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Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modellingSETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.
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Ecological-level factors associated with tuberculosis incidence and mortality: A systematic review and meta-analysisGlobally, tuberculosis (TB) is the leading infectious cause of morbidity and mortality, with the risk of infection affected by both individual and ecological-level factors. While systematic reviews on individual-level factors exist, there are currently limited studies examining ecological-level factors associated with TB incidence and mortality. This study was conducted to identify ecological factors associated with TB incidence and mortality.
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Early Dysglycemia Is Detectable Using Continuous Glucose Monitoring in Very Young Children at Risk of Type 1 DiabetesContinuous glucose monitoring (CGM) can detect early dysglycemia in older children and adults with presymptomatic type 1 diabetes and predict risk of progression to clinical onset. However, CGM data for very young children at greatest risk of disease progression are lacking.
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Advancing Impactful Research for Adolescent Health and Wellbeing: Key Principles and Required Technical InvestmentsSubstantial progress in adolescent health research has been made over recent decades, but important knowledge gaps remain.
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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseasesGenetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature".
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Internet-based third-wave Cognitive Behavioral Therapy (CBT) for reducing stress in parents of children and adolescents with chronic conditions: Systematic review and meta-analysis protocolParents of children and adolescents with chronic conditions have an increased risk of stress-related mental health problems, and reduced quality of life. Third wave Cognitive Behavioral Therapy interventions have been shown to reduce stress in this parent population. Studies demonstrate that this efficacy endures when these therapies are delivered online.
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The Safety of Alcohol Pharmacotherapies in Pregnancy: A Scoping Review of Human and Animal ResearchAlcohol pharmacotherapies pose unknown teratogenic risks in pregnancy and are therefore recommended to be avoided. This limits treatment options for pregnant individuals with alcohol use disorders (AUD). The information on the safety of these medications during pregnancy is uncertain, prompting a scoping review. The objective of this review was to investigate available information on the safety of alcohol pharmacotherapies in pregnancy.
Research
Notification of acute rheumatic fever and rheumatic heart disease in hospitalised people in the Midwest region of Western Australia, 2012–2022: a retrospective cohort studyAcute rheumatic fever and rheumatic heart disease are caused by untreated group A streptococcus infections. Their prevalence is much higher among First Nations people than other Australians.
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Screening Measures of Perinatal Mental Health and Wellbeing in Fathers: A Scoping ReviewAccurately screening fathers for perinatal mental health problems requires well-validated screening instruments that assess the expression of paternal perinatal mental distress. This study aimed to identify and describe the psychometric properties of perinatal mental health screening instruments administered to paternal cohorts within the past two decades.
A bold research program is working to give young children lifelong protection against influenza