A5020575772- Hepatitis C virus research
- Immunodeficiency and Autoimmune Disorders
- Liver Disease Diagnosis and Treatment
- Congenital Heart Disease Studies
- Immune Cell Function and Interaction
- Neurogenetic and Muscular Disorders Research
- Cardiomyopathy and Myosin Studies
- Systemic Lupus Erythematosus Research
- Pulmonary Hypertension Research and Treatments
- Hepatitis B Virus Studies
- Blood disorders and treatments
- Congenital heart defects research
- Diabetes and associated disorders
- Viral-associated cancers and disorders
- Lysosomal Storage Disorders Research
- Chronic Lymphocytic Leukemia Research
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Cellular Mechanics and Interactions
- Skin and Cellular Biology Research
- NF-κB Signaling Pathways
- Growth Hormone and Insulin-like Growth Factors
- Autoimmune Bullous Skin Diseases
- Trypanosoma species research and implications
- Health, Environment, Cognitive Aging
- Genetics and Neurodevelopmental Disorders
Cairo University
2015-2024
King Fahad Hospital Jeddah
2023
Children Cancer Hospital
2021
Abstract Background Inborn errors of immunity (IEI) are a group heterogeneous disorders with geographic and ethnic diversities. Although IEI common in Egypt, genetic diagnosis is limited due to financial restrictions. This study aims characterize the spectrum patients Egypt highlights adaptation molecular diagnostic methods resource-limited setting. Methods Genetic material from 504 was studied, proper achieved 282 246 families. Mutational analysis done by Sanger sequencing, next-generation...
Abstract Background Caspase recruitment domain family, member 11 (CARD11) is an important protein which plays a fundamental role in the activation of NF-κβ pathway lymphocytes. CARD11 deficiency can be inherited either autosomal dominant or recessive forms and present with different phenotypes including combined immunodeficiency, atopic dermatitis, other variable manifestations. The report describes clinical immunological defects two unrelated patients missense homozygous variants presenting...
This study aimed at evaluating possible associations of the single nucleotide polymorphism (SNP) in luteinizing hormone/choriogonadotropin receptor (LHCGR) gene G935A and polycystic ovary syndrome (PCOS) phenotype. The included 100 PCOS female patients 60 healthy control subjects. were recruited from Gynecology out-patient clinic, Kasr Al-Aini Hospital, Cairo University. All candidates underwent full history taking clinical examination with calculation body mass index. Serum EDTA samples...
Transcription factor 7-like 2 (TCF7L2) variants are known risk factors of type diabetes (T2DM).However, this association is not consistent among different populations. The current study aimed at investigating the relationship between rs 7903146, 12255372 TCF7L2 and susceptibility to T2DM metabolic parameters in a cohort Egyptian diabetic patients. This case control included 60 patients matched unrelated healthy controls. Genotyping was performed by using Real Time-PCR. frequency genotypes,...
We investigated the association of Osteopontin (OPN) (rs9138 and rs1126616) polymorphisms with colorectal cancer (CRC). One hundred CRC patients 112 healthy individuals were subjected to OPN genotyping measurement protein plasma level. The C allele rs1126616 CC haplotype significantly higher in patient (p = 0.036, 0.003, respectively). In females, rs9318 (A/C) polymorphism was associated increased risk 0.036). level >104.35 ng/mL CRC. Our findings suggest a significant role played by carcinogenesis.
Paediatric cardiomyopathy is a progressive, often lethal disorder and the most common cause of heart failure in children. Despite its severe outcomes, genetic aetiology still poorly characterised. High-throughput sequencing offers great opportunity for better understanding causes cardiomyopathy.The current study aimed to elucidate background Egyptian children.This hospital-based involved 68 patients; 58 idiopathic primary dilated 10 left ventricular noncompaction cardiomyopathy....
Abstract Background Human pegivirus (HPgV) is structurally similar to hepatitis C virus (HCV) and was discovered 20 years ago. Its distribution, natural history exact rule of this viral group in human hosts remain unclear. Our aim determine, by deep next-generation sequencing (NGS), the entire genome sequence HPgV that an Egyptian patient while analyzing HCV from same patient. We also inspected whether co-infection will affect response treatment. To best our knowledge, first report for a...
