نتایج جستجو برای: muscular diseases
تعداد نتایج: 885536 فیلتر نتایج به سال:
Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been identified, but several cases of congenital muscular dystrophy remain molecularly unresolved. We examined 15 individuals with a congenital muscular dystrophy characterized by earl...
1. Alanine Aminotransferase (ALT) Alanine aminotransferase measurements are used in the diagnosis and treatment of certain liver diseases (e.g., viral hepatitis and cirrhosis) and heart diseases. Elevated levels of the transaminases can indicate myocardial infarction, hepatic disease, muscular dystrophy, or organ damage. Serum elevations of ALT activity are rarely observed except in parenchymal...
Muscular dystrophies are a group of genetic disorders characterized by muscle degeneration and consequent substitution by fat and fibrous tissue. Cardiac involvement is an almost constant feature in a great part of these diseases, as both primary myocardial involvement and secondary involvement due to respiratory insufficiency, pulmonary hypertension or reduced mobility. Primary myocardial invo...
Neuromuscular diseases can have a tremendous impact on pregnant women and affect offspring. Healthcare providers need to have a firm understanding of the genetics involved as well as the potential complications that can arise when treating pregnant women who have been diagnosed with a neuromuscular disease or have an increased risk for delivering an infant affected by one of these disorders. Th...
S100B is a calcium-binding protein mainly expressed by astrocytes, but also localized in other definite neural and extra-neural cell types. While its presence biological fluids widely recognized as reliable biomarker of active injury, growing evidence now indicates that high levels are suggestive pathogenic processes different neural, extra-neural, disorders. Indeed, modulation correlates with ...
Background: Myopathies are a group of neuro muscular diseases that cause muscle weakness, cramps, and spasms due to primary defect the fiber. We undertook this study hereditary disorders identify clinical patterns laboratory findings in these conditions correlation between them, which will help recognizing them early for adequate management with rehabilitation measures prognostication. Aim: To ...
Various muscular dystrophies are associated with the defective glycosylation of alpha-dystroglycan and are known to result from mutations in genes encoding glycosyltransferases. Fukutin-related protein (FKRP) was identified as a homolog of fukutin, the defective protein in Fukuyama-type congenital muscular dystrophy (FCMD), that is thought to function as a glycosyltransferase. Mutations in FKRP...
The primary muscle disorders are a diverse group of diseases caused by various defective structural proteins, abnormal signaling molecules, enzymes and proteins involved in posttranslational modifications, and other mechanisms. Although there is increasing clarification of the primary aberrant cellular processes responsible for these conditions, the decisive factors involved in the secondary pa...
Cardiomyopathy is often found in patients with Duchenne and Becker muscular dystrophy, which are X linked muscle diseases caused by mutations in the dystrophin gene. Dystrophin defects present in many different ways and cases of mild Becker muscular dystrophy have been described in which cardiomyopathy was severe. Female carriers of Duchenne muscular dystrophy can develop symptomatic skeletal m...
The correlation between Becker muscular dystrophy (BMD) and vitamin D has long been known, since controls bone turnover which occurs in this disease. Thus, is beneficial to some extent BMD patients due the fact that it known play an important part metabolism. According recent studies suggest association multiple diseases involving organs, may alleviate pathophysiology of BMD. This review focuse...
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