The health-related quality of life in normal and obese children

AbstractBackgroundOverweight and obesity have a major impact on the quality of life (QOL) in different patterns and magnitudes.ObjectiveTo assess the effect of obesity on the quality of life in children.Patients and methodsThe study was carried out on 111 children aged from six to twelve years in National Nutrition Institute. They were divided according to age into two groups; group I for children ⩽8years (n=42) and group II for children >8years (n=69). Only obese children of nutritional cause of obesity were included in this study. The data were collected by different tools, questionnaire and clinical Assessment.ResultsResults showed that; in group I (⩽8years); 20 children were of normalweight (47.6%) and 22 were obese (52.4%), while in group II (>8years old); 29 of them were of normal weight (42.0%) and 40 were obese (58.0%). The Mean±SD of body mass index (BMI), height and weight in normal and obese children were significantly different. The socioeconomic class relation between normal and obese children was significantly different. The total quality of life score was ⩾75 (very good QoL) in 95.0% and 82.8% of normal weight children, while the percentage was only 4.5% and 5.0% in obese children (⩽8years and >8years, respectively). On the other hand, the total score was ⩽25% (bad QoL Life) in only 0.0% and 6.9% of normal weight children, while it was 31.8% and 17.5% in obese children (⩽8years and >8years, respectively).There was a negative correlation relationship between total quality of life scores and BMI, waist circumference, weight and a positive correlation relationship between quality of life scores and father’s and mother’s education and father’s occupation.ConclusionObesity in children had a negative impact on their quality of life

Allgrove syndrome: an Egyptian family with two affected siblings

Background: Allgrove or AAA (Triple A) syndrome is a rare autosomal recessive disease characterized by achalasia, alacrima, adrenocorticotrophic insufficiency and some neurologic abnormalities. Case report: Here we report two brothers 13 and 15 years old, with variable features of the syndrome, with prominent neurological symptoms which started in the first decade and, led to motor paralysis and severe muscle wasting in the elderly brother in the second decade of life. Moderate achalasia developed at 9 years in the older brother and showed a slowly progressive course with development of chest pain and dysphagia. Alacrima was not evident before the age of 12 years. The neurological symptoms were less severe in the younger brother. He suffered alacrima that started at age of 11 years and mild dysphagia due to achalasia at age of 12 years, both being slowly progressive. This paper highlights early features of this syndrome among Egyptian population and the importance to exclude Allgrove syndrome in the presence of progressive neurological dysfunction. To conclude: Allgrove syndrome should be suspected in patients with neurological impairment associated with any of the main symptoms of the syndrome (alacrima, achalasia and adrenal insufficiency)

A study of blood serotonin and serotonin transporter promoter variant (5-HTTLPR) polymorphism in Egyptian autistic children

Background: Autism spectrum disorder (ASD) is a complex, heterogeneous neurodevelopmental disorder with onset during early childhood. Most studies have reported an elevation in platelet serotonin in persons with autism. The serotonin (5-hydroxytryptamine; 5-HT) transporter in the brain uptakes 5-HT from extracellular spaces. It is also present in platelets, where it takes up 5-HT from plasma. Polymorphisms in serotonin transporter gene (SLC6A4) were frequently studied in many neuropsychiatric disorders. Materials and Methods: We have measured the plasma 5-HT levels in 20 autistic male children and 20 control male children by the enzyme-linked immunosorbent assay (ELISA) method. In addition, the SLC6A4 promoter region (5-HTTLPR) insertion/deletion (I/D) polymorphism was studied, using whole genomic DNA. Results: Plasma serotonin was significantly low in autistic children compared to control (P = 0.001), although correlation to severity of autism was not significant. The frequency of short (S) allele in autism cases was 10% and in the control group it was absent. Conclusion: Our study demonstrated an increased prevalence of 5-HTTLPR S allele in autism subjects. Significantly decreased plasma serotonin was detected in autism subjects, with no significant relationship between 5-HTTLPR genotype and plasma 5-HT being evident

HFE H63D, C282Y and AGTR1 A1166C polymorphisms and brain white matter lesions in the aging brain

Incidental white matter lesions (WML) are a common neuroradiological finding in elderly people and have been linked to dementia and depression. Various mechanisms including hypoxia and increased production of reactive oxygen species (ROS) are implicated in the etiology of WML. The hemochromatosis (HFE) gene p.H63D and p.C282Y polymorphisms have been linked to dysregulation of iron metabolism and increased levels of ROS, whereas Angiotensin II receptor 1 (AGTR1) c.1166A → C polymorphism is known as a vascular risk factor. These genetic polymorphisms were characterized in brains donated to the UK MRC Cognitive Function and Ageing Study (CFAS) to assess their potential role in the risk for development of age-related WML. The study cohort comprised 258 brain donated to CFAS. WML severity was assessed in the postmortem brain donations using magnetic resonance imaging (MRI) scans and scored using the Scheltens' scale. Polymerase chain reaction (PCR) amplification of extracted DNA followed by restriction enzyme digestion was used to genotype the samples. Genotypes were validated using direct sequencing in a smaller sample. The results show that HFE p.H63D polymorphism is not associated with WML severity in the whole cohort. However, there is a significant association of the D allele with severity of WML in noncarriers of the APOE ε4 allele. No association is demonstrated between the HFE p.C282Y nor the AGTR1 c.1166A → C polymorphisms and WML severity. The HFE gene appears to be a genetic risk factor for severe aging WML independently of the APOE ε4 genotype. This would support the role of iron-related oxidative stress, in addition to previously studied factors, e.g., hypoxia as potential risk factors for developing prominent aging WML

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

Manganese (Mn) and zinc (Zn) are essential divalent cations used by cells as protein cofactors; various human studies and animal models have demonstrated the importance of Mn and Zn for development. Here we describe an autosomal-recessive disorder in six individuals from the Hutterite community and in an unrelated Egyptian sibpair; the disorder is characterized by intellectual disability, developmental delay, hypotonia, strabismus, cerebellar atrophy, and variable short stature. Exome sequencing in one affected Hutterite individual and the Egyptian family identified the same homozygous variant, c.112G>C (p.Gly38Arg), affecting a conserved residue of SLC39A8. The affected Hutterite and Egyptian individuals did not share an extended common haplotype, suggesting that the mutation arose independently. SLC39A8 is a member of the solute carrier gene family known to import Mn, Zn, and other divalent cations across the plasma membrane. Evaluation of these two metal ions in the affected individuals revealed variably low levels of Mn and Zn in blood and elevated levels in urine, indicating renal wasting. Our findings identify a human Mn and Zn transporter deficiency syndrome linked to SLC39A8, providing insight into the roles of Mn and Zn homeostasis in human health and development