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Research

The plural of anecdote is not data, please mind the gap

The COVID-19 pandemic introduced challenges to everyone in society but particularly so to every aspect of medical practice. It is bewildering how quickly the profession has had to respond to rapidly changing clinical landscape. Our well-established methods involve collecting and analyzing data to generate an evidence base which is then disseminated and implemented into routine clinical practice.

Research

Human erythroleukemia genetics and transcriptomes identify master transcription factors as functional disease drivers

Acute erythroleukemia (AEL or acute myeloid leukemia [AML]-M6) is a rare but aggressive hematologic malignancy. Previous studies showed that AEL leukemic cells often carry complex karyotypes and mutations in known AML-associated oncogenes.

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Epithelial Mesenchymal Transition in Respiratory Disease: Fact or Fiction

In this translational review, the mechanisms, roles, and impact of epithelial-mesenchymal transition in chronic lung diseases are discussed

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Global consensus on nutritional rickets: Implications for Australia

We conclude that updated global recommendations for therapy of nutritional rickets complement previously published position statements for Australia and New Zealand

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Early analysis of the Australian Covid-19 epidemic

As of 1 May 2020, there had been 6808 confirmed cases of COVID-19 in Australia. Of these, 98 had died from the disease. The epidemic had been in decline since mid-March, with 308 cases confirmed nationally since 14 April.

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Measuring early childhood development with The Early Human Capability Index (eHCI): a reliability and validity study in China

With the importance of early childhood development more recognized by the international society, low-cost and cross-culturally comparable measures of early childhood development is in great demand, both in China and worldwide. In this study, we aim to test the psychometrics of the Chinese version of The Early Human Capability Index (eHCI), which is designed as a measurement for school readiness in large population.

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Rheumatic heart disease in The Gambia: clinical and valvular aspects at presentation and evolution under penicillin prophylaxis

Rheumatic heart disease (RHD) remains the leading cause of cardiac-related deaths and disability in children and young adults worldwide. In The Gambia, the RHD burden is thought to be high although no data are available and no control programme is yet implemented. We conducted a pilot study to generate baseline data on the clinical and valvular characteristics of RHD patients at first presentation, adherence to penicillin prophylaxis and the evolution of lesions over time.

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Using a trauma informed practice framework to enhance understanding of and identify support strategies for behavioural difficulties in young people with Prader-Willi syndrome

Behavioural support for young people with Prader-Willi syndrome (PWS) is necessary in home and school environments. The Trauma Informed Practice (TIP) framework has been used to support young people with complex behavioural needs in school settings. To identify parent and professional perspectives on behavioural challenges experienced by young people with PWS and strategies for supports, to inform understanding of how they are aligned with the TIP framework.

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Molecular diagnosis of scabies using a novel probe-based polymerase chain reaction assay targeting high-copy number repetitive sequences in the sarcoptes scabiei genome

The suboptimal sensitivity and specificity of available diagnostic methods for scabies hampers clinical management, trials of new therapies and epidemiologic studies. Additionally, parasitologic diagnosis by microscopic examination of skin scrapings requires sample collection with a sharp scalpel blade, causing discomfort to patients and difficulty in children. Polymerase chain reaction (PCR)-based diagnostic assays, combined with non-invasive sampling methods, represent an attractive approach.

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The impact of surgical cancellations on children, families, and the health system in an Australian paediatric tertiary referral hospital

Reasons for elective surgery cancelations and their impact vary from one institution to another. Cancelations have emotional and financial implications for patients and their families. Our service has a particularly broad and geographically diverse patient population; hence, we sought to examine these impacts in our service.