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Research
Sex-Specific Effects of Birth Weight on Longitudinal Behavioral Outcomes: A Mendelian Randomization Approach Using Polygenic ScoresIt is unclear whether sex differences in behavior arising from birth weight (BW) are genuine because of the cross-sectional nature and potential confounding in previous studies. We aimed to test whether sex differences associated with BW phenotype were reproducible using a Mendelian randomization approach, i.e., association between polygenic score (PGS) for BW and behavior outcomes across childhood and adolescence.
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Genomic characterization of clinically significant blood group variants in Aboriginal AustraliansHematological disorders are often treated with blood transfusions. Many blood group antigens and variants are population-specific, and for patients with rare blood types, extensive donor screening is required to find suitable matches for transfusion. There is a scarcity of knowledge regarding blood group variants in Aboriginal Australian populations, despite a higher need for transfusion due to the higher prevalence of renal diseases and anemia.
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A near-complete genome of the uncultured Staphylococcus aureus phage COMBAT-CF_PAR1 isolated from the lungs of an infant with cystic fibrosisIn cystic fibrosis, bacteria–bacteriophage interaction in the lower airways is poorly understood. We present the near-complete genome of the uncultured Siphovirus-like bacteriophage, Staphylococcus aureus phage COMBAT-CF_PAR1, isolated from the lower airways. The genome spans 41,510 bp with 33.45% guanine–cytosine content and contains 65 open reading frames.
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Global Disparities of Cancer and Its Projected Burden in 2050Cancer prevention and care efforts have been challenged by the COVID-19 pandemic and armed conflicts, resulting in a decline in the global Human Development Index (HDI), particularly in low- and middle-income countries. These challenges and subsequent shifts in health care priorities underscore the need to continuously monitor cancer outcome disparities and statistics globally to ensure delivery of equitable and optimal cancer prevention and care in uncertain times.
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Prenatal Origins of Obstructive Airway Disease: Starting on the Wrong Trajectory?From the results of well-performed population health studies, we now have excellent data demonstrating that deficits in adult lung function may be present early in life, possibly as a result of developmental disorders, incurring a lifelong risk of obstructive airway diseases such as asthma and chronic obstructive pulmonary disease.
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Risk and protective factors of youth crime: An umbrella review of systematic reviews and meta-analysesSeveral systematic reviews and meta-analyses have been conducted on the risk and protective factors of youth crime. This study aims to consolidate this evidence using an umbrella review methodology.
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Novel GABAAR antagonists target networked gene hubs at the leading-edge in high-grade gliomasIon channel activity underlying biological processes that drive high-grade gliomas (HGG) is largely unknown. We aimed to determine the networking of ion channel genes and validate their expression within HGG patient tumors, to identify ion channel-targeting drugs that would inhibit tumor-promoting processes.
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Parental Experiences of Having a Child Diagnosed With Septo-Optic DysplasiaSepto-optic dysplasia (SOD) is a congenital disorder affecting 1 in 10,000 births, defined by the presence of at least two of a clinical triad, consisting of optic nerve hypoplasia, midline brain defects and pituitary hormone deficiency. Children with SOD may have vision impairment, hormonal deficiencies, developmental disorders, or epilepsy, but the clinical picture is highly variable. The complexity of SOD, its interplay with family factors, and the need for multiple specialty commitments can make the diagnosis period a challenging time for families.
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Comparing home polysomnography with transcutaneous CO2 monitoring to laboratory polysomnography in children with neuromuscular disordersClinical utility of home polysomnography in children with neuromuscular disorders is limited by lack of evidence that sleep-disordered breathing can be reliably identified and inability to diagnose hypoventilation because carbon dioxide is not measured.
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Lung volumes, gas transfer and oscillometry after preterm birth: systematic review and meta-analysisSmall airway and lung parenchymal abnormalities frequently occur following preterm birth but are commonly missed by spirometry. Static lung volumes, diffusing capacity of the lung for carbon monoxide (D LCO) and oscillometry provide a more precise characterisation of these conditions. We hypothesised that differences in these measures exist between individuals born preterm and at term and we aimed to systematically review the literature to identify and quantify these differences in lung function.