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Research
TANGO2 binds crystallin alpha B and its loss causes desminopathyMutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown.
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Harmonization of SDQ and ASEBA Phenotypes: Measurement Variance Across CohortsHarmonizing the scores obtained by different instruments that measure the same construct enable researchers to combine them in one analysis. An important step in harmonization is checking whether there is measurement invariance across populations.
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Safety, tolerability and pharmacokinetics of subcutaneous meropenem as an alternative to intravenous administrationSubcutaneous delivery of antibiotics is a practical alternative to IV administration. Meropenem is commonly used to treat infections caused by resistant Gram-negative organisms.
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Bile acids in the lower airways is associated with airway microbiota changes in chronic obstructive pulmonary disease: an observational studyChronic obstructive pulmonary disease (COPD) is a complex disorder with a high degree of interindividual variability. Gastrointestinal dysfunction is common in patients with COPD and has been proposed to influence the clinical progression of the disease. Using the presence of bile acid(s) (BA) in bronchoalveolar lavage (BAL) fluid as a marker of gastric aspiration, we evaluated the relationships between BAs, clinical outcomes and bacterial lung colonisation.
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Early nasal microbiota and subsequent respiratory tract infections in infants with cystic fibrosisRespiratory tract infections (RTIs) drive lung function decline in children with cystic fibrosis (CF). While the respiratory microbiota is clearly associated with RTI pathogenesis in infants without CF, data on infants with CF is scarce. We compared nasal microbiota development between infants with CF and controls and assessed associations between early-life nasal microbiota, RTIs, and antibiotic treatment in infants with CF.
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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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Human movement and environmental barriers shape the emergence of dengueUnderstanding how emerging infectious diseases spread within and between countries is essential to contain future pandemics. Spread to new areas requires connectivity between one or more sources and a suitable local environment, but how these two factors interact at different stages of disease emergence remains largely unknown.
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The Respiratory Microbiome in Paediatric Chronic Wet Cough: What Is Known and Future DirectionsChronic wet cough for longer than 4 weeks is a hallmark of chronic suppurative lung diseases, including protracted bacterial bronchitis, and bronchiectasis in children. Severe lower respiratory infection early in life is a major risk factor of PBB and paediatric bronchiectasis.
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A rapid semi-quantitative screening method to assess chemicals present in heated e-liquids and e-cigarette aerosolsElectronic cigarettes (e-cigarettes) lack regulatory status as therapeutic products in all jurisdictions worldwide. They are potentially unsafe consumer products, with significant evidence they pose a risk to human health. Therefore, developing rapid, economical test methods to assess the chemical composition of e-liquids in heated and unheated forms and the aerosols produced by e-cigarettes is crucial.
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Characterizing human movement patterns using GPS data loggers in an area of persistent malaria in Zimbabwe along the Mozambique borderHuman mobility is a driver for the reemergence or resurgence of malaria and has been identified as a source of cross-border transmission. However, movement patterns are difficult to measure in rural areas where malaria risk is high. In countries with malaria elimination goals, it is essential to determine the role of mobility on malaria transmission to implement appropriate interventions.