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Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study.
Eur J Neurol
January 2025
Department of Neurology, RWTH Aachen University, Aachen, Germany.
Background: Friedreich ataxia is a rare neurodegenerative disorder caused by frataxin deficiency. Both underweight and overweight occur in mitochondrial disorders, each with adverse health outcomes. We investigated the longitudinal evolution of anthropometric abnormalities in Friedreich ataxia and the hypothesis that both weight loss and weight gain are associated with faster disease progression.
View Article and Find Full Text PDFHypereosinophilic Syndrome Complicated by Eosinophilic Myocarditis: Embolic Stroke or Eosinophilic Stroke? A Case Report.
Turk Kardiyol Dern Ars
January 2025
Department of Cardiology, Isfahan University of Medical Sciences, Isfahan, Iran.
Hypereosinophilic syndrome (HES) is traditionally described as chronic peripheral eosinophilia with involvement of various organs and systems, including the heart and nervous system. In this report, we describe cardiac involvement and border zone stroke in a patient with idiopathic HES. A 37-year-old woman presented with sudden right-sided weakness and slurred speech, which began four days before admission, accompanied by palpitations, retrosternal exertional chest discomfort, dry cough, and progressive shortness of breath over approximately two months.
View Article and Find Full Text PDFSmith-Magenis syndrome with Dandy-Walker malformation in a 2-year-old girl: A case report.
J Int Med Res
January 2025
Department of Cardiac Surgery, The Second Hospital & Clinical Medical School, Lanzhou University, Lanzhou, Gansu, China.
Smith-Magenis syndrome (SMS) and Dandy-Walker malformation (DWM) are uncommon genetic conditions with nonspecific clinical features, which makes reaching a definitive diagnosis challenging. We describe here, a 2-year-old girl who was diagnosed with SMS at the age of 12 months due to delayed growth and development. The child presented to hospital with acute heart failure and respiratory failure.
View Article and Find Full Text PDFRoles of CDR2 and CDR2L in Anti-Yo Paraneoplastic Cerebellar Degeneration: A Literature Review.
Int J Mol Sci
December 2024
Cerebro, Emoción y Conducta, School of Medicine, Universidad de las Américas (UDLA), Quito 170124, Ecuador.
Paraneoplastic cerebellar degeneration (PCD) is a rapidly progressive, immune-mediated syndrome characterized by the degeneration of Purkinje cells, often associated with the presence of antibodies targeting intracellular antigens within these cells. These autoantibodies are implicated in the induction of cytotoxicity, leading to Purkinje cell death, as demonstrated in in vitro models. However, the precise roles of antibodies and T lymphocytes in mediating neuronal injury remain a subject of ongoing research, with T cells appearing to be the main effectors of cerebellar injury.
View Article and Find Full Text PDFDevelopment of a simple prediction model for tracheostomy requirement after surgical resection of medulloblastoma in children.
BMC Res Notes
January 2025
Shiraz Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Objective: Postoperative tracheostomy is a significant complication following medulloblastoma (MB) resection. This study aimed to develop a predictive model for postoperative tracheostomy requirement in children undergoing MB surgical resection. This model was derived as a side product of a larger research project analyzing surgical outcomes in pediatric MB patients.
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