Publications by authors named "J J Bergin"
Article Synopsis
- - Myhre syndrome is a rare genetic disorder linked to mutations in the SMAD4 gene, with recent studies from Massachusetts General Hospital highlighting its complexities through evaluations of 47 patients.
- - The findings indicate that symptom progression occurs in all patients after at least 5 years of observation, with different SMAD4 variants associated with varying health outcomes, particularly regarding hearing loss and aortic hypoplasia.
- - There is a call for more research and evidence-based guidelines to improve understanding and treatment of Myhre syndrome, especially given the serious complications observed, including deaths related to cardiovascular issues.
Background: Heart Failure (HF) is associated with increased morbidity and mortality. Identification of patients at risk for adverse events could lead to improved outcomes. Few studies address the association of echocardiographic-derived PAWP with exercise capacity, readmissions, and mortality in HF.
View Article and Find Full Text PDFAmyloidosis can lead to cardiac, renal, and other multiorgan failure. New treatments have become available that can prolong survival but rely on early diagnosis. Manifestations of amyloidosis in hand surgery include carpal tunnel syndrome, trigger finger, peripheral neuropathy, and spontaneous distal biceps rupture.
View Article and Find Full Text PDFThe purpose of this study was to investigate dropout and continuation motives among boys in youth football. Semi-structured interviews were conducted with all players from a former football team, consisting of 13 young people who were 17 years old when the in-depth interviews were conducted. Short interviews with the same players five years earlier (at the age of 12) were also included as part of the data.
View Article and Find Full Text PDF