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Deletion of ERF and CIC causes abnormal skull morphology and global developmental delayThe ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the ERF gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported ERF variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however, ERF gene deletions have not been reported previously. Here we describe three probands with macrocephaly, craniofacial dysmorphology, and global developmental delay.
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Systematic Review and Meta-analysis: Mental Health in ChildrenThe behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents
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Best practice when working with suicidal behaviour and self-harm in primary care: a qualitative exploration of young people's perspectivesGeneral practitioners (GPs) have a key role in supporting young people who present with suicidal behaviour/self-harm. However, little is known about young people's opinions and experiences related to GPs' practices for such presentations, and their decisions to disclose suicidal behaviour/self-harm to GPs. Additionally, existing guidelines for the management of suicide risk and/or self-harm have not incorporated young people's perspectives. This study aimed to explore young people's views and experiences related to the identification, assessment and care of suicidal behaviour and self-harm in primary care settings with GPs.
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Prophage exotoxins enhance colonization fitness in epidemic scarlet fever-causing Streptococcus pyogenesThe re-emergence of scarlet fever poses a new global public health threat. The capacity of North-East Asian serotype M12 (emm12) Streptococcus pyogenes (group A Streptococcus, GAS) to cause scarlet fever has been linked epidemiologically to the presence of novel prophages
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Parental occupational exposure to pesticides and risk of childhood cancer in Switzerland: a census-based cohort studyPesticide exposure is a suspected risk factor for childhood cancer. We investigated the risk of developing childhood cancer in relation to parental occupational exposure to pesticides in Switzerland for the period 1990-2015.
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Antimicrobial stewardship in remote primary healthcare across northern AustraliaThe high burden of infectious disease and associated antimicrobial use likely contribute to the emergence of antimicrobial resistance in remote Australian Aboriginal communities. We aimed to develop and apply context-specific tools to audit antimicrobial use in the remote primary healthcare setting.
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What’s inside the box? Or shall we think outside the box?With the deadly and highly transmissible SARS-CoV-2 virus causing the COVID-19 pandemic, there is global concern about the danger of contaminating healthcare workers (HCW), particularly during airway management of infected patients.
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Global molecular diversity of RSV – the “INFORM RSV” studyRespiratory syncytial virus (RSV) is a global cause of severe respiratory morbidity and mortality in infants. While preventive and therapeutic interventions are being developed, including antivirals, vaccines and monoclonal antibodies, little is known about the global molecular epidemiology of RSV. INFORM is a prospective, multicenter, global clinical study performed by ReSViNET to investigate the worldwide molecular diversity of RSV isolates collected from children less than 5 years of age.
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Spatial analysis of hepatobiliary abnormalities in a population at high-risk of cholangiocarcinoma in ThailandCholangiocarcinoma (CCA) is a serious health challenge with low survival prognosis. The liver fluke, Opisthorchis viverrini, plays a role in the aetiology of CCA, through hepatobiliary abnormalities: liver mass (LM), bile duct dilation, and periductal fibrosis (PDF). A population-based CCA screening program, the Cholangiocarcinoma Screening and Care Program, operates in Northeast Thailand. Hepatobiliary abnormalities were identified through ultrasonography.
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Microbiomic Analysis on Low Abundant Respiratory Biomass Samples; Improved Recovery of Microbial DNA From Bronchoalveolar Lavage FluidIn recent years the study of the commensal microbiota is driving a remarkable paradigm shift in our understanding of human physiology. However, intrinsic technical difficulties associated with investigating the Microbiomics of some body niches are hampering the development of new knowledge. This is particularly the case when investigating the functional role played by the human microbiota in modulating the physiology of key organ systems. A major hurdle in investigating specific Microbiome communities is linked to low bacterial density and susceptibility to bias caused by environmental contamination.