FOXO3a gene polymorphism and bronchial asthma in Egyptian children INTRODUCTION Bronchial asthma is the most prevalent chronic immunological disorder in childhood period. It is characterized by airways inflammation and bronchial hyper-responsiveness where

Background: FOXO3a proteins play multiple crucial roles in immune response. FOXO3 inhibits T cell proliferation, induces T cell apoptosis via upregulation of proapoptotic proteins and it suppresses T cell activation preventing autoimmunity. The role of FOXO3a gene in the pathogenesis of bronchial asthma has been studied in few ethnic groups and revealed its implication in asthma pathogenesis.Objectives: The aim of the current study is to detect the association between single nucleotide polymorphism of the FOXO3a gene (rs13217795) and bronchial asthma, atopy and asthma severity in Egyptian children.Methods: The current cross-sectional case-control study was performed on 75 asthmatic children aged 2 to 12 years following up in the pulmonology outpatient clinic in Children's hospital, Cairo University and 75 age and sex matched healthy controls. Candidates were subjected to clinical evaluation in addition to genotyping for the FOXO3a gene polymorphism using PCR-RFLP technique.Results: The highest frequency was for the heterozygous type CT in both cases and controls groups. The genotype frequencies of mutant type TT for cases and controls were 12 % and 16% respectively, and the T allele frequencies were 37.2% in cases and 46.7% in the control group while CC genotype was present in 37.3% of asthmatic patients and 22.6% in the controls and the C allele was detected in 62.8% and 53.3% for cases and controls respectively. No statistically significant differences were observed between asthmatic patients and controls regarding the different genotypes of the FOXO3a gene polymorphism (p=0.161). No significant association was detected between the different genotypes of the FOXO3a gene polymorphism and the atopic status (p=0.536) or the different grades of asthma severity (p= 0.545).Conclusions: The study of FOXO3a gene polymorphism (rs13217795) in asthmatic Egyptian children revealed low frequency of the mutant TT genotype among cases and controls. In the current study, FOXO3a polymorphism has no role in the pathogenesis of asthma or atopy. Moreover, it has no relation to degree of disease severity.Keywords: Asthma, FOXO3a, gene, children, Egyptian, polymorphis

Study of the effect of HFE gene mutations on iron overload in Egyptian thalassemia patients

Background: HFE gene mutations have been shown to be responsible for hereditaryhemochromatosis. Their effect on iron load in β-thalassemia patients and carriers remains controversial.Objectives: We aimed to determine the prevalence of HFE gene mutations (C282Y and H63D) in β-thalassemia patients and carriers and to investigate its effect on their serum ferritin levels.Patients and methods: A total of 100 β-thalassemia subjects; 75 patients and 25 carriers were screened for HFE gene mutations by PCR-RFLP. Serum ferritin measured by ELISA was evaluated in relation to HFE mutations.Results: Twenty-eight β-thalassemia patients (37.3%) were heterozygotes for H63D mutation (H/D), 8 (10.7%) were D/D and 39 (52%) were negative (H/H). Among carriers, 4 (16%) were D/D and 21 (84%) were H/H homozygotes. C282Y mutant allele was not detected in any of the subjects. Serum ferritin levels were significantly higher in β-thalassemia patients heterozygotes or homozygotes for H63D mutation compared to those without mutation (p= 0.000). Carriers homozygotes for H63D mutation showed significantly higher serum ferritin levels compared to those without mutation (p< 0.001).Conclusion: Homozygosity for H63D mutation tends to be associated with higher ferritin levels in beta-thalassemia patients and carriers suggesting its modulating effect on iron load in these cases

An Intelligent Information System for Groundwater Resources Categorization and Assessment

Abstract: This paper aims to present an intelligent information system developed for groundwater categorization and classification. The developed system integrates more than one research field and tools, including Decision Support Systems (DSS), Geographic Information Systems (GIS), knowledge base and modeling and visualization enhancement. Visual Basic (VB) environment is used as an inference engine for this system and the code is written using VBA. The system aims to categorize water resources according to the international water quality criteria (FAO, USSL, Gupta and Roades) and to reclassify water resources according to a developed decision matrix from the application of the expert system. A user friendly interface (GUI) is developed to help the user to manage the system and to link different system environments. The system is linked through the GUI with a GIS to display the water resources layers and to provide functions to query and display the spatial locations and associated attributes. The system is used to make a decision about the suitability of water resources to a specific crop and vice versa. The developed system is tested on groundwater recourses in Siwa Oasis, Egypt

