Rabie, W., A. Al-Taweel, W. A. Abuelhamd, walaa shahin, M. Nazeer, and H. Aly, "Erythrocyte Complement Receptor 1 Gene Polymorphisms and Neonatal Respiratory Distress Syndrome.", Journal of pediatric genetics, vol. 11, issue 1, pp. 15-21, 2020. Abstract

To evaluate the role of erythrocyte complement receptor 1 ( ) gene in the predisposition to respiratory distress syndrome (RDS), we studied 50 infants with RDS and 50 controls. Real-time polymerase chain reaction allelic discrimination analysis of A3650G (rs2274567) and genotyping of the alleles (HindIII) were performed. Allele L of HindIII restricted single nucleotide polymorphism (SNP) associated with the severity of RDS. Duration of oxygen and ventilation in genotypes AA and AG of A3650G SNP was longer than genotype GG (17.6 ± 19.4 and 8.6 ± 4.5 days,  = 0.01) and (8.9 ± 11.9 and 3.9 ± 3.53 days,  = 0.03), respectively. A3650G and HINDIII digested gene polymorphisms of may be of little importance for RDS.

Esmail, E. H., D. M. Labib, and W. A. Rabie, "Association of serotonin transporter gene (5HTT) polymorphism and juvenile myoclonic epilepsy: a case-control study.", Acta neurologica Belgica, vol. 115, issue 3, pp. 247-51, 2015. Abstract

Serotonin levels might alter susceptibility to seizures. Serotonin transporter (5HTT) gene polymorphisms were found to be associated with some forms of epilepsy. Here, we attempted to examine an association between 5HTT VNTR allele variants in a serotonin transporter gene and epileptogenesis in juvenile myoclonic epilepsy (JME) cases. We conducted a case-control candidate gene study evaluating the frequencies of 5HTT VNTR allele variants using SYBR green real-time PCR with melting curve analysis in JME patients and healthy subjects. Forty patients with JME were selected from the Epilepsy Outpatient Clinic of Kasr Al Ainy Hospital, Cairo University, who had been classified according to the electroclinical classification of the ILAE. The control group consisted of 40 healthy Egyptian subjects. The less efficient transcriptional genotypes for 5-HTT polymorphisms were more frequent in JME patients (OR 9.33, CI 2.85-30.60; p value < 0.001). In our study we detected an association between the presence of 5-HTTVNTR with less transcriptional efficient genotypes and JME, which suggests that modulation of the serotoninergic system might be indicated in epileptogenesis in JME.

Hamdy, M. M., D. S. Mosallam, A. M. Jamal, and W. A. Rabie, "Selenium and Vitamin E as antioxidants in chronic hemolytic anemia: Are they deficient? A case-control study in a group of Egyptian children.", Journal of advanced research, vol. 6, issue 6, pp. 1071-7, 2015. Abstract

Accelerated oxidative damage is one of the hallmarks in both sickle cell disease (SCD) and thalassemia major (TM). A decreased antioxidant level is found in both diseases. Our study was carried out to evaluate the variation in serum levels of Selenium and Vitamin E among a group of transfusion dependant Egyptian SCD and TM patients, further more to correlate these levels with iron overload status or transfusion requirements. A case-control study was conducted at the Cairo University Pediatric Hospital to assess the serum levels of Selenium using Atomic Absorption Spectrometer and Vitamin E using commercially available ELISA Kit in transfusion dependent children, 30 with beta thalassemia and 30 with SCD in a steady state aged from 6 to 18 years, these findings were compared to 30 age/sex matched healthy controls. Our results revealed a depleted antioxidants level in the studied group of Egyptian children with TM and SCD relative to healthy controls (P < 0.05). A significant positive correlation was found between Vitamin E levels and ferritin (r = 0.26, p = 0.047) in SCD and TM patients. Nonsignificant correlation was detected between serum Selenium and Vitamin E. Moreover, values of these antioxidants did not correlate with indices of hemolysis nor with those of inflammation in chronically transfused TM and SCD patients.

