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Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility.
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Cyanide in bronchoalveolar lavage is not diagnostic for Pseudomonas aeruginosa in children with cystic fibrosisWe investigated whether cyanide in bronchoalveolar lavage (BAL) fluid could be used as an early diagnostic biomarker of infection in kids with cystic fibrosis
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Changes in lung volume during spells in children with Tetralogy of Fallot under general anesthesiaTo describe the changes in end-expiratory lung volume and ventilation inhomogeneities during spells in three children with Tetralogy of Fallot.
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Population case-control study of cerebral palsy: Neonatal predictors for low-risk term singletonsFor singletons with cerebral palsy (CP) who were born at term, the goals were (1) to determine the proportion not admitted to a Special Care Unit...
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Association between human rhinovirus C and severity of acute asthma in childrenA new and potentially more pathogenic group of human rhinovirus (HRV), group C (HRVC), has recently been discovered.
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Confirmatory factor analysis of the Eating Disorder Examination-Questionnaire (EDE-Q)To compare the goodness-of-fit of five models of Eating Disorder Examination-Questionnaire (EDE-Q) data, in clinical and community samples.
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Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative studyCDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.
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Research priorities for the primordial prevention of acute rheumatic fever and rheumatic heart disease by modifying the social determinants of healthThe social determinants of health such as access to income, education, housing and healthcare, strongly shape the occurrence of acute rheumatic fever and rheumatic heart disease at the household, community and national levels.
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Respiratory syncytial virus in children: epidemiology and clinical impact post-COVID-19Respiratory syncytial virus (RSV) remains a leading cause of mortality and morbidity worldwide. RSV seasonality was disrupted by COVID-19-associated nonpharmaceutical interventions (NPIs). We review RSV seasonality, molecular epidemiology, clinical manifestations, and community awareness to inform future prevention strategies.
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The landscape of genomic structural variation in Indigenous AustraliansIndigenous Australians harbour rich and unique genomic diversity. However, Aboriginal and Torres Strait Islander ancestries are historically under-represented in genomics research and almost completely missing from reference datasets. Addressing this representation gap is critical, both to advance our understanding of global human genomic diversity and as a prerequisite for ensuring equitable outcomes in genomic medicine.