Farida El-Baz

Effect of Desferrioxamine B on Hemolysis in Glucose-6-Phosphate Dehydrogenase Deficiency

Twenty-four infants and children suffering from glucose-6-phosphate dehydrogenase (G6PD) deficiency during hemolytic crisis were included in this study. Their ages ranged between 3 and 36 months with a median of 10 months. 22 were males and 2 were females. Fourteen out of them received a single bolus dose of desferrioxamine B 500 mg intravenously followed by packed red cell transfusion, while the remaining 10 cases were only transfused. Sequential estimation of hemoglobin level, reticulocytic count and hemoglobinuria was done before treatment, 3, 24, 48 and 72 h thereafter. The hemoglobin level was higher in the desferrioxamine B group. The degree of increase was statistically significant at 48 and 72 h (p less than 0.01). Hemoglobinuria stopped in 78.5% in the first group and only in 30% of the second group at 72 h. It was concluded that desferrioxamine B is helpful in shortening the course of hemolytic crisis in G6PD-deficient patients. It could be used as an adjuvant to packed red cell transfusion.

Study of the C677T and 1298AC polymorphic genotypes of MTHFR Gene in autism spectrum disorder

Background Autism is currently known as “a behaviorally defined syndrome” manifested as impairment in social communication, repetitive routines and restricted interests. There is an increased risk of ASDs associated with common mutations affecting the folate/methylation cycle. Aim The aim of this study was to identify C677T and 1298AC polymorphic genotypes of MTHFR gene among a sample of Egyptian children with autism and to make a phenotype-genotype correlation for the autistic patients. Methods This case-control study was carried out from 2013 through 2015. The study included 31 children with autism and 39 children in a normal control group, the mean age of patients and control was comparable (4.5 years± 2) with males predominant in both groups. We used DSM-V-TR criteria, Stanford-Binet intelligence scale V and childhood autism rating scale (CARS) for assessments. Genotyping for MTHFR gene polymorphic loci C677T and 1298AC was performed on amplified DNA by PCR with subsequent reverse hybridization and restriction fragment length polymorphisms analysis. Data were analyzed by SPSS version 11, using Chi-Square, independent-samples t-test, and ANOVA. Results There was significant relationship between low birth weight and occurrence of autism (p<0.01), and between delayed motor and social milestones in cases of autism compared to controls (p<0.01). Heterozygosity for A1298C polymorphism was highest among patients (41.9%) followed by 35.5% mutant genotype CC and 22.6% normal AA (wild) type and Allele C was detected in patients more than in control (56.45% vs. 11.54%) (p<0.001). For C667T polymorphism, heterozygosity was also highest among patients (48.4%) followed by wild type genotypes C677 (38.7%) and 12.9% for mutant genotypes 667T. Allele T appeared more in patients than control (31.10 %vs. 5.13%) (p<0.00). Heterozygosity for CT and A–C genotypes were detected equally (46.2%) among patients with severe autism (according to CARS). Conclusion There is a significant association between severity and occurrence of autism with MTHFR gene polymorphisms C677T and A1298C. Further studies are needed on a larger scale to explore other genes polymorphisms that may be associated with autism, to correlate the genetic basis of autism.

Assessment of glucokinase regulatory protein rs1260326 gene variant polymorphism in the development of nonalcoholic fatty liver disease among Egyptian obese children

Background Several gene variants have been identified so far by genome-wide association studies or by a candidate gene approach to be associated with fatty liver disease. Aim The aim of the present study was to assess the prevalence of rs 1260326 of the glucokinase regulatory protein (GCKR) gene in nonalcoholic fatty liver disease (NAFLD) and nonalcoholic steatohepatitis among a sample of obese Egyptian children. Patients and methods This study included 100 obese children followed-up at the obesity clinic of Ain Shams University Children’s Hospital and 50 healthy, nonobese children. Study candidates were further subclassified into three groups: group I – 50 obese children with ‘no hepatomegaly’ and normal liver enzymes; group II – 30 obese children with ‘hepatomegaly’ and normal liver enzymes; group III – 20 obese children with ‘hepatomegaly and elevated liver enzymes’ (nonalcoholic steatohepatitis); and group IV – 50 healthy, nonobese children matched for age and sex as a control group only for the genetic study. Epidemiological, clinical, and laboratory data were collected from the medical records of the first three groups. The GCKR gene variant rs1260326 was studied in patients with NAFLD (groups II and III) and the control group (group IV). Results NAFLD patients (groups II and III) included 29 males and 21 females with a mean age of 8.5±4.4 years and mean duration of obesity of 4.2±2 years. There was a highly significant statistical difference between groups II, III, and I regarding duration of obesity, weight, BMI, hip circumference, waist circumference, and lipid profile. The most prevalent GCKR genotype among NAFLD was CC (52%), whereas controls showed more heterozygosity for the CT allele. The most frequently segregated allele among patients was C (69%) followed by T (31%). Conclusion The most prevalent polymorphic genotype of rs 1260326 within the GCKR among Egyptian obese children with NAFLD was CC, and the most prevalent allele among them was the C allele.