Publications by authors named "J Barwell"
Objectives: To report the long-term outcomes from a longitudinal psychosocial study that forms part of the 'Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted Screening in men at higher genetic risk and controls' (IMPACT) study. The IMPACT study is a multi-national study of targeted prostate cancer (PrCa) screening in individuals with a known germline pathogenic variant (GPV) in either the BReast CAncer gene 1 (BRCA1) or the BReast CAncer gene 2 (BRCA2).
Subjects And Methods: Participants enrolled in the IMPACT study were invited to complete a psychosocial questionnaire prior to each annual screening visit for a minimum of 5 years.
Introduction: Fragile X syndrome (FXS) is the most common inherited cause of Intellectual Disability. There is a broad phenotype that includes deficits in cognition and behavioral changes, alongside physical characteristics. Phenotype depends upon the level of mutation in the (fragile X messenger ribonucleoprotein 1) gene.
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- Cholesteatoma is a rare middle ear condition, categorized as acquired or congenital, that can lead to severe health issues like hearing loss and infections.
- This study examines a unique case of female identical twins who both developed congenital cholesteatomas, emphasizing their treatment and the underlying causes.
- After 15 years of follow-up post-surgery, the twins showed no signs of disease recurrence, marking a positive long-term outcome for this rare condition.
Background & Aims: Non-alcoholic fatty liver disease (NAFLD) is a complex trait with an estimated prevalence of 25% globally. We aimed to identify the genetic variant underlying a four-generation family with progressive NAFLD leading to cirrhosis, decompensation, and development of hepatocellular carcinoma in the absence of common risk factors such as obesity and type 2 diabetes.
Methods: Exome sequencing and genome comparisons were used to identify the likely causal variant.