Family planning and preimplantation testing: family experiences in congenital adrenal hyperplasia.

Introduction: Pre-implantation testing (PGT) is often suggested by healthcare professionals (HCP) to parents of children with congenital adrenal hyperplasia (CAH) considering subsequent children. Despite this, some families choose to conceive naturally without genetic testing and intervention. The aims of this study were to explore fertility choices of couples with a child with CAH and the decision making process and perceptions behind these choices, and to explore the families' lived experiences with CAH and the couples' subsequent fertility journey.

Health literacy and medication adherence in adults from ethnic minority backgrounds with Type 2 Diabetes Mellitus: a systematic review.

Background: For people living with Type 2 Diabetes Mellitus (T2DM), achieving optimal health outcomes requires optimal self-management and adherence to medical treatment. While some studies suggest an association between poor medication adherence and lower levels of health literacy, the evidence for this association remains inconclusive. This systematic review aimed to synthesise the evidence on the association between health literacy and medication adherence among adults from ethnic minority backgrounds living with T2DM.

'Fighting every day': exploring caregiver quality of life and perspectives on healthcare services for children with dementia - a cross-sectional, mixed-methods study.

Objective: To explore quality of life outcomes for caregivers of children with childhood dementia including the positive and negative impact of caregiving. The secondary aim was to explore caregivers' perspectives on healthcare services for children with dementia.

Design: Cross-sectional, mixed-methods study with analyses of quantitative and qualitative data collected via online survey.

Circulating lipocalin-2 across the adult lifespan.

Lipocalin-2 (LCN2), a hormone produced by adipocytes, osteoblasts, and renal tubular cells, is implicated in age-related diseases, including cardio-metabolic disease. To understand the role LCN2 may play in pathological states, we first need to elucidate the relationship between circulating LCN2 with indices of cardio-metabolic health during "normal" aging. This study examined the relationship between serum levels of LCN2, age, and cardio-metabolic measures across the adult lifespan in males and females.

Increasing Use of Antenatal Magnesium Sulphate Prior to Preterm Birth for Preventing Cerebral Palsy in Australia and New Zealand, 2012-2020: A Binational Registry Study.

We assessed the use of magnesium sulphate prior to preterm birth for preventing cerebral palsy in an Australian and New Zealand registry study. Use increased markedly from 32.3% (2012) to 78.

Hardy-Rand-Rittler colour vision testing in cone and cone-rod dystrophies: correlation with structural and functional outcome measures.

Purpose: To determine how Hardy-Rand-Rittler (HRR) colour vision testing correlates with visual functional and structural assessments in Cone and Cone-Rod Dystrophy.

Methods: Thirty-four Cone and 69 Cone-Rod Dystrophy patients diagnosed by electroretinography (ERG) at the Save Sight Institute in Sydney were included in a retrospective analysis. Each patient's HRR colour vision test scores were compared with markers of cone and rod system function including visual acuity (VA), ERG responses, changes on Spectral Domain Optical Coherence Tomography (OCT) and Fundus Autofluorescence.

Antibody responses against influenza A decline with successive years of annual influenza vaccination.

Influenza vaccine effectiveness and immunogenicity can be compromised with repeated vaccination. We assessed immunological markers in a cohort of healthcare workers (HCW) from six public hospitals around Australia during 2020-2021. Sera were collected pre-vaccination and ~14 and ~180 days post-vaccination and assessed in haemagglutination inhibition assay against egg-grown vaccine and equivalent cell-grown viruses.

Executive function is associated with behaviour problems in children and adolescents with cerebral palsy and intellectual disability.

Background: Children and adolescents with cerebral palsy (CP) commonly have behaviour problems. The present study aimed to determine which of the most common clinical features experienced by children and adolescents with CP and intellectual disability are associated with behaviour problems.

Method: We investigated 11 possible associated variables including epilepsy, visual and hearing impairments, motor difficulties, communication and speech difficulties, pain, sleep disturbance, executive function (EF) deficits, type of CP, and parent stress.

Sitosterolemia-An Underdiagnosed and Heterogeneous Lipid Disorder. A Case Series From a Tertiary Care Centre in Australia.

Aims: Sitosterolemia, is a disorder of increased plant sterol levels leading to a variable presentation and haematological manifestations. Although considered rare, the prevalence is likely underestimated due to the variable phenotype and challenges in diagnosis. The delayed diagnosis may lead to cardiovascular complications.

Updates on neonatal cell and novel therapeutics: Proceedings of the Second Neonatal Cell Therapies Symposium (2024).

Cell therapies as treatments for neonatal conditions have attracted significant research and parent interest over the last two decades. Mesenchymal stromal cells, umbilical cord blood cells and neural stem cells translate from lab, to preclinical and into clinical trials, with contributions being made from all over the world. Effective and timely translation involves frequent reflection and consultation from research-adjacent fields (i.

Exploring the use and usefulness of living guidelines for consumers: international online survey of patients' and carers' views.

Background: Living guidelines contain continually updated, and potentially changing, clinical recommendations. The implications of living guidelines for consumers (e.g.

Patient-reported outcome measures for life participation in patients with chronic kidney disease: a systematic review.

