TRAPPopathies: Severe Multisystem Disorders Caused by Variants in Genes of the Transport Protein Particle (TRAPP) Complexes.

The TRAPP (TRAnsport Protein Particle) protein complex is a multi-subunit complex involved in vesicular transport between intracellular compartments. The TRAPP complex plays an important role in endoplasmic reticulum-to-Golgi and Golgi-to-plasma membrane transport, as well as autophagy. TRAPP complexes comprise a core complex, TRAPPI, and the association of peripheral protein subunits to make two complexes, known as TRAPPII and TRAPPIII, which act as Guanine Nucleotide Exchange Factors (GEFs) of Rab11 and Rab1, respectively.

Long-Term Results After Salter Innominate Osteotomy for the Treatment of Developmental Dysplasia of the Hip-Only 8% Rate of Total Hip Arthroplasty at a Median Follow-Up of 22 Years.

Background/objectives: The redirection or reshaping of the acetabulum might be warranted to attain a concentric and stable hip in children with developmental dysplasia of the hip (DDH). The aim of this study is to assess the late clinical and radiological results, and to determine the number of patients requiring secondary surgery or a total hip arthroplasty at a long-term follow-up.

Methods: Our institution performed 99 Salter osteotomies on 76 patients without underlying neuromuscular conditions over a 21-year period, from 1981 to 2002.

Knowledge, Attitudes, and Practices Toward Antibiotic Use in Food-Producing Animals Among University Students in Seven Cities in Southern and Central China: A Cross-Sectional Study.

The misuse of antibiotics in both humans and food-producing animals poses significant risks to human health and contributes to the rise of antibiotic resistance. Raising public awareness is crucial to managing antibiotic resistance, particularly among university students, as they represent a future force in tackling this global issue. A cross-sectional study was conducted from July 2022 to May 2024 in seven cities in Southern and Central China to assess university students' knowledge, attitude, and practice regarding antibiotic use in humans and food-producing animals.

Birth weight and prepubertal growth trajectory had a combined effect on pubertal initiation in girls.

Aim: Most studies of prepubertal weight and puberty have not used continuous or long follow-up periods. We explored the effect that birth weight and growth trajectories from 0-9 years of age had on starting puberty.

Methods: Data were obtained from 1510 children in Tianjin, China, who were born in 2013 and selected by cluster random sampling.

Delivering family centred services in child-onset disability: a mixed methods approach to understanding health professionals' experiences and approaches.

Aim: Family-centred service aims to build family capacity to support their children, but behaviours supporting capacity-building vary. We explored what influences the way service providers think about and approach family-centred service.

Method: An online survey drew on experiences, beliefs, and perspectives of Australian providers.

"Equity" in genomic health policies: a review of policies in the international arena.

Introduction: The field of genomics is rapidly evolving and has made significant impact on the diagnosis and understanding of rare and genetic diseases, in guiding precision medicine in cancer treatment, and in providing personalized risk assessment for disease development and treatment responses. However, according to the literature, there is widespread socio economic and racial inequities in the diagnosis, treatment, and in the use of genomic medicine services. This policy review sets out to explore the concept of equity in access to genomic care, the level of inclusion of equity and how it is addressed and what mechanisms are in place to achieve equity in genomic care in the international health policy.

International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia.

Achondroplasia is the most common genetic form of short-limbed skeletal dysplasia (dwarfism). Clinical manifestations and complications can affect individuals across the lifespan, including the need for adaptations for activities of daily living, which can affect quality of life. Current international guidelines focus on symptomatic management, with little discussion regarding potential medication, as therapeutic options were limited at the time of their publication.

Experiences of perinatal genetic screening for people from migrant and refugee backgrounds: a scoping review.

People from refugee and migrant backgrounds often face poor experiences and outcomes in healthcare, and genetic healthcare is no exception. Understanding whether and how these health inequities manifest is an important step towards equitable perinatal genetic screening for genetic or chromosomal conditions (offered preconception, prenatally, or during the newborn period). A scoping review was conducted to review international evidence of perceptions and experiences of perinatal genetic screening for people from migrant and refugee backgrounds.

Effect of porcine collagen matrix versus rotated pedicle palatal connective tissue flap on the soft-tissue closure after the immediate posterior implantation: study protocol for a randomised controlled trial.

Introduction: Soft-tissue defect is commonly seen in immediate maxillary posterior implantation because of tooth extraction wound and tension from bone graft. Bone graft materials exposure has a significant detrimental influence on bone augmentation. However, previous studies lack sufficient evidence to guide wound closure after immediate posterior implantation.

Generation Victoria (GenV): protocol for a longitudinal birth cohort of Victorian children and their parents.

Background: In a world confronted with new and connected challenges, novel strategies are needed to help children and adults achieve their full potential, to predict, prevent and treat disease, and to achieve equity in services and outcomes. Australia's Generation Victoria (GenV) cohorts are designed for multi-pronged discovery (what could improve outcomes?) and intervention research (what actually works, how much and for whom?). Here, we describe the key features of its protocol.

