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Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: novel cases of Familial Chylomicronemia Syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society.
Genet Med
January 2025
Lipids and Atherosclerosis Laboratory, Department of Medicine and Dermatology, Centro de Investigaciones Médico Sanitarias (CIMES), Instituto de Investigación Biomédica de Málaga y Plataforma en Nanomedicina (IBIMA -Plataforma Bionand), University of Málaga, Málaga, Spain; Lipid Unit. Internal Medicine Service. University Hospital Virgen de la Victoria, Málaga, Spain.
Purpose: Genetic testing is required to confirm a diagnosis of familial chylomicronemia syndrome (FCS). We assessed the pathogenicity of variants identified in the FCS canonical genes to diagnose FCS cases.
Methods: 245 patients with severe hypertriglyceridemia underwent next-generation sequencing.
A review of the roles of exosomes in salivary gland diseases with an emphasis on primary Sjögren's syndrome.
J Dent Sci
January 2025
State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China.
Salivary gland diseases encompass a broad range of conditions, including autoimmune, inflammatory, obstructive, and neoplastic disorders, significantly impacting oral health and overall well-being. Recent research has highlighted the crucial role of exosomes, small extracellular vesicles, in these diseases. Exosomes mediate intercellular communication by transferring bioactive molecules such as proteins, microRNAs, and lipids, positioning them as potential diagnostic biomarkers and therapeutic agents.
View Article and Find Full Text PDFStudy of dynamic brain function in irritable bowel syndrome via Hidden Markov Modeling.
Front Neurosci
January 2025
Department of Radiology, Affiliated Hospital of North Sichuan Medical College, Nanchong, China.
Background And Purpose: Irritable bowel syndrome (IBS) is a common bowel-brain interaction disorder whose pathogenesis is unclear. Many studies have investigated abnormal changes in brain function in IBS patients. In this study, we analyzed the dynamic changes in brain function in IBS patients using a Hidden Markov Model (HMM).
View Article and Find Full Text PDFRisk Factors of Hemophagocytic Lymphohistiocytosis in Adults with Fever of Unknown Origin: A Retrospective Study.
Int J Gen Med
January 2025
Department of Infectious Diseases, Tongji Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People's Republic of China.
Purpose: Hemophagocytic lymphohistiocytosis (HLH) is a critical syndrome with a high mortality rate. In clinical practice, some patients with fever of unknown origin (FUO) can develop HLH, further complicating the diagnosis and treatment. However, studies on HLH in adults with FUO are limited.
View Article and Find Full Text PDFDiagnostic Value of Measurements of Median Nerve Diameter at the Site of the Maximal Stenosis in Carpal Tunnel Syndrome.
Int J Gen Med
January 2025
Department of Neurology, Jagiellonian University Medical College, Krakow, Poland.
Introduction: Ultrasonography is increasingly used to diagnose the carpal tunnel syndrome (CTS). Most frequently, the enlargement of the nerve cross-sectional area (CSA) at the tunnel inlet serves to confirm the diagnosis. Recent research has shown that the nerve diameter is decreased within the tunnel, when measured at the level of pisiforme or capitatum.
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