Immunological Markers in Children with Genetic Disorders and Recurrent Respiratory Tract Infections

BACKGROUND: Recurrent respiratory tract infections (RRI) are one of the extremely high common reasons for pediatric visits and hospitalization. Immunodeficiencies are considered as important conditions that may increase the probability of occurrence of RRI. Mannose-binding lectin (MBL2) is a protein of the innate immune system involved in the opsonization and the complement activation. MBL2 deficiency is associated with infectious diseases mainly chest infections; however, subnormal MBL2 levels are also seen in healthy subjects. Primary immunedeficiencies are associated with recurrent infections which mainly appear in early childhood. AIM: The aim of the study was to estimate T and B and natural killer cells percentage and to investigate the MBL2 and immunoglobulins (Igs) serum levels in children with recurrent RRIs in different genetic disorders compared to normal control. METHODS: This study included 50 children having a history of recurrent RRIs. All patients had genetic disorders and referred to National Research Centre for follow-up, in addition to, 25 children, age- and sex-matched as a healthy control group. They were subjected to full clinical examination and laboratory investigations including complete blood count (CBC), CD3, CD4, CD8, CD16, and CD19 by flow cytometry, MBL2 by enzyme-linked immunosorbent assay (ELISA), and Igs serum concentrations by nephelometry. RESULTS: CD16 showed a non-statistical significant difference between both patient groups. Serum levels of IgA in patient groups showed a significant decrease compared to the control group. Moreover, the serum level of IgM results shows a highly significant decrease when compared with the control group. There was no statistically significant difference in MBL2 and IgG serum levels between patient groups and control group. CONCLUSION: Children with genetic disorders and recurrent RRIs showed a statistically significant decrease of IgA and IgM serum levels as compared to the control group, while the serum level of MBL2 did not show significant results

MicroRNAs as Potential Biomarkers for Childhood Epilepsy

BACKGROUND: Epilepsy is the most frequent chronic neurologic condition in childhood. Its clinical diagnosis is based on electroencephalograms (EEG) and neuroimaging techniques. MicroRNAs (miRNAs) modulate gene expression of several genes and are aberrantly expressed in several diseases. AIM: Evaluation of using circulating miR-106b and miR-146a as diagnostic and prognostic biomarkers in children patients with epilepsy. METHODS: Thirty epileptic children and twenty controls were enrolled in our study. They were assessed for the expression pattern of miR-106b and miR-146a in plasma using quantitative real-time PCR and determination of plasma Immunoglobulin levels. RESULTS: MiR-146a and miR-106b expression patterns were significantly up-regulated in children patients than that in normal controls. Plasma Immunoglobulins were differentially expressed in epileptic patients in comparison with healthy controls. No correlations were found between expression levels of miRNAs (miR-146a and miR-106b) and clinical data or immunoglobulin levels in children patients with epilepsy. CONCLUSION: Our findings suggest that up-regulated plasma miR-106b and miR-146a could be used as biomarkers for epilepsy evaluation

Immunological Evaluation in Patients with Familial Mediterranean fever

OBJECTIVE: This study aimed to investigate T & B lymphocyte subsets and Natural Killer (NK) cells patterns in children with FMF versus normal control subjects, to estimate the immunoglobulins IgG, IgM, and IgA levels, and to scrutinize the possible use of Neutrophil / Lymphocyte ratio (NLR) as a marker for subclinical inflammation in FMF patients.PATIENTS AND METHODS: A group of 42 patients with FMF attending the Genetics Clinic at National Research Centre were included in this study. They were 13 males and 19 females; their age ranged from 2 to 17 years old. Normal healthy subjects within the same age and sex range were included as a control group. Complete blood picture was done for all cases, and neutrophil/ lymphocyte ratio was calculated. Flow cytometer analysis was done for CD3, CD4, CD8, CD19 and CD16 using monoclonal antibodies. Immunoglobulins IgG, IgA and IgM were estimated in serum using nephelometry.RESULTS: Positive consanguinity was present in 20 patients (47.6%). Abdominal pain was the most common manifestation followed by fever, arthritis, and red rash. CD3, CD4 and CD8 were statistically increased in patients group as compared to normal control group, while CD16 was statistically decreased.CONCLUSION: The study suggests that quantitative measurement of CD expressions of CD3, CD4 and CD8 as well as NLR might be used as valuable markers for subclinical inflammation in FMF

The Validity of Body Adiposity Indices in Predicting Metabolic Syndrome and Its Components among Egyptian Women

