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        133-144 of 439 results for 'Rare disease'

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        Description of Total Population Hospital Admissions for Treacher Collins Syndrome in Australia

        To describe patterns and demographic characteristics of total-population hospital admissions with a diagnosis of Treacher Collins syndrome (TCS) in Australia. ...

        Research

        Non-severe burn injury increases cancer incidence in mice and has long-term impacts on the activation and function of T cells

        Recent evidence suggests that burn patients are at increased risk of hospital admission for infection, mental health conditions, cardiovascular disease and cancer for many years after discharge for the burn injury itself. ...

        Research

        Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians

        Traits associated with CVD, CRD and T2D in Aboriginal Australians provide novel insight into function of Arylsulphatase A Pseudodeficiency variants ...

        Research

        Mitochondrial Gene Therapy

        Aleksandra Filipovska AF BSc PhD Louis Landau Chair in Child Health Research; NHMRC Leadership Fellow; Deputy Director, ARC Centre of Excellence for Synthetic Biology; Adjunct Research Professor, Monash University Louis Landau Chair in Child Health ...

        Research

        Novel BRD4-NUT fusion isoforms increase the pathogenic complexity in NUT midline carcinoma

        This study contributes to our understanding of the genetic diversity of NMC, an important step towards finding therapeutic targets for a disease that is... ...

        Research

        Changing Prevalence of Lower Airway Infections in Young Children with Cystic Fibrosis

        Aspergillus species and P. aeruginosa are commonly present in the lower airways from infancy ...

        Research

        Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database

        Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase). ...

        Research

        Genome-wide analysis of genetic risk factors for rheumatic heart disease in Australian Aboriginal populations from the Northern Territory

        Jenefer Timo Sarra Genevieve Jonathan Blackwell Lassmann Jamieson Syn Carapetis AM JM T SE GS JR BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD BSc (Hons) MSc PhD BSc (Hons), PhD AM MBBS FRACP FAFPHM PhD FAHMS Head, ...

        Research

        Factors influencing participation in home, school, and community settings by children and adolescents with neuromuscular disorders: A qualitative descriptive study

        This study explored how children and adolescents with a neuromuscular disorder (NMD) and their parents experienced barriers and enablers to the child's participation. ...

        Research

        BAL Inflammatory Markers Can Predict Pulmonary Exacerbations in Children With Cystic Fibrosis

        Pulmonary exacerbations in cystic fibrosis are characterized by airway inflammation and may cause irreversible lung damage. Early identification of such exacerbations may facilitate early initiation of treatment, thereby potentially reducing long-term morbidity. Research question: Is it possible to predict pulmonary exacerbations in children with cystic fibrosis, using inflammatory markers obtained from BAL fluid? ...

        Research

        Change in health outcomes for First Nations children with chronic wet cough: rationale and study protocol for a multi-centre implementation science study

        In children, chronic wet cough may be a sign of underlying lung disease, including protracted bacterial bronchitis (PBB) and bronchiectasis. Chronic (> 4 weeks in duration) wet cough (without indicators pointing to alternative causes) that responds to antibiotic treatment is diagnostic of PBB. Timely recognition and management of PBB can prevent disease progression to irreversible bronchiectasis with lifelong consequences. However, detection and management require timely health-seeking by carers and effective management by clinicians. ...

        Research

        Western Australia Paediatric Bronchiectasis Cohort

        Kathryn André Yuliya Alana Ramsey Schultz Karpievitch Harper KR AS YK AH BSc (Hons), PhD MBChB, PhD, FRACP PhD, MS, BS BSc (hons) Co-Head, Children's Lung Health Program Head, Respiratory Health RFA Ai and Data Analytics Lead, Respiratory Research ...

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