Clinico-Radiological Correlation in 26 Egyptian Children with Glutaric Acidemia Type 1.

BACKGROUND: Glutaric acidemia type 1 (GA1) is an inherited neurometabolic disease with significant morbidity. However, neuro-radiological correlation is not completely understood. OBJECTIVE: The study aimed to characterize the neuroimaging findings and their association with neurological phenotype in GA1 children. METHODS: Twenty-six Egyptian children (median age = 12 months) diagnosed with GA1 underwent clinical evaluation and brain magnetic resonance imaging (MRI). We objectively assessed the severity of neurological phenotype at the time of MRI using movement disorder (MD) and morbidity scores. Evaluation of brain MRI abnormalities followed a systematic and region-specific scoring approach. Brain MRI findings and scores were correlated with MD and morbidity scores, disease onset, and presence of seizures. RESULTS: Fifteen (57.7%) cases had insidious onset, eight (30.8%) manifested acute onset, whereas three (11.5%) were asymptomatic. Ten (38.5%) cases had seizures, five of which had no acute encephalopathic crisis. Putamen and caudate abnormalities (found in all acute onset, 93.3 and 73.3% of insidious onset, and one of three asymptomatic cases) were significantly related to MD (p = 0.007 and 0.013) and morbidity (p = 0.005 and 0.003) scores. Globus pallidus abnormalities (50% of acute onset, 46.7% of insidious onset, and one of three of asymptomatic cases) were significantly associated with morbidity score (p = 0.023). Other MRI brain abnormalities as well as gray and white matter score showed no significant association with neurological phenotype. Younger age at onset, acute onset, and seizures were significantly associated with worse neurological manifestations. CONCLUSION: Patients with GA1 manifest characteristic and region-specific brain MRI abnormalities, but only striatal affection appears to correlate with neurological phenotype.

Vitamin D Status in Egyptian Children With Allergic Rhinitis.

Objective: This study aimed to assess the serum levels of vitamin D in an Egyptian cohort of children with allergic rhinitis (AR) and to evaluate any correlation of vitamin D status with the disease severity. Patient and methods: One hundred twenty children with AR and 100 healthy children were included in our study. We studied the serum levels of vitamin D 25(OH)D and 1,25(OH)2D in all participants. The associations between vitamin D levels and clinical characteristics of AR were examined. Results: In AR group, the serum levels of calcium, (25(OH)D and 1,25(OH)2D levels were significantly lower (p < .0001, p < .001, and p < .0001, respectively) in AR children than in controls. Furthermore, the mean 25-OHD3 levels in patients with moderate/severe AR were significantly lower than those with mild AR (p < .001). We found significant negative correlations between mean 25(OH)D levels and total nasal symptom score (r = -.62, p = .002) and total immunoglobulin E levels (r = -.27, p = .013) in AR group. Conclusions: Vitamin D deficiency is a frequent finding among Egyptian children with AR when compared to the healthy group. A significant inverse association was observed between vitamin D levels and AR disease severity.

Down-regulation of Regulatory T-cells in Children With Gaucher Disease Under Enzyme Replacement Therapy.

Gaucher disease (GD) is one of the most important lysosomal storage disorders. T-lymphocytes perform and regulate many of the immune processes and play a major role in immune homeostasis. Studies have shown that GD causes impairment in T-lymphocyte functions, although the role and status of T-lymphocytes in GD are still under investigation. It is still not fully known how GD leads to the altered biochemical and immunological cellular functions observed in the disease. Our study aimed to evaluate the variations of regulatory T-lymphocytes (Tregs) in 20 Egyptian children with GD under enzyme replacement therapy, managed in Assiut University Hospitals. Tregs were detected using 3-color flow cytometric immunophenotyping, in which subpopulations of T-lymphocytes and the expression of CD4+ on their surfaces were gated. The expression of CD25+ was assessed on CD4+ cells with different gates to define CD4+CD25, CD4+CD25+high, and CD4+CD25+ low cells. Then, CD4+CD25+highFoxp3+cells and MFI of Foxp3+ expression on CD4+CD25+ high were determined. We found the levels of CD4+CD25+/CD4+, CD4+CD25+high/CD4+, CD4+CD25+highFoxp3+ Tregs, and median fluorescence intensity of Foxp3+ expression on CD4+CD25+high were significantly lower in children with GD compared to healthy controls. In conclusion, our data showed significantly decreased regulatory T-lymphocytes in children with GD. The reduced effect of Tregs may have a role in the pathogenesis of immune dysregulation in children with GD. The relationship of these cells to immune disorders in GD children remains to be determined. Therefore, we recommend further studies to elucidate the role and function of Tregs in GD and its potential role in the disease phenotype, as well as how it is affected by electrical resistivity tomography.

Prediction of HCV vertical transmission: what factors should be optimized using data mining computational analysis.

BACKGROUND & AIMS: Neonates born to hepatitis C virus (HCV)-positive mothers are usually not screened for HCV. Unscreened children may act as active sources for social HCV transmission, and factors contributing for vertical HCV transmitting still remained controversial and needed optimization. We aimed to investigate the factors contributing for vertical HCV transmission in Egypt; the highest HCV prevalence worldwide. METHODS: We prospectively followed the neonates born to HCV-positive mother in the child-bearing period, to identify mother-to-child transmission (MTCT) factors from January 2015 to March 2016. Data mining computational analysis was used to quantify the findings. RESULTS: Among 3000 randomized pregnant women, prevalence of HCV was 46/3000 (1.53%). HCV vertical transmission was identified in eight neonates (17.39%). Only high viral load identified at 975.000 IU was the predictor risk for MTCT. CONCLUSIONS: Hepatitis C virus in pregnancy has substantial risk for vertical HCV transmission: High viral load in HCV-positive women increases the risk of HCV transmission to neonates. Screening pregnant women during early stage of pregnancy and optimizing the HCV viral load in HCV-positive women might prevent vertical HCV transmission to neonates.