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Research

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review

Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience

Research

Could home-based FeNO measurements breathe new life into asthma management?

Developing a FeNO test that is affordable enough to allow daily measurements, patients will be able to access quantifiable data to assist them to monitor their asthma

Research

Systematic Review of the Effects of Ultraviolet Radiation on Markers of Metabolic Dysfunction

Here we review the metabolic effects of exposure to ultraviolet radiation, focusing on the effects of phototherapies

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Vitamin D metabolites are lower with active Crohn’s disease and spontaneously recover with development of remission

We aimed to characterise vitamin D metabolism in a cohort of patients with active and inactive Crohn’s disease

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Role of HLA-DQ typing and anti-tissue transglutaminase antibody titers in diagnosing celiac disease without duodenal biopsy in type 1 diabetes

HLA-DQ typing is not cost effective as a first-line screening test for CD in T1D patients because of over-representation of CD permissive HLA alleles in this group

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Exposure to bile leads to the emergence of adaptive signaling variants in the opportunistic pathogen pseudomonas aeruginosa

Adaptive variants of P. aeruginosa that arise following long term bile exposure enables the emergence of ecologically competitive sub-populations

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Potential use of Western Australia’s mandatory Midwives Notification System for routinely monitoring antenatal vaccine coverage

We observed low sensitivity and specificity of antenatal vaccination data in the Midwives Notification System

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Pharmacological ablation of the airway smooth muscle layer—Mathematical predictions of functional improvement in asthma

Findings provide further proof of concept that pharmacological targeting of airway smooth muscle thickness will be beneficial and may be facilitated by azithromycin

Research

Technical standards for respiratory oscillometry

The aim of the task force was to provide technical recommendations regarding oscillometry measurement

Research

Maternal Alcohol-Use Disorder and Child Outcomes

The effects of maternal alcohol-use disorder are experienced by the majority of exposed children rather than a vulnerable subgroup of this population