Background: The symptoms, comorbidities and treatment burden associated with chronic kidney disease (CKD) can be debilitating and limit life participation in patients with CKD not requiring kidney replacement therapy (KRT). The aim of this study was to identify the characteristics, content and psychometric properties of patient-reported outcome measures (PROMs) used to assess life participation in patients with CKD.

Methods: We searched MEDLINE, Embase, PsycINFO and CINAHL from database inception to February 2023 for all studies that reported life participation in patients with CKD (stages 1-5 not requiring kidney replacement therapy).

Baseline Characteristics of Frailty and Disease Stage in Older People Living With CKD.

Introduction: The GOAL trial, a cluster randomized controlled trial, investigated the effect of comprehensive geriatric assessment (CGA) on frail older people with chronic kidney disease (CKD). This paper describes the following: (i) participant baseline characteristics, and (ii) their relationship with CKD stage and frailty severity.

Methods: Sixteen kidney outpatient clinics (clusters) were randomly allocated 1:1 to CGA or usual care.

A review of imaging in the diagnosis and management of complicated paediatric pneumonia.

Paediatric pneumonia and its complications present substantial health and economic challenges. While chest radiographs are commonly used as the initial imaging modality for diagnosing uncomplicated pneumonia, they are less effective for complicated cases. In response, various imaging techniques, such as lung ultrasound, computed tomography (CT), and chest MRI, have been integrated into clinical practice to enhance diagnosis and guide management decisions.

Pre-emptive treatment for cytomegalovirus viraemia to prevent cytomegalovirus disease in solid organ transplant recipients.

Background: Cytomegalovirus (CMV) is a significant cause of morbidity and death in solid organ transplant recipients. Pre-emptive treatment of patients with CMV viraemia using antiviral agents has been suggested as an alternative to routine prophylaxis to prevent CMV disease. This is an update of a Cochrane review first published in 2006 and updated in 2013.

Clinical practices on acute acquired comitant esotropia: A consensus statement proposed by the Council of Asia-Pacific Strabismus and Pediatric Ophthalmology Society.

Acute acquired comitant esotropia (AACE) is a concomitant strabismus characterized by sudden onset, mostly associated with diplopia. The prevalence of AACE has significantly increased, and various management approaches have been recommended in recent years. This study by the Council of Asia-Pacific Strabismus and Pediatric Ophthalmology Society aimed to provide an overview of the clinical features, etiology and the nonsurgical and surgical treatment recommendations for the condition to equip strabismus specialists with the most updated knowledge.

Protracted Tuberculosis Outbreak in a Pasifika Diaspora in Western Sydney, Australia: The Importance of Community Engagement.

A prolonged tuberculosis outbreak, linked by whole-genome sequencing, occurred in a Pasifika extended family over 10 years (2013-2022) in Sydney, Australia. Despite Australia's low tuberculosis incidence, social and cultural complexities, and coronavirus disease 2019 (COVID-19) disruptions exacerbated transmission. Control required culturally sensitive, family-centered care and robust health system engagement.

Microdissection of Distinct Morphological Regions Within Uveal Melanomas Identifies Novel Drug Targets.

: Uveal melanomas (UMs) are rare but often deadly malignancies that urgently require viable treatment options. UMs often exhibit tumour heterogeneity, with macroscopic and microscopic differences in morphology between different regions of the same tumour. However, to date, the clinical significance of this and how it may help guide personalised therapy have not been realised.

Surgeons' views on hypospadias care journey: A qualitative study.

Background: Three major parties are involved in the hypospadias treatment journey - the patient, their parents/carers, and the surgeon. There is a strong trend towards involving all three, where possible, in deriving evidence around the care pathways. Currently, there are little data available on surgeons' perspectives of distal hypospadias care.

Current trends in intraoperative neurophysiological monitoring among Asia-Pacific countries: an Asia-Pacific Spine Society survey.

Study Design: A prospective web-based survey.

Purpose: Although intraoperative neurophysiological monitoring (IONM) is critical in spine surgery, its usage is largely based on the surgeon's discretion, and studies on its usage trends in Asia-Pacific countries are lacking. This study aimed to examine current trends in IONM usage in Asia-Pacific countries.

Automated abdominal aortic calcification and major adverse cardiovascular events in people undergoing osteoporosis screening: the Manitoba Bone Mineral Density Registry.

Vertebral fracture assessment (VFA) images from bone density machines enable the automated machine learning assessment of abdominal aortic calcification (ML-AAC), a marker of cardiovascular disease (CVD) risk. The objective of this study was to describe the risk of a major adverse cardiovascular event (MACE, from linked health records) in patients attending routine bone mineral density (BMD) testing and meeting specific criteria based on age, BMD, height loss, or glucocorticoid use have a VFA in the Manitoba Bone Mineral Density Registry. The cohort included 10 250 individuals (mean 75.

Phenotype Spectrum of TRPM3-Associated Disorders.

Objective: Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited. We characterized the clinical spectrum, highlighting particularly the epilepsy phenotype, and the effect of treatments.

Methods: We analyzed retrospectively the phenotypes and genotypes of 43 individuals with TRPM3 variants, acquired from GeneMatcher and collaborations (n = 21), and through a systematic literature search (n = 22).