Segmental MRI pituitary and hypothalamus volumes post Fontan: An analysis of the Australian and New Zealand Fontan registry.

Objective: Short stature, central hypothyroidism and infertility are common in those with a Fontan circulation. Given that the Fontan circulation often results in hepatic portal venous congestion, we hypothesize that the hypothalamic-pituitary portal circulation is also affected, contributing to subsequent hypothalamic-pituitary axis dysfunction.

Methods: MRI data from the Australian and New Zealand Fontan Registry (86 cases) was compared to 86 age- and sex-matched normal published controls.

Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program.

Genetic counselors (GCs) face unique challenges in the acute care setting. Acute care environments-such as neonatal and pediatric intensive care units-are characterized by urgency, complexity, and rapid decision making. These settings require GCs to navigate a delicate balance between addressing the immediate clinical needs of patients and providing comprehensive genetic information to families, while demanding adaptation of existing skills for practice.

A mixed-methods assessment of the Australasian Society of Genetic Counselors (ASGC) Mentor Program.

Purpose: In Australia and New Zealand, one third of genetic counselors have less than 5 years' experience. Sharing experienced practitioners' professional knowledge is needed as the profession grows. Formal mentoring is an important facilitator of career progression and shared knowledge.

Genetic counseling workforce diversity, inclusion, and capacity in Australia and New Zealand.

Purpose: To understand diversity, inclusion, and capacity of genetic counselors (GCs) in Australasia (Australia and New Zealand).

Methods: Individuals with or working toward a GC qualification in Australasia were invited to complete an online survey, between November 2022 and March 2023. Quantitative data were analyzed using descriptive statistics, 1-sample proportion -tests, 2-sample -tests, and χ tests.

Measuring factors associated with telehealth use by people who use mental health services: A psychometric analysis of a theoretical domains framework questionnaire.

Introduction: Telehealth has the potential to improve access to mental health care, especially for people living in rural and remote regions. Yet, telehealth accessibility remains a challenge in Australia, and there is a scarcity of appropriate, psychometrically sound tools for evaluating telehealth use by mental health service users. The aim of this study was to adapt and validate a scale for measuring factors associated with mental healthcare telehealth use.

Systematic Review and Meta-Analysis: Attention-Deficit/Hyperactivity Disorder Symptoms in Children With Neurofibromatosis Type 1.

Objective: This meta-analysis aimed to robustly estimate differences in attention-deficit/hyperactivity disorder (ADHD) symptoms between children and adolescents with and without neurofibromatosis type 1 (NF1).

Method: Systematic literature searches were conducted in Scopus, PsycINFO, Web of Science, PubMed, and ProQuest in September 2022 with a supplemental search conducted in Google Scholar in February 2023. The searches identified 2153 unique articles.

The use of antibiotics in the management of odontogenic facial swellings in children and adolescents: A scoping review.

Objectives: To identify evidence and guidelines relating to the use of antibiotics in the management of odontogenic facial swellings in children and adolescents.

Data: Articles relating to odontogenic facial swellings in children and adolescents aged 0-16 years were included. Articles in which paediatric data could not be differentiated from adult data or where the age of participants were unknown were excluded.

CBL0137 and NKG2A blockade: a novel immuno-oncology combination therapy for Myc-overexpressing triple-negative breast cancers.

The MYC proto-oncogene is upregulated in >60% of triple-negative breast cancers (TNBCs), it can directly promote tumor cell proliferation, and its overexpression negatively regulates anti-tumor immune responses. For all these reasons, MYC has long been considered as a compelling therapeutic target. However, pharmacological inhibition of MYC function has proven difficult due to a lack of a drug-binding pocket.

Systematic review of the impact of intestinal microbiota on vaccine responses.

The intestinal microbiota plays a critical role in host immunity and might contribute to the significant variation between individuals' vaccine responses. A systematic search was done using MEDLINE and Embase to identify original human studies investigating the association between intestinal microbiota composition and humoral and cellular vaccine responses. In total, 30 publications (26 studies, 14 in infants, 12 in adults), were included.

Global burden of tuberculous meningitis in children aged 0-14 years in 2019: a mathematical modelling study.

Background: Tuberculous meningitis is fatal if untreated and can lead to lifelong neurological sequelae. However, to our knowledge, there are no data on the number of children affected by this disease. We aimed to estimate the global disease burden and attributable mortality of childhood tuberculous meningitis by WHO regions, age groups, treatment status, and HIV status in 2019.

Global impact of ten-valent and 13-valent pneumococcal conjugate vaccines on invasive pneumococcal disease in all ages (the PSERENADE project): a global surveillance analysis.

Background: Pneumococcal conjugate vaccines (PCVs) that are ten-valent (PCV10) and 13-valent (PCV13) became available in 2010. We evaluated their global impact on invasive pneumococcal disease (IPD) incidence in all ages.

