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        385-396 of 956 results for '2012'

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        Rare childhood diseases: how should we respond?

        Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,... ...

        Research

        The diagnosis of autism in a female: could it be Rett syndrome?

        The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether... ...

        Research

        Seizures in Rett syndrome: an overview from a one-year calendar study

        Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a... ...

        Research

        Early progressive encephalopathy in boys and MECP2 mutations

        MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy... ...

        Research

        NTNG1 mutations are a rare cause of Rett syndrome

        A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT). ...

        Research

        An immunometabolomic approach to unmask developmental regulation of innate immunity and asthma risk

        Deborah James Pat Strickland Read Holt DH JR PG PhD PhD, DSc, FRCPath, FRCPI, FAA Program Head, Immunobiology and Immunotherapeutic Program Honorary Research Associate Emeritus Honorary Researcher Deb.Strickland@telethonkids.org.au james.read@ ...

        Research

        Immune checkpoint therapy responders display early clonal expansion of tumor infiltrating lymphocytes

        Immune checkpoint therapy (ICT) causes durable tumour responses in a subgroup of patients, but it is not well known how T cell receptor beta (TCRβ) repertoire dynamics contribute to the therapeutic response.  ...

        Research

        The phenotype associated with a large deletion on MECP2

        Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene. ...

        Research

        Children with secondary care episodes for otitis media have poor literacy and numeracy outcomes: A data linkage study

        We examined the association between otitis media and educational attainment in a retrospective population cohort of Western Australian children who participated in the Grade 3 National Assessment Program—Literacy and Numeracy in 2012. ...

        Research

        Immunogenicity and safety of single-dose, 13-valent pneumococcal conjugate vaccine in pediatric and adolescent oncology patients

        All children who are receiving therapy for cancer should receive a single dose of PCV13 as soon as possible after diagnosis, regardless of prior PCV exposure. ...

        Research

        Efficacy of acute myeloid leukemia therapy without stem-cell transplantation in a child with blastic plasmacytoid dendritic cell neoplasm

        Our case demonstrates that AML therapy, without HSCT, can be sufficient to treat this rare disease in children. ...

        Research

        Intellectual disability and autism prevalence in Western Australia: impact of the NDIS

        Estimates of the prevalence of intellectual disability or autism spectrum disorder may vary depending on the methodology, geographical location, and sources of ascertainment. The National Disability Insurance Scheme in Australia was introduced progressively from 2016 to provide individualized funding for eligible people with a significant and permanent disability. ...

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