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Research

The collective impact of rare diseases in Western Australia: An estimate using a population-based cohort

This cohort study provides new evidence of a disparity between the proportion of the population with rare diseases and their combined health-system costs

Research

Early childhood development of boys with genital anomalies

We found no increased risk of poor development among boys with hypospadias or undescended testis

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Early introduction of food reduces food allergy – Pro and Con

When an infant is developmentally ready, a variety of nutritious foods should be introduced including the ‘more allergenic’ foods during infancy

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Somatosensory discrimination intervention improves body position sense and motor performance in children with hemiplegic cerebral palsy

The intervention group improved in goal performance, proprioception, and bimanual hand use and maintained improvement at 6-mo follow-up.

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Prevalence of microcephaly in an Australian population-based birth defects register, 1980-2015

We identified a high proportion of cases without known cause, highlighting the need for clinicians to carefully investigate all possibilities, including emerging infections.

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Mental health problems among 4–17-year-olds with hearing problems: results from a nationally representative study

Clinicians caring for children and young people with hearing problems should be alert for heightened risk of specific mental health problems based on age and the nature of hearing problems.

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A comparative molecular and 3-dimensional structural investigation into cross-continental and novel avian Trypanosoma spp. in Australia

Here, we confirm four intercontinental species of avian trypanosomes in native Australian birds, and identify a new avian Trypanosoma.

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ERS technical standard on bronchial challenge testing: General considerations and performance of methacholine challenge tests

This international task force report updates general considerations for bronchial challenge testing and the performance of the methacholine challenge test.

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Initiating an undiagnosed diseases program in the Western Australian public health system

We describe the initiation and summary outcomes of a public health system approach for complex undiagnosed patients- the Undiagnosed Diseases Program - WA

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Production of IgG antibodies to pneumococcal polysaccharides is associated with expansion of ICOS+ circulating memory T follicular-helper cells which is impaired by HIV infection

Dysfunction of T follicular-helper cells is a possible cause of impaired germinal centre and IgG antibody responses in individuals with HIV