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Research
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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Risk factors for diagnosis and treatment delay among patients with multidrug-resistant tuberculosis in Hunan Province, ChinaMultidrug-resistant tuberculosis (MDR-TB) is a global health threat associated with high morbidity and mortality rates. Diagnosis and treatment delays are associated with poor treatment outcomes in patients with MDR-TB. However, the risk factors associated with these delays are not robustly investigated, particularly in high TB burden countries such as China.
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State transitions across the Strep A disease spectrum: scoping review and evidence gapsThe spectrum of diseases caused by Streptococcus pyogenes (Strep A) ranges from superficial to serious life-threatening invasive infections. We conducted a scoping review of published articles between 1980 and 2021 to synthesize evidence of state transitions across the Strep A disease spectrum. We identified 175 articles reporting 262 distinct observations of Strep A disease state transitions.
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Trauma-informed prevention programmes for depression, anxiety, and substance use among young people: protocol for a mixed-methods systematic reviewMental ill-health and substance use bear a substantial burden and harm on young people and often arise from co-occurring and compounding risk factors, such as traumatic stress. Trauma-informed prevention of mental ill-health and substance use demonstrates significant promise in reducing this burden.
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Geldanamycin treatment does not result in anti-cancer activity in a preclinical model of orthotopic mesotheliomaMesothelioma is characterised by its aggressive invasive behaviour, affecting the surrounding tissues of the pleura or peritoneum. We compared an invasive pleural model with a non-invasive subcutaneous model of mesothelioma and performed transcriptomic analyses on the tumour samples.
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No association between in utero exposure to emissions from a coalmine fire and post-natal lung functionStudies linking early life exposure to air pollution and subsequent impaired lung health have focused on chronic, low-level exposures in urban settings. We aimed to determine whether in utero exposure to an acute, high-intensity air pollution episode impaired lung function 7-years later.
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ERS/ATS technical standard on interpretive strategies for routine lung function testsAppropriate interpretation of pulmonary function tests (PFTs) involves the classification of observed values as within/outside the normal range based on a reference population of healthy individuals, integrating knowledge of physiological determinants of test results into functional classifications and integrating patterns with other clinical data to estimate prognosis.
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Building a Nyoongar work practice model for Aboriginal youth mental health: prioritising trust, culture and spirit, and new ways of workingMainstream youth mental health services struggle to comprehend the connection between colonisation and service provision for Aboriginal young people. This is the consensus agreed by Aboriginal Elders from Perth, Western Australia and young Aboriginal leaders within their communities.
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Characteristics of patients ≥10 years of age with diffuse intrinsic pontine glioma: a report from the International DIPG/DMG RegistryDiffuse intrinsic pontine gliomas generally occur in young school-age children, although can occur in adolescents and young adults. The purpose of this study was to describe clinical, radiological, pathologic, and molecular characteristics in patients ≥10 years of age with DIPG enrolled in the International DIPG Registry.
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Re-engaging an inactive cohort of young adults: Evaluating recruitment for the Kidskin Young Adult Myopia StudyWe evaluate our ability to recruit participants for the Kidskin Young Adult Myopia Study, a follow-up of the Kidskin Study