Protein Energy Wasting in a Sample of Egyptian Children on Regular Hemodialysis: Relation to Anorexigenic Hormones

BACKGROUND: Increased incidence of pediatric end-stage renal disease (ESRD) with associated serious consequences indicating a major public health problem. Malnutrition and uremic wasting are leading causes of growth impairment and increasing morbidity and mortality of pediatric ESRD patients, predominantly those on regular hemodialysis (HD). Ghrelin and obestatin, which are known appetite regulatory hormones, might have a pivotal role in uremic wasting and growth impairment in hemodialyzed children. AIM: The aim of the present study was to measure serum unacylated ghrelin (UAG) and obestatin and to investigate their roles in the growth impairment of Egyptian hemodialyzed children. SUBJECTS AND METHODS: The study included 50 hemodialyzed and 40 healthy children recruited from the Department of Nephrology, Pediatric Hospital, Ain Shams University. Full clinical examination and measurement of anthropometric indices were done. Routine labs were done as well, with an assessment of serum levels of obestatin, UAG, and insulin by enzyme linked immunosorbent assay. Furthermore, we determined fasting serum glucose and lipid profile with the calculation of homeostasis model assessment for insulin resistance (HOMA-IR). RESULTS: Anthropometric measurements were statistically significantly decreased in the hemodialyzed group than that of the control group (p < 0.05). Weight z-score was the most affected anthropometric parameter (37 patients = 74% with underweight and 13 patients = 26% with normal weight). The hemodialyzed children showed a significant increase of UAG, obestatin, insulin, glucose, HOMA-IR, and TG, while a significant decrease of HDL-cholesterol and albumin (p < 0.01). UAG had a negative correlation with Wt-z score, Ht z-score, fat mass %, albumin, and TG while obestatin was inversely correlated to Wt-z score, BMI z-score, waist circumference, and waist-height ratio (W/H). CONCLUSION: UAG and obestatin hormones were elevated in a group of Egyptian children on regular HD. These hormones were strongly related to the impairment of renal functions, and anthropometric parameters, dyslipidemia, hypoalbuminemia, and insulin resistance in these pediatric hemodialyzed patients

Vitamin D Status in Neonatal Pulmonary Infections: Relationship to Inflammatory Indicators

AIM: The study aimed to evaluate serum vitamin D concentrations among neonates with pneumonia. METHODS: This case-control study enrolled 33 neonates with pneumonia in addition to 30 healthy controls. CBC, CRP, Serum vitamin D and Pentraxin 3 levels were measured for all participants. RESULTS: There was significant difference between patients and controls regarding Hemoglobin levels, TLC and CRP (p value < 0.01, = 0.002, < 0.01 respectively). Patients with pneumonia showed significant lower levels of Vit. D (9 ± 2.1) compared to controls (14.1 ± 2.8), P value < 0.01. However, patient group had significant higher levels of Pentraxin 3 (29.1 ± 4.8) compared with controls (12.6 ± 3), P value < 0.01. Moreover, mechanically ventilated patients revealed significant lower vit D (7.7 ± 1.8) and higher pentraxin 3 (32.2 ± 2.6) compared to patients on free oxygen (9.1 ± 2.1, 26.4 ± 3.7 respectively), P value = 0.05, 0.02 respectively. Regarding hospital stay, it had significant positive correlation with serum pentraxin 3 (r = 0.6, P value < 0.01) and significant negative correlation with serum vit D (r = -0.4, P value = 0.04). Finally a significant negative correlation between serum levels of vitamin D and Pentraxin 3 was found (r = -0.4, P value = 0.01). CONCLUSION: Lower concentration of serum vitamin D may be significantly associated with neonatal pneumonia. It also can predict the need for mechanical ventilation and duration of hospital stay in neonatal pneumonia. Similarly, higher levels of Pentraxin 3 may be used as an indicator for mechanical ventilation need and a longer hospital stay in neonates with pneumonia