Analysis and prediction of condylar resorption following orthognathic surgery.

Condylar resorption is a feared complication of orthognathic surgery. This study investigated condylar resorption in a cohort of 200 patients This allowed for a powerful update on incidence and risk factors. 9.

Suboptimal care factors and stillbirths during the COVID-19 pandemic in Victoria: A state-wide linkage study of stillbirths and Consultative Council on Obstetric and Paediatric Mortality and Morbidity case reviews.

Problem: The COVID-19 pandemic affected perinatal outcomes globally, with some regions reporting an increase in stillbirths.

Background: Melbourne, Australia, experienced one of the longest and most stringent pandemic lockdowns.

Aim: To compare stillbirth rates for singleton pregnancies > 20 weeks' gestation before and during the pandemic and examine differences in suboptimal care factors.

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).

Cause-Specific Secular Trends and Prevention Measures of Post-Neonatally Acquired Cerebral Palsy in Victoria and Western Australia 1975-2014: A Population-Based Observational Study.

Aim: To describe the timing and causes of post-neonatally acquired cerebral palsy (PNN-CP) and map the implementation of relevant preventive strategies against cause-specific temporal trends in prevalence.

Methods: Data for a 1975-2014 birth cohort of children with PNN-CP (brain injury between 28 days and 2 years of age) were drawn from the Victorian and Western Australian CP Registers. Descriptive statistics were used to report causal events and timing.

Association Between COVID-19 Pandemic Phases and the Risk of Maternal Intensive Care Unit Admission: A Retrospective Analysis of 215,363 Victorian Hospital Admissions.

Background: There are no published Australian population-based data on serious COVID-19-associated maternal morbidity before and after widespread vaccination.

Aims: To compare COVID-19 infection rates, intensive care unit (ICU) admissions, and length of stay in hospitalised pregnant patients before and after achieving 70% state-wide maternal COVID-19 vaccination coverage.

Material And Methods: Population-based retrospective cohort study involving all hospital-admitted episodes for pregnant patients over 15-years-old with COVID-19 in Victoria from 1 March 2020 to 31 March 2022.

Potential Impact of Rapid Molecular Microbiologic Diagnosis for Mechanically Ventilated Children in Intensive Care With Suspected Pneumonia.

Background: Lower respiratory tract infections (LRTIs) remain a leading cause of community-acquired and nosocomial infection in children and a common indication for antimicrobial use and intensive care admission. Determining the causative pathogen for LRTIs is difficult and traditional culture-based methods are labor- and time-intensive. Emerging molecular diagnostic tools may identify pathogens and detect antimicrobial resistance more quickly, to enable earlier targeted antimicrobial therapy.

Embedding Specialised Educators in Modalities for Continuing Medical Education. A Study of Effectiveness, and Health Care Practitioner and Educator Preferences.

Introduction: As the delivery of continuing medical education moves towards digital modes, determining how to embed and capitalise on the skills of specialised educators in digital modalities is critical. Drawing on social theories of adult learning and behaviour change, this study trialled multiple delivery modes of education about reproductive genetic 'carrier screening' with varying levels of specialised educator (genetic counsellors) input to examine clinical effectiveness, and health care practitioners and educator preferences.

Methods: A subset of health care practitioners (n = 209) interested in offering carrier screening through a large study were randomly allocated to receive education via face-to-face, a pre-recorded video or an online module, with active or passive educator input.

Increasing parent help-seeking for child mental health: A study protocol for the growing minds check-in, an online universal screening tool.

Background: Early identification and intervention for mental health (MH) problems in childhood offers lifelong benefits. Many children with MH problems do not receive appropriate help. To address this need, an online universal MH screening tool, the Growing Minds Check-In for parents/caregivers (GMCI-P), was developed to provide feedback to parents on their children's MH, identify children at risk of MH problems, and link parents to evidence-based online programs/information, with the goal of facilitating parent help-seeking, and ultimately reducing the prevalence of child MH problems.

Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study.

Background: Vosoritide is a C-type natriuretic peptide analog that addresses an underlying pathway causing reduced bone growth in achondroplasia. Understanding the vosoritide treatment effect requires evaluation over an extended duration and comparison with outcomes in untreated children.

Methods: After completing ≥6 months of a baseline observational growth study and 52 weeks in a double-blind, placebo-controlled study (ClinicalTrials.

Does Antenatal Expressing Affect Onset of Lactogenesis for Women With Diabetes? Results From a Randomised Controlled Trial and Cohort Study.

Background: Previously it was recognised onset of Lactogenesis II was delayed in women with Type I diabetes compared to women without diabetes, but the effect of gestational diabetes was unclear. Some clinicians suggest pregnant women with diabetes express breastmilk in late pregnancy to hasten onset of Lactogenesis II.

Aims: To confirm if Lactogenesis II occurs later in women with diabetes in pregnancy, and test if advice to express antenatally hastens Lactogenesis II.