Bone Mineral Density and Vitamin D Receptor Genetic Variants in Egyptian Children with Beta Thalassemia Major on Vitamin D Supplementation.

BACKGROUND: Low bone mineral density (BMD) is a characteristic feature of Beta thalassemia major (ßTM) patients. Vitamin D is important for bone mineralization. Vitamin D receptors (VDR) genetic variants may be related to vitamin D status and BMD. OBJECTIVES: To evaluate the effect of VDR genetic variants on vitamin D levels and BMD in ßTM Egyptian patients supplemented with vitamin D. METHODS: This study was conducted on forty children with ßTM and seventeen unrelated healthy sex and age-matched controls. Serum calcium, phosphorus, alkaline phosphatase, ferritin, and vitamin D were measured. VDR genetic variants (BsmI, TaqI, and FokI) were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). BMD was measured by dual-energy X-ray densitometry (DEXA) of the lumbar spine. RESULTS: In ßTM patients, 22.5% had insufficient, and 77.5% had sufficient levels of vitamin D, and no cases had vitamin D deficient. BMD Z score was significantly lower in ßTM patients compared to controls (p<0.001). Osteopenia and osteoporosis of lumbar spines were observed in 70% and 22.5% of ßTM patients respectively. BsmI bb and FokI Ff and ff genotypic variants were significantly associated with lower vitamin D and BMD Z score. No association was observed with TaqI genotypic variants. CONCLUSIONS: Low BMD is prevalent in patients with ßTM despite vitamin D supplementation. The BsmI bb, FokI Ff and ff genotypic variants of VDR can be considered as risk factors for the occurrence of osteoporosis in these children.

Evaluation of Interleukin-9 Expression as a Potential Therapeutic Target in Chronic Lymphocytic Leukemia in a Cohort of Egyptian Patients.

Chronic lymphocytic leukemia (CLL) is a common lymphoid malignancy that has a highly variable clinical course. Genomic features as zeta-chain-associated protein kinase 70 (ZAP70) expression and CD38 expression provide further differentiation of disease prognosis. Extensive studies have confirmed the oncogenic activities of IL-9 in lymphoma. The aim of the current study was to investigate the contribution of IL-9 expression to the pathogenesis of CLL and its correlation to other prognostic parameters. This study was conducted on 80 patients at diagnosis with CLL and 80 healthy controls. Using real time polymerase chain reaction and enzyme linked immunosorbant assay, IL-9 mRNA expression and its serum level were compared between patients and controls. They were both correlated with other prognostic factors. RESULTS: There was an overexpression of IL-9 in CLL patients that correlated with modified Rai staging, ZAP70, CD38 and all hallmarks of an active and aggressive disease. The correlation between IL-9 upregulation and patient characteristics provided direct clinical evidence for its contribution to the pathogenesis of CLL. In conclusion, significantly higher expression of IL-9 measured at both the mRNA and the protein levels in patients with CLL that correlates with more complex course of the disease and worse prognosis may allow one to speculate its importance in the pathogenesis of the disease and its possible impact on prognosis.