El-Mougy, F. A., M. M. Youssef, D. A. Omran, S. A. Sharaf, H. H. El-Sayed, W. A. Rabie, E. A. Mohamed, and H. A. Elghobary, "Aberrant p16INK4A methylation: Relation to viral related chronic liver disease and hepatocellular carcinoma.", South Asian journal of cancer, vol. 3, issue 1, pp. 1-4, 2014. Abstract

BACKGROUND: Hepatocellular carcinoma (HCC) is currently the fifth most common solid tumor worldwide and the third leading cause of cancer related deaths. Several studies have shown that the tumor suppressor gene p16INK4A is frequently downregulated by aberrant methylation of the 5'-cytosine-phosphoguanine island within the promoter region.

AIM: To find out the frequency of methylated p16INK4A in the peripheral blood of HCC and cirrhotic patients and to evaluate its role in hepatocarcinogenesis.

PATIENTS AND METHODS: This study was performed on 58 subjects: 30 HCC patients, 20 cirrhotic patients, and eight healthy volunteers. Methylation of p16INK4A was examined using methylation specific polymerase chain reaction (PCR) (MSP). Comparison of quantitative variables between the study groups was done using Mann-Whitney U test for independent samples when not normally distributed. For comparing categorical data, Chi-square (χ(2)) test was performed. Exact test was used instead when the expected frequency was less than 5.

RESULTS: Methylation of p16INK4A was found in 6.7% of HCC patients, 5% of liver cirrhosis (LC) patients, and none of the healthy volunteers; 66.67% of the p16INK4A-methylated cases (2/3) were positive for anti-hepatitis C virus (HCV) antibodies (one of them had HCC). All HCC cases with aberrant p16INK4A methylation show very high serum alpha fetoprotein (AFP) level (9,080; 30,000 μg/mL). There were no significant associations between the status of p16INK4A methylation and tumor size.

CONCLUSION: Hypermethylation of p16INK4A was found to be infrequent among Egyptian patients with HCC.

walaa shahin, W. Rabie, O. Alyossof, M. Alasiri, M. Alfaki, E. Mahmoud, M. Hijazi, H. Elfaraidi, and H. Alahmari, "COVID-19 in children ranging from asymptomatic to a multi-system inflammatory disease: A single-center study.", Saudi medical journal, vol. 42, issue 3, pp. 299-305, 2021. Abstract

OBJECTIVES: To identify clinical and laboratory characteristics of the Saudi children with confirmed COVID-19.

METHODS: Eighty-eight children (0-14 years) with COVID-19 who were admitted to Prince Sultan Military Medical City (PSMMC), Riyadh, Saudi Arabia from April to June 2020 were recruited.

RESULTS: Mean age was 5.74 ± 4.7 years with 41 (49.4%) males and 42 (50.6%) females. The length of hospital stay (LOS) ranged from 1 to 17 days. The main source of infection was infected family members. Mean values of C-reactive protein (CRP), serum ferritin, and lactate dehydrogenase (LDH) were noticeably above normal. Degree of severity and length of stay was significantly correlated with lymphopenia (r= -0.36; =0.001), whereas it was positively correlated with absolute neutrophil count and with high inflammatory markers, such as CRP, LDH, and others.

CONCLUSIONS: Identifying the clinical and laboratory characteristics of the Saudi children with confirmed COVID-19 will improve understanding of this disease's presentation and will help put rapid and proper management strategies into place to face this pandemic. A high index of suspicion is needed for cases presenting with multi-system inflammatory disease, which represented 5.7% of the included study population.

walaa shahin, A. Bader, R. Ahmed, M. Alattar, M. Alfalaki, and W. Rabie, "Assessment of Urinary Kidney Injury Molecule-1 as an Indicator of Early Renal Insult in Children with Cystic Fibrosis", Open Access Macedonian Journal of Medical Sciences, vol. 8, issue B, pp. 262-267, 2020.
Bazaraa, H. M., H. I. Rady, S. A. Mohamed, W. A. Rabie, and N. H. ElAnwar, "Initial Response and Outcome of Critically Ill Children With Guillain Barre' Syndrome.", Frontiers in pediatrics, vol. 7, pp. 378, 2019. Abstract

