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Research

Andrew Shattock PhD, MSc, BSc (Hons) Principal Research Fellow andrew.shattock@thekids.org.au Dr Andrew Shattock is a Principal Research Fellow of

Research

A type 1 diabetes (T1D) transition clinic in Sydney, Australia, provides age specific care for young adults (aged 16-25 years) and for adults (aged 21 years and above), and has reported improved clinical outcomes post transition to adult care over a 21-year period. This study investigated the contribution of digital technology to long-term resilient capacity of the clinic.

Research

Mutation-agnostic treatments such as airway gene therapy have the potential to treat any individual with cystic fibrosis (CF), irrespective of their CF transmembrane conductance regulator (CFTR) gene variants. The aim of this study was to employ two CF rat models, Phe508del and CFTR knockout to assess the comparative effectiveness of CFTR modulators and lentiviral vector-mediated gene therapy. 

Research

Organ transplantation is a well-established intervention but is reliant on the donation of organs and tissues, mostly from deceased donors. The proportion of Australians proceeding to organ donation (OD) has increased, but the proportion of Indigenous Australians proceeding remains two-thirds that of non-Indigenous Australians. We sought to explore perceived barriers and enablers for the involvement of Indigenous peoples in the OD process.

Research

A growing number of genes have been identified in individuals with cerebral palsy; however, many of these studies have poor compliance with the cerebral palsy clinical description. This systematic review aimed to assess the quality of the cerebral palsy clinical description/phenotype in cerebral palsy genetic studies published between 2010 and 2024 and report clinically relevant genes based on the quality of the cerebral palsy phenotype. 

Research

Vincristine sulphate, a microtubule inhibitor, is used extensively in veterinary oncology for treating lymphoma. Neutropenia during multiagent protocols is a common reason for treatment delay and reduced dose intensity. This study evaluated toxicities associated with treating systemically well neutropenic lymphoma patients with vincristine.

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Few studies have examined long-term outcomes following oral immunotherapy; none have examined long-term risks and benefits associated with distinct clinical outcomes (desensitization, remission).

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Azithromycin improves symptomology in various chronic airway diseases exacerbated by viral infections. However, the mechanisms underlying the apparent antiviral effects of azithromycin remain unclear.

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When investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Functional assays of higher and higher throughput are increasingly being generated and, when appropriate, can provide strong functional evidence for or against pathogenicity in variant classification. Despite functional assay data representing unprecedented value for genomic diagnostics, challenges remain around the application of functional evidence in variant curation.

Research

The aim of this study was to test the hypothesis that exercise in cool water results in a greater decrease in blood glucose concentration than in thermoneutral water or on land in individuals with type 1 diabetes.