UNSW Medicine

3 weeks ago | movementdisorders.onlinelibrary.wiley.com | Thomas Wirth |Kishore Kumar |UNSW Medicine |Michael Zech

Significant progress in genomic methodologies has led to the identification of a broad spectrum of genetic defects linked to dystonia.1 Current advances in sequencing approaches have improved our ability to uncover unique and recurrent variations underlying different dystonic syndromes, resulting in a growing catalog of molecularly defined monogenic entities.2 Despite this, at least half of patients with a suspected inherited form of dystonia remain undiagnosed.3 Broadly, conditions that...

Aug 13, 2024 | link.springer.com | UNSW Medicine

AbstractBronchial artery pseudoaneurysms (BAP) or aneurysms (BAA) are rare, potentially life-threatening and remain poorly understood. They are most commonly idiopathic but may be associated with a number of other disease processes. Bronchial artery embolisation (BAE) is considered the first line treatment while surgical techniques are reserved for patients with a clear contraindication to embolisation or where anatomical factors preclude an endovascular approach.

Aug 7, 2024 | onlinelibrary.wiley.com | Nicole Green |Christopher Chan |UNSW Medicine |Chee Y. Ooi

1 INTRODUCTION Cystic fibrosis (CF) is a heritable disease caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein.1 CFTR is expressed throughout the pancreatic duct, and hepatobiliary and gastrointestinal (GI) tracts, where dysfunction contributes to the altered intestinal environment and GI symptoms that represent a significant source of morbidity for people with CF (pwCF).

Jul 3, 2024 | onlinelibrary.wiley.com | UNSW Medicine |Dedee F. Murrell

• , , , , , , et al. Acceptability of and willingness to take digital pills by patients, the public, and health care professionals: qualitative content analysis of a large online survey . J Med Internet Res. ; ( ):e25597. • , . “Digital pills” for mental diseases: an ethical and social analysis of the issues behind the concept . J Law Biosci. ; ( ):lsaa040. • , , .

Apr 9, 2024 | link.springer.com | UNSW Medicine |UNSW Sydney

AbstractThe SIBS intervention aims to prevent mental health problems for siblings of children with chronic disorders and has shown promising results. The mechanisms behind these changes have not been examined. Parent-child relationship quality is a predictor of mental health in siblings. Our first objective was to investigate whether sibling-perceived relationship quality between siblings and parents changes over time after participating in SIBS.