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1.
Diabetes Metab Syndr ; 15(5): 102258, 2021.
Article in English | MEDLINE | ID: mdl-34509791

ABSTRACT

AIMS: Several microRNAs (miRNAs) are involved in regulating the process of adipogenesis. White adipose tissue is a major source for these miRNAs. We aimed to evaluate the expression of miR-486-5p in children with obesity and its possible association with nonalcoholic fatty liver disease (NAFLD). METHOD: This case-control study included 100 obese and overweight children and 100 normal-weight children of matched age and sex. All children were subjected to anthropometric measurements and evaluation of miR-486-5p expression levels using the SYBR green-based real-time RT-PCR technique. RESULTS: Obese children showed significantly up-regulated miR-486-5p gene expression (p value < 0.001) when compared to control group. MiR-486-5p gene expression showed significant positive correlation with weight (r = 0.924), BMI (r = 0.497), waist circumference (r = 0.387), fat mass (r = 0.361), LDL(r = 0.351), TG (r = 0.867), TC (r = 0.875) and presence of fatty liver (r = 0.760). The best cutoff value of miR-486-5p gene expression in the prediction of obesity was 0.44 with AUC 0.736 that has a sensitivity 60% and specificity 90%, CONCLUSION: The serum level of the miR-486-5p gene is up-regulated in obese and overweight children and might be an independent predictor for obesity and fatty liver susceptibility.


Subject(s)
Biomarkers/blood , MicroRNAs/genetics , Non-alcoholic Fatty Liver Disease/diagnosis , Pediatric Obesity/physiopathology , Case-Control Studies , Child , Egypt/epidemiology , Female , Follow-Up Studies , Humans , Male , MicroRNAs/blood , Non-alcoholic Fatty Liver Disease/blood , Non-alcoholic Fatty Liver Disease/epidemiology , Non-alcoholic Fatty Liver Disease/genetics , Prognosis
2.
Mol Genet Genomic Med ; 7(5): e612, 2019 05.
Article in English | MEDLINE | ID: mdl-30834692

ABSTRACT

BACKGROUND: Several genes encoding transcription factors are known to be the primary cause of congenital heart disease. NKX2-5 and GATA4 were the first congenital heart disease-causing genes identified by linkage analysis. This study designed to study the association of five single-nucleotide variants of NKX2-5, GATA4, and TBX5 genes with sporadic nonsyndromic cases of a congenital cardiac septal defect in Egyptian children. METHODS: Venous blood samples from 150 congenital heart disease children (including a ventricular septal defect, atrial septal defect, tetralogy of Fallot, and patent ductus arteriosus) and 90 apparently healthy of matched age and sex were studied by polymerase chain reaction followed by direct sequencing in order to study two single-nucleotide variants of NKX2-5 (rs2277923, rs28936670), two single-nucleotide variants of GATA4 (rs368418329, rs56166237) and one single-nucleotide variant TBX5 (rs6489957). The distribution of genotype and allele frequency in the congenital heart diseases (CHD) group and control group were analyzed. RESULTS: We found different genotype frequencies of the two variants of NKX2-5, as CT genotype of rs2277923 was present in 58% and 36% in cases and control respectively, and TT genotype present in 6% of the cases. Also regarding missense variant rs28936670, heterozygous AG presented in 82% of the cases. Also, we observed a five prime UTR variant rs368418329, GT (42% of the cases) and GG (46% of the cases) genotypes showed the most frequent presentation in cases. While regarding a synonymous variant rs56166237, GT and GG were the most presented in cases (41.4%, 56% respectively) in contrast to control group (20%, 1.7% respectively). Also, a synonymous variant in TBX5, the distribution of genotype frequency was significantly different between the CHD group and control group. CT genotype of TBX5 -rs6489957 was found in 12 ASD, 24 VSD, six PDA, three aortic coarctation and nine fallot that represent 42% of the cases. CONCLUSIONS: Significantly higher frequency of different allelle of five variants was observed in cases when compared to the control group, with significant risky effect for the development of septal defect. In addition to two polymorphisms of NKX2-5 (rs2277923, rs28936670) variant in the cardiac septal defect, two variants in GATA4 (rs368418329, rs56166237) and one variant in TBX5 (rs6489957) seem to have a role in the pathogenesis of congenital heart disease.


Subject(s)
GATA4 Transcription Factor/genetics , Heart Defects, Congenital/genetics , Homeobox Protein Nkx-2.5/genetics , Polymorphism, Single Nucleotide , T-Box Domain Proteins/genetics , Child , Egypt , Female , Gene Frequency , Humans , Male
3.
East Mediterr Health J ; 23(1): 31-39, 2017 Feb 21.
Article in English | MEDLINE | ID: mdl-28244059

ABSTRACT

This study was conducted in the neonatal intensive care unit of Benha University Hospital, Egypt from 1 August 2012 to the 31 January 2013 to identify medical errors and to determine the risk factors and consequences of these errors. Errors were detected by follow-up of neonates and review of reports including nursing followup sheets, resident progression notes and investigation reports. We detected 3819 errors that affected 97% of neonates. Types of errors included 403 medication errors (10.55% of total errors), 652 errors in daily routine procedures (17.07%), 1042 errors in invasive procedures (27.28%), 68 errors in nutrition (1.78%), 63 equipment errors (1.64%), 260 administration errors (6.8%), 656 staffing errors (17.18%), 107 environmental errors (2.8%), 448 infection control errors (11.73%) and 120 nosocomial infection errors (3.14%). Medical errors were high in low birth weight, low gestational age neonates and increased with duration of admission.


Subject(s)
Hospitals, University , Intensive Care Units, Neonatal , Medical Errors , Egypt , Female , Humans , Infant, Newborn , Male , Medical Errors/statistics & numerical data , Prospective Studies
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