The C588 T polymorphism of GABARG2 is associated with an increased risk of developing childhood IGE and may modulate patients' response to antiepileptic drugs.

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.

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.

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Background Type 1 diabetes mellitus (T1D) results from environmental and genetic factors. We aimed to investigate the distribution of PTPN22, IL2RA rs11594656, and rs2104286 variants and its association with T1D in children. A case-control study conducted on 100 diabetic patients and 100 control children. PTPN22 gene, IL2RA rs11594656, and rs2104286 polymorphisms study were done by PCR followed by restriction fragment length polymorphism (RFLP) assay. Results T allele of PTPN22 gene was presented more frequently 47% in patient group versus 30% in controls, while C allele was 53% in the diabetic group versus 70% in controls showing a statistically significant difference between patient and control groups. Similarly, TT 1858 genotype was found in higher frequency with a statistically significant difference in favor of T1D patients (p = 0.038), OR (CI 95% 3.16 (1.28–7.09). For IL2RA rs11594656 polymorphism, the frequency of TT, TA, and AA in patients at percentages of 20%, 60%, and 20% versus 4%, 60%, and 36% in controls respectively showed significant difference (p = 0.045). Also, T allele was detected more in patients group as evidenced by p = 0.059, OR (95% CI) of 2.38(1.49–6.12). Whereas, IL2RA rs2104286 polymorphism revealed a difference of otherwise non-statistical significance (p = 0.091). Those who harbored homozygous pattern of both IL2RA polymorphisms frequently had DKA and high mean HbA1C values. Conclusion PTPN22 (C1858T) and IL2RA rs11594656 polymorphisms increased the risk of T1DM development, while IL2RA rs2104286 polymorphism did not display any significant association among children with T1D. Having more than one risk allele could affect progression and control of T1D.

Rehabilitation of the family of DS child to provide long-standing follow-up and support as well as the early detection of different health problems. A prospective observational study was accomplished on 65 children with DS selected randomly from the outpatient clinic of pediatric genetics. Application of Health Supervision Guidelines for Individuals with DS for specialized management and monitoring based on different of age groups. Also, the parents of DS children underwent scheduled training plan for solving their children difficulties as hypotonia and associated problem as feeding problem, cervical spine problem and hip dislocation by doing prefeeding exercises and some home physiotherapy in weekly visits. Then these children were evaluated at the end of every four months to assess outcome and retraining of the caregivers as needed. The prevalence of the most associated health problem with DS was the speech difficulty followed by iron deficiency anemia, medically treated ear problems , physical disability , urinary and bowel incontinence ,feeding problems, hypothyroidism and bilateral SNHL (72%, 64.6% , 35%, 33%, 29.2%, 24.6%, 16.9%, 10.7% respectively). After application of our scheduled training program, 84% of trained parents carried out prefeeding exercises, 86% of children showed adequate positioning during feeding as well as improved child cooperation during feeding. Furthermore, 84% got balanced nutritious diet. 68% of children developed urinary control by daytime whereas 60% developed urinary control by day and night. 81% showed improvement in bowel control by decreased frequency of encopresis. An effective early intervention, positive home environment and continuous supportive training of mothers of children with DS are helpful in improving the overall functioning and productivity of these children.

Objectives To provide normal reference data and identify growth patterns for craniofacial dimensions of a mid-face zone in healthy preschool Egyptian children. Background Anthropometry is the biological science that provides objective data to the craniofacial morphology evaluation, through a series of head and face measurements by using simple, noninvasive, low-risk, and inexpensive techniques. Methods The study was conducted on 3080 randomly selected healthy preschool boys and girls enrolled with criteria favoring good general health state and absence of any systemic disorders or long-term therapies. All children were subjected to detailed medical history, anthropometric measurements, head measurement (head circumference, head length, and width), and midface zone including eye measurements (inner canthal, outer canthal, inter-pupillary distance, and palpebral fissure length), nasal measurements (length, width, protrusion, columella length, and width), and ear measurements (length, width, projection, ear position, and rotation), with emphasis on the head should be erect (in the resting position) and both eyes facing forward. Results Upon plotting general measurements, head measurements, and specific measures of eye, nose, and ear on Z-score charts, it was shown that no significant difference was detected for the studied mid-face dimensions in both sexes with 0.6–1% low set ear setting which may be of a familial pattern. Egyptian facial morphology shows no similarities to Afro-Americans, but resembles those of Iranians with observed disagreeable ear features in comparison to Turkish children. Conclusion This study presents first referenced national Z-score curves that were accomplished to describe the growth pattern of mid-face proportions for Egyptian preschool healthy children.