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The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing and functional genomics to resolve variants of uncertain significance in the clinical management of patients and families with cardiomyopathies, primary arrhythmias, and congenital heart disease.
We investigated the effects of cause of death and the presence of prolonged grief disorder on eliciting public stigma toward the bereaved.
CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD).
Despite substantial declines since 2000, lower respiratory infections (LRIs), diarrhoeal diseases, and malaria remain among the leading causes of nonfatal and fatal disease burden for children under 5 years of age (under 5), primarily in sub-Saharan Africa.
Patients with a propensity for upper airway obstruction, including those with obstructive sleep apnea (OSA), are vulnerable in the perioperative period. OSA is an increasingly common disorder in children and, when present, is associated with an increased risk of perioperative respiratory adverse events (PRAE),1 morbidity, and mortality. Therefore, identifying at-risk patients is vital to provide tailored perioperative anesthetic management.
An effective disease surveillance system is critical for early detection and response to disease epidemics. This study aimed to assess the capacity to manage and utilize disease surveillance data and implement an intervention to improve data analysis and use at the district level in Tanzania.
The relationship between diabetic ketoacidosis (DKA) at diagnosis of type 1 diabetes and long-term glycemic control varies between studies. We aimed, firstly, to characterize the association of DKA and its severity with long-term HbA1c in a large contemporary cohort, and secondly, to identify other independent determinants of long-term HbA1c.
Within the vast majority of qualitative health research involving Indigenous populations, Indigenous people have been marginalised from research conceptualisation and conduct. This reflects a lack of regard for Indigenous ways of knowing, being, and doing, has served to perpetuate deficit narratives of Indigenous peoples’ health and wellbeing, and contributes to failure in addressing inequities as a result of ongoing colonisation and institutionalised oppression and racism.
Tim Jones MBBS DCH FRACP MD Co-head, Diabetes and Obesity Research Co-head, Diabetes and Obesity Research Areas of research expertise: Diabetes
Type 1 diabetes, one of the common chronic conditions in children and adolescents, is a serious lifelong condition requiring daily treatment with exogenous insulin for survival. Descriptive epidemiology is important for planning of adequate diabetes health-care provision and could provide clues to aetiology. Over the past few decades, standardised diabetes incidence registries have provided a wealth of data from selected countries.