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Updating the profile of C-terminal MECP2 deletions in Rett syndrome

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations

UV exposure and protection against allergic airways disease

Asthma is a chronic inflammatory disease of the small and large conducting airway mucosa characterised by Th2 cell immunity.

The factor structure of the eating disorder examination in clinical and community samples

We investigated whether children who are heavier at birth have an increased risk of type 1 diabetes

Skull base osteomyelitis: Fungal versus Bacterial Infection

An 18-year (1990-2007) retrospective review of patients with Skull-base osteomyelitis (SBO) presenting to Westmead Hospital was performed.

Impact of Neuritin 1 (NRN1) polymorphisms on fluid intelligence in schizophrenia

Neuritin 1, an activity-regulated gene with multiple roles in neurodevelopment & synaptic plasticity, is linked to a subtype of schizophrenia.

Toward improved prediction of risk for atopy and asthma among preschoolers: A prospective cohort study

Atopy and asthma are commonly initiated during early life, and there is increasing interest in the development of preventive treatments for at-risk children.

Conservation of gene expression patterns between the amniotic and nasal epithelium at birth

Amniotic epithelial cells are fetal-derived stem cells, capable of differentiating into all three germ layers, including mature epithelial cell populations. Here, we hypothesised that the amniotic epithelium might serve as a surrogate tissue source for investigating transcriptional profiles in the respiratory epithelium of newborns.

Beyond bone: the emerging role of osteoclasts in immune regulation, leukemia development and following myeloablative therapy

Osteoclasts are important regulators of bone remodeling, with an established role in maintaining skeletal homeostasis. The emergence of osteoimmunology has identified osteoclasts as key players in the immune system. In particular, osteoclasts can initiate bi-directional crosstalk mechanisms with hematopoietic stem cells and various immune cells, such as T cells, B cells and NK cells, to influence hematopoiesis and inflammatory response.

A primary cell model of the very preterm epithelium reveals barrier defects at 1 year of age

Limited evidence suggests that airway epithelial structure and function is disrupted in very preterm infants; however, the epithelial morphology and physiology has not been well characterised following discharge from neonatal intensive care. This study aimed to characterise the nasal airway epithelium from 1-year-old survivors of very preterm birth.

Health literacy scale for English-speaking children: translation and validation of the HLS-Child-Q15-EN

To translate and validate the HLS-Child-Q15, a relatively short questionnaire for assessing health literacy in children originally validated in German, into English to make it accessible to a large population of English-speaking children.