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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.
Review of Challenges in Performing Real-World Evidence Studies for Nonprescription Products.
Pragmat Obs Res
January 2025
Global Medical Affairs, GSK Consumer Healthcare Singapore Pte. Ltd, Singapore.
In recent years, regulatory authorities have signaled a willingness to consider real-world evidence (RWE) data to support applications for new claims and indications for pharmaceuticals. Historically, RWE studies have been the domain of prescription drugs, driven by the fact that clinical data on patients are routinely captured in medical records, claims databases, registries, etc. However, RWE reports of nonprescription drugs and supplements are relatively sparse due to methodological gaps in this area.
View Article and Find Full Text PDFDevelopment and characterisation of a novel complex triple cell culture model of the human alveolar epithelial barrier.
In Vitro Model
June 2024
In Vitro Toxicology Group, Faculty of Medicine, Health and Life Sciences, Swansea University Medical School, Swansea University, Sketty, Wales SA2 8PP UK.
Unlabelled: Owing to increased pressure from ethical groups and the public to avoid unnecessary animal testing, the need for new, responsive and biologically relevant in vitro models has surged. Models of the human alveolar epithelium are of particular interest since thorough investigations into air pollution and the effects of inhaled nanoparticles and e-cigarettes are needed. The lung is a crucial organ of interest due to potential exposures to endogenous material during occupational and ambient settings.
View Article and Find Full Text PDFBiosafety Management Practices Among Clinical Laboratory Professionals in Debre Berhan Town Governmental Hospitals, Ethiopia: A Cross-Sectional Study.
Health Sci Rep
January 2025
Department of Medical Laboratory Science, College of Health Science Debre Berhan University Debre Berhan Ethiopia.
Background And Aims: Clinical laboratories play a vital role in modern healthcare, where laboratory test results significantly influence medical decisions. However, laboratory professionals are often exposed to hazardous biological materials, underscoring the importance of biosafety management. This study aimed to assess biosafety practices among clinical laboratory professionals in Debre Berhan town, Ethiopia.
View Article and Find Full Text PDFCoxiellosis in Dogs-A Hitherto Masked Zoonosis in India: An Insight From Seromolecular Investigation and Risk Factor Analysis.
Can J Infect Dis Med Microbiol
January 2025
Meat Microbiology, ICAR-National Meat Research Institute, Hyderabad, Telangana, India.
is an airborne bacterial zoonotic pathogen that causes Q fever/coxiellosis in humans and animals. Although dogs are suspected of transmitting Q fever to humans in past outbreaks, the prevalence of in the Indian dog population and risk factors for infection remain unknown. In this study, 452 dogs from pet clinics in three Indian states were screened for coxiellosis using molecular (Trans-PCR, Com 1-PCR) and serological (IFAT) tests.
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