Identification of novel mutations in and genes in families exhibiting thiamine metabolism dysfunction syndrome.

Background And Aims: The occurrence of thiamine metabolism dysfunction syndrome (THMD), a rare autosomal recessive condition, may be linked to various mutations found in the and genes. The disease chiefly manifests through ataxia, muscle hypotonia, abrupt or subacute onset encephalopathy, and a decline in developmental milestones achieved during the early stages of infancy. We present findings from an investigation that involved two individuals from Iran, both of whom experienced seizures along with ataxia and hypotonia.

A systematic review and meta-analysis of association between brain-derived neurotrophic factor and type 2 diabetes and glycemic profile.

Several epidemiologic studies have evaluated the relation between serum/plasma brain-derived neurotrophic factor (BDNF) levels and glycemic parameters, but the findings were conflicting. We performed a systematic review and meta-analysis to compare circulating BDNF levels in individuals with type 2 diabetes (T2D) or other glycemic disorders with healthy controls and to evaluate correlation between BDNF concentrations with glycemic profile. A systematic search up to July 2020 was conducted in reliable electronic databases (MEDLINE (Pubmed), EMBASE, Scopus) and Google scholar.