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Research

Severity Assessment in CDKL5 Deficiency Disorder

A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.

Research

Decreasing Trends in Mean HbA1c Are Not Associated With Increasing Rates of Severe Hypoglycemia in Children

There have been concurrent improvements in HbA1c and decreasing severe hypoglycemia rates in two pediatric cohorts of type 1 diabetes

Research

Influenza vaccination in pregnancy among a group of remote dwelling Aboriginal and Torres Strait Islander mothers in the Northern Territory

We examined uptake of inactivated influenza vaccination in pregnancy and report adverse birth outcomes amongst a predominantly unvaccinated group

Research

Understanding acute burn injury as a chronic disease

The review will outline evidence of long-term health effects, possible mechanisms linking burn injury to long-term health and current research into burns as a chronic disease

Research

Validation of an Asbestos Job-Exposure Matrix (AsbJEM) in Australia: Exposure-Response Relationships for Malignant Mesothelioma

Accuracy of the AsbJEM in determining exposure-response relationships between asbestos exposure estimates and malignant mesothelioma incidence

Research

An update on allergy and anaphylaxis in pediatric anesthesia

We review the pathophysiology of hypersensitivity reactions and the implications for anesthesia of food allergy, atopy, and family history of allergy in children

Research

Optimisation of multiplex immunofluorescence for a non-spectral fluorescence scanning system

Here we present two 5-colour immunofluorescence panels designed for T cell characterisation in human colorectal tissue

Research

C1 CAGE detects transcription start sites and enhancer activity at single-cell resolution.

We introduce C1 CAGE, a method for the detection of transcript 5'-ends with an original sample multiplexing strategy in the C1TM microfluidic system

Research

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

There is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care

Research

Ground zero—the airway epitheliumNew Page

This chapter will discuss the structure of the airway highlighting the now broad number of cell types that comprise it