Methods: Serotype-specific IPD cases and population denominators were obtained directly from surveillance sites using PCV10 or PCV13 in their national immunisation programmes and with a primary series uptake of at least 50%.

Air versus supplemental oxygen for resuscitation of term or late preterm infants at birth.

This is a protocol for a Cochrane Review (intervention). The objectives are as follows: Primary objective To assess the benefits and harms of air compared with supplemental oxygen for resuscitation of term or late preterm infants at birth in reducing rates of mortality and long-term neurodevelopmental impairment (NDI). Secondary objectives To assess whether the benefits and harms of air compared with supplemental oxygen differ according to different oxygen concentrations, gestational age (GA), whether oxygen was titrated to saturation curves and the income of the study country.

Patients' perspectives regarding health professionals contacting their relatives about genetic risk directly (with patient consent).

Genetic testing of blood relatives of individuals at high risk of dominant conditions has significant preventive health benefits. However, cascade testing uptake is <50%. Research shows increased testing uptake when health professionals (HPs) contact at-risk relatives directly, with patient consent.

Health professionals contacting patients' relatives directly about genetic risk (with patient consent): current clinical practice and perspectives.

Genetic testing can provide risk information to individuals and their blood relatives. Cascade testing uptake by at-risk relatives is <50%, with suboptimal family communication a key barrier to risk notification. The practice of health professionals (HPs) directly contacting relatives (with patient consent) to assist with risk notification has significant international support, but little is known about the practices and views of HPs in Australia.

Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) results in progressive cysts that lead to kidney failure, and is caused by heterozygous germline variants in PKD1 or PKD2. Cyst pathogenesis is not definitively understood. Somatic second-hit mutations have been implicated in cyst pathogenesis, though technical sequencing challenges have limited investigation.

Tuberculosis treatment and undernutrition on Daru Island, Papua New Guinea: A qualitative exploration of a local foodscape.

A substantial proportion of people with tuberculosis (TB)-one of the world's deadliest infectious diseases-live in resource-poor, food insecure settings. It is widely recognised that undernutrition significantly heightens vulnerability to TB, as well as contributes to poor treatment adherence and outcomes. However, more attention is needed to understand what shapes food insecurity and undernutrition in a particular setting.

Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.

Background And Objectives: Hypotonia is a relatively common finding among infants in the neonatal intensive care unit (NICU). Consideration of genetic testing is recommended early in the care of infants with unexplained hypotonia. We aimed to assess the diagnostic yield and overall impact of exome and genome sequencing (ES and GS).

Emergency department mental health presentations in young children: a retrospective chart review.

Aim: To characterise key features of young people presenting to the emergency department (ED) with a mental health complaint when comparing children (aged 7 to 12 years) and teenagers (13 years and greater).

Methods: Retrospective review of all ED mental health presentations in children aged 7-17 years presenting over a 12-month period in 2018 to a tertiary children's hospital in Victoria, Australia. Univariate analyses were carried out to examine the relationship between children and teenagers and a number of key presentation variables.

The Monitoring Illicit Substance Use Consortium: A Study Protocol.

Objective: The global impact of substance use, including cannabis, amphetamine, cocaine, ecstasy, hallucinogens, and opioids, is increasing, although the overall prevalence is low. Australia and New Zealand are among the few regions of the world in which use (typically illicit) of these classes of substances remains within the top 10 causes of disease burden. The period of adolescence and young adulthood, during which substance use behaviors accelerate in prevalence, is associated with a particular risk for harm.

Exploring the impact of professional development about family-centred service for health professionals working in paediatric disability: a scoping review.

Purpose: To explore the impact of family-centred service education on the knowledge, attitudes, self-efficacy, and practice of service providers working in paediatric disability.

Materials And Methods: The review was conducted in accordance with the Joanna Briggs Institute methodology for scoping reviews. The search strategy was completed in seven electronic databases.

Blurring the lines: an empirical examination of the interrelationships among acceptability, appropriateness, and feasibility.

Background: Acceptability, appropriateness, and feasibility are established implementation outcomes used to understand stakeholders' perceptions of an intervention. Further, they are thought to provide insight into behaviors, such as adoption. To date, measurement instruments for the three outcomes have focused on their individual assessment whilst nodding to the idea that they may interrelate.

Standardized study performance, quality assurance, and quality control in a cluster-randomized trial: the Pneumococcal Vaccine Schedules trial.

Randomized controlled trials are considered the "gold standard" for evaluating the effectiveness of an intervention. However, large-scale, cluster-randomized trials are complex and costly to implement. The generation of accurate, reliable, and high-quality data is essential to ensure the validity and generalizability of findings.