Modifiable risk factors, oxidative stress markers, and SOD2 rs4880 SNP in coronary artery disease: an association study.

BACKGROUND: Coronary artery disease (CAD) has been linked to single nucleotide polymorphism (SNP) in superoxide dismutase 2 (SOD 2) gene. Additionally, several modifiable risk factors are also known to influence the CAD risk. AIM: To investigate the association between selected modifiable risk factors and oxidative stress markers with the SOD2 rs4880 SNP in CAD patients. METHODS: A cohort of 150 angiographically confirmed CAD patients, and 100 control subjects in the same geographic area were enrolled. SOD levels and lipid peroxidation were assessed in the blood samples using standard protocols. The genotyping of the SOD2 gene was conducted through the PCR-sequencing method. RESULTS: This study indicated that CAD patients with the rs4880 SNP having heterozygous AG and mutated homozygous GG genotypes have increased oxidative stress, decreased SOD activity, and a positive association with CAD risk (OR 2.85) in comparison with control individuals. The investigation among CAD patients was then carried out based on modifiable risk factors. The risk factors selected were clinical characteristics, physical habits, nutritional status, and body mass index. In all the cases, MDA levels showed a positive association, and SOD activity showed a negative association with the selected polymorphism. CONCLUSIONS: The study suggests that the selected modifiable risk factors have an important role in the higher oxidative stress found in patients, which may lead to SOD2 polymorphism. It also suggests that the SOD2 locus can be identified as a marker gene for CAD susceptibility.

Oncogenic Genodermatoses in Pediatric Skin of Color: A Review.

Cutaneous neoplasms are relatively rare in children. Most commonly, skin cancers arise through environmental factors, particularly ultraviolet radiation; thus, age is the most predictive factor in developing cutaneous carcinomas. However, children born with certain genodermatoses are significantly more likely to develop malignancies and must carefully be monitored and treated. The preponderance of published data is based mainly on signs and symptoms present in White patients. Therefore, we aim to highlight the cutaneous presentations and relative differences of these genodermatoses among skin-of-color (SOC) patients, who are underrepresented in medicine. We conducted a literature review of 504 patients presented in 236 published articles. Manuscripts with accessible case reports for children aged 17 or younger were included. SOC patients often present with fewer classic findings and have a higher incidence of scarring and dyspigmentation. There is also a higher incidence of consanguinity in affected patients. Providers being able to recognize non-classical signs enable proper management and treatment regimens, potentially bringing SOC patient outcomes more in line with White children.