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Spatial analysis of hepatobiliary abnormalities in a population at high-risk of cholangiocarcinoma in ThailandCholangiocarcinoma (CCA) is a serious health challenge with low survival prognosis. The liver fluke, Opisthorchis viverrini, plays a role in the aetiology of CCA, through hepatobiliary abnormalities: liver mass (LM), bile duct dilation, and periductal fibrosis (PDF). A population-based CCA screening program, the Cholangiocarcinoma Screening and Care Program, operates in Northeast Thailand. Hepatobiliary abnormalities were identified through ultrasonography.
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Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 MutantsClC-7 is a chloride-proton antiporter of the CLC protein family. In complex with its accessory protein Ostm-1, ClC-7 localizes to lysosomes and to the osteoclasts' ruffled border, where it plays a critical role in acidifying the resorption lacuna during bone resorption. Gene inactivation in mice causes severe osteopetrosis, neurodegeneration, and lysosomal storage disease. Mutations in the human CLCN7 gene are associated with diverse forms of osteopetrosis.
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SMART Work Design: Accelerating the Diagnosis of Rare Diseases in the Western Australian Undiagnosed Diseases ProgramThe accurate and efficient diagnosis of rare diseases, many of which include congenital anomalies, depends largely on the specialists who diagnose them - including their ability to work alongside specialists from other fields and to take full advantage of cutting-edge precision medicine technologies and precision public health approaches.
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The influence of the early childhood education and care environment on young children’s physical activityThe PLAYCE Study instruments provide reliable measures of early childhood education and care physical activity environments
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Comparative Postmarket Safety Profile of Adjuvanted and High-Dose Influenza Vaccines in Individuals 65 Years or OlderThe findings of this postmarketing assessment of the safety of 2 new enhanced influenza vaccines support confidence in ongoing vaccine use
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BCG vaccination-induced emergency granulopoiesis provides rapid protection from neonatal sepsisWe found that BCG, in a mouse model of neonatal polymicrobial sepsis, induced granulocyte colony-stimulating factor (G-CSF) within hours of administration
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Host-dependent resistance of Group A Streptococcus to sulfamethoxazole mediated by a horizontally-acquired reduced folate transporterDescribed antimicrobial resistance mechanisms enable bacteria to avoid the direct effects of antibiotics and can be monitored by in vitro susceptibility testing and genetic methods. Here we describe a mechanism of sulfamethoxazole resistance that requires a host metabolite for activity.
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A brief history of MECP2 duplication syndrome: 20-years of clinical understandingMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.
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An investigation of a novel broad autism phenotype: increased facial masculinity among parents of children on the autism spectrumThe broad autism phenotype commonly refers to sub-clinical levels of autistic-like behaviour and cognition presented in biological relatives of autistic people. In a recent study, we reported findings suggesting that the broad autism phenotype may also be expressed in facial morphology, specifically increased facial masculinity.
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School readiness is more than the child: a latent class analysis of child, family, school and community aspects of school readinessIn this paper, we aim to contribute to the understanding of the multidimensional nature of school readiness. In a sample of over 4,000 Australian children in their first year of school, we used latent class analysis to examine patterns of school readiness based on child, family, school and community characteristics, and examine the relationship between these patterns of school readiness and subsequent outcomes (reading comprehension, school absence and emotional and behavioural difficulties).