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Selection of appropriate spirometry reference values in Aboriginal Australians

The Global Lung Function ‘Caucasian’ and ‘Other’ spirometry equations do not match healthy Aboriginal FEV1 and FVC data

Cochrane corner: interventions to prevent hearing loss caused by noise at work

The aim of this Cochrane Review was to find out if hearing loss caused by noise at work is being prevented by current interventions

The case for DNA methylation based molecular profiling to improve diagnostic accuracy for central nervous system embryonal tumors (not otherwise specified) in adults

We report the case of a 45-year-old woman who was diagnosed with a NOS based on immunohistochemical analysis of the patient's tumor at diagnosis.

Group A streptococcal pharyngitis: Immune responses involved in bacterial clearance and GAS-associated immunopathologies

Innate and adaptive host immune responses are fundamental for defense against streptococcal pharyngitis and are central to the clinical manifestation of disease.

NTNG1 mutations are a rare cause of Rett syndrome

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...

Early progressive encephalopathy in boys and MECP2 mutations

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...

WHO/IUIS Allergen Nomenclature: Providing a common language

Aim was to standardize the names given to the antigens (allergens) that caused IgE-mediated allergies in humans

Health conditions and their impact among adolescents and young adults with down syndrome

The aim of this study was to examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the...

Community participation: Conversations with parent-Carers of young women with Rett syndrome

In this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is...