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        What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

        The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study... ...

        Research

        An expanded phenotype centric benchmark of variant prioritisation tools

        Identifying the causal variant for diagnosis of genetic diseases is challenging when using next-generation sequencing approaches and variant prioritization tools can assist in this task. These tools provide in silico predictions of variant pathogenicity, however they are agnostic to the disease under study. We previously performed a disease-specific benchmark of 24 such tools to assess how they perform in different disease contexts. ...

        Research

        Where were those rabbits? A new paradigm to determine cerebral lateralisation of visuospatial memory function in children

        In the majority of people, functional differences are observed between the two cerebral hemispheres: language production is typically subserved by the left... ...

        Research

        The cumulative effect of inflammation and infection on structural lung disease in early cystic fibrosis

        Pulmonary inflammation in surveillance bronchoalveolar lavage has a cumulative effect on structural lung disease extent, more so than infection ...

        Research

        Has a national policy guideline influenced the practice of raising the topic of alcohol and breastfeeding by maternal healthcare practitioners?

        Having a national policy guideline for safe alcohol consumption during lactation has not promoted awareness of this topic among maternal health practitioners ...

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        A population health approach in education to support children's early development: A Critical Interpretive Synthesis

        The results from this review indicate that it would indeed be plausible to adapt the population health approach to sites and schools ...

        Research

        Clinical Implications of Minimal Residual Disease Detection in Infants With KMT2A-Rearranged Acute Lymphoblastic Leukemia Treated on the Interfant-06 Protocol

        Infant acute lymphoblastic leukemia (ALL) is characterized by a high incidence of KMT2A gene rearrangements and poor outcome. We evaluated the value of minimal residual disease (MRD) in infants with KMT2A-rearranged ALL treated within the Interfant-06 protocol, which compared lymphoid-style consolidation (protocol IB) versus myeloid-style consolidation (araC, daunorubicin, etoposide/mitoxantrone, araC, etoposide). ...

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        Complications associated with paediatric airway management during the COVID-19 pandemic: an international, multicentre, observational study

        Respiratory adverse events in adults with COVID-19 undergoing general anaesthesia can be life-threatening. However, there remains a knowledge gap about respiratory adverse events in children with COVID-19. We created an international observational registry to collect airway management outcomes in children with COVID-19 who were having a general anaesthetic. ...

        Research

        Brief Report: Facial Asymmetry and Autistic-Like Traits in the General Population

        Atypical facial morphology, particularly increased facial asymmetry, has been identified in some individuals with Autism Spectrum Conditions (ASC). Many cognitive, behavioural and biological features associated with ASC also occur on a continuum in the general population. ...

        Research

        Effective targeting of the P53-MDM2 axis in preclinical models of infant MLL-rearranged acute lymphoblastic leukemia.

        This study describes the development and molecular characterization of a panel of patient-derived infant leukemia oncogene xenografts and their sensitivity... ...

        Research

        Antecedent hypoglycaemia does not diminish the glycaemia-increasing effect and glucoregulatory responses of a 10 s sprint in people with type 1 diabetes

        The purpose of this study was to investigate whether antecedent hypoglycaemia impairs the glycaemia-raising effect of a 10 s sprint in individuals with type... ...

        Research

        A study of handling cytotoxic drugs and risk of birth defects in offspring of female veterinarians

        This paper examined the association of occupational exposure to handling cytotoxic drugs at work with risk of birth defects among a cohort of female... ...

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