Dermatoses of pregnancy encompass a range skin disorders that manifest uniquely during the gestational period, characterized by significant itching. This review delves into four primary types: polymorphic eruption pregnancy, pemphigoid gestationis, atopic and intrahepatic cholestasis pregnancy. While are generally benign with no fetal impact, gestationis carry risks for fetus, including prematurity stillbirth. Key challenges include difficulty in early diagnosis due to its resemblance...
Tumor necrosis factor related apoptosis‐inducing ligand (TRAIL) plays an important role in many cancers including hepatocellular carcinoma (HCC). The aim of this study is to investigate the association DR4 polymorphisms C626G (Thr209Arg, rs20575) and A683C (Glu228Ala, rs20576) with occurrence HCC Egyptian patients chronically infected HCV. included 80 HCV‐related (group 1) liver cirrhosis 2) who are naïve treatment. Clinical laboratory data were recorded. Genotyping TRAIL receptor...
This study analyzes the changing levels of circulating inflammatory cytokines Interferon gamma (IFN-γ) and interleukin (IL)-10 (as main T-helper-1 T-helper-2 immune responses) in patients with chronic hepatitis C virus (HCV) infection undergoing therapy direct-acting antivirals (DAAs) to correlate them laboratory markers.This Pilot included 50 HCV monoinfected who received DAAs for 12 or 24 weeks. They were followed up monthly during 3 months after end treatment. Liver disease was determined...
Paediatric cardiomyopathy is a progressive and often lethal disorder the most common cause of heart failure in children. Despite their severe outcomes, genetic etiology still poorly characterised. The current study aimed at uncovering background idiopathic primary hypertrophic cohort Egyptian children using targeted next-generation sequencing. included 24 patients (15 males 9 females) presented to clinic Cairo University Children's Hospital with median age 2.75 (0.5-14) years. Consanguinity...
Activation-induced cytidine deaminase (AID) deficiency is a rare autosomal recessive inborn error of immunity (IEI) characterized by increased susceptibility to infections, autoimmunity, and/or autoinflammation. AID plays an important role in immunoglobulin class switching and somatic hypermutation. patients have very low or absent levels IgG, IgA, IgE, while IgM level elevated. The disease designated as type 2 hyperimmunoglobulin M syndrome (HIGM-2). To date, around 130 with HIGM-2 been...
Abstract Background Lysosomal acid lipase (LAL) deficiency is hyperinflammatory disease caused by the of enzyme which hydrolyzes cholesterol esters and triglycerides; thus, there pathologic accumulation in various tissues. Wolman (WD) cholesteryl ester storage (CESD) are two phenotypes same disorder with low or absent LAL activity. CESD has lower mortality presents hyperlipidemia, atherosclerosis, hepatic fibrosis, while WD classic presentations include hepatosplenomegaly, malabsorption,...
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
Idiopathic pulmonary fibrosis (IPF) is a specific form of chronic, progressively fibrosing idiopathic interstitial pneumonias (IIP), as the disease progress, patients become severely limited in their activity. Hypoxemia common finding IPF and may influence skeletal muscles homeostasis several ways by decreasing anabolic hormone level [insulin like growth factor-1 (ILGF-1)] with opposite effect on pro inflammatory cytokines interleukin-6 (IL-6). It has been speculated that peripheral muscle...
Background: B-type natriuretic peptide (BNP) it has been reported to be a useful biomarker for the severity of hemodynamically significant patent ductus arteriosus (HsPDA) in premature infants. Objective: To assess serum levels BNP neonates with echocardiographically-confirmed and non-significant PDA (HnsPDA) explore effect on left ventricular function. We also aimed detect level that differentiates between HsPDA HnsPDA. Patients methods: This was cross-sectional observational study...
Abstract Background Right ventricular (RV) mechanics are affected by volume/pressure overload in acute decompensated heart failure (ADHF) which can be detected using biomarkers and echocardiography. ST2 (suppression of tumorigenicity 2) is a biomarker myocardial fibrosis remodeling, that has been studied patients with ADHF. Although baseline serum soluble (sST2) values at ADHF admission have proved to predict outcomes, serial measurements even greater value. Purpose To evaluate the right...