Exploring peripheral fluid biomarkers for early detection of Alzheimer's disease in Down syndrome: A literature review.

People with Down Syndrome (DS) are at high risk of developing Alzheimer's disease dementia (AD) and cerebral amyloid angiopathy, which is a critical factor contributing to dementia in sporadic AD. Predicting and monitoring the decline and onset of dementia is a diagnostic challenge and of essence in daily care and support for people with DS. In this literature scoping review, we first summarize the different blood-based biomarkers for AD in DS.

'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.

Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy: The Phase 3b SMART Study.

Background And Objectives: Safety and efficacy of IV onasemnogene abeparvovec has been demonstrated for patients with spinal muscular atrophy (SMA) weighing <8.5 kg. SMART was the first clinical trial to evaluate onasemnogene abeparvovec for participants weighing 8.

Identification of a T2-hyperintense Perivascular Space in Brain Arteriovenous Malformations.

Background/aim: Brain arteriovenous malformations (AVMs) are vascular malformations characterized by dysmorphic, aberrant vasculature. During previous surgeries of compact nidus brain AVMs (representing the majority of cases), we have observed a "shiny" plane between nidal and perinidal AVM vessels and the surrounding grey and white matter and hypothesized that preoperative neuroimaging of brain AVMs may show a neuroradiological correlate of these intraoperative observations.

Patients And Methods: We retrospectively reviewed and analyzed multiplanar and multisequence 3-Tesla magnetic resonance (3T MR) imaging in five consecutive brain AVMs with special attention on imaging characteristics of the brain-AVM interface, i.

International consensus on research priorities in hypospadias using a Delphi study approach.

Introduction: Hypospadias is a common congenital anomaly of the male genitalia that poses significant management and treatment challenges. Gaining a comprehensive understanding of priority research questions in hypospadiology will be essential to reach agreement on the optimal approach to assessment, treatment, and outcome prediction for affected patients.

Methods: We employed a consensus-building Delphi method to identify and prioritize research questions in the hypospadias field.

Proteome profiling of cerebrospinal fluid using machine learning shows a unique protein signature associated with APOE4 genotype.

Proteome changes associated with APOE4 variant carriage that are independent of Alzheimer's disease (AD) pathology and diagnosis are unknown. This study investigated APOE4 proteome changes in people with AD, mild cognitive impairment, and no impairment. Clinical, APOE genotype, and cerebrospinal fluid (CSF) proteome and AD biomarker data was sourced from the Alzheimer's Disease Neuroimaging Initiative (ADNI) database.

A retrospective review of sildenafil in the Australia and New Zealand Fontan registry: indications and treatment responses.

Introduction: Rates of morbidity and mortality are high in the setting of Fontan physiology and effective medical therapies are not well-established. Clinical trials assessing phosophodiesterase-5-inhibitors, such as sildenafil, have not demonstrated major benefit in patients with a Fontan-type circulation but have only included stable, well-functioning people.

Methods: We sought to retrospectively characterize the people followed by the ANZ Fontan Registry prescribed sildenafil >30 days post Fontan-surgery.

A national Australian Congenital Heart Disease registry; methods and initial results.

Background: Although several National Data Registries for Congenital Heart Disease (CHD) exist, few are comprehensive and contemporary. A National Australian CHD Registry has been developed that aims to redress this by creating the first comprehensive data collection for CHD children and adults, initially across Australia.

Methods: We defined and collected a minimum dataset of demographics, diagnoses, and procedures from people with CHD presenting at participating quaternary CHD services Australia-wide.

Spiritual care in palliative medicine: interactive, virtual workshop for specialists.

Background: Spiritual pain and distress are commonly unrecognised among patients receiving palliative care, yet engaging with a person's spirituality can allow healing to occur even amid suffering. Palliative care clinicians lack training in assessing and managing spiritual distress among patients.

Objectives: Development of a virtually delivered spirituality workshop to improve clinicians' understanding of their own spirituality and confidence in addressing the spiritual dimension of patients' experience.

Evaluation of the Queensland JEV vaccine program response to the 2022 Australian outbreak.

In 2022, the largest ever virgin soil outbreak of Japanese encephalitis (JE) occurred in Australia resulting in 45 reported human cases of JE, with seven fatalities. Japanese encephalitis virus (JEV) was detected in 84 piggeries across Australia. In response, states implemented targeted vaccination programs for those individuals at the highest risk of JEV exposure.

Glucocorticoid dosing and implications for vaccination: Evolution of global definitions.

