BACKGROUND AND PURPOSE: Biotin-responsive basal ganglia disease is an autosomal recessive neurometabolic disorder presenting with subacute encephalopathy that can cause death if left untreated. The purpose of this study is to assess the neuroimaging and clinical features of the disease before and after treatment with biotin.
BACKGROUND:Overweight/obesity is a multi-factorial problem, which results from rapidly changing social, economic, and physical environments that have led to an energy imbalance.AIM:To identify the association between childhood overweight/obesity and some socio-demographic risk factors, as parental age, body mass index (BMI), education and occupation, family size and residence (urban/rural).SUBJECTS AND METHODS:Cross-sectional study included 154 children of both sexes; aged 5-18 years; with their parents; one of them was working at the National Research Centre and from their relatives and neighbours. Data was collected about the child birth weight, family size, parental ages, education, occupation and place of residence. Anthropometric measurements including weight, height, and body mass index (BMI) of children and their parents were conducted.RESULTS:Obesity was detected among 19.5% of children (BMI > 95th percentile), 75.3% of their mothers and 49.6% of their fathers (BMI > 30 Kg/m^2). While overweight was present in 11.0% of the children (BMI > 85th- <95 percentile), 16.9% of their mothers and 36.5% of their fathers (BMI > 25-29.9 Kg/m^2). Child obesity was more prominent in urban than rural areas (21.3% versus 12.5%) and among housewives (22.8%) than among working mothers (16%, p < 0.016). Child overweight was more common in rural than urban areas (12.5% versus 10.7%) and among children with high father education (20%). Child BMI had significant positive correlations only with the child age, parental ages and BMIs, and family size. In spite of that, parental BMIs had significant positive correlations with each other and with family size, and significant negative correlations with maternal education and occupation and paternal education.CONCLUSION:Childhood obesity and overweight were more prominent in urban than rural areas, among children with non-working housewives mothers and highly educated fathers (college or above). Parental education and occupation had an indirect significant effect on child BMI through their significant effect on parental BMIs.
AA and AC showed an age-related distribution of their concentrations. This underlines the importance of using appropriate reference values when working with a prematurely born population.
Background:Accurate diagnosis of acute kidney injury (AKI) is problematic especially in critically-ill patients in whom renal function is in an unsteady state.Aim:Our aim was to evaluate the role of serum (S.) cystatin C as an early biomarker of AKI in critically-ill children.Subjects and Methods:S. creatinine and S. cystatin C were measured in 32 critically-ill children who were at risk for developing AKI. AKI was defined by both: Risk,-injury,-failure,-loss, and-endstage renal disease (RIFLE) classification and glomerular filtration rate (GFR) <80 ml/min/1.73 m2. GFR was estimated by both Schwartz formula and S. cystatin C-based equation.Results:S. cystatin C was not statistically higher in AKI patients compared with non-AKI by RIFLE classification (median 1.48 mg/l vs. 1.16 mg/l, P = 0.1) while S. creatinine was significantly higher (median 0.8 mg/dl vs. 0.4 mg/dl, P = 0.001). On estimating GFR by the two equations we found, a lag between rise of S. cystatin C and creatinine denoted by lower GFR by Schwartz formula in four patients, on other hand, six patients had elevated S. cystatin C with low GFR despite normal creatinine and GFR, denoting poor concordance between the two equations and the two markers. The ability of S. creatinine in predicting AKI was superior to S. cystatin with area under the curve (AUC) 0.95 with sensitivity and specificity (100% and 84.6%, respectively) using the RIFLE classification. The same findings were found when using Schwartz formula.Conclusion:S. cystatin C is a poor biomarker for diagnosing AKI in critically-ill children.
IntroductionA role for ficolin (FCN) 2 gene polymorphisms in the pathogenesis of recurrent severe streptococcal infections and rheumatic carditis has been suggested. The aim of the study was to evaluate a possible relationship between single nucleotide polymorphisms located at positions -602 and -4 of the FCN2 gene and FCN2 serum levels and risk of development of rheumatic fever (RF) and rheumatic heart disease (RHD).Material and methodsSeventy-seven Caucasian Egyptian patients with RF were recruited with a control group of 43 healthy subjects. DNA was extracted for analysis of the FCN2 gene at positions -602 and -4 and serum protein level was measured by ELISA.ResultsFCN2 AA genotype at the -4 position was more frequently observed in RF and RHD patients, as compared to healthy subjects (p = 0.005 and p = 0.013, respectively); furthermore, the A allele was identified as a possible risk factor for the development of RF (p = 0.023, OR = 1.852, 95% CI: 1.085–3.159). The haplotype –602/–4 G/A, which was associated with low median levels of L-ficolin, was observed more frequently in the RF group when compared to the healthy subjects (74/162, 48.1% vs. 29/420, 33.7%, OR = 1.834, 95% CI: 1.034–3.252, p = 0.038). Low serum ficolin-2 level was associated with ESV and EDV increases. FCN 2 level was significantly lower with AA genotypes than GG+AG genotypes of the -4 position (56.68 ±17.90 vs. 66.05 ±18.79, p = 0.008).ConclusionsPolymorphisms linked to low levels of L-ficolin may render an individual at risk of recurrent and/or severe streptococcal infection. The -4 AA genotype and -602/-4 G/A haplotype are possible risk factors for the development of carditis.
Background
Human bocavirus (HBoV) is globally distributed and associated with respiratory and enteric infections. Limited data are available about the incidence of HBoV in Egyptian children. We aimed to investigate the association of HBoV genotypes in children with diarrheal disease and also to determine the possibility of HBoV co-infections with other human enteric pathogens.
Methods
A total of 102 stool samples were collected from children under five years old with diarrhea. Samples were analyzed for the presence of HBoV by real-time PCR. HBoV positive samples were tested for adenovirus (AdV), rotavirus (RoV), parasitic helminths, and enteric protozoa.
Results
HBoV was detected in 58% of examined cases. HBoV-3 was the most prevalent genotype observed (44%; 45 of 102), followed by HBoV-2/4 (33%; 34 of 102) and HBoV-1 (30%; 31 of 102). Although the incidence of HBoV was higher in males (66.6%; 34 of 51) than females (49%; 25 of 51), the analysis showed no significant difference for HBoV between genders. The average HBoV concentrations were 5.3 × 104 GC/g in males and 1.03 × 105 GC/g in females. Among the HBoV-positive samples, the single infection of HBoV was 52.5% (31/59), while the co-infections with multiple viruses were found in 1.7% (1/59) for HBoV and AdV, 33.9% (20/59) for HBoV and RoV, and 11.9% (7/59) for HBoV, and RoV and AdV. No co-infection with parasitic helminths or enteric protozoa was found.
Conclusions
The single infection of HBoV in some children suffering from acute gastroenteritis indicated that HBoV could be the main etiologic agent of the disease. The study highlights the high incidence of HBoVs genotypes with remarkable multiple co-infections in the pre-school children in Egypt.
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