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Research

Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study

There are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance.

Research

Rheumatic Heart Disease in Pregnancy: New Strategies for an Old Disease?

RHD in pregnancy (RHD-P) is associated with an increased burden of maternal and perinatal morbidity and mortality. A sequellae of rheumatic fever resulting in heart valve damage if untreated, RHD is twice as common in women. In providing an historical overview, this commentary provides context for prevention and treatment in the 21 st century. Four underlying themes inform much of the literature on RHD-P: its association with inequities; often-complex care requirements; demands for integrated care models, and a life-course approach.

Research

Addressing Race in Pulmonary Function Testing by Aligning Intent and Evidence With Practice and Perception

The practice of using race or ethnicity in medicine to explain differences between individuals is being called into question because it may contribute to biased medical care and research that perpetuates health disparities and structural racism.

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Global distribution of human hookworm species and differences in their morbidity effects: a systematic review

The global distribution and morbidity effects for each specific hookworm species is unknown, which prevents implementation of the optimum intervention for local hookworm control.

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Staying moving, staying strong: Protocol for developing culturally appropriate information for Aboriginal people with osteoarthritis, rheumatoid arthritis, lupus and gout

Addressing disparities in arthritis care is an important yet unmet health need for Aboriginal and Torres Strait Islander people in Australia (respectfully Aboriginal people herewith). Despite the significant prevalence and burden of arthritis within Aboriginal communities, access to care for arthritis is low.

Research

The COVID-19 vaccination campaign in Bhutan: strategy and enablers

Bhutan has reported a total of 2596 COVID-19 cases and three deaths as of September 15, 2021. With support from India, the United States, Denmark, the People’s Republic of China, Croatia and other countries, Bhutan was able to conduct two rounds of nationwide vaccination campaign.

Research

Status epilepticus outcomes among vaccinated and unvaccinated children: A population-based study

To determine the proportion of first status epilepticus cases that are vaccine-proximate and compare clinical outcomes to non-vaccine-proximate cases.

Research

Strengthening student social and emotional wellbeing and preventing bullying behaviours: Insights from 20 years of Friendly Schools research in Australian schools.

Strong evidence supports our current understandings of student bullying behaviours and ways schools can prevent and respond effectively to bullying behaviour. In the late 1990’s, however, little was understood about the most effective ways to reduce bullying in Australian schools. In response to schools’ need for evidence-informed action, a pipeline of research called Friendly Schools was initiated in 1999 which for the past twenty years, has provided robust whole-school evidence-based knowledge and skills to support policy makers, school staff and other practitioners working in schools and families across Australia.

Research

Olfactory dysfunction at six months after coronavirus disease 2019 infection

This study aimed to assess olfactory dysfunction in patients at six months after confirmed coronavirus disease 2019 infection. Coronavirus disease 2019 positive patients were assessed six months following diagnosis. Patient data were recoded as part of the adapted International Severe Acute Respiratory and Emerging Infection Consortium Protocol. Olfactory dysfunction was assessed using the University of Pennsylvania Smell Identification Test.

Research

Evaluation of real-life clinical outcomes in Australian youth with type 1 diabetes on hybrid closed-loop therapy: A retrospective study

To determine the clinical outcomes and evaluate the perspectives of children with Type 1 diabetes (T1D) and their parents managing their child on hybrid closed-loop (HCL) therapy.