Guillain-Barre syndrome is the most common cause of acute flaccid paralysis worldwide since the eradication of poliomyelitis. Severe cases may require intensive care and mechanical ventilation. was to study pediatric patients with severe GBS requiring intensive care unit (ICU) admission, to assess their course and response to initial treatment modality plasma exchange (PE) or intravenous immunoglobulins (IVIg) and their final outcome. children with severe GBS who had either actual or impending respiratory failure, bulbar involvement or rapid progression of acute flaccid paralysis with trunk, upper limb and neck involvement within 24 h of the onset of weakness were enrolled. 40 children were included. Following the initial treatment (33 subjects had 5 PE sessions each and IVIg in 7), 16 patients improved (40%), two died and 22 (55%) showed initial treatment failure. Axonal neuropathy, rapid progression and severe motor weakness significantly predicted poor response to therapy. At discharge, favorable outcomes (patient can walk unaided) were present in 22 cases (58%). Despite relatively low mortality, critically ill children with severe GBS have increased prevalence of axonal neuropathy and guarded response to initial therapy with PE or IVIg.

Elkoofy, N. M., H. I. Rady, S. M. Abdallah, H. M. Bazaraa, W. A. Rabie, and A. A. El-Ayadi, "The effect of high fat dietary modification and nutritional status on the outcome of critically ill ventilated children: single-center study.", Korean journal of pediatrics, vol. 62, issue 9, pp. 344-352, 2019. Abstract

BACKGROUND: Ventilator dependency constitutes a major problem in the intensive care setting. Malnutrition is considered a major determinant of extubation failure, however, attention has been attracted to modulating carbon dioxide production through decreasing carbohydrate loading and increasing the percent of fat in enteral feeds. The detected interrelation between substrate oxidation and ventilation outcome became the base of several research to determine the appropriate composition of the nonprotein calories of diet in ventilated patients.

PURPOSE: We aimed to assess the effect of high-fat dietary modification and nutritional status on ventilatory and final outcomes of pediatric intensive care.

METHODS: Fifty-one ventilated children (1 month to 12 years of age) with pulmonary disease who could be enterally fed, in the Cairo University Pediatric intensive care unit, were divided into 2 groups: group A included 25 patients who received isocaloric high-fat, low-carbohydrate diet; group B included 26 patients who received standard isocaloric diet. Comprehensive nutritional assessment was done for all patients.

RESULTS: Group A had a significant reduction in carbon dioxide tension, but no similar reduction in the duration or level of ventilatory support. Assisted minute ventilation was predicted by weight-for-age and caloric intake rather than the type of diet. Poor nutritional status was associated with higher mortality and lower extubation rates. Mild hypertriglyceridemia and some gastrointestinal intolerance were significant in group A, with no impact on the adequacy of energy or protein delivery.

CONCLUSION: The high-fat enteral feeding protocol may contribute to reducing carbon dioxide tension, with mild hypertriglyceridemia and negligible gastrointestinal intolerance as potential adverse effects. Optimization of nutritional status rather than dietary modification may improve ventilatory and survival outcomes in critically ill-ventilated children.

Shaban, M. M., N. M. S. Eldin, H. O. Kandil, H. O. Kandil, W. A. Rabie, W. Elgarf, and M. T. Elrayes, "Maternal urinary cell free fetal DNA in relation to gestational age", Middle East Fertility Society Journal, vol. 12, issue 4, pp. 241–245, 2016.
A-Y, H. S., M. F. M, RandS, M. F, M. F, and W. A. R, "Taq1 B Polymorphism Of Cholestryl Ester Transfer Protein; A Potential Risk Factor For Atherosclerosis In Niddm Diabetes Mellitus", Life Science Journal, vol. 12, issue 9, pp. 25-30, 2015.