Patient preference of level I, II and III sleep diagnostic tests to diagnose obstructive sleep apnoea among pregnant women in early to mid-gestation.

Purpose: There is a paucity of data on preferences for obstructive sleep apnoea (OSA) diagnostic tests during pregnancy. Simple test completion rates fail to capture patient preference or experience of completing sleep diagnostic tests. We assessed preference, ease of use, convenience, and the repeatability of level I, II and III sleep diagnostic tests, using questionnaires, in pregnant women in early to mid-gestation.

Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023.

The KidGen Collaborative's Policy Implementation Workshop 2023 celebrated the 10th anniversary of Australia's first kidney genetics clinic in Brisbane. This event marked the establishment of a national network now comprising 19 kidney genetics clinics across Australia, all dedicated to providing equitable access to genomic testing for families affected by genetic kidney diseases. The workshop reflected on past progress and outlined future objectives for kidney genetics in Australia, recognising the collaborative efforts of clinical teams, researchers, and patients.

Insights from a 10-year Australasian idiopathic hypersomnia patient data registry study.

Study Objectives: Idiopathic hypersomnia (IH) is a disorder of central hypersomnolence that results in excessive daytime sleepiness in the absence of another identifying cause. Case studies from sleep clinic patients may not be a fair representation of the wider IH population. This study aims to better characterize patients diagnosed with IH in Australia and New Zealand using online patient-driven survey data.

Blood pressure response to graded bicycle exercise in males and females across the age and fitness spectrum.

Aims: Blood pressure (BP) responses to exercise are frequently measured, with the concern that greater increases are a marker of disease. We sought to characterize the normal exercise BP response in healthy adults and its relationships with age, sex, and fitness.

Methods And Results: Five hundred and eighty-nine participants [median age 46 (interquartile range 24-56) years, 81% male] underwent cardiopulmonary exercise testing with repeated, automated BP measures.

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

Background: Significant recent efforts have facilitated increased access to clinical genetics assessment and genomic sequencing for children with rare diseases in many centres, but there remains a service gap for adults. The Austin Health Adult Undiagnosed Disease Program (AHA-UDP) was designed to complement existing UDP programs that focus on paediatric rare diseases and address an area of unmet diagnostic need for adults with undiagnosed rare conditions in Victoria, Australia. It was conducted at a large Victorian hospital to demonstrate the benefits of bringing genomic techniques currently used predominantly in a research setting into hospital clinical practice, and identify the benefits of enrolling adults with undiagnosed rare diseases into a UDP program.

Digital epidemiology: harnessing big data for early detection and monitoring of viral outbreaks.

Digital epidemiology is the process of investigating the dynamics of disease-related patterns, both social and clinical, as well as the causes of these trends in epidemiology. Digital epidemiology, utilising big data from a variety of digital sources, has emerged as a viable method for early detection and monitoring of viral outbreaks. The present review gives an overview of digital epidemiology, emphasising its importance in the timely detection of infectious disease outbreaks.

Steroidomics-Based Screening for Primary Aldosteronism: Impact of antihypertensive Drugs.

Background: Diagnosis of primary aldosteronism (PA) is complicated by the need to withdraw antihypertensive medications that interfere with test results, particularly renin. This study examined whether machine learning-based steroid-probability scores offer a renin measurement-independent approach for testing less prone to interference than the aldosterone-to-renin ratio (ARR).

Methods: This prospective multicenter cohort study involved the use of plasma steroidomics and the ARR in 839 patients tested for PA, including 190 with and 578 without PA (71 indeterminate).

Circulating Lipid Profiles Associated With Resistance to Androgen Deprivation Therapy in Localized Prostate Cancer.

Purpose: Intense androgen deprivation therapy (ADT) with androgen receptor pathway inhibitors (ARPIs) before radical prostatectomy (RP) produced favorable pathologic responses in approximately 20% of patients. The molecular reason for the low rate of response remains unclear. Lipid metabolism is known to influence androgen receptor signaling and ARPI efficacy.

Lipidomic Risk Score to Enhance Cardiovascular Risk Stratification for Primary Prevention.

Background: Accurate risk stratification is vital for primary prevention of cardiovascular disease (CVD). However, traditional tools such as the Framingham Risk Score (FRS) may underperform within the diverse intermediate-risk group, which includes individuals requiring distinct management strategies.

Objectives: This study aimed to develop a lipidomic-enhanced risk score (LRS), specifically targeting risk prediction and reclassification within the intermediate group, benchmarked against the FRS.

Environmental Determinants of Islet Autoimmunity (ENDIA) longitudinal prospective pregnancy to childhood cohort study of Australian children at risk of type 1 diabetes: parental demographics and birth information.

Introduction: The Environmental Determinants of Islet Autoimmunity (ENDIA) Study is an ongoing Australian prospective cohort study investigating how modifiable prenatal and early-life exposures drive the development of islet autoimmunity and type 1 diabetes (T1D) in children. In this profile, we describe the cohort's parental demographics, maternal and neonatal outcomes and human leukocyte antigen (HLA) genotypes.

Research Design And Methods: Inclusion criteria were an unborn child, or infant aged less than 6 months, with a first-degree relative (FDR) with T1D.

Refractory Hypercalcemia Secondary to Metastatic Parathyroid Carcinoma Treated With Immunotherapy.

Parathyroid carcinoma (PC) is a rare endocrine malignancy and an uncommon cause of primary hyperparathyroidism. Metastatic disease confers a guarded prognosis with limited systemic treatment options available. We describe a case of a 64-year-old woman with primary hyperparathyroidism secondary to PC.

Hypercapnia is not excluded by normoxia in neuromuscular disease patients: implications for oximetry.

Background: Pulse oximetry is widely used in the assessment of chronic respiratory failure in neuromuscular disease (NMD) patients. Chronic respiratory failure is the major cause of morbidity and mortality, necessitating early diagnosis and intervention. Guidelines suggest that an arterial blood gas (ABG) measurement is indicated if oxygen saturation ( ) is ≤94% in the absence of lung disease.

The role of genetic testing in management and prognosis of individuals with inherited cardiomyopathies.

Inherited cardiomyopathies are a heterogeneous group of heart muscle conditions where disease classification has traditionally been based on clinical characteristics. However, this does not always align with genotype. While there are well described challenges of genetic testing, understanding the role of genotype in patient management is increasingly required.