Entry of abnormal nervous stimuli after sciatic nerve transection proved to affect the functioning of renal mineralocorticoid receptors as a result of inadequate neurotrophic support of this organ. Drug blockade of both neural and humoral transmission of the abnormal stimuli from the injured nerve to the kidney prevented development of trophic disorders as indicated by the status of the renal mineralocorticoid receptor system. At the same time, drug stimulation of the sympathetic nervous system further affected aldosterone reception by this organ. beta-Blocker propranolol was shown to exert an antidystrophic effect in the case of local injuries of the neural system and, thus, prevented the development of neurogenic dystrophies.
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J Neurol
January 2025
Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari I Politècnic La Fe, Neuromuscular Reference Centre, ERN-EURO-NMD, Avenida de Fernando Abril Martorell 106, 46026, Valencia, Spain.
Background: Distal myopathies (MPDs) are heterogeneous diseases of complex diagnosis whose prevalence and distribution in specific populations are unknown.
Methods: Demographic, clinical, genetic, neurophysiological, histopathological and muscle imaging characteristics of a MPDs cohort from a neuromuscular reference center were analyzed to study their epidemiology, features, genetic distribution and factors related to diagnosis.
Results: The series included 219 patients (61% were men, 94% Spanish and 41% sporadic cases).
Int J Mol Sci
October 2024
Research Centre for Medical Genetics, 115478 Moscow, Russia.
We report a case of -associated autosomal recessive spinocerebellar ataxia (SCAR8) presenting with a complex multisystemic phenotype, including highly elevated creatine kinase levels and lower-leg muscle atrophy. In addition to identifying two novel pathogenic variants in the gene, whole-exome sequencing revealed three variants of uncertain significance in the gene. Electromyography and muscle magnetic resonance imaging indicated a neurogenic pattern of muscle involvement.
View Article and Find Full Text PDFIntern Med J
January 2025
Department of Neurology and Clinical Neurophysiology, Royal North Shore Hospital, Sydney, New South Wales, Australia.
Shoulder weakness with unilateral scapular winging is a common issue that initially presents to the general physician, sports physician or rheumatologist. Although most of these cases are neurogenic in nature, it is important to consider alternative causes for unilateral scapular winging. Muscular dystrophies can present with marked asymmetry, the most typical being facioscapulohumeral dystrophy (FSHD).
View Article and Find Full Text PDFRetinal Müller glia in cold-blooded vertebrates can reprogram into neurogenic progenitors to replace neurons lost to injury, but mammals lack this ability. While recent studies have shown that transgenic overexpression of neurogenic bHLH factors and glial-specific disruption of NFI family transcription factors and Notch signaling induce neurogenic competence in mammalian Müller glia, induction of neurogenesis in wildtype glia has thus far proven elusive. Here we report that viral-mediated overexpression of the pluripotency factor ( ) induces transdifferentiation of wildtype mouse Müller glia into bipolar neurons and stimulates this process synergistically in parallel with Notch loss of function.
View Article and Find Full Text PDFAnn Clin Transl Neurol
November 2024
Department of Neurology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
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