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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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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.
The following maps provide a visual insight into how the number and rate of Indigenous suicides varies across different regions of Australia.
Research
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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Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of lifeResearch is needed to determine best practice for genomic testing in the context of child interstitial or diffuse lung disease. We explored parent's and child's health-related quality of life, parents' perceived understanding of a genomic testing study, satisfaction with information and the study and decisional regret to undertake genomic testing.
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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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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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Mind The DistanceYael Jacinta Penelope Keely Bep Amy Helen Claire Perry Freeman Strauss Bebbington Uink Finlay-Jones Milroy McIlroy BPsych (Hons) MPsych (Clin) PhD
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Personalized transcriptomics reveals heterogeneous immunophenotypes in children with viral bronchiolitisDysregulated expression of IFN-dependent pathways after respiratory viral infections is a defining immunophenotypic feature of AVB-susceptible infants