Nadeem Ahmad Afzal

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BACKGROUND Multiple genes have been implicated by association studies in altering inflammatory bowel disease (IBD) predisposition. Paediatric patients often manifest more extensive disease and a particularly severe disease course. It is likely that genetic predisposition plays a more substantial role in this group. OBJECTIVE To identify the spectrum of(More)
BACKGROUND Pediatric Inflammatory Bowel Disease (PIBD) is a chronic condition seen in genetically predisposed individuals. Genome-wide association studies have implicated >160 genomic loci in IBD with many genes coding for proteins in key immune pathways. This study looks at autoimmune disease burden in patients diagnosed with PIBD and interrogates exome(More)
Examination of the upper gastrointestinal tract by a standard endoscope is often thought as a daunting experience to many who have undertaken or are about to undergo the procedure. The overall perceived size of the gastroscope, unpleasantness of stimulation of the gag reflex and the need often for sedation is discouraging to many. A method to visualise the(More)
BACKGROUND Inflammatory bowel disease (IBD) is a chronic, relapsing inflammatory disease of the gastrointestinal tract which includes ulcerative colitis and Crohn's disease. Genetic risk factors for IBD are not well understood. METHODS We performed a family-based whole exome sequencing (WES) analysis on a core family (Family A) to identify potential(More)
The aim of our study was to assess the utility of next generation sequencing (NGS) for predicting toxicity and clinical response to thiopurine drugs in paediatric patients with inflammatory bowel disease. Exome data for 100 patients were assessed against biochemically measured TPMT enzyme activity, clinical response and adverse effects. The TPMT gene and a(More)
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