Serum Apelin and Obesity-Related Complications in Egyptian Children

BACKGROUND: The rapidly increasing prevalence of childhood obesity became a major burden on health worldwide, giving an alarm to clinicians and researchers. Adipocytes act as an active endocrine organ by releasing plenty of bioactive mediators (adipokines) that play a major role in regulating metabolic processes. Apelin is a recently identified adipokine that is expressed in adipocytes.AIM: The current work aimed to uncover the relation between serum apelin and childhood obesity and its related complications as hypertension and hyperglycemiaMETHOD: A group of 50 obese and 31 non-obese; sex- and age-matched children were enrolled in our study with a mean age of (9.5 ± 2.1) and (8.7 ± 1.3) respectively. Anthropometric measurements, blood pressure, were assessed in all studied participants, we also determined the lipid profile, serum insulin, fasting blood glucose (FBG) level, HOMA-IR and serum apelin.RESULTS: Obese children had higher levels of HbA1c, FBG, serum insulin, HOMA-IR, total cholesterol, triglycerides, low-density lipoprotein (LDL) and diastolic blood pressure (DBP Z-score); compared to controls (all P < 0.05). Apelin was significantly higher in obese children versus controls and correlated positively with BMI Z-Score (P = 0.008), DBP Z-Score (P = 0.02), cholesterol, TG (both P = 0.02), serum insulin (P = 0.003), FBG and HOMA-IR (both P = 0.001). Linear regression analysis showed that FBG was the most effective factor in predicting the level of serum apelin (P = 0.04).CONCLUSION: This work supports the hypothesis that apelin may have a crucial role in the pathogenesis of health hazards related to obesity in children including insulin resistance, hypertension and a higher risk of occurrence of metabolic syndrome

Pentraxin 3: A Potential Novel Predictor for Neonatal Pulmonary Hypertension

BACKGROUND: Persistent pulmonary hypertension of the newborn (PPHN) is a serious neonatal problem which has a high mortality rate even with advanced modes of mechanical ventilation. Pentraxin 3 is one of the long pentraxins, which plays an essential role in regulation of cell proliferation and angiogenesis. AIM: This study aims to assess serum pentraxin 3 levels in neonates with pulmonary arterial hypertension and compare them in those who have other congenital heart diseases and healthy neonates. Also, we intended to evaluate serum levels of CRP as a mediator of inflammation in the studied groups. METHODS: The study is a case-control study. Cases were recruited from El Galaa Teaching Hospital, classified into three groups; each group had thirty cases. The first one: cases with pulmonary hypertension (PHT), the second one: cases with congenital heart diseases (CHD) without pulmonary hypertension and the third group included healthy neonates. All participants were subjected to full history taking and full clinical examination. Diagnosis of congenital heart disease and pulmonary hypertension was made according to echocardiographic ï¬ndings by pediatric cardiologist using echocardiography machine. Laboratory investigations included measurement of serum pentraxin 3, Routine CBC, CRP. RESULTS: This study found that the mean serum pentraxin 3 in PHT neonates was significantly higher than that of the control and CHD neonates (p ≤ 0.001, p = 0.02 respectively). Also, the mean Pentraxin3 of the CHD neonates was significantly higher than that of the control (p = 0.06). Also, the mean CRP of the PHT neonates was significantly higher than that of the control (p = 0.01). Regression analysis showed that Pentraxin3 was the main predictor of PAP (P = 0.01). CONCLUSION: Serum pentraxin 3 is significantly elevated in neonates with pulmonary hypertension, so measurement of pentraxin 3 levels in neonates may be valuable as a predictor for pulmonary hypertension in neonates

Information gaps for patients requiring craniotomy for benign brain lesion: a qualitative study

Doctor–patient communication in the setting of a life-threatening illness poses considerable challenges. This study aimed to determine the information needs of a subset of neurosurgical patients. Qualitative case study methodology was used. Twenty-five semi-structured interviews were conducted with ambulatory adult patients who had undergone surgery for a benign brain tumor, arteriovenous malformation, or unruptured aneurysm. Interviews were digitally audio recorded and transcribed, and the data subjected to thematic analysis. Six overarching themes emerged from the data: (1) the amount of information patients want varies; (2) the type of information needed is not limited to information about treatment options and risks; (3) patients engage in independent information seeking for a variety of reasons; (4) patients consider compassion from their surgeon as important; (5) direct communication with the surgeon post-operatively is very important; and (6) patients’ information needs are greatest post-operatively. Many patients felt that the amount and quality of information they received was not sufficient, particularly regarding post-operative recovery and long-term life issues, leading many to do their own research. The findings from this study emphasize the need for improved communication with patients so they can participate meaningfully in choices about their treatment, give a truly informed consent, and effectively participate in their own recovery