Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.

How can more women with pre-existing type 1 and type 2 diabetes be supported to prepare for pregnancy after a baby loss? A qualitative exploration of lived experiences in the UK.

Objectives: Explore, understand and analyse how women with pre-existing diabetes can be better supported during the inter-pregnancy interval-the time after a baby loss and before a subsequent pregnancy.

Design: Qualitative, semi-structured online interviews took place between November 2020 and July 2021. Data were analysed using Reflexive Thematic Analysis.

Transitioning to high-sensitivity troponin: 1-year mortality outcomes in patients with suspected acute coronary syndrome presenting to emergency departments.

Background: Switching from a conventional to a high-sensitivity cardiac troponin (hs-cTn) assay enables detection of smaller amounts of myocardial damage, but the clinical benefit is unclear. We investigated whether switching to a hs-cTnI assay with a sex-specific 99th centile diagnostic threshold was associated with lower 1-year death or new myocardial infarction (MI) in patients with suspected acute coronary syndrome (ACS).

Methods: This pre-post study included nine tertiary hospitals in Australia.

Transcatheter vs Surgical Aortic Valve Replacement in Bicuspid Aortic Valves.

Background: Recent approval of transcatheter aortic valve replacement (TAVR) in patients at lower risk profiles has resulted in a real-world expansion in patients with bicuspid aortic valves (BAV), otherwise excluded from trials comparing TAVR with surgical aortic valve replacement (SAVR). This study compared perioperative and longitudinal outcomes between BAV patients undergoing TAVR vs SAVR.

Methods: Using the United States Centers for Medicare and Medicaid Services inpatient claims database, we evaluated all beneficiaries with BAV undergoing isolated SAVR or TAVR (2018-2022).

Exploration of fathers' mental health and well-being concerns during the transition to fatherhood, and paternal perinatal support: scoping review.

Objectives: To appraise and synthesise qualitative literature identifying: (a) fathers' concerns and challenges during the transition to fatherhood that may be impacting mental health and well-being experiences; and (b) fathers' experiences of antenatal programmes, and psychological and social support, to understand how we can better support fathers in addressing these concerns.

Design: International, qualitative evidence synthesis, scoping review.

Data Sources: Six electronic databases (Medline, Embase, PsycINFO, CINAHL, Scopus, ASSIA) alongside 'grey' and supplementary searches were conducted March 2024.