AIM: To assess the associations between the body adiposity indices and risk of metabolic syndrome (MS) and its components in Egyptian women and to evaluate their predictive power.MATERIALS AND METHODS: This was a cross-sectional analysis performed on 180 Egyptian women aged between 25-35 years. They were 90 women with MS diagnosed by International Diabetes Federation (IDF) and 90 healthy age matched controls. Body adiposity index (BAI), body mass index (BMI), waist to hip ratio (WHR) and waist to height ratio (WHtR) were calculated and serum samples were analyzed for metabolic parameters. Receiver operating characteristic curves (ROC) was used to determine the discriminatory capacity of BAI, WHR WHtR and BMI for MS.RESULTS: Area under the curve (AUC) was highest for BIA, followed by WHR, WHtR and then BMI. All adiposity indices were significantly correlated with metabolic components and BAI had the highest correlation coefficients compared to other indices.CONCLUSION: BAI is a practical predictor for MS and has satisfactory diagnostic accuracy for diagnosing MS among Egyptian women and can be used in addition to WHR, WHtR and BMI for identifying MS in the field studies

Combination of Human Amniotic Fluid Derived-Mesenchymal Stem Cells and Nano-hydroxyapatite Scaffold Enhances Bone Regeneration

BACKGROUND: Human amniotic fluid-derived stem cells (hAF-MSCs) have a high proliferative capacity and osteogenic differentiation potential in vitro. The combination of hAF-MSCs with three-dimensional (3D) scaffold has a promising therapeutic potential in bone tissue engineering and regenerative medicine. Selection of an appropriate scaffold material has a crucial role in a cell supporting and osteoinductivity to induce new bone formation in vivo. AIM: This study aimed to investigate and evaluate the osteogenic potential of the 2nd-trimester hAF-MSCs in combination with the 3D scaffold, 30% Nano-hydroxyapatite chitosan, as a therapeutic application for bone healing in the induced tibia defect in the rabbit. SUBJECT AND METHODS: hAF-MSCs proliferation and culture expansion was done in vitro, and osteogenic differentiation characterisation was performed by Alizarin Red staining after 14 & 28 days. Expression of the surface markers of hAF-MSCs was assessed using Flow Cytometer with the following fluorescein-labelled antibodies: CD34-PE, CD73-APC, CD90-FITC, and HLA-DR-FITC. Ten rabbits were used as an animal model with an induced defect in the tibia to evaluate the therapeutic potential of osteogenic differentiation of hAF-MSCs seeded on 3D scaffold, 30% Nano-hydroxyapatite chitosan. The osteogenic differentiated hAF-MSCs/scaffold composite system applied and fitted in the defect region and non-seeded scaffold was used as control. The histopathological investigation was performed at 2, 3, & 4 weak post-transplantation and scanning electron microscope (SEM) was assessed at 2 & 4 weeks post-transplantation to evaluate the bone healing potential in the rabbit tibia defect. RESULTS: Culture and expansion of 2nd-trimester hAF-MSCs presented high proliferative and osteogenic potential in vitro. Histopathological examination for the transplanted hAF-MSCs seeded on the 3D scaffold, 30% Nano-hydroxyapatite chitosan, demonstrated new bone formation in the defect site at 2 & 3 weeks post-transplantation as compared to the control (non-seeded scaffold). Interestingly, the scaffold accelerated the osteogenic differentiation of AF-MSCs and showed complete bone healing of the defect site as compared to the control (non-seeded scaffold) at 4 weeks post-transplantation. Furthermore, the SEM analysis confirmed these findings. CONCLUSION: The combination of the 2nd-trimester hAF-MSCs and 3D scaffold, 30% Nano-hydroxyapatite chitosan, have a therapeutic perspective for large bone defect and could be used effectively in bone tissue engineering and regenerative medicine

ABO blood grouping in Egyptian children with rotavirus gastroenteritis

Introduction : Rotavirus gastroenteritis is an important public health problem all over the world, causing a notable economic burden in both developing and developed countries. Aim: To explore the relationship between blood group typing, rotavirus gastroenteritis, and its severity in Egyptian children. Material and methods: A cross sectional case control study was conducted on 231 cases of acute gastroenteritis attending the outpatient clinic of Al-Zahraa University Hospital. Full history taking, clinical examination, and clinical data collection were done. Blood samples were collected for an ABO grouping. Stool samples were tested for viral gastroenteritis agents. Results : Rota positive cases of GE were significantly more prevalent among cases with blood group A (p < 0.05) and significantly less among cases with blood group B (p < 0.05). The rate of hospitalisation was highly significantly greater among cases with group A (p < 0.005), and significantly lower among cases with group AB and O (p < 0.05). As regards the degree of dehydration, moderate and severe cases were highly significant in groups A and O (p < 0.005). Rota-positive gastroenteritis showed significant positive correlations with indicators of severity such as hospitalisation, degree of dehydration, and duration of fever (p < 0.005). Conclusions : Blood group A is highly associated with paediatric rotavirus gastroenteritis. This could highlight an important risk factor, which could play a significant role for the pathogenesis of rotavirus gastroenteritis and severity as well. Furthermore, more intervention care could be needed for blood group A paediatric patients, if gastroenteritis especially rotavirus affect this group to avoid comorbidities

