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Browsing Public Health by Author "Bader, Khaldoun"
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- ItemIron metabolism in autism spectrum disorder; inference through single nucleotide polymorphisms in key iron metabolism genes.(2023-10-14T21:00:00Z) Rabaya, Sabha; Nairat, Sameera; Bader, Khaldoun; Herzallah, Mohammad M; Darwish, Hisham MAutism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental problems with various genetic and environmental components. The ASD diagnosis is based on symptom expression without reliance on any biomarkers. The genetic contributions in ASD remain elusive. Various studies have linked ASD with iron. Since iron plays a crucial role in brain development, neurotransmitter synthesis, neuronal myelination and mitochondrial function, we hypothesized that iron dysregulation in the brain could play a role and contribute to the pathogenesis of ASD. In this study, we investigated single nucleotide polymorphisms in ASD in various iron metabolism genes, including the Transferrin Receptor (TFRC) gene (rs11915082), the Solute Carrier Family 11 Member 2 (SLC11A2) gene (rs1048230 and rs224589), the Solute Carrier Family 40 Member 1 (SLC40A1) gene (rs1439816), and hepcidin antimicrobial peptide (HAMP) gene (rs10421768). We recruited 48 patients with ASD and 88 matched non-ASD controls. Our results revealed a significant difference between ASD and controls in the G allele of the TFRC gene rs11915082, and in the C allele of the SLC40A1 gene rs1439816. In silico analysis demonstrated potential positive role of the indicated genetic variations in ASD development and pathogenesis. These results suggest that specific genetic variations in iron metabolism genes may represent part of early genetic markers for early diagnosis of ASD. A significant effect of SNPs, groups (ASD/control) as well as interaction between SNPs and groups was revealed. Follow-up post hoc tests showed a significant difference between the ASD and control groups in rs11915082 (TFRC gene) and rs1439816 (SLC40A1 gene). Backward conditional logistic regression using both the genotype and allele data showed similar ability in detecting ASD using allel model (Nagelkerke R = 0.350 p = 0.967; Variables: rs1439816, rs11915082) compared to genotype model (Nagelkerke R = 0.347, p = 0.430; Variables: rs1439816 G, rs1439816 C, rs10421768 A). ROC curve showed 54% sensitivity in detecting ASD compared to 47% for the genotype model. Both models differentiated controls with high accuracy; the allele model had a specificity of 91% compared to 92% for the genotype model. In conclusion, our findings suggest that specific genetic variations in iron metabolism may represent early biomarkers for a diagnosis of ASD. Further research is needed to correlate these markers with specific blood iron indicators and their contribution to brain development and behavior.
- ItemReliability and validity of the Arabic version of the Early Onset Scoliosis 24 Items Questionnaire (EOSQ-24).(2018-12-31T22:00:00Z) Hanbali, Yahia; Perry, Tony; Hanif, Asif; Matsomotu, Hiroko; Musmar, Haytham; Bader, Khaldoun; Azmi Ahmad, AlaaeldinEarly Onset Scoliosis (EOS) is a complex pathology that covers a variety of etiologies, with onset before the age of 10 years. Surgical treatment of EOS should have the objectives of fulfilling maximum pulmonary function, spine length, with minimal hospitalizations, complications, and family burden. Radiographic parameters are an important standard in assessing treatment outcomes. However, the Early Onset Scoliosis Questionnaire-24 (EOSQ-24) was developed to measure the wider dimensions of outcomes involving the quality of life of patients and caregivers post-treatment. The aim of this study was to evaluate the validity and reliability of culturally adapted Arabic version of the EOSQ-24.
- ItemSerum 25-hydroxyvitamin D and bone turnover markers in Palestinian postmenopausal osteoporosis and normal women(Springer, 2017-01-26) Kharroubi, Akram; Saba, Elias; Smoom, Riham; Bader, Khaldoun; Darwish, HishamSummary This study evaluated the association of vitaminD and bone markers with the development osteoporosis in Palestinian postmenopausal women. Even though vitamin D deficiency was very high for the recruited subjects, it was not associated with osteoporosis except for bones of the hip. Age and obesity were the strongest determining factors of the disease. Purpose The purpose of this study was to investigate the association of bone mineral density (BMD) with serum vitamin D levels, parathyroid hormone (PTH), calcium, obesity, and bone turnover markers in Palestinian postmenopausal women. Methods Three hundred eighty-two postmenopausal women (≥45 years) were recruited from various women clinics for BMD assessment (131 women had osteoporosis and 251 were normal and served as controls). Blood samples were obtained for serum calcium, PTH, 25(OH)D, bone formation (N-terminal propeptide (PINP)), and bone resorption (serum Cterminal telopeptide of type I collagen (CTX1)) markers. Results Women with osteoporosis had statistically significant lower mean weight, height, body mass index (BMI), and serum calcium (p < 0.05) compared to controls. No significant differences were detected between the mean values of bone turnover markers (CTX and PINP), 25(OH)D, and PTH of the two groups. Women with vitamin D deficiency (severe and insufficiency) represented 85.9% of the study subjects. Multiple and logistic regression showed that age and BMI significantly affected BMD and vitamin D had a significant association with BMD only at the lumbar spine. BMI was positively correlated with BMD and PTH but negatively correlated with vitamin D. Logistic regression showed that the odds ratio (OR) for having osteoporosis decreased with increasing BMI (overweight OR = 0.11, p = 0.053; obese OR = 0.05, p = 0.007). Conclusions There was no direct correlation between BMD and PTH, bone turnover markers, and vitamin D except at the lumbar spine. A negative correlation between BMD and age and a positive correlation with BMI were observed. The protective effect of obesity on osteoporosis was complicated by the effect of obesity on vitamin D and PTH.