POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation.

While biallelic POLR3A loss-of-function variants are traditionally linked to hypomyelinating leukodystrophy, patients with a specific splice variant c.1909+22G>A manifest as adolescent-onset spastic ataxia without overt leukodystrophy. In this study, we reported eight new cases, POLR3A-related disorder with c.

New Cardiovascular Risk Assessment Techniques for Primary Prevention: JACC Review Topic of the Week.

Risk factor-based models fail to accurately estimate risk in select populations, in particular younger individuals. A sizable number of people are also classified as being at intermediate risk, for whom the optimal preventive strategy could be more precise. Several personalized risk prediction tools, including coronary artery calcium scoring, polygenic risk scores, and metabolic risk scores may be able to improve risk assessment, pending supportive outcome data from clinical trials.

Real world outcomes and implementation pathways of exome sequencing in an adult genetic department.

Purpose: This study aimed to correlate the indications and diagnostic yield of exome sequencing (ES) in adult patients across various clinical settings. The secondary aim was to examine the clinical utility of ES in adult patients.

Methods: Data on demographics, clinical indications, results, management changes, and cascade testing were collected for 250 consecutive patients who underwent ES through an adult genetics department between 2016 and 2021.

Use of coronary computed tomography or polygenic risk scores to prompt action to reduce coronary artery disease risk: the CAPAR-CAD trial.

Background: The traditional primary prevention paradigm for coronary artery disease (CAD) centers on population-based algorithms to classify individual risk. However, this approach often misclassifies individuals and leaves many in the 'intermediate' category, for whom there is no clear preferred prevention strategy. Coronary artery calcium (CAC) and polygenic risk scoring (PRS) are 2 contemporary tools for risk prediction to enhance the impact of effective management.

A homozygous truncating variant in GDF9 in siblings with primary ovarian insufficiency.

Premature or primary ovarian insufficiency (POI) affects approximately 1% of women and can be due to a variety of causes. Genetic causes include syndromic and non-syndromic POI. There are several promising candidate genes for whom a clear Mendelian association with non-syndromic POI has not yet been conclusively established, including GDF9.

Atrial fibrillation.

Background: Atrial fibrillation (AF) is increasingly common among Australia's ageing population and carries significant morbidity and mortality. Its detection through screening, cardiac device interrogation and/or symptoms of AF brings with it a number of significant clinical issues.

Objective: The aim of this article is to outline a systematic approach to the management of patients with AF, including the initial investigations required, rhythm versus rate control, anticoagulation for stroke prevention, and the interplay between AF and heart failure.

An unusual source of electromagnetic interference.

A 62-year-old male presented to his treating cardiologist for routine interrogation of his implantable cardiac defibrillator on the background of severe ischemic cardiomyopathy and end-stage kidney disease on hemodialysis. The device log revealed multiple paroxysms of atrial fibrillation; however, upon scrutinizing these episodes it was evident that they always corresponded to episodes of hemodialysis while dialyzing through a chronic dialysis catheter, but not while dialyzing via an arteriovenous fistula. We report the novel finding of inappropriate sensing of current leak from the catheter by a lead with a floating atrial dipole.

Percutaneous Coronary Intervention Using Drug-Eluting Stents Versus Coronary Artery Bypass Grafting for Unprotected Left Main Coronary Artery Stenosis: A Meta-Analysis of Randomized Trials.

Background: Current guidelines suggest that coronary artery bypass grafting (CABG) should be the preferred revascularization method for unprotected left main coronary artery stenosis. In light of evidence from recent randomized trials, we assessed whether percutaneous coronary intervention (PCI) using drug-eluting stents is as safe and effective as CABG for the treatment of unprotected left main coronary artery disease.

Methods And Results: Digital databases and manual searches were performed for randomized trials comparing PCI and CABG for unprotected left main coronary artery stenosis.

Intravascular ultrasound guidance improves clinical outcomes during implantation of both first- and second-generation drug-eluting stents: a meta-analysis.

Aims: Our aim was to assess whether intravascular ultrasound (IVUS) improves clinical outcomes during implantation of first- and second-generation drug-eluting stents (DES). IVUS guidance is associated with improved clinical outcomes during DES implantation, but it is unknown whether this benefit is limited to either first- or second-generation devices.

Methods And Results: MEDLINE, EMBASE and PubMed were searched for studies comparing outcomes between IVUS- and angiography-guided PCI.

How appropriately is blood ordered in a rural hospital?

Background: Blood products are a limited resource particularly in a rural setting and their appropriate use is important to maintain patient safety and minimise costs.

Objective: To assess the appropriateness of transfusion practices in a rural hospital. DESIGN/DATA SOURCES: A retrospective medical record audit of packed red blood cell (PRBC) use.