Introduction: Myasthenia gravis (MG), considered the commonest of all the illnesses that affect neuromuscular transmission, is a disorder in which the autoimmune system attacks the post synaptic acetylcholine receptor proteins in the end plate terminal; it is characterised by weakness and skeletal muscle fatigue, with no anomalies in reflexes, sensitivity or coordination. Epidemiological indicators, such as incidence and prevalence, are not known in Colombia. AIMS.
View Article and Find Full Text PDFObjective: To perform linkage analysis between the Short Tandem Repeats (STR) microsatellite markers D19S923, D19S929, D19S22, which are in strong genetic linkage to Notch3 gene in order to contrast the hypothesis that the vascular hereditary dementia phenotype described in a multigenerational extended pedigree from Colombia correspond to CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy). Even we know that using techniques as the Single Strand Conformational Polymorphisms (SSCP) could determine mutations in Notch3, the rationality of this approach is that intronic variations could not be defined and that we are interested in determine if some forms of the clinical presentation and its phenotypic variability make part of CADASIL.
Introduction: The CADASIL phenotype is caused by mutations in the Notch3 gene.
Introduction: Multiple sclerosis (MS) is the commonest demyelinating condition of the nervous system. It is characterized by numerous demyelinating areas or plaques of demyelination which are found dispersed throughout the nervous system. It has been shown that MS is less frequent in tropical regions than in subtropical regions.
View Article and Find Full Text PDFThe allelic frequencies of 14 polymorphic loci were obtained for the Paisa community (Antioquia, Colombia) and compared with those of Caucasoids, Negroids and Amerindians as an approach to better understand its ancestral origin. Data pertaining to Caucasoids included Basques, Spaniards and Jews, historically assumed to be the ancestors of Paisas. These comparisons suggested that the Paisa community is a Caucasoid group with very low Amerindian or Negroid contributions.
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