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Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities

Reading Disability is often characterized by difficulties in the phonology of the language. While the molecular mechanisms underlying it are largely undetermined, loci are being revealed by genome-wide association studies.

Identification of distinct functional thymic programming of fetal and pediatric human γδ thymocytes via single-cell analysis

Developmental thymic waves of innate-like and adaptive-like γδ T cells have been described, but the current understanding of γδ T cell development is mainly limited to mouse models.

The role of exome sequencing in childhood interstitial or diffuse lung disease

Children’s interstitial and diffuse lung disease (chILD) is a complex heterogeneous group of lung disorders. Gene panel approaches have a reported diagnostic yield of ~ 12%. No data currently exist using trio exome sequencing as the standard diagnostic modality.

Recovery of chloroplast genomes from medieval millet grains excavated from the Areni-1 cave in southern Armenia

Panicum miliaceum L. was domesticated in northern China at least 7000 years ago and was subsequentially adopted in many areas throughout Eurasia. One such locale is Areni-1 an archaeological cave site in Southern Armenia, where vast quantities archaeobotanical material were well preserved via desiccation.

Systemic long-term metabolic effects of acute non-severe paediatric burn injury

A growing body of evidence supports the concept of a systemic response to non-severe thermal trauma. This provokes an immunosuppressed state that predisposes paediatric patients to poor recovery and increased risk of secondary morbidity.

Reducing exacerbations in children and adults with primary ciliary dyskinesia using erdosteine and/or azithromycin therapy (REPEAT trial): study protocol for a multicentre, double-blind, double-dummy, 2×2 partial factorial, randomised controlled trial

Primary ciliary dyskinesia (PCD) is a rare, progressive, inherited ciliopathic disorder, which is incurable and frequently complicated by the development of bronchiectasis. There are few randomised controlled trials (RCTs) involving children and adults with PCD and thus evidence of efficacy for interventions are usually extrapolated from people with cystic fibrosis.

Viral haemorrhagic fevers and malaria co-infections among febrile patients seeking health care in Tanzania

In recent years there have been reports of viral haemorrhagic fever (VHF) epidemics in sub-Saharan Africa where malaria is endemic. VHF and malaria have overlapping clinical presentations making differential diagnosis a challenge.

Epidemiology of hypoglycaemia in childhood-onset diabetes in Western Australia

Investigating the demographic, lifestyle and diabetes management factors associated with the incidence of severe hypoglycemia

Resilience and Posttraumatic Growth after Burn: A Review of Barriers, Enablers, and Interventions to Improve Psychological Recovery

Burn injuries are traumatic experiences that can detrimentally impact an individual’s psychological and emotional wellbeing. Despite this, some survivors adapt to psychosocial challenges better than others despite similar characteristics relating to the burn.

Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life

Research is needed to determine best practice for genomic testing in the context of child interstitial or diffuse lung disease. We explored parent's and child's health-related quality of life, parents' perceived understanding of a genomic testing study, satisfaction with information and the study and decisional regret to undertake genomic testing.