BACKGROUNDGlucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked disorder which causes neonatal jaundice in most cases, and under certain conditions, can cause a spectrum of hemolytic manifestations.OBJECTIVETo determine the local prevalence of G6PD deficiency in newborns.DESIGNCross-sectional.SETTINGUniversity hospital.METHODSInfants born during 2015 were prospectively screened for G6PD deficiency. Dried blood spot samples on filter paper were collected in collaboration with the central laboratories of the Ministry of Health. Quantitative measurement of G6PD enzyme activity was measured from the blood samples using fluorometric analysis. A value ≤1.3 U/g hemoglobin (Hb) was considered G6PD deficient.MAIN OUTCOME MEASURE(S)G6PD enzyme activity (U/g Hb).RESULTSOf 2782 screened newborns (1453 males and 1329 females), 2646 (95.1%) newborns were normal, 17 (0.6%) exhibited intermediate deficiency; 119 newborns (91 male newborns; 28 female newborns) were deficient for G6PD for an overall prevalence of G6PD deficiency of 4.3% with a male:female ratio of 3.2:1. Enzyme activity was significantly higher in males than females (P<.014).CONCLUSIONThe overall prevalence of G6PD deficiency emphasizes the importance of neonatal screening for early detection and prevention together with proper intervention and genetic counseling.LIMITATIONLacked authority to collect the samples for testing directly from the local centers.

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The use of of parent-completed ASQs showed an overall prevalence of developmental delay in children aged 24-60 months of3.4%. Male gender, consanguinity and parental education were identified as risk factors for developmental delay. Family counselling about the child's developmental state is needed.

BackgroundPuberty is the period of human growth and development. To determine the onset of puberty with regards to the effect of higher adiposity, together with growth parameters of the participants at various stages of sexual maturity for both sexes.MethodsThe study was conducted on 1944 children (8–16) years; 1022 girls (52.6%) and 922 boys (47.4%) were taken at random. Pubertal assessment was done using Tanner staging that assigned breast development in females and pubic and axillary hair in males and females. Testicular volume was recorded using a Prader orchidometer. Height, weight, body mass index (BMI), body mass (BM) fat, body fat percentage, through applying a body impedance analyzer, and others were recorded.ResultsThe mean ages at the onset of puberty for females and males in our study were 10.29 ± 1.1 and 11.34 ± 1.02 years, respectively. Pubic hair (stage PH2) was attained at mean age of 10.72 ± 0.84 and 11.98 ± 1.03 years for females and males, respectively. For axillary hair (stage AH2), the mean age was 12.47 ± 0.68 years for females and 13.8 ± 0.58 years for males. The mean age at menarche was 12.41 ± 0.65 years. In concordance to BM fat and percentage, all pubertal stages started earlier in females with BMI ≥85th percentile comparable to females within average BMI. As for males, no significant relation was noted between mean pubertal ages and BMI values.ConclusionsA significant association of mean ages of Tanner stages to excess weight especially in females warranted the increasing awareness about health care, nutritional aspects, and living circumstances.

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Objective:Oxidative stress plays an important role in the pathogenesis of type 1 diabetes mellitus (T1DM). To evaluate the association of glutathione S-transferase mu 1 (GST M1) and glutathione S-transferase theta 1 (GST T1) polymorphisms with development of T1DM and disease-related risk factors.Methods:Measurement of fasting glucose, serum creatinine, lipid profile, and glycosylated hemoglobin (HbA1c), as well as evaluation of GST T1 and M1 genetic polymorphisms using polymerase chain reaction were done in 64 diabetic children and 41 controls.Results:The diabetic group had significantly higher fasting glucose, HbA1c, and cholesterol levels. GST T1 null genotype was more frequent in the diabetic than the control group with 4.2-fold increased risk of T1DM (odds ratio=4.2; 95% confidence interval=1.6-11.5; p=0.03). Significant positive associations were found with lipid profile, HbA1c, and duration of illness but not with age, age at onset, and body mass index.Conclusion:Gene polymorphisms of the enzyme GST are associated with development of T1DM and disease-related risk factors.

Background: Genetic variations of the FTO gene were associated with obesity and type 2 diabetes determinants in the European population, notably raised blood levels of insulin and glucose. Objective: The aim of this study was to test the association of FTOrs17817449 with obesity/BMI and type 2 diabetes risk among obese Egyptian population. Materials and Methods: In this case-control study, (PCR-RFLP assay) was used for genotyping FTOrs17817449polymorphism (SNP) in 120 obese children and 120 controls conducted from attendants of genetic & endocrinology Unit and outpatient clinics, Pediatric Department, Faculty of Medicine, Menoufia University Hospitals. In combination with anthropometric measurements of obesity, predisposition to T2D risk was analyzed (fasting insulin, fasting glucose, insulin resistance). Results: Consanguinity was evident in 32.5% of cases. Positive family history of both obesity and T2D was found to be significant statistically (p<0.05). FTO rs17817449G allele was positively associated with WC (Waist Circumference) (Mean ± SD 84.1 ± 9. 3), raised BMI (Body Mass Index) (32.7 ± 3.5), fasting glucose (114.1 ± 12.8mg/dl), fasting insulin (7.2 ± 1.2µU/ml) and insulin resistance (61.1% of cases) (p<0.001). : The odds ratio of obesity was 1.75(95%CI 1.02-3.02) for GT and GG genotype. Fasting glucose and fasting insulin showed statistically significant risk for T2D in the obese group. Conclusion: Genetic variation in FTOrs17817449(G allele) was definitely associated with raised BMI, BMI z-score and fasting insulin, and lowered QUICKI values, that predicted the risk for type 2 diabetes among obese children harboring the mutant G allele.

Objective:Neuron-specific enolase (NSE) and S100 calcium-binding protein B (S100B) are markers of different neurological disorders. The aim was to investigate the relationship between NSE and S100B serum concentrations and the severity of diabetic ketoacidosis (DKA) in diabetic children.Methods:Eighty children with DKA, 40 with type 1 diabetes mellitus (T1DM) without DKA and 40 healthy controls were enrolled. Severity of DKA was assessed according to blood pH and bicarbonate concentration. Serum NSE and S100B were measured in all participants. In the DKA group serum NSE and S100B were measured at three time points, at admission and at 12 hours and 24 hours after starting treatment.Results:Children with DKA showed significantly higher serum levels of NSE at all time points compared to children with T1DM without DKA and controls (p<0.01), while serum S100B concentrations did not differ between the three cohorts. Children with T1DM but without DKA also had significantly higher serum levels of NSE (p<0.01) compared to healthy controls. Patients with low Glasgow Coma Scale score (GCSS) and those with moderate and severe DKA had significantly higher levels of NSE at all time points (p<0.01 for each) compared to patients with normal GCSS and those with mild DKA. No significant differences were found in serum S100B levels according to the severity of DKA and GCS (p>0.05). Younger age, lower GCSS, higher glucose and HbA1c, lower pH and lower serum bicarbonate were the risk factors associated with elevated NSE.Conclusion:Serum NSE is elevated in all patients with type 1 DM and, in patients with DKA, correlates with severity of DKA. However, serum S100B concentration did not differ between T1DM with or without DKA and healthy controls.