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Tail 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 PDFLeft Main Coronary Artery Ostial Stenosis Caused by Syphilitic Aortitis Presenting With Syncope.
JACC Case Rep
January 2025
Department of Cardiovascular Medicine, Kobe City Medical Center General Hospital, Kobe, Japan.
A 51-year-old man with a history of antibiotic therapy for syphilis 1 month ago presented with syncope. Computed tomography revealed circumferential aortic wall thickening complicating severe stenosis of left main coronary ostium. Abnormalities in serologic and cerebrospinal fluid tests led to the diagnosis of syphilitic aortitis and neurosyphilis.
View Article and Find Full Text PDFNeural Stem/Progenitor Cell Therapy in Patients and Animals with Amyotrophic Lateral Sclerosis: A Systematic Review and Meta-analysis.
Mol Neurobiol
January 2025
Hebei Medical University-Galway University Stem Cell Research Center, Hebei Medical University, Shijiazhuang, Hebei Province, 050017, China.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative malady that causes progressive degeneration and loss of motor neuron function in the brain and spinal cord, eventually resulting in muscular atrophy, paralysis, and death. Neural stem/progenitor cell (NSPC) transplantation can improve bodily function in animals and delay disease progression in patients with ALS. This paper summarizes and analyzes the efficacy and safety of neural stem/progenitor cell (NSPC) transplantation as a treatment for ALS, aiming to improve function and delay disease progression in patients.
View Article and Find Full Text PDFRespiratory failure as main presentation sign of MAPT-related disorder.
J Neurol
January 2025
Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.
Introduction: The MAPT gene encodes Tau, a protein mainly expressed by neurons. Tau protein plays an important role in cerebral microtubule polymerization and stabilization, in axonal transport and synaptic plasticity. Heterozygous pathogenic variation in MAPT are involved in a spectrum of autosomal dominant neurodegenerative diseases known as taupathies, including Alzheimer's disease, Pick's disease, fronto-temporal dementia, cortico-basal degeneration and progressive supranuclear palsy.
View Article and Find Full Text PDFNavigating the Complexities of Anterior Cord Syndrome in a 71-Year-Old: A Case Study of Vertebral Osteomyelitis and Methicillin-Resistant Staphylococcus aureus Bacteremia.
Cureus
December 2024
Internal Medicine, Merit Health Wesley, Hattiesburg, USA.
Anterior cord syndrome is a rare yet critical neurological condition that poses significant challenges in clinical management. We present the case of a 71-year-old male with a medical history of hypertension, uncontrolled type II diabetes mellitus, hypothyroidism, and end-stage renal disease requiring dialysis who presented to the emergency department with complaints of chills, back pain, abdominal pain, and vomiting episodes. Based on the severity of the patient's illness, it was decided that inpatient admission would be best.
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