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Comprehensive analysis of GDF15 as a biomarker in primary mitochondrial myopathies.
Mol Genet Metab
January 2025
Neuromuscular Diseases Unit, Neurology Department, Hospital Universitario 12 de Octubre, Madrid, Spain; Mitochondrial and Neuromuscular Research Group '12 de Octubre', Hospital Research Institute (imas12), Madrid 28041, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Electronic address:
Background And Objectives: Mitochondrial diseases are caused by defects in oxidative phosphorylation, with primary mitochondrial myopathies (PMM) being a subset where muscle involvement is predominant. PMM presents symptoms ranging from exercise intolerance to progressive muscle weakness, often involving ocular muscles, leading to ptosis and progressive external ophthalmoplegia (PEO). PMM can be due to variants in mitochondrial or nuclear DNA.
View Article and Find Full Text PDFEvaluating ASC-4 Transfer Rates in Cataract Surgery: Insights into Timing and Causes of Hospital Transfers.
J Cataract Refract Surg
January 2025
Wolfe Eye Clinic, West Des Moines, IA, US.
Purpose: To describe the causes, timing, and contributing factors of direct hospital transfer cases from an ophthalmology-specific ambulatory surgery center and to identify potential strategies for decreasing future transfers.
Setting: A large ophthalmology surgery center in Des Moines, Iowa.
Design: Retrospective review.
New Directions for Ophthalmic OCT - Handhelds, Surgery, and Robotics.
Transl Vis Sci Technol
January 2025
Department of Biomedical Engineering, Duke University, Durham, NC, USA.
The introduction of optical coherence tomography (OCT) in the 1990s revolutionized diagnostic ophthalmic imaging. Initially, OCT's role was primarily in the adult ambulatory ophthalmic clinics. Subsequent advances in handheld form factors, integration into surgical microscopes, and robotic assistance have expanded OCT's utility and impact outside of its initial environment in the adult outpatient ophthalmic clinic.
View Article and Find Full Text PDFVestibular Hypofunction in Patients with Presbycusis: A Cross-Sectional Study.
J Clin Med
December 2024
Department of Neurology, Medical Faculty, University Hospital Carl Gustav Carus, TUD Dresden University of Technology, 01307 Dresden, Germany.
Vestibular Hypofunction (VH) and hearing loss can affect quality of life and lead to disability, especially in the elderly. Studies investigating presbycusis and vestibular function in the aging population have been conducted separately, but few have examined the combination of both conditions in older patients, with inconsistent results that may be due to small sample sizes or heterogeneity in the methods used to assess vestibular function. We aimed to characterize the occurrence of VH in patients with presbycusis using the video head impulse test (vHIT), which is a specific and reliable assessment tool for VH.
View Article and Find Full Text PDFSymptoms Prior to Diagnosis of Multiple Sclerosis in Individuals Younger Than 18 Years.
JAMA Netw Open
December 2024
Department of Epidemiology and Health Care Atlas, Central Research Institute of Ambulatory Health Care, Berlin, Germany.
Importance: A growing body of literature suggests the presence of a prodromal period with nonspecific signs and symptoms before onset of multiple sclerosis (MS).
Objective: To systematically assess diseases and symptoms diagnosed in the 5 years before a first MS- or central nervous system (CNS) demyelinating disease-related diagnostic code in pediatric patients compared with controls without MS and controls with another immune-mediated disorder, juvenile idiopathic arthritis (JIA).
Design, Setting, And Participants: This population-based, matched case-control study included children and adolescents (aged <18 years) in Germany with statutory health insurance from January 2010 to December 2020.
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