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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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High concentrations of middle ear antimicrobial peptides and proteins are associated with detection of middle ear pathogens in children with recurrent acute