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        Ultra high-risk PFA ependymoma is characterized by loss of chromosome 6q

        Within PF-EPN-A, 1q gain is a marker of poor prognosis, however, it is unclear if within PF-EPN-A additional cytogenetic events exist which can refine risk stratification. ...

        Research

        Incidence and survival for childhood cancer by endorsed non-stage prognostic indicators in Australia

        Nick Gottardo NG MBChB FRACP PhD Co-Head, Brain Tumour Research nicholas.gottardo@telethonkids.org.au Co-Head, Brain Tumour Research Professor Nick Gottardo co-leads the Brain Tumour Research Programme at the Telethon Kids Institute. He is also Head ...

        Research

        The SPEC score—A quantifiable CT scoring system for primary ciliary dyskinesia

        Structural lung changes seen on computed tomography scans in persons with primary ciliary dyskinesia are currently described using cystic fibrosis derived scoring systems. Recent work has shown structural changes and frequencies that are unique to PCD, indicating the need for a unique PCD-derived scoring system. ...

        Research

        Accuracy of Central Neuro-Imaging Review of DIPG Compared with Histopathology in the International DIPG Registry

        Diffuse intrinsic pontine glioma (DIPG) remains a clinico-radiologic diagnosis without routine tissue acquisition. Reliable imaging distinction between DIPG and other pontine tumors with potentially more favorable prognoses and treatment considerations is essential. ...

        Research

        Characteristics of patients ≥10 years of age with diffuse intrinsic pontine glioma: a report from the International DIPG/DMG Registry

        Diffuse intrinsic pontine gliomas generally occur in young school-age children, although can occur in adolescents and young adults. The purpose of this study was to describe clinical, radiological, pathologic, and molecular characteristics in patients ≥10 years of age with DIPG enrolled in the International DIPG Registry. ...

        Research

        Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

        We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency. ...

        Research

        "Pre-emptive strike"-the case for early treatment of hepatic sinusoidal obstruction syndrome with defibrotide

        We describe the case of a child with a right 11th rib primitive neuroectodermal tumor who developed HSOS following focal radiotherapy and actinomycin-D treatment ...

        Research

        Collaborating with consumers: the key to achieving statutory notification for birth defects and cerebral palsy in Western Australia

        The Western Australian Birth Defects Registry and the Western Australian Cerebral Palsy Register used multiple sources of voluntary notification without... ...

        Research

        Social Gradients in Indigenous Health

        The pattern of association between socioeconomic factors and health outcomes has primarily depicted better health for those who are higher in the social... ...

        Research

        Identification and genetic determination of an early life risk disposition for depressive disorder:

        Progress in psychiatric genetics has been slow despite evidence of high heritability for most mental disorders ...

        Research

        Promoting positive perinatal mental health, parenting, cultural and spiritual wellbeing and resilience in Aboriginal parents in Western Australia

        Fiona Stanley FJ FAA FASSA MSc MD FFPHM FAFPHM FRACP FRANZCOG HonDSc HonDUniv HonFRACGP HonMD HonFRCPCH HonLLB (honoris causa) Patron 08 6319 1176 contact@telethonkids.org.au Patron Named Australian of the Year in 2003, Professor Fiona Stanley is a ...

        Research

        Veliparib Is an Effective Radiosensitizing Agent in a Preclinical Model of Medulloblastoma

        Medulloblastoma is the most common malignant childhood brain tumor, and 5-year overall survival rates are as low as 40% depending on molecular subtype, with new therapies critically important. As radiotherapy and chemotherapy act through the induction of DNA damage, the sensitization of cancer cells through the inhibition of DNA damage repair pathways is a potential therapeutic strategy. ...

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