Publications by authors named "Sumit Jagani"

Background/objectives: Ataxia telangiectasia (A-T) is an inherited multisystem disorder with increased sensitivity to ionising radiation and elevated cancer risk. Although other cancer predisposition syndromes have established cancer screening protocols, evidence-based guidelines for cancer screening in A-T are lacking. This study sought to assess feasibility of a cancer screening protocol based on whole-body MRI (WB-MRI) in children and young people with A-T.

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Background/objectives: Ataxia telangiectasia (A-T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A-T. We aimed to understand the current international practice regarding cancer surveillance in A-T and agreed-upon approaches to develop cancer surveillance in A-T.

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Background/objectives: Ataxia-telangiectasia (A-T) is a complex inherited disease associated with an increased risk of malignancy. Surveillance guidelines have demonstrated significant health benefits in other cancer predisposition syndromes. However, evidence-based guidelines for cancer screening are not currently used in the United Kingdom for people affected by A-T.

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Acute pancreatitis is uncommon in childhood with an estimated incidence of approximately 1 in 10,000 children per year. It is an important condition, which may escape prompt diagnosis and is associated with significant morbidity and mortality. Most often, it will result in an acute hospital admission.

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Systemic connective tissue diseases (CTDs) are characterised by the presence of autoantibodies and multiorgan involvement. Although CTDs are rare in children, they are associated with pulmonary complications, which have a high morbidity and mortality rate. The exact pathophysiology remains unclear.

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