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5-HT agonism as a neurotherapeutic for sarcopenia: preclinical proof of concept.
Geroscience
January 2025
Department of Physical Medicine and Rehabilitation, University of Missouri, Columbia, MO, USA.
Sarcopenia, the pathological age-related loss of muscle mass and strength, contributes to physical decline, frailty, and diminished healthspan. The impact of sarcopenia is expected to rise as the aging population grows, and treatments remain limited. Therefore, novel approaches for enhancing physical function and strength in older adults are desperately needed.
View Article and Find Full Text PDFNovel c.221+1dup pathogenic variant in AGK gene linked to Sengers syndrome.
Neuromuscul Disord
December 2024
University of Florida College of Medicine - Jacksonville, Jacksonville, FL, USA.
Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.
View Article and Find Full Text PDFTail Anchored protein insertion mediated by CAML and TRC40 links to neuromuscular function in mice.
PLoS Genet
January 2025
Department of Pediatric and Adolescent Medicine, Mayo Clinic, 200 1st St. SW, Rochester, Minnesota 55905, United States of America.
Motor neuron diseases, such as amyotrophic lateral sclerosis (ALS) and progressive bulbar palsy, involve loss of muscle control resulting from death of motor neurons. Although the exact pathogenesis of these syndromes remains elusive, many are caused by genetically inherited mutations. Thus, it is valuable to identify additional genes that can impact motor neuron survival and function.
View Article and Find Full Text PDFCerebral fat embolism following autologous fat injection in facial reconstruction: A case report.
World J Clin Cases
January 2025
Department of Neurology, Chongqing Emergency Medical Center, Chongqing University Central Hospital, Chongqing 400000, China.
Background: Autologous fat injection in facial reconstruction is a common cosmetic surgery. Although cerebral fat embolism (CFE) as a complication is rare, it carries serious health risks.
Case Summary: We present a case of a 29-year-old female patient who developed acute CFE following facial fat filling surgery.
Somatosensory-Evoked Potentials and Clinical Assessments of Sensory Function Over Time in Patients With Subacute Stroke.
Neural Plast
January 2025
Department of Rehabilitation Medicine, School of Medicine, Tokai University, Kanagawa, Japan.
To demonstrate the utility of somatosensory evoked potentials (SEPs) following median nerve stimulation for chronological assessment of sensory function in patients with subacute stroke during rehabilitation. Retrospective study. Forty-seven patients with hemiparesis due to stroke during the subacute phase.
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