Despite widespread adoption of "high-dose" glucocorticoid definitions across international immunisation guidelines (i.e., prednisone-equivalent dosing >20 mg/day, or >2 mg/kg/day in children), the rationale remains unclear.

A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.

Purpose: The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics to resolve variants of uncertain significance (VUS) in the clinical management of patients and families with cardiomyopathies, primary arrhythmias, and congenital heart disease (CHD).

Methods: Between April 2019 and December 2021, 600 probands meeting cardiovascular disorder criteria from 17 cardiology and genetics clinics across Australia were enrolled in the Flagship and underwent GS.

Defining a core set of research and development priorities for virtual care in the post-pandemic environment: a call to action.

Objectives: To identify research and development priorities for virtual care following the coronavirus disease 2019 pandemic from the perspective of key stakeholders (patients, clinicians, informaticians and academics).

Design: Qualitative study using a modified nominal group technique.

Setting: Online semi-structured interviews and workshops held in November 2022 and February 2023.

Road to Tokyo Paralympic Games: Impact of the COVID-19 Pandemic on the Mood States of Brazilian Para Athletes.

Context: The COVID-19 pandemic had a significant impact on the world of sports due to the imposed quarantine and the postponement of regional, national, and international sporting events, which affected physical, socioeconomic, and psychological aspects of athletes. Thus, the present study aimed to evaluate changes in the mood state profile of Brazilian Para athletes at 2 different time points during the COVID-19 pandemic, specifically during their qualification for the Tokyo Paralympic Games.

Design: This study used a longitudinal study design.

Identification of a 5-Plex Cytokine Signature that Differentiates Patients with Multiple Systemic Inflammatory Diseases.

Patients with non-infectious systemic inflammation may suffer from one of many diseases, including hyperinflammation (HI), autoinflammatory disorders (AID), and systemic autoimmune disease (AI). Despite their clinical overlap, the pathophysiology and patient management differ between these disorders. We aimed to investigate blood biomarkers able to discriminate between patient groups.

Codesign and evaluation of advanced therapeutic information resources for and with families of children with neurological conditions: a mixed methods cross-sectional study.

Objective: Parents and caregivers of children with neurological conditions express interest in new and developing treatments and trials; however, they have limited knowledge of, and access to, reliable information. This study aims to empower and equip decision-making and support communication in the application of advanced neurotherapeutics and personalised medicine, covering gene therapy, stem cell therapy, neurostimulation and neuroimmunotherapies.

Design: A suite of online psychoeducational resources has been created and evaluated to establish implementation success.

Strategies to Overcome Barriers to Physical Activity Participation in Children and Adults Living With Congenital Heart Disease: A Narrative Review.

Physical activity participation is critical for optimal physical, psychological, and cognitive health in children and adults living with congenital heart disease (CHD). Majority of the general population are not sufficiently active, and with the added psychological, physical, and socioeconomic barriers faced by individuals with CHD, it is unsurprising that many people living with CHD do not meet the recommendations for physical activity either. The aim of this review is to outline lifelong physical activity barriers faced by individuals living with CHD and provide age-appropriate strategies that can be used to ensure the development of long-term positive physical activity behaviours.

A single risk assessment for the most common diseases of ageing, developed and validated on 10 cohort studies.

Background: We aimed to develop risk tools for dementia, stroke, myocardial infarction (MI), and diabetes, for adults aged ≥ 65 years using shared risk factors.

Methods: Data were obtained from 10 population-based cohorts (N = 41,755) with median follow-up time (years) for dementia, stroke, MI, and diabetes of 6.2, 7.

Healing grief: Insights from relatives of cancer patients with prolonged grief. The FamiLife multicenter qualitative study.

Background: Prolonged grief is a chronic and debilitating condition that affects millions of persons worldwide. The aim of this study was to use a qualitative approach to better understand how relatives with prolonged grief disorder perceive what does or not help them and whether they were able to make recommendations.

Methods: Participants were all relatives of deceased patients admitted to 26 palliative care units involved in the FamiLife study; relatives were included if diagnosed with prolonged grief symptoms (i.

Predictors of school attendance among children with cerebral palsy in Bangladesh.

Aim: To determine school attendance and its predictors among children with cerebral palsy (CP) in Bangladesh using population-based data.

Method: This study utilized data from the Bangladesh Cerebral Palsy Register (BCPR), a population-based register of children with CP aged less than 18 years in Bangladesh. Sociodemographic, clinical, and educational data were documented, and descriptive statistics and multivariate regression analyses were used to identify potential predictors of school attendance.