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Reference exome data for a Northern Brazilian populationExome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition.
Research
Narrowband UVB phototherapy reduces TNF production by B-cell subsets stimulated via TLR7 from individuals with early multiple sclerosisAt the end of a 60-day course of narrowband UVB phototherapy, administered to individuals with early multiple sclerosis, there were changes in the relative proportions of circulating B-cell subsets. This study investigated phototherapy-associated changes to cytokine responses of B cells when exposed to a TLR7 ligand.
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Planning and clinical role of acute medical home care services for COVID-19: consensus position statement by the Hospital-in-the-Home Society AustralasiaDuring a pandemic when hospitals are stretched and patients need isolation, the role of hospital-in-the-home (HITH) providing acute medical care at home has never been more relevant. We aimed to define and address the challenges to acute home care services posed by the COVID-19 pandemic.
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Gain of chromosome 21 in hematological malignancies: lessons from studying leukemia in children with Down syndromeStructural and numerical alterations of chromosome 21 are extremely common in hematological malignancies. While the functional impact of chimeric transcripts from fused chromosome 21 genes such as TEL-AML1, AML1-ETO, or FUS-ERG have been extensively studied, the role of gain of chromosome 21 remains largely unknown.
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The development of a consensus statement for the prescription of powered wheelchair standing devices in Duchenne muscular dystrophyPURPOSE: To develop a consensus statement for the prescription of a Powered Wheelchair Standing Device (PWSD) in young people with Duchenne muscular dystrophy (DMD). MATERIALS AND METHODS: An international multidisciplinary panel comprising clinicians and users (young people with DMD) along with their parents was consulted. A literature review was undertaken and a Delphi method was utilised to generate consensus statements.
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Anaesthesia, pain and recovery profiles in children following dental extractionsThe aim of this prospective cohort study was to describe the anaesthetic practices, rates of postoperative pain and the recovery trajectory of children having urgent dental extractions at our institution.
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Decoding Susceptibility to Respiratory Viral Infections and Asthma Inception in ChildrenHuman Respiratory Syncytial Virus and Human Rhinovirus are the most frequent cause of respiratory tract infections in infants and children and are major triggers of acute viral bronchiolitis, wheezing and asthma exacerbations.
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Long-term economic outcomes for interventions in early childhood: protocol for a systematic reviewInvestment in early childhood produces positive returns: for the child, the family and the community.
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A positive feedback loop between alpha1-adrenoceptors and inflammatory cytokines in keratinocytesOur results suggest that reciprocal influences between alpha1-adrenoceptors and inflammatory cytokines may play a role in normal inflammatory responses
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Parainfluenza Virus Infection in an Australian Community-based Birth CohortIn a community-based birth cohort of 158 Australian infants followed to age 2 years, the incidence rate of human parainfluenza virus (HPIV) was 0.42 (95% CI = 0.33, 0.54) episodes per child-year with episodes occurring year-round, peaking in the spring season.