Thirty-two patients with primary forms of progressive muscular dystrophies (PMD) and denervational amyotrophies were examined. The basal blood levels of somatotrophic hormone (STH) were significantly decreased in the majority of PMD forms. The insulin test showed quantitatively different types of reactions of STH in denervational amyotrophies versus primary myodystrophies.
Download full-text PDF |
Source |
---|
Pathophysiology
January 2025
Postgraduate Program in Health Sciences, Faculty of Medicine of Jundiaí (FMJ), Jundiaí 13202-550, Brazil.
Duchenne muscular dystrophy (DMD) is a genetic disease characterized by a lack of dystrophin caused by mutations in the DMD gene, and some minor cases are due to decreased levels of dystrophin, leading to muscle weakness and motor impairment. Creatine supplementation has demonstrated several benefits for the muscle, such as increased strength, enhanced tissue repair, and improved ATP resynthesis. This preliminary study aimed to investigate the effects of creatine on the gastrocnemius muscle in dystrophy muscle (MDX) and healthy C57BL/10 mice.
View Article and Find Full Text PDFFront Neurosci
January 2025
Hospital Pediátrico Dr. Hugo Mendoza, Santo Domingo, Dominican Republic.
Spinal muscular atrophy (SMA) is a progressive genetic neuromuscular condition affecting spinal motor neurons. The underlying cause of SMA is deletions or mutations in the SMN gene. It is classified into five variants based on age and clinical manifestations of the patient.
View Article and Find Full Text PDFSurg Endosc
January 2025
Department of Gastroenterology and Hepatology, West China Hospital of Sichuan University, 37 Guo Xue Lane, Chengdu, 610041, Sichuan, China.
Objectives: Adverse events, such as postoperative pneumonia, can occur in some patients after esophageal endoscopic submucosal dissection (ESD). However, few studies have investigated it. As such, we aimed to develop a nomogram to evaluate the progression of postoperative pneumonia after esophageal ESD.
View Article and Find Full Text PDFJ Clin Invest
January 2025
Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, United States of America.
Background: Myotonic dystrophy type 1 (DM1) is a multisystemic, CTG repeat expansion disorder characterized by a slow, progressive decline in skeletal muscle function. A biomarker correlating RNA mis-splicing, the core pathogenic disease mechanism, and muscle performance is crucial for assessing response to disease-modifying interventions. We evaluated the Myotonic Dystrophy Splice Index (SI), a composite RNA splicing biomarker incorporating 22 disease-specific events, as a potential biomarker of DM1 muscle weakness.
View Article and Find Full Text PDFHeliyon
January 2025
Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
We report a case of a Chinese girl who presented with multiple seizure types of epilepsy, followed by motor and intellectual regression, vision impairment, and cerebral and cerebellar atrophy. She carries an unreported compound heterozygous variant of the ASAH1 gene and is diagnosed with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a disorder in which ceramide accumulation in lysosomes due to a decrease in acid ceramidase activity. This case suggests attention to this rare class of deceases involving both the central and peripheral nervous systems.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!