Oxidative damage and mitochondrial dysfunction in cystathionine beta-synthase deficiency.

Cystathionine beta-synthase deficiency (CBSD) is the most prevalent inherited disorder of homocysteine metabolism in the transsulphuration pathway. Research have suggested oxidative stress and inflammation as candidate pathogenic mechanisms in CBSD. This study aims to evaluate mitochondrial dysfunction and oxidative stress biomarkers in cystathionine beta-synthase deficiency (CBSD) patients, which may aid in understanding the pathogenesis of CBSD and improving treatment.

Oxford nanopore sequencing-based assay for BTD gene screening: Design, clinical validation, and variant frequency assessment in the Turkish population.

Biotinidase deficiency (BTD) is an autosomal recessive disorder characterized by impaired recycling of the water-soluble vitamin biotin which leads to a spectrum of clinical manifestations ranging from mild to severe, including mainly neurological and cutaneous symptoms. Biotin supplementation is a cornerstone of treatment, but diagnosis often relies on measuring serum enzyme activity, which needs to be confirmed by genetic analysis. Thus, molecular methods become necessary in the differential diagnosis of BTD.

The effects of thinning on carbon and nutrient fluxes input into forest floor via litterfall in black pine afforestation sites.

As a component of the biogeochemical cycle, litterfall contributes carbon and nutrients to forest ecosystems by transferring organic material to mineral soil. Litterfall therefore serves as an important indicator for soil fertility and ecosystem health. This study aimed to determine the impact of different levels of thinning (light, moderate, and heavy) on litterfall quantity (needles, branches, bark, cones, and miscellaneous parts) and on the amount of carbon and nutrients entering the ecosystem in black pine afforestation areas.

Severity of coronary artery disease is associated with diminished circANRIL expression: A possible blood based transcriptional biomarker in East Africa.

Antisense Noncoding RNA in the INK4 Locus (ANRIL) is the prime candidate gene at Chr9p21, the well-defined genetic risk locus associated with coronary artery disease (CAD). ANRIL and its transcript variants were investigated for the susceptibility to CAD in adipose tissues (AT) and peripheral blood mononuclear cells (PBMCs) of the study group and the impact of 9p21.3 locus mutations was further analysed.

Investigation of Novel Solid Dielectric Material for Transformer Windings.

Improvement techniques aimed at enhancing the dielectric strength and minimizing the dielectric loss of insulation materials have piqued the interest of many researchers. It is worth noting that the electrical breakdown traits of insulation material are determined by their electrochemical and mechanical performance. Possible good mechanical, electrical, and chemical properties of new materials are considered during the generation process.