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Copy number variation in tRNA isodecoder genes impairs mammalian development and balanced translationThe number of tRNA isodecoders has increased dramatically in mammals, but the specific molecular and physiological reasons for this expansion remain elusive. To address this fundamental question we used CRISPR editing to knockout the seven-membered phenylalanine tRNA gene family in mice, both individually and combinatorially.
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Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease riskLung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 580,869 participants, we identified 1,020 independent association signals implicating 559 genes supported by ≥2 criteria from a systematic variant-to-gene mapping framework. These genes were enriched in 29 pathways. Individual variants showed heterogeneity across ancestries, age and smoking groups, and collectively as a genetic risk score showed strong association with COPD across ancestry groups.
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Association of Achieving Time in Range Clinical Targets With Treatment Modality Among Youths With Type 1 DiabetesContinuous glucose monitoring (CGM) devices have demonstrated efficacy in adults and more recently in youths and older adults with type 1 diabetes. In adults with type 1 diabetes, the use of real-time CGM compared with intermittently scanned CGM was associated with improved glycemic control, but there are limited data available for youths.
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Adverse event reports of anaphylaxis after Comirnaty and Vaxzevria COVID-19 vaccinations, Western Australia, 22 February to 30 June 2021Within the first 4 months of the Western Australian COVID-19 immunisation programme, 49 suspected anaphylaxis cases were reported to the vaccine safety surveillance system. Twelve reports met Brighton Collaboration case definition, corresponding to rates of 15.9 and 17.7 per million doses of Vaxzevria and Comirnaty administered respectively.
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Gene filtering strategies for machine learning guided biomarker discovery using neonatal sepsis RNA-seq dataMachine learning (ML) algorithms are powerful tools that are increasingly being used for sepsis biomarker discovery in RNA-Seq data. RNA-Seq datasets contain multiple sources and types of noise (operator, technical and non-systematic) that may bias ML classification. Normalisation and independent gene filtering approaches described in RNA-Seq workflows account for some of this variability and are typically only targeted at differential expression analysis rather than ML applications.
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Standardization of epidemiological surveillance of rheumatic heart diseaseRheumatic heart disease (RHD) is a long-term sequela of acute rheumatic fever (ARF), which classically begins after an untreated or undertreated infection caused by Streptococcus pyogenes (Strep A). RHD develops after the heart valves are permanently damaged due to ARF.
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Standardization of Epidemiological Surveillance of Acute Rheumatic FeverAcute rheumatic fever (ARF) is a multiorgan inflammatory disorder that results from the body's autoimmune response to pharyngitis or a skin infection caused by Streptococcus pyogenes (Strep A). Acute rheumatic fever mainly affects those in low- and middle-income nations, as well as in indigenous populations in wealthy nations, where initial Strep A infections may go undetected.
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Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trialTo evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome.
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Supporting the Social-Emotional Well-Being of Elementary School Students Who Are Deaf and Hard of Hearing: A Pilot StudyChildren who are Deaf and Hard of Hearing, their parents, Teachers of the Deaf, and other community stakeholders were involved in co-designing a web-based resource to support students' social-emotional well-being.
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“It Was Such a Different Experience”: a Qualitative Study of Parental Perinatal Experiences When Having a Subsequent Child After Having a Child Diagnosed with AutismChildren who have an older sibling diagnosed with autism have an increased likelihood of being diagnosed with autism or developing broader developmental difficulties. This study explored perinatal experiences of parents of a child diagnosed with autism, spanning pre-conception until the subsequent child’s early developmental period.