Prader–Willi syndrome (PWS) is the commonest genetic cause of obesity. Oxidative stress and chronic low-grade inflammation play a crucial role in the pathogenesis of obesity. Alterations of vitamin D (25-OHD) levels are commonly encountered with obesity. The aim of this study was to analyze serum chemerin, oxidized low-density lipoprotein (ox-LDL), and 25-OHD values in pediatric PWS patients in comparison with obese healthy children and nonobese control groups, highlighting possible correlations with body mass index (BMI) and obesity. Twenty-six PWS Egyptian patients and 26 obese healthy individuals referred to the outpatient clinic of the Clinical Genetics Department, National Research Centre, Cairo, Egypt, and 20 control patients with matching age and sex were enrolled in the study. Patients were clinically diagnosed and confirmed by routine cytogenetic and fluorescence in-situ hybridization analysis. Anthropometric measurements were performed, and BMI was calculated by weight/height2 (kg/m2), and BMI z score was also determined. Serum chemerin, ox-LDL, and vitamin D were determined by enzyme-linked immunosorbent assay. Chemerin levels, which reflected chronic inflammation, were significantly elevated as compared with obese and nonobese controls (p ≤ 0.0001). Concerning oxidative damage, children with PWS showed higher Ox-LDL levels compared with obese and nonobese controls (p < 0.0001). Vitamin D levels were significantly lower in PWS patients compared with obese and nonobese controls (p ≤ 0.0001). Our data showed that obesity in PWS is associated with oxidative stress and chronic low-grade inflammation. Ox-LDL is a good indicator of oxidative stress, and chemerin could be used as a biomarker for the chronic inflammatory state. Furthermore, vitamin D supplementation is recommended in PWS patients
Background: Alzheimer's disease (AD) is a common and severe neurodegenerative disorder. Human chromosomes telomeres are essential for the maintenance of genomic stability and play prominent roles in both cellular senescence and ageing of the organisms. Regulation of telomere length (TL) is a result of complex interaction between environmental and genetic factors. Aim: measuring the length of telomere length in AD patients by Quantitative Florescence in Situ Hybridization (Q-FISH) methodology and studying of smoking as an environmental risk factor in the development of Alzheimer's disease. Subjects and Methods: This study included 10 AD patients and 10 controls. All blood samples were collected measured by using Q-FISH to assess the telomere length. Results: It was found a significant difference in TL between AD patients and the controls, with a standardized mean difference resulted p = 0.03 were considered statistically significant which is still significant p < 0.05. Smokers had shorter telomeres length in AD patients than non-smokers. Conclusion: A significant correlation was found between AD and telomere length shortening. The environmental influence of smoking had an additional effect on telomere shortening in AD.
Background: Klinefelter Syndrome (KS) is the most common sex chromosome aneuploidy (47, XXY), with the existence of an extra chromosome that produces increased levels of gene products and changes in gene expression and contributing to proinflammatory status. Aim: identifying the impact of heat shock proteins and tumor Necrosis Factor on KF pathogenesis. Methods: This study included 35 Klinefelter patients, their age ranged from 8-16 years (14.14±1.95). Patients were clinically diagnosed, then karyotype was performed to all patients. Biochemical analyses including Heat shock proteins (HSPs) and the proinflammatory marker TNF-α were performed. Results: Developmental delay occurred in 48.6% and facial dysmorphism including epicanthal folds, hypertelorism, depressed nasal bridge in 28.6%, gynecomastia in 28.6%, undescended Testis in 60%, increased height in 69.6%, congenital heart disease in 54.3%, intellectual disability in 57.1% and the karyotype was 47, XXY in all patients. The level of Heat Shock Protein –70 and TNF α in Klinefelter syndrome patients was higher compared to the normal controls. Moreover, the level of heat Shock Protein –70 and TNF α in the patients with Klinefelter syndrome and intellectual disability was higher than those without intellectual disability. On the other hand, testosterone level was decreased in KF patients compared to controls. Moreover, a significant negative correlation was observed between testosterone and both Heat Shock Protein –70 and TNF- α. Conclusion: The particular impacts of Heat Shock Protein –70 and TNF- α remain to be elucidated in future studies to enlighten their importance and possible association with the severity of Klinefelter syndrome.
Objectives Premature atherosclerosis and ischemic heart disease represent a major cause of comorbidities among children with Turner syndrome. The identification of non-traditional risk aspects is crucial for the early identification and management of such comorbidities through establishing effective preventive measures. The aim of the study is to explore the role of the deficiency of vitamin B12, folic acid and homocysteine in children with Turner syndrome. Methods The study included 78 children with Turner syndrome and 67 healthy age and sex matched children. Karyotype was implemented for all patients. The serum levels of vitamin B12, folic acid and serum homocysteine were assessed. The prevalence of the deficiency of vitamin B12 and folic acid was estimated to study its correlation to hyperhomocysteinemia in Turner syndrome children. Results The karyotype analysis showed 45,X (monosomy X) in the 78 patients. Vitamin B12 and folic acid were significantly decreased in children with Turner syndrome in 65–73% of the patients, respectively, while the serum level of homocysteine significantly increased to 48.7% compared to healthy controls. Homocysteine level negatively correlated with vitamin B12 and folic acid. The deficiency of vitamin B12 and folic acid increased the risk of hyperhomocysteinemia in children with Turner syndrome (OR 2.49 and 2.36, respectively). Conclusions This report highlights that hyperhomocyste-inemia in children with Turner syndrome may be related to the deficiency vitamin B12 and folic acid.
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