A5055408205- Inflammatory Bowel Disease
- Immunodeficiency and Autoimmune Disorders
- Microscopic Colitis
- Eosinophilic Esophagitis
- Gastrointestinal disorders and treatments
- Immune Cell Function and Interaction
- Autoimmune and Inflammatory Disorders
- Food Allergy and Anaphylaxis Research
- Autoimmune and Inflammatory Disorders Research
- Ectopic Pregnancy Diagnosis and Management
- Gut microbiota and health
- Pharmaceutical studies and practices
- Celiac Disease Research and Management
- Helicobacter pylori-related gastroenterology studies
- Clostridium difficile and Clostridium perfringens research
- Reproductive System and Pregnancy
- Gastrointestinal motility and disorders
- Lysosomal Storage Disorders Research
- Digestive system and related health
- Ocular Surface and Contact Lens
- Adolescent and Pediatric Healthcare
- Clinical Nutrition and Gastroenterology
- Intestinal and Peritoneal Adhesions
- Asthma and respiratory diseases
- Pregnancy-related medical research
Riyadh Armed Forces Hospital
2020-2024
Qatar Airways (Qatar)
2021-2024
Princess Nourah bint Abdulrahman University
2023
Sidra Medical and Research Center
2016-2022
Great Ormond Street Hospital
2006-2017
University College London
2006-2017
Great Ormond Street Hospital for Children NHS Foundation Trust
2014-2017
King Fahd Medical City
2006-2016
Boston Children's Hospital
2013
IRCCS Materno Infantile Burlo Garofolo
2009
Inflammatory bowel disease [IBD] presenting in early childhood is extremely rare. More recently, progress has been made to identify children with monogenic forms of IBD predominantly very life. In this study, we describe the heterogeneous phenotypes and genotypes patients before age 2 years establish phenotypic features associated underlying monogenicity.Phenotype data 62 onset over past 20 were reviewed. Children without previously established genetic diagnosis prospectively recruited for...
Early-onset inflammatory bowel disease starting within the first months of life could be due to a particular genetic defect. We set up GENetically determined ImmUne-mediated enteropathieS (GENIUS) network and collected infants with proven defect IL10 axis for accurate phenotyping presentation evolution.Ten patients early-onset confirmed mutations in IL10, IL10RA, or IL10RB genes were characterized on clinical, endoscopic-histological, immunobiological, radiological findings. Functional...
<h3>Background</h3> Multiple monogenetic conditions with partially overlapping phenotypes can present inflammatory bowel disease (IBD)-like intestinal inflammation. With novel genotype-specific therapies emerging, establishing a molecular diagnosis is becoming increasingly important. <h3>Design</h3> We have introduced targeted next-generation sequencing (NGS) technology as prospective screening tool in children very early onset IBD (VEOIBD). evaluated the coverage of 40 VEOIBD genes two...
Summary Background Aprepitant (Emend, Merck Sharp & Dohme Ltd, Haarlem, the Netherlands), a neurokinin‐1 receptor antagonist, prevents vomiting in range of conditions. No data are available on its use children with cyclical syndrome ( CVS ). Aim We investigated efficacy aprepitant as prophylactic treatment or acute intervention refractory to conventional therapies. Methods Forty‐one (median age: 8 years) fulfilling NASPGHAN criteria treated acutely (RegA) prophylactically (RegP) were...
Journal Article The use of sirolimus (rapamycin) in the management refractory inflammatory bowel disease children Get access Mohamed Mutalib, Mutalib 1Department Paediatric Gastroenterology, Great Ormond Street Hospital for Sick Children NHS Foundation Trust, United Kingdom *Corresponding author at: Department Street, London WC1N 3JH, Kingdom. Tel.: + 44 20 7405 9200; fax: 7813 8258. E-mail address:[email protected] (M. Mutalib). Search other works by this on: Oxford Academic PubMed Google...
Clostridium difficile infection (CDI) is the leading cause of hospital and community-acquired antibiotic-associated diarrhoea currently represents a significant health burden. Although role contribution C. toxins to disease pathogenesis being increasingly understood, at present other facets difficile-host interactions, in particular, bacterial-driven effects on host immunity remain less studied. Using an ex-vivo model infection, we report that human gastrointestinal mucosa elicits rapid...
Background Food protein induced gastrointestinal allergies are difficult to characterise due the delayed nature of this allergy and absence simple diagnostic tests. Diagnosis is based on an focused history which can be challenging often yields ambiguous results. We therefore set out describe a group children with type allergy, provide overview typical profile, symptoms management strategies.Methods This retrospective analysis was performed at Great Ormond Street Children’s Hospital. Medical...
Abstract Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis 3.5 years), whom no disorders were clinically suspected. In five detect primary immunodeficiency or enteropathy, clinical consequences ( XIAP, CYBA, SH2D1A, PCSK1 ). We also present case study VEO-IBD patient mosaic de novo, pathogenic allele...
Abstract Phosphatidylinositol 4-kinase IIIα (PI4KIIIα/PI4KA/OMIM:600286) is a lipid kinase generating phosphatidylinositol 4-phosphate (PI4P), membrane phospholipid with critical roles in the physiology of multiple cell types. PI4KIIIα’s role PI4P generation requires its assembly into heterotetrameric complex EFR3, TTC7 and FAM126. Sequence alterations two these molecular partners, (encoded by TTC7A or TCC7B) FAM126, have been associated heterogeneous group either neurological (FAM126A)...
Objectives To assess the effects of non-communicable diseases, such as diabetes, hypertension and obesity, on mother infant. Methods A multicentre cohort study was conducted in three hospitals city Riyadh Saudi Arabia. All women their babies who delivered participating were eligible for recruitment. Data socio-demographic characteristics addition to maternal neonatal outcomes pregnancy collected. The demographic profile recorded prevalence conditions including gestational pre-gestational...
Lower threshold and widening indications for paediatric gastrointestinal endoscopy have resulted in a significant increase the numbers of endoscopic procedures performed infants. Despite this, knowledge mucosal findings this age group is limited data on clinical usefulness are lacking.All children younger than 1 year referred to single tertiary gastroenterology unit during period June 1987 August 2007 who underwent were identified histological outcomes reviewed.A total 933 gastroesophageal...
Toll-like receptors (TLRs) mediate functions for host defense and inflammatory responses. TLR4 recognizes LPS, a component of gram-negative bacteria as well host-derived endogenous ligands such S100A8 S100A9 proteins.We sought to report phenotype cellular function individuals with complete deficiency.We performed genome sequencing investigated exome databases. Cellular responses were studied on primary monocytes, macrophages, neutrophils, cell lines using flow cytometry, reporter, cytokine...
The presence of extraintestinal manifestations (EIM) in children with gastrointestinal (GI) food allergy (GIFA) is greatly debated. In the present study we assessed prevalence EIM GIFA and investigated whether their helpful allergy-focused history-taking process.The medical records all a proven diagnosis were reviewed along those diagnosed as having inflammatory bowel disease (IBD) controls. Data regarding age at onset, diagnosis, atopic family history, comorbidities, GI symptoms,...