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Research

A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative Disease

We have revealed a novel SH2D1A gene mutation in a patient with XLP resulting in fulminant refractory EBV-driven HLH, which is a recognized severe complication

Research

Standardization of Spirometry 2019 Update. An Official American Thoracic Society and European Respiratory Society Technical Statement

Standards and consensus recommendations are presented for manufacturers, clinicians, operators, and researchers

Research

The impact of pre-pregnancy body mass index and gestational weight gain on placental abruption risk: a systematic review and meta-analysis

Mothers that are underweight prior to or in early pregnancy are at a moderately increased risk of placental abruption

Research

Inflammatory bowel diseases: interrelationships between dietary vitamin D, exposure to UV radiation and the fecal microbiome

This review explores the interaction of vitamin D, and ultraviolet radiation, with the intestinal innate and adaptive immune systems

Research

Family history of cancer and the risk of childhood brain tumors: a pooled analysis of the ESCALE and ESTELLE studies (SFCE)

Our findings support the hypothesis of a familial susceptibility of childhood brain tumors, not due to being a known neurofibromatosis carrier

Research

Use of remote monitoring with continuous glucose monitoring in young children with Type 1 diabetes: the parents’ perspective

Parents of primary school children reported that using remote monitoring and continuous glucose monitoring was a mostly beneficial experience

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Allograft outcome following repeat transplantation of patients with non-adherence-related first kidney allograft failure: a population cohort study

The associations between causes of first allograft failure and acute rejection-related and non-adherence-related allograft failure following re-transplantation

Research

Nasal Cytokine Profiles of Patients Hospitalised with Respiratory Wheeze Associated with Rhinovirus C

Medically attended RV-C-induced wheeze is characterised by a Th2 inflammatory pattern, independent of viral load

Research

Meningococcal serotype W septic arthritis: Case series in children

The epidemiology of invasive meningococcal disease has changed over the last decade and there has been an increase in cases caused by serogroup W135, particularly in Indigenous children. Extra‐meningeal and atypical presentations are associated with serogroup W and may delay diagnosis and therefore appropriate treatment. Public and clinician awareness are essential in facilitating effective new vaccine schedule implementation.

Research

Complicated skin and soft tissue infections in remote indigenous communities

The burden and consequences of skin infections for remote living indigenous people are high