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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.

Implementation of an Early Communication Intervention for Young Children with Cerebral Palsy Using Single-Subject Research Design

The implementation of an intervention protocol aimed at increasing vocal complexity in three pre-linguistic children with cerebral palsy (two males, starting age 15 months, and one female, starting age 16 months) was evaluated utilising a repeated ABA case series design. The study progressed until the children were 36 months of age. Weekly probes with trained and untrained items were administered across each of three intervention blocks.

Psychological distress and quality of life in asymptomatic adults following provision of imaging results for prevention of cardiovascular disease events: a scoping review

Psychological distress and changes in health-related quality of life may occur after screening for disease. Reporting outcomes related to potential benefits and harms of screening is a key recommendation in the guidelines for reporting high-quality trials or interventions.

SAMStat 2: quality control for next generation sequencing data

SAMStat is an efficient program to extract quality control metrics from fastq and SAM/BAM files. A distinguishing feature is that it displays sequence composition, base quality composition and mapping error profiles split by mapping quality. This allows users to rapidly identify reasons for poor mapping including the presence of untrimmed adapters or poor sequencing quality at individual read positions.

Examining the relationship between maternal mental health-related hospital admissions and childhood developmental vulnerability at school entry in Canada and Australia

It is well established that maternal mental illness is associated with an increased risk of poor development for children. However, inconsistencies in findings regarding the nature of the difficulties children experience may be explained by methodological or geographical differences.

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.

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.

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.

Acceptability of OP/Na swabbing for SARS-CoV-2: a prospective observational cohort surveillance study in Western Australian schools

When the COVID-19 pandemic was declared, Governments responded with lockdown and isolation measures to combat viral spread, including the closure of many schools. More than a year later, widespread screening for SARS-CoV-2 is critical to allow schools and other institutions to remain open.