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Showing results for "early childhood"

Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism

Seven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.

Pathways of Socioeconomic Disadvantage and Peer Bullying in Children and Youth: A Scoping Review

Growing up in socioeconomic disadvantage increases risk of peer bullying at school. Both socioeconomic status and involvement in bullying are predictive of a range of adverse developmental outcomes. However, neither (a) the mechanisms whereby disadvantage increases bullying risk nor (b) the developmental outcomes for which bullying may mediate disadvantage are clear. 

Transfers of disadvantage across three generations using latent class associations within families

There is a large volume of research on the persistence of advantage and disadvantage across generations. Intergenerational studies typically address family resources as independent factors, which ignores how risks cluster together and accumulate over time.

Sleep Disordered Breathing and Recurrent Tonsillitis Are Associated With Polymicrobial Bacterial Biofilm Infections Suggesting a Role for Anti-Biofilm Therapies

The underlying pathogenesis of pediatric obstructive sleep disordered breathing (SDB) and recurrent tonsillitis (RT) are poorly understood but need to be elucidated to develop less invasive treatment and prevention strategies.

CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.

Systematic In Vitro Evaluation of a Library of Approved and Pharmacologically Active Compounds for the Identification of Novel Candidate Drugs for KMT2A-Rearranged Leukemia

Patients whose leukemias harbor a rearrangement of the Mixed Lineage Leukemia (MLL/KMT2A) gene have a poor prognosis, especially when the disease strikes in infants. The poor clinical outcome linked to this aggressive disease and the detrimental treatment side-effects, particularly in children, warrant the urgent development of more effective and cancer-selective therapeutics.

Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal Population

Our goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians.

Not in employment, education or training (NEET); more than a youth policy issue

Australians who are Not in Employment, Education or Training (NEET) and receive income support span a wide spectrum of working ages. Australian research has concentrated on NEETs aged 15-29 years, in line with international standards. This paper investigates extending the NEET concept to include all working age persons 15-64 years and the value added to welfare policy through analysis of a new linked dataset.

Therapeutic targeting of the leukaemia microenvironment

In recent decades, the conduct of uniform prospective clinical trials has led to improved remission rates and survival for patients with acute myeloid leukaemia and acute lymphoblastic leukaemia. However, high-risk patients continue to have inferior outcomes, where chemoresistance and relapse are common due to the survival mechanisms utilised by leukaemic cells.

Associations Between Developmental Risk Profiles, Mental Disorders, and Student Absences Among Primary and Secondary Students in Australia

This study assessed if the association between mental disorders and higher student absences varies across different profiles of risk factors, and estimated the proportion of student absences associated with mental disorders. Data included responses from a nationally representative Australian survey of child and adolescent mental health.