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Research

CMT4D disease is a severe autosomal recessive demyelinating neuropathy with extensive axonal loss leading to early disability

Research

Immunocompromised hosts experience more breakthrough infections and worse clinical outcomes following infection with COVID-19 than immunocompetent people. Prophylactic monoclonal antibody therapies can be challenging to access, and escape variants emerge rapidly. Immunity conferred through vaccination remains a central prevention strategy for COVID-19.

Research

The usual output following health consultations from paediatric services is a clinical letter to the referring professional or primary care provider, with a copy sent to the patient's caregiver. There is little research on how patients and caregivers perceive the letter content.

Research

Breastfeeding is recommended for all infants irrespective of atopic heredity, although epidemiological studies provide conflicting results in this debate.

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DACS – Diabetes Ambulatory Care Service – is a new model of care at Perth Children’s Hospital for children newly diagnosed with type 1 diabetes.

Research

In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity.

Research

The genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies.

Research

Later ultra-high risk psychosis cohorts presented with different clinical intake characteristics than earlier cohorts

Research

We present further data on vaccine efficacy (VE) against HPV-16/18 in the total vaccinated cohort including women who may have been exposed to HPV-16/18...

Research

The rate of non-compliance with vitamin D supplementation is as high as 45%. This is why randomised controlled trials are needed to analyse the response...