Wael El-Matary

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Mutations in CCBE1 have been found to be responsible for a subset of families with autosomal recessive Hennekam syndrome. Hennekam syndrome is defined as the combination of generalized lymphatic dysplasia (ie. lymphedema and lymphangiectasia), variable intellectual disability and characteristic dysmorphic features. The patient we describe here has a(More)
Objectives. To determine the relationship between fecal calprotectin (FCAL) and imaging studies and other biochemical inflammatory markers and the impact of FCAL measurements on decision-making in IBD patient management in usual clinical practice. Methods. 240 persons with IBD were enrolled. The correlation between FCAL values and other markers for disease(More)
Celiac disease (CD) is a common autoimmune enteropathy that occurs, in affected individuals, with exposure to gluten in the diet and improves with removal of dietary gluten. Although CD is readily considered in patients with classical presentations of the disease, atypical manifestations may be the only presenting symptoms. We present a case of CD in a(More)
BACKGROUND The aim of this paper was to examine the prevalence of immune-related disorders in families of children with inflammatory bowel disease (IBD) compared to those without IBD. METHODS Children ≤18 years of age presenting to the IBD clinic between September 2007 and August 2009 with an established diagnosis of IBD were recruited. Age and sex(More)
BACKGROUND The use of fecal calprotectin (FCal) as a marker of intestinal inflammation, in the management of inflammatory bowel disease (IBD) is increasing. The aim of this study was to examine the impact of FCal measurements on decision-making and clinical care of children with IBD. MATERIALS AND METHODS In a retrospective cohort study, FCal, clinical(More)
Gaucher disease (OMIM #230800) is caused by β-glucosidase deficiency and primarily involves the mononuclear phagocyte system (also called Reticuloendothelial System or Macrophage System). The disease is classified into three main phenotypes based on the presence or absence of neurological manifestations: non-neuronopathic (type 1), acute neuronopathic (type(More)
BACKGROUND Anatomical progression of pediatric inflammatory bowel disease is under-reported. The aim of this work was to examine possible changes in the anatomical distribution of IBD in pediatric patients at diagnosis and at follow up. METHODS In a retrospective cohort study, the medical records of children with inflammatory bowel disease were examined.(More)
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