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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.
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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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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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Systematic chemical and molecular profiling of MLL-rearranged infant acute lymphoblastic leukemia reveals efficacy of romidepsinIdentified romidepsin as a promising therapeutic for mixed lineage leukemia (MLL)-rearranged infant acute lymphoblastic leukemia
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Randomized controlled trial of early regular egg intake to prevent egg allergyWe aimed to determine whether regular consumption of egg protein from 4-6 month old reduced the risk of IgE-mediated egg allergy in infants without eczema.
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Repeated vaccination does not appear to impact upon influenza vaccine effectiveness against hospitalization with confirmed influenzaThese findings reinforce current recommendations for annual influenza vaccination, particularly those at greatest risk of influenza disease.
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Medulloblastoma therapy generates risk of a poorly-prognostic H3 wild-type subgroup of diffuse intrinsic pontine glioma: a report from the International DIPG RegistryThese findings provide a compelling argument for efforts to reduce exposure of the brainstem in the treatment of medulloblastoma
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Diffuse Intrinsic Pontine GliomaThis chapter summarizes recent advances in diffuse intrinsic pontine glioma and potential novel therapies
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Severe adverse events following benzathine penicillin G injection for rheumatic heart disease prophylaxis: cardiac compromise more likely than anaphylaxisThese results indicate that anaphylaxis is not a major cause of adverse reactions to benzathine penicillin G
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Technical standards for respiratory oscillometryThe aim of the task force was to provide technical recommendations regarding oscillometry measurement