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Quantification of the disease burden caused by different risks informs prevention by providing an account of health loss different to that provided by a...
Visceral leishmaniasis (VL) is fatal if untreated, and there are no vaccines for this disease
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and treatments focus mainly on symptom management to improve quality of life.
There are limited psychometric data on outcome measures for children with Developmental Epileptic Encephalopathies (DEEs), beyond measuring seizures, and no data to describe meaningful change. This study aimed to explore parent perceptions of important differences in functional abilities that would guide their participation in clinical trials.
Cystic fibrosis (CF) is a rare, inherited, life-limiting condition predominantly affecting the lungs, for which there is no cure. The disease is characterized by recurrent pulmonary exacerbations (PEx), which are thought to drive progressive lung damage. Management of these episodes is complex and generally involves multiple interventions targeting different aspects of disease. The emergence of innovative trials and use of Bayesian statistical methods has created renewed opportunities for studying heterogeneous populations in rare diseases.
The main objective of the study is to establish a comprehensive register of congenital and acquired heart disease in WA with accurate re-classification of all cases through Princess Margart Hospital using international diagnostic codes.
Information from the Healthy Pregnancy & Me brochure for pregnant women on exercising safely and healthily during their pregnancy.
A global research network has taken another step towards standardising the way doctors interpret commonly used lung function tests.
Dr Hansen’s study found children born through ART had a twofold risk of having a birth defect. The results were published in the prestigious New England Journal
A new study has found that the genetic flaw responsible for Rett syndrome can strike males, even where there isn't a family history of the rare brain disorder.