune disease that can be triggered by viral infections such as COVID-19. This condition is characterized by hemolytic microangiopathy, thrombocytopenia, and neurologic alterations, possibly accompanied by fever and renal damage. Moreover, more than 220 patients with Guillain-Barré syndrome (GBS) have been reported in association with the COVID-19 infection. In this report, we present a case of a patient who developed refractory TTP complicated by GBS following a SARS-CoV-2 infection. We aimed to highlight the importance of accurately diagnosing neurological complications associated with a COVID-19 infection and to demonstrate our strategies for treating a patient with COVID-19 infection-related refractory TTP complicated by GBS.
Malarial retinopathy in adult: a case report
Authors: Chantal Ngoune Nanfack, Yannick Bilong, Giles Kagmeni, Ngoulou Ngoulou Nathan, Lucienne Assumpta Bella
Journal: Pan Afr Med J (2017)
Keywords: cerebral malaria, retinal hemorrhages, retinopathy, visual acuity
MeSH terms: Antimalarials / administration & dosage, Malaria, Cerebral / diagnosis, Quinine / administration & dosage, Retinal Diseases / diagnosis, Case Reports, Adult, Age Factors, Cameroon, Humans, Malaria, Cerebral / complications, Malaria, Cerebral / drug therapy, Male, Retinal Diseases / drug therapy, Retinal Diseases / parasitology, Visual Acuity, Antimalarials, Quinine

Although widely reported in children, the malarial retinopathy has rarely been described in adults. We observed a case in the department of ophthalmology at the pediatric and gynecology-obstetrics Yaoundé Hospital. The diagnosis revealing a decrease in visual acuity was confirmed by thorough ophthalmological and biological assessments. The basic treatment by quinine therapy was conclusive. The authors point out the need to consider this diagnosis in case of any decrease in visual acuity in febrile context for any adult living or recently having stayed in endemic areas.
Male urethral sarcoma: a case report and literature review
Authors: Magno Almeida Nogueira, Guilherme Campelo Lopes Dos Santos, Roberto Iglesias Lopes, Octavio Henrique Arcos Campos, Marcos Francisco Dall'Oglio, Alexandre Crippa Sant'Anna
Journal: Einstein (Sao Paulo) (2016)
MeSH terms: Rare Diseases / pathology, Sarcoma / pathology, Urethral Neoplasms / pathology, Case Reports, Review, Aged, Fatal Outcome, Humans, Male

Urethral tumors are rare and aggressive. They usually affect men (2:1) and occur more commonly in white (85% of cases). Soft tissue sarcomas are a heterogeneous group of tumors that arise from embryonic mesoderm. It represents 1% of all cases of urinary tract malignancies and rarely primary affect the ureter. We report a case of male urethral sarcoma. To date, only two similar cases have been published in literature.
Prognosis of refractory neurosarcoidosis altered by thalidomide: a case report
Authors: J Chad Hoyle, Herbert B Newton, Steven Katz
Journal: J Med Case Rep (2008)

Introduction:
Sarcoidosis is a multisystem disease characterized by noncaseating granulomas in the lungs, skin, lymph nodes, and, rarely, the nervous system. Granuloma formation in sarcoidosis is mediated by increased secretion of interferon-gamma, interleukin-2, and tumor necrosis factor-alpha. 25% of patients with neurosarcoidosis are steroid resistant and another 20-40% are resistant to any conventional immunosuppression, but the typical agents suppress the immune system in a non-specific fashion. Thalidomide has been shown to have activity specific to the inflammatory mediators of sarcoidosis, has been shown to be beneficial in cutaneous sarcoidosis, and provides an interesting observation in our patient with refractory neurosarcoidosis.
Case presentation:
A 40 year old African-american female presented with refractory neurosarcoidosis. Over the course of several years, the patient was treated with high dose steroids, imuran, cytoxan, and cyclosporine without benefit. Then, the patient received thalidomide, slowly escalating to 650 mg. After 2 months radiologic improvement was noted and after 6 months clinical stabilization and improvement became apparent.
Conclusion:
Our case report presents a difficult, refractory case of neurosarcoidosis that demonstrates an altered prognosis based on the addition of thalidomide.
Paediatric T-cell lymphoma of the appendix: a case report
Authors: Yoshifumi Matsushita, Morishige Takeshita
Journal: Diagn Pathol (2013)
MeSH terms: Appendiceal Neoplasms / pathology, Lymphoma, T-Cell / pathology, Case Reports, Abdominal Pain / etiology, Appendectomy, Appendiceal Neoplasms / chemistry, Appendiceal Neoplasms / complications, Appendiceal Neoplasms / genetics, Appendiceal Neoplasms / microbiology, Appendiceal Neoplasms / surgery, Appendicitis / etiology, Biomarkers, Tumor / analysis, Biomarkers, Tumor / genetics, Chemotherapy, Adjuvant, Child, Genes, T-Cell Receptor gamma, Helicobacter pylori / isolation & purification, Humans, Immunohistochemistry, Lymphoma, T-Cell / chemistry, Lymphoma, T-Cell / complications, Lymphoma, T-Cell / genetics, Lymphoma, T-Cell / microbiology, Lymphoma, T-Cell / surgery, Male, Polymerase Chain Reaction, Time Factors, Treatment Outcome, Biomarkers, Tumor

A 7-year-old boy with no history of malnutrition or diarrhoea complained of acute abdominal pain, was diagnosed with acute appendicitis, and underwent appendectomy. Histologically, a diffuse infiltrate of large atypical lymphoid cells was found in the entire appendiceal wall. Immunohistochemical examination revealed that the tumour cells expressed T-cell receptor (TCR)-βF1, CD3, CD4, CD25, cytotoxic-related protein TIA1 and granzyme-B, but were negative for CD8, Foxp3, CD20, CD30 and CD56. Polymerase chain reaction (PCR) revealed clonal bands of TCR-γ gene products in the tumour tissue. No anti-cytomegalovirus antibody-positive cells were detected. In situ hybridization revealed no nuclear signals of Epstein-Barr virus (EBV)-encoded RNA. Helicobacter pylori infection was detected in tumour tissue by anti-East Asian cytotoxin-associated gene (Cag) A antibody and PCR using its specific primers. The patient received chemotherapy and has remained in remission for 2 years. To the best of our knowledge, only two cases of appendiceal T-cell non-Hodgkin lymphoma (NHL) have been reported, both in elderly patients. We believe that this is the first reported case of childhood CD4- and TIA1-positive cytotoxic T (Th1)-cell NHL in the appendix or gastrointestinal tract. Helicobacter pylori infection might be an initiator of atypical cytotoxic T-cell proliferation.
Virtual slides:
The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1302380563830412.