The relation between glutathione S-Transferase M1 null-genotype and cardiac problems in beta-thalassemia

This work was carried out to investigate the role of Glutathione S-Transferase M1 (GSTM1) null genotype frequency in prognosis of β-thalassemia, and to detect the correlation between GSTM1 null genotype and appearance of cardiac complications in β-thalassemia. Materials and Methods. The studied groups in the present work were divided to three groups (group I: 20 healthy subjects, group II: 56 β-thalassemic patients and group III: 16 β-thalassemic patients with cardiac complications were taken from group II). The measurement of human high sensitive C-reactive protein (hs-CRP) was performed using nephelometry. GSTM1 genotype was detected by Polymerase Chain Reaction (PCR) and cardiac complications were determined by using Echocardiography. Results. A statistically significant increase in hs-CRP and interleukin-6 (IL-6) levels was found in β-thalassemic patients with cardiac complications compared to normal subjects. Results showed no relation between GSTM1 null genotype frequency neither with β-thalassemia nor with cardiac complications appearance, where the interaction between GSTM1 null genotype in β-thalassemic patients with cardiac complications and healthy subjects were insignificant compared to subjects with GSTM1 non-null genotype. Conclusions. GSTM1 null genotype frequency has no role in β-thalassemia or cardiac complications appearance

Altered Adaptive Cellular Immune Function in a Group of Egyptian Children with Autism

Introduction: There is a growing evidence of immune system alteration in children with Autism Spectrum Disorder (ASD). These changes may include higher levels of pro-inflammatory cytokines in plasma, Cerebrospinal Fluid (CSF) and brain cells. Aim: To evaluate the imbalance of the immune system in autism through correlating some immunological markers (C3, C4, CD4, IL12 and IL17) with severity of ASD. Materials and Methods: The current case-control study included 120 subjects, 60 autistic children and 60 healthy control obtained from the Clinical Genetics Clinic, National Research Centre, Egypt from the period between December 2014 to December 2016. All candidates were subjected to full clinical evaluation in addition to ElectroEncephaloGraphy (EEG), hearing test and estimation of interleukins (IL12- IL17), C3-C4, CD4 levels in blood samples. Independent t-test, Chi-square test or McNemar test were used to analyse the data. Results: The levels of IL12 (27.47 ±7.15) and IL17 (1630.46±310.42) were significantly higher, (p= 0.026, 0.005) respectively, while levels of CD4 were significantly lower (37.93±3.25), (p<0.001) in autistic children compared to controls; however, there was no significant difference in C3 and C4 between the two groups. High statistically significant difference between autistic children with moderate and severe ASD in CD4 levels were seen, (p=0.018). Conclusion: Autistic children may suffer from immunological dysfunction. Further efforts should be exerted to find out the relation between immune imbalance and the progression of ASD

Metabolic abnormalities in young Egyptian women with polycystic ovary syndrome and their relation to ADIPOQ gene variants and body fat phenotype

Background: Polycystic ovary syndrome (PCOS) is the most common endocrine disorder. It is associated with high prevalence of metabolic risk factors, but little is known about the prevalence of metabolic syndrome (MS) and its components among Egyptian PCOS women. The objective of the study was to determine the metabolic abnormalities among young Egyptian women with PCOS and evaluate their relation with adiponectin gene (ADIPOQ) variants and body fat adiposity pattern. Materials and methods: The present study included 80 PCOS women and 80 healthy women with similar age and body mass index. All participants underwent clinical, anthropometric, biochemical, ultrasonographic and adiponectin (ADIPOQ) gene 11391G>A (rs17300539) examinations. Insulin resistance was assessed by the Homeostatic model assessment for insulin resistance (HOMA-IR). Results: MS was identified in 22.5% of PCOS women. The most prevalent MS components in PCOS women were central obesity, decreased high-density lipoprotein cholesterol (HDL-C), and increased triglycerides (TG), blood pressure (BP) and fasting glucose levels. The study found association between ADIPOQ promoter variants −11391G>A and MS in PCOS women. Moreover, multivariate logistic regression analysis showed association between abdominal fat accumulation and IR in PCOS. Conclusion: The prevalence of MS was significantly higher in PCOS women than controls, and central obesity and hypertension are risk factors for insulin resistance. Moreover, obesity plays a key role in the development of PCOS and ADIPOQ −11391G>A gene variants showed association with MS