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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.
Parsonage-Turner Syndrome and Occupational Therapy Interventions: A Case Report.
Cureus
December 2024
Department of Occupational Therapy, Grand Valley State University, Grand Rapids, USA.
Parsonage-Turner syndrome (PTS) is a rare brachial plexus neuropathy with a sudden onset of upper extremity pain, weakness, and loss of range of motion (ROM). Studies on occupational therapy (OT) interventions are limited. The aim of this case report was to explore the OT experiences, interventions, and outcomes of a patient with PTS.
View Article and Find Full Text PDFCase report: Endolymphatic sac tumor with blurred vision.
Front Oncol
January 2025
The Second Clinical Medicine College, Jinan University, Shenzhen, China.
Introduction: Endolymphatic sac tumor (ELST) is a rare neoplasm that exhibits aggressive growth primarily in the endolymphatic capsule and can potentially affect nearby neurovascular structures. The diagnosis of ELST poses challenges due to its low prevalence, gradual progression, and nonspecific symptomatology. It is currently believed that prompt surgical intervention is recommended for endolymphatic sac tumors upon diagnosis.
View Article and Find Full Text PDFDeep learning-based algorithm for classifying high-resolution computed tomography features in coal workers' pneumoconiosis.
Biomed Eng Online
January 2025
Department of Pulmonary and Critical Care Medicine, National Health Commission Key Laboratory of Pneumoconiosis, Shanxi Key Laboratory of Respiratory Diseases, First Hospital of Shanxi Medical University, No. 85 Jiefang South Road, Taiyuan, 030001, Shanxi, People's Republic of China.
Background: Coal workers' pneumoconiosis is a chronic occupational lung disease with considerable pulmonary complications, including irreversible lung diseases that are too complex to accurately identify via chest X-rays. The classification of clinical imaging features from high-resolution computed tomography might become a powerful clinical tool for diagnosing pneumoconiosis in the future.
Methods: All chest high-resolution computed tomography (HRCT) medical images presented in this work were obtained from 217 coal workers' pneumoconiosis (CWP) patients and dust-exposed workers.
Impact of family socio-economic status on the prognosis of heart transplantation in children.
BMC Public Health
January 2025
Department of Cardiac Surgery, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, 167A Beilishi Road, Xi Cheng District, Beijing, 100037, China.
Background: Low family socio-economic status is a known factor that can contribute to increased mortality for patients with cardiovascular disease. However, in developing countries, the prognostic impact of socio-economic level on pediatric HTx is unclear.
Methods: We conducted a retrospective cohort analysis of children younger than 18 years who underwent heart transplantation (HTx) at our center from October 1, 2005, to May 31, 2023.
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