Publications by authors named "J Nicholl"
BRCA-1-associated protein-1 (BAP1) tumour predisposition syndrome (BAP1-TPDS) is a dominant hereditary cancer syndrome. The full spectrum of associated malignancies is yet to be fully characterised. We detail the phenotypic features of the first reported family with a whole BAP1 gene deletion.
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- * In a study of 58 individuals from 44 families, genetic testing achieved a likely diagnosis in 70.5% of cases, especially among those with a family history or previous corneal graft surgery.
- * The research also uncovered eight new gene variants and five families with syndromic conditions related to corneal dystrophies, emphasizing the importance of genetic testing for better clinical outcomes.
Objectives: To explore what impact introducing the National Health Service (NHS) 111 online service had on the number of phone calls to the NHS 111 telephone service and the NHS urgent care system.
Design: Observational study using a dose-response interrupted time series model and random-effects meta- analysis to estimate the average effect.
Setting And Participants: NHS 111 telephone and online contacts for 18 NHS 111 area codes in England.
Background: Infective endocarditis is a heart infection with a first-year mortality rate of ≈ 30%. It has long been thought that infective endocarditis is causally associated with bloodstream seeding with oral bacteria in ≈ 40-45% of cases. This theorem led guideline committees to recommend that individuals at increased risk of infective endocarditis should receive antibiotic prophylaxis before undergoing invasive dental procedures.
View Article and Find Full Text PDFImportance: Dentists in the United States are under pressure from orthopedic surgeons and their patients with prosthetic joints to provide antibiotic prophylaxis before invasive dental procedures (IDP) to reduce the risk of late prosthetic joint infection (LPJI). This has been a common practice for decades, despite a lack of evidence for an association between IDP and LPJI, a lack of evidence of antibiotic prophylaxis efficacy, cost of providing antibiotic prophylaxis, and risk of both adverse drug reactions and the potential for promoting antibiotic resistance.
Objective: To quantify any temporal association between IDP and subsequent LPJI.