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Research

Oral parafunction and bruxism in Rett syndrome and associated factors: An observational study

To explore patterns of parafunction, and bruxism, and its relationships with genotype and snoring in individuals with Rett syndrome.

Research

Conduct of neuro-oncology multidisciplinary team meetings and closing the "gaps" in the clinical management of childhood central nervous system tumors in a middle-income country

Multidisciplinary team meetings (MDTMs) are essential in the clinical management of pediatric central nervous system (CNS) tumors. Evaluations of the impact of MDTMs on childhood CNS tumors and clinicians' perspectives on their effectiveness are scarce.

Research

Variants associated with HHIP expression have sexdifferential effects on lung function

Lung function is highly heritable and differs between the sexes throughout life. However, little is known about sexdifferential genetic effects on lung function. We aimed to conduct the first genome-wide genotype-by-sex interaction study on lung function to identify genetic effects that differ between males and females.

Research

Developmental Origins of Health and Disease (DOHaD): The importance of life-course and transgenerational approaches

With well-established evidence that early life conditions have a profound influence on lifespan and health-span, new interventional birth cohorts are examining ways to optimise health potential of individuals and communities. These are aimed at going beyond preventing disease, to the conditions that facilitate flourishing from an early age.

Research

Unraveling the Optimum Latent Structure of Attention-Deficit/Hyperactivity Disorder: Evidence Supporting ICD and HiTOP Frameworks

Attention Deficit/hyperactivity disorder (ADHD) is conceptualized differently in the Diagnostic and Statistical Manual (DSM-5), the International Classification of Diseases-10 (ICD-10), and the Hierarchical Taxonomy of Psychopathology (HiTOP) frameworks. This study applied independent cluster confirmatory factor analysis (ICM-CFA), exploratory structure equation model with target rotation (ESEM), and the S-1 bi-factor CFA approaches to evaluate seven ADHD models yielded by different combinations of these taxonomic frameworks.

Research

Influenza disease and vaccination in children in Australia

Over the past decade, multiple initiatives have been implemented to strengthen influenza vaccination programs in Australia, with an increasing focus on children. In this article, we review these changes, the events that prompted them, and how they have influenced influenza vaccine uptake in Australia.

Research

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators.

Research

Data utilisation and factors influencing the performance of the health management information system in Tanzania

Health Management Information System (HMIS) is a set of data regularly collected at health care facilities to meet the needs of statistics on health services. This study aimed to determine the utilisation of HMIS data and factors influencing the health system's performance at the district and primary health care facility levels in Tanzania.

Research

The effect of functioning on Quality of Life Inventory-Disability measured quality of life is not mediated or moderated by parental psychological distress

The measurement of quality of life (QOL) in children with intellectual disability often relies upon proxy report via caregivers. The current study investigated whether caregiver psychological distress mediates or moderates the effects of impairment on their ratings of QOL in children with intellectual disability.

Research

Primary prevention of acute rheumatic fever

Acute rheumatic fever (ARF) is an abnormal immune reaction following Streptococcus pyogenes (Strep A) infection of the throat, and likely the skin. Primary prevention is the prompt and appropriate antibiotic treatment of Strep A infection, and it can reduce the risk of developing ARF and subsequent rheumatic heart disease.