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        277-288 of 956 results for '2012'

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        Spinal fusion in girls with Rett syndrome: Post-operative recovery and family experiences

        Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if... ...

        Research

        Temporally restricted activation of IFNβ signaling determines response to immune checkpoint therapy

        The biological determinants of the response to immune checkpoint blockade (ICB) in cancer remain incompletely understood. Little is known about dynamic biological events that underpin therapeutic efficacy due to the inability to frequently sample tumours in patients. ...

        Research

        Antifungal therapy in infants and children with proven, probable or suspected invasive fungal infections

        This review aims to systematically identify and summarise the effects of different antifungal therapies in children with proven, probable or suspected... ...

        Research

        The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

        Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2). ...

        Research

        Investigating genotype-phenotype relationships in Rett syndrome using an international data set

        This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in... ...

        Research

        Influenza and pertussis vaccine coverage in pregnancy in Australia, 2016-2021

        Vaccination in pregnancy is the best strategy to reduce complications from influenza or pertussis infection in infants who are too young to be protected directly from vaccination. Pregnant women are also at risk of influenza complications preventable through antenatal vaccination. Both vaccines are funded under the National Immunisation Program for pregnant women in Australia, but coverage is not routinely reported nationally.  ...

        Research

        Herpes simplex virus in infancy: Evaluation of national surveillance case capture

        As herpes simplex virus in infancy is not a mandatory notifiable condition in Australia, completeness of ascertainment by the Australian Paediatric Surveillance Unit (APSU) has been difficult to evaluate to date. We evaluated case capture in Queensland and Western Australia using statewide laboratory and clinical data and complementary surveillance data collected via the APSU. ...

        Research

        Cystic Fibrosis Early Surveillance Program

        Stephen Yuliya Stick Karpievitch SM YK MB BChir PhD MRCP FRACP PhD, MS, BS Head, P4 Respiratory Health for Kids Ai and Data Analytics Lead, Respiratory Research +61863191356 yuliya.karpievitch@telethonkids.org.au Head, P4 Respiratory Health for Kids ...

        Research

        Reproducible Bioinformatics Analysis Workflows for Detecting IGH Gene Fusions in B-Cell Acute Lymphoblastic Leukaemia Patients

        B-cell acute lymphoblastic leukaemia (B-ALL) is characterised by diverse genomic alterations, the most frequent being gene fusions detected via transcriptomic analysis (mRNA-seq). Due to its hypervariable nature, gene fusions involving the Immunoglobulin Heavy Chain (IGH) locus can be difficult to detect with standard gene fusion calling algorithms and significant computational resources and analysis times are required. We aimed to optimize a gene fusion calling workflow to achieve best-case sensitivity for IGH gene fusion detection. ...

        Research

        Increase in invasive group A streptococcal disease among Australian children coinciding with northern hemisphere surges

        Increases in invasive group A streptococcal disease (iGAS) have recently been reported in multiple countries in the northern hemisphere, occurring during, and outside of, typical spring peaks. We report the epidemiology of iGAS among children in Australia from 1 July 2018 to 31 December 2022. ...

        Research

        Cardiometabolic Risk Markers for Aboriginal and Torres Strait Islander Children and Youths: A Systematic Review of Data Quality and Population Prevalence

        Cardiovascular disease and type 2 diabetes mellitus are leading contributors to the health inequity experienced by Aboriginal and Torres Strait Islander peoples, and their antecedents can be identified from early childhood. We aimed to establish the quality of available data and the prevalence of cardiometabolic risk markers among Aboriginal and Torres Strait Islander children and youths (0-24-year-olds) to inform public health approaches. ...

        Research

        The Challenge of Diagnosing Invasive Pulmonary Aspergillosis in Children: A Review of Existing and Emerging Tools

        Invasive pulmonary aspergillosis remains a major cause of morbidity and mortality for immunocompromised children, particularly for patients with acute leukaemia and those undergoing haematopoietic stem cell transplantation. Timely diagnosis, using a combination of computed tomography (CT) imaging and microbiological testing, is key to improve prognosis, yet there are inherent challenges in this process. For CT imaging, changes in children are generally less specific than those reported in adults and recent data are limited. ...

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