Vitamin D is critical for calcium, phosphate homeostasis and for mineralization of the skeleton, especially during periods of rapid growth. Vitamin D Deficiency leads to rickets (in children) and osteomalacia (in adults). Expression and activation of the vitamin D receptor (VDR) are necessary for the effects of vitamin D, in which several single nucleotide polymorphisms have been identified especially (FokI, BsmI). In this study serum 25 (OH) vitamin D3 levels were estimated by Enzyme Linked Immunosorbent Assay [ELISA], VDR (FokI, BsmI) gene polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism assay [PCR-RFLP].Serum levels of calcium, phosphorus, alkaline phosphatase and ferritin were determined in 50 Pediatrics beta thalassemia major patients and 60 controls. Patients had significantly lower serum calcium (p < 0.001) lower serum vitamin D3 (p < 0.001) with elevated levels of phosphorus (p < 0.001) and alkaline phosphatase than controls (p = 0.04). Of the patients studied, 60 % had vitamin D deficiency (<20 ng/ml), 20 % had vitamin D insufficiency (21-30 ng/ml) and 20 % had sufficient vitamin D status (>30 ng/ml). Patients harboring mutant (Ff,ff) and wild (BB) genotypes were associated with lower serum calcium (p = 0.08, 0.02) respectively, lower vitamin D3 levels (p < 0.001, 0.01) respectively. They were also suffering from more bony complications although the difference was not statistically significant (p > 0.05). In conclusion, these results suggest that the VDR (FokI, BsmI) gene polymorphisms influence vitamin D status, (Ff,ff), BB genotypes had lower vitamin D levels, so they might influence risk of development of bone diseases in beta thalassemia major.

The risk of developing ITP was not related to the studied polymorphism.

Randomized controlled trial of effect of N-acetylcysteine as an antioxidant on iron overload in children with thalassemia major

BACKGROUND:Acute lymphocytic leukemia (ALL) is the most common hematologic malignancy in children. In young children it is also largely curable, with more than 90% of afflicted children achieving long-term remission. PRAME (Preferentially expressed antigen of melanoma) gene belongs to Group 3 class I HLA-restricted widely expressed antigens in which genes encoding widely expressed tumor antigens have been detected in many normal tissues as well as in histologically different types of tumors with no preferential expression on a certain type of cancer. It has been found to be expressed in a variety of cancer cells as leukemia & lymphoma. PRAME monitoring can be useful for detection of minimal residual disease and subsequent relapses particularly those leukemias in which specific tumor markers are unavailable. Wilms’ tumor1 (WT1) gene was identified as a gene that plays an important role in normal kidney development and inactivation of its function was shown to result in the development of Wilms’ tumors in paediatric patients. Disruption of WT1 function has been implicated in the formation of many different tumor types.AIM:to study how PRAME & WT 1 genes expression patterns influence cancer susceptibility & prognosis.PATIENTS & METHODS:50 patients with denovo childhood acute lymphoblastic leukemia, as well as 50 age and sex matched apparently healthy volunteers were genotyped for PRAME and WT1 genes expression by reverse transcription polymerase chain reaction (RT-PCR).RESULTS:PRAME gene was expressed in 34 of the patients (68%) and WT1 gene was expressed in 26 of the patients (52%). Expression of both genes was significantly higher compared to controls (P < 0.0001). Analysis of relapse free survival among our patients revealed that patients expressing PRAME gene or WT1 gene had better relapse free survival (p value=0.02 and 0.01 respectively). Relapse free survival increased significantly among patients coexpressing PRAME and WT 1(p value =0.001).CONCLUSION:It is concluded that the expression of PRAME and WT1 genes are indicators of favorable prognosis and can be useful tools for monitoring minimal residual disease (MRD) in acute leukemia especially in patients without known genetic markers. Differential expression between acute leukemia patients and healthy volunteers suggests that the immunogenic antigens (PRAME and WT1) are potential candidates for immunotherapy in childhood acute leukemia.

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IntroductionBronchial asthma is a chronic inflammatory disease. Interleukin 18 (IL-18) single nucleotide polymorphisms (SNPs) can influence IL-18 production and activity. IL-18-607C/A and -137 C/G are two of the commonly studied SNPs of IL-18 due to their role in the etiopathogenesis of allergic diseases.Aim of the studyThe case control study was conducted to investigate the genetic association between IL-18-607C/A polymorphism and pediatric asthma. Also attempts were made to evaluate the prognostic effect of -607C/A SNP with disease severity and total serum IgE.Material and methodsThe case control study was conducted on 60 asthmatic children and 40 healthy subjects; aged 2 to 12 years. PCR-RFLP was used to detect IL-18-607C/A SNP and total serum IgE level was detected using ELISA technique.ResultsRegarding IL-18-607C/A SNP, the frequency of the A allele and CA genotype was significantly higher in asthmatic children compared to healthy control subjects (p < 0.001). Further on, asthmatic children carrying the AA/AC genotype of -607C/A SNP were associated with an increased risk of occurrence of asthma (OR = 6.417; CI = 2.432-17.289). IgE was higher in asthmatic patients carrying the heterozygous CA genotype compared to patients carrying the AA and CC genotypes (p = 0.054).ConclusionThe frequency of the heterozygous CA genotype and A allele in IL-18-607C/A SNP was higher in asthmatic children. There is no association between the severity of asthma and -607C/A SNP. Total IgE was higher in patients carrying the CA genotypes compared to patients carrying the AA and CC genotypes, respectively.

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