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Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modellingSETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.
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.
Research
Previous Influenza Infection Exacerbates Allergen Specific Response and Impairs Airway Barrier Integrity in Pre-Sensitized MiceIn this study we assessed the effects of antigen exposure in mice preāsensitized with allergen following viral infection on changes in lung function, cellular responses and tight junction expression.
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The measurement properties of tests and tools used in cystic fibrosis studies: a systematic reviewThere is no consensus on how best to measure responses to interventions among children and adults with cystic fibrosis (CF). We have systematically reviewed and summarised the characteristics and measurement properties of tests and tools that have been used to capture outcomes in studies among people with CF, including their reliability, validity and responsiveness. This review is intended to guide researchers when selecting tests or tools for measuring treatment effects in CF trials. A consensus set of these tests and tools could improve consistency in how outcomes are captured and thereby facilitate comparisons and synthesis of evidence across studies.
Research
A screening tool to identify risk for bronchiectasis progression in children with cystic fibrosisThe marked heterogeneity in cystic fibrosis (CF) disease complicates the selection of those most likely to benefit from existing or emergent treatments. We aimed to predict the progression of bronchiectasis in preschool children with CF.