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Research
Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 LocusIn about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The ATAD3 locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively.
Research
Rheumatic heart disease: Tools for implementing programmesThis article discusses the World Health Organization program for monitoring & managing rheumatic heart disease.
Research
Absence of germline mutations in BAP1 in sporadic cases of malignant mesotheliomaMalignant mesothelioma (MM) is a uniformly fatal tumour caused predominantly by exposure to asbestos.
Research
Calcium and Vitamin D for obesity: review of randomized controlled trialsObesity often coexists with low calcium intake and vitamin D insufficiency.
Our study investigated the quality of measurements obtained using the Rett Syndrome Gross Motor Scale.
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CGM start-up sessionsDiabetes WA is providing free ‘start-up’ information and training sessions for families new to CGM, in partnership with PMH.
Want to know how to be involved with WAERP? Or how long the project is running for? View our Frequently Asked Questions (FAQs) for answers to these questions and more.
Research
Study protocol for controlled human infection for penicillin G against Streptococcus pyogenes: a double-blinded, placebo-controlled, randomised trial to determine the minimum concentration required to prevent experimental pharyngitis (the CHIPS trial)Regular intramuscular benzathine penicillin G injections have been the cornerstone of rheumatic heart disease (RHD) secondary prophylaxis since the 1950s. As the pharmacological correlate of protection remains unknown, it is difficult to recommend changes to this established regimen. Determining the minimum effective penicillin exposure required to prevent Streptococcus pyogenes infection will accelerate development of new long-acting penicillins for RHD prevention as well as inform opportunities to improve existing regimens. The CHIPS trial will address this knowledge gap by directly testing protection afforded by different steady state plasma concentrations of penicillin in an established model of experimental human S. pyogenes pharyngitis.