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        Non-communicable disease mortality in young people with a history of contact with the youth justice system in Queensland, Australia: a retrospective, population-based cohort study

        Young people who have had contact with the criminal justice system are at increased risk of early death, especially from injuries. However, deaths due to non-communicable diseases (NCDs) in this population remain poorly described. We aimed to estimate mortality due to NCDs in people with a history of involvement with the youth justice system, compare NCD mortality rates in this population with those in the general population, and characterise demographic and justice-related factors associated with deaths caused by NCDs in people with a history of contact with the youth justice system. ...

        Research

        EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO

        Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis. ...

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        Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

        Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. ...

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        Tonsils at Telethon: developing a standardised collection of tonsil photographs for group A streptococcal (GAS) research

        Group A streptococcus (GAS) infections, such as pharyngitis and impetigo, can lead to rheumatic fever and rheumatic heart disease (RHD). Australian Aboriginal and Torres Strait Islander populations experience high rates of RHD and GAS skin infection, yet rates of GAS pharyngitis are unclear.  ...

        Research

        Subcutaneous infusion of high-dose benzathine penicillin G is safe, tolerable, and suitable for less-frequent dosing for rheumatic heart disease secondary prophylaxis: a phase 1 open-label population pharmacokinetic study

        Since 1955, the recommended strategy for rheumatic heart disease secondary prophylaxis has been benzathine penicillin G injections administered intramuscularly every 4 weeks. Due to dosing frequency, pain, and programmatic challenges, adherence is suboptimal. It has previously been demonstrated that BPG delivered subcutaneously at a standard dose is safe and tolerable and has favorable pharmacokinetics, setting the scene for improved regimens with less frequent administration. ...

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        Impaired interferon response in plasmacytoid dendritic cells from children with persistent wheeze

        Impaired interferon response and allergic sensitization may contribute to virus-induced wheeze and asthma development in young children. Plasmacytoid dendritic cells play a key role in antiviral immunity as critical producers of type I interferons.  ...

        Research

        Study Protocol for a Stepped-Wedge Cluster (Nested) Randomized Controlled Trial of Antenatal Colostrum Expression (ACE) Instruction in First-Time Mothers: The ACE Study

        Although many mothers initiate breastfeeding, supplementation with human-milk substitutes (formula) during the birth hospitalization is common and has been associated with early breastfeeding cessation. Colostrum hand expressed in the last few weeks before birth, known as antenatal colostrum expression (ACE), can be used instead of human-milk substitutes. However, evidence is lacking on the efficacy of ACE on breastfeeding outcomes and in non-diabetic mothers.  ...

        Research

        Cough in Children and Adults: Diagnosis, Assessment and Management (CICADA). Summary of an updated position statement on chronic cough in Australia

        Cough is the most common symptom leading to medical consultation. Chronic cough results in significant health care costs, impairs quality of life, and may indicate the presence of a serious underlying condition. Here, we present a summary of an updated position statement on cough management in the clinical consultation.  ...

        Research

        Presence of onco-fetal neighborhoods in hepatocellular carcinoma is associated with relapse and response to immunotherapy

        Onco-fetal reprogramming of the tumor ecosystem induces fetal developmental signatures in the tumor microenvironment, leading to immunosuppressive features. Here, we employed single-cell RNA sequencing, spatial transcriptomics and bulk RNA sequencing to delineate specific cell subsets involved in hepatocellular carcinoma  relapse and response to immunotherapy.  ...

        Research

        Outcomes following intensive day rehabilitation for young people in Western Australia

        Intensive rehabilitation aims to improve and maintain functioning in young people who experience disability due to illness or injury. Day rehabilitation may have advantages for families and healthcare systems over inpatient models of rehabilitation.  ...

        Research

        An evaluation of GPT models for phenotype concept recognition

        Clinical deep phenotyping and phenotype annotation play a critical role in both the diagnosis of patients with rare disorders as well as in building computationally-tractable knowledge in the rare disorders field. ...

        Research

        Morbidity of Scabies in Resource-Limited Countries: Rheumatic Heart Disease (RHD) and Post-Streptococcal Glomerulonephritis (APSGN)

        Scabies is one of the world’s most prevalent diseases, with approximately 147 million cases at any one time and an estimated annual incidence of 455 million new episodes. Although Group A streptococcal (GAS) pharyngitis has long been implicated in the pathogenesis of acute rheumatic fever (ARF) and subsequent rheumatic heart disease (RHD), impetigo caused by GAS has recently been postulated as a link between scabies and the pathogenesis of ARF. ...

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