Publications by authors named "Emecen D"
Article Synopsis
- Sepsis is a serious condition caused by an abnormal immune response to infection, and the study focuses on how genetic differences in the vitamin D receptor (VDR) gene, specifically the FokI polymorphism, may influence outcomes in sepsis patients.
- The study analyzed 192 patients (96 with sepsis and 96 without) in the ICU and found that in-hospital mortality was significantly higher in the sepsis group (27.1%) compared to the non-sepsis group (8.33%).
- Results indicated that while there was no significant difference in VDR genotype frequencies between survivors and non-survivors in the sepsis group, those with the homozygous C allele had lower mortality rates, suggesting a potential
Aim: Mucopolysaccharidosis type III B (MPS IIIB) is an autosomal recessive lysosomal storage disease caused by mutations in the gene which codes the lysosomal enzyme alpha--acetylglucosaminidase. The major symptoms of the disease are cognitive and neurological defects. In this study, the molecular spectrums of 13 MPS IIIB patients were evaluated.
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