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1.
Egyptian Journal of Medical Human Genetics [The]. 2017; 18 (1): 67-73
em Inglês | IMEMR | ID: emr-189219

RESUMO

Background: Melanocortinergic system represents a known system involved in the central regulation of body weight with the central proopiomelanocortin [POMC] neurons forming a potent anorexigenic network. Polymorphisms in the POMC gene locus are associated with obesity phenotypes


Aim: To assess the contribution of the POMC gene 9-bp insertional polymorphism in the susceptibility to obesity and its relation to body mass index [BMI] and adiposity-related co-morbidities in obese children and adolescents; as well as binge eating behavior


Patients and methods: Fifty obese children and adolescents with simple obesity were screened for Binge Eating Disorder [BED] by The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition [DSM-5], they were compared to 50 age, sex and pubertal stage-matched non obese controls. Anthropometric measurements, blood pressure, abdominal ultrasound for fatty liver, measurement of fasting lipid profile, fasting insulin, fasting blood glucose and assessment of POMC gene 9-bp insertional polymorphism were done


Results: Obese patients had significantly higher anthropometric measurements, blood pressure percentiles, fasting glucose, fasting insulin, homeostasis model assessment for insulin resistance [HOMA-IR] and fasting lipid profiles, and higher frequency of occurrence of non alcoholic fatty liver disease and BED. Allelic frequencies of POMC gene 9 bp insertional polymorphism were comparable in patients and controls [p= 0.956]. Fasting insulin levels were significantly higher in the heterozygous cases having the polymorphism than in wild homozygous cases; whereas no difference was observed among the controls


Conclusion: This polymorphism was associated with higher fasting insulin levels in the obese patients only. These findings support the hypothesis that the melanocortin pathway may modulate glucose metabolism in obese subjects indicating a possible gene-environment interaction. POMC variant may be involved in the natural history of polygenic obesity, contributing to the link between type 2 diabetes and obesity


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Pró-Opiomelanocortina/genética , Polimorfismo Genético , Comportamento Alimentar , Índice de Massa Corporal , Adiposidade , Criança , Adolescente , Metabolismo , Estudos de Casos e Controles
2.
Egyptian Journal of Medical Human Genetics [The]. 2014; 15 (2): 149-154
em Inglês | IMEMR | ID: emr-154330

RESUMO

Obesity in childhood or adolescence could affect quality of life [QOL] There is little existing information about the health-related quality of life [HRQOL] of obese children and adolescents. To assess HRQOL and psychiatric co-morbidities in obese children and adolescents; and their relationship to body mass index [BMI]. Fifty obese children and adolescents were compared to 50 healthy age-, sex- and pubertal stage-matched non obese children and adolescents serving as controls. They were assessed by child self-report and parent proxy report using a pediatric HRQOL inventory scale, also, Children Anxiety Scale and Children Depression Inventory [CDI] were assessed. Obese children had total HRQOL score: 69.1 +/- 8.4 versus 81.1 +/- 7.8 respectively, p < 0.001 and their parents had total score: 62.9 +/- 9.5 versus 74.9 +/- 7.2 respectively, p < 0.001. Obese children reported lower health-related QOL scores in all domains than controls. BMI standard deviation score [SDS] correlated negatively with total score and all domains in child self report and parent proxy report. Anxiety [mild: 8%, moderate: 38%, severe: 54%] and depression [mild: 18%, moderate: 24%, severe: 58%] were pre-existing or diagnosed in all obese children with significant positive correlations between BMISDS and each of anxiety [r = 0.81, p < 0.01] and CDI scores [r = 0.78, p = 0.01]. BMI [OR: 5.72, 95%CI: 2.57-5.9] and waist circumference [OR:2.27, 95%CI: 1.99-5.31] SDSs were independent risk factors affecting the total QOL score Obese children and adolescents have lower health-related QOL that correlated negatively with BMI, also they are more susceptible to anxiety and depression symptoms than non obese children


Assuntos
Humanos , Masculino , Feminino , Índice de Massa Corporal , Qualidade de Vida , Criança
3.
Egyptian Journal of Medical Human Genetics [The]. 2014; 15 (2): 181-186
em Inglês | IMEMR | ID: emr-154334

RESUMO

The aetiology of autism is unclear and autistic symptoms had been attributed to an abnormal functional imbalance in neurotransmitter amines such as dopamine, noradrenaline and serotonin. To study plasma essential and non-essential amino acid levels, protein electrophoresis, serum ammonia, and urea in autistic children in comparison with controls. Twenty autistic children were compared to twenty healthy age and sex matched normal children serving as control, where serum amino acids, urea, ammonia and protein electrophoresis were estimated. As regards essential amino acid levels, autistic children had significant lower plasma levels of leucine, isoleucine, phenylalanine, methionine and cystine than controls [P < 0.05],while there was no statistical difference in the level of tryptophan, valine, threonine, arginine, lysine and histidine [P > 0.05]. In non-essential amino acid levels, phosphoserine was significantly raised in autistic children than in controls [.P < 0.05]. Autistic children had lower level of hydroxyproline, serine and tyrosine than controls [P < 0.05]. On the other hand there was no significant difference in levels of taurin, asparagine, alanine, citrulline, GABA, glycine, glutamic acid, and ornithine [P > 0.05]. There was no significant difference between cases and controls as regards the levels of urea, ammonia, total proteins, albumin and globulins [alpha 1, alpha 2, beta and gamma] [P > 0.05]. Autistic children had lower levels of some plasma amino acids except for glycine and glutamic acids and phosphoserine were increased with normal serum levels of urea, ammonia, total proteins, albumin and globulins [alpha 1, alpha 2, beta and gamma]


Assuntos
Humanos , Masculino , Feminino , Criança , /sangue , Ureia/sangue , Amônia/sangue , Cromatografia Líquida de Alta Pressão
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