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Research
Parental perspectives on the communication abilities of their daughters with Rett syndromeHow females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication
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A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control StudiesThese results highlight how UNICORN can enable reliable, powerful, and convenient genetic association analyses without access to the individual-level data
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Folate pathway gene polymorphisms, maternal folic acid use, and risk of childhood acute lymphoblastic leukaemiaSeveral studies suggest that maternal folic acid supplementation before or during pregnancy protects against childhood acute lymphoblastic leukaemia (ALL).
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Optimization is required when using linked hospital and laboratory data to investigate respiratory infectionsChart review to validate linked microbiological data
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The gut microbiota and inflammatory noncommunicable diseases: Associations and potentials for gut microbiota therapiesThis article discusses the relationships between gut colonization & inflammatory noncommunicable diseases, in regards to their treatment and prevention.
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The PneuCarriage Project: A Multi-Centre Comparative Study to Identify the Best Serotyping Methods for Examining Pneumococcal CarriageThe PneuCarriage project, a large, international multi-centre study for the identification of the best pneumococcal serotyping methods for carriage studies
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Off-season RSV epidemics in Australia after easing of COVID-19 restrictionsHuman respiratory syncytial virus (RSV) is an important cause of acute respiratory infection with the most severe disease in the young and elderly. Non-pharmaceutical interventions and travel restrictions for controlling COVID-19 have impacted the circulation of most respiratory viruses including RSV globally, particularly in Australia, where during 2020 the normal winter epidemics were notably absent.
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Clindamycin adjunctive therapy for severe Staphylococcus aureus treatment evaluation (CASSETTE)-an open-labelled pilot randomized controlled trialCombination antibiotic therapy with an antitoxin agent, such as clindamycin, is included in some guidelines for severe, toxin-mediated Staphylococcus aureus infections. The evidence to support this practice is currently limited to in vitro, animal and observational human case-series data, with no previous randomized controlled trials (RCTs).
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CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural inductionAn estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.
Affecting approximately 400 people in Australia, Rett syndrome is a rare neurological disorder that occurs almost exclusively in girls and affects mobility and development, impacting everything from walking and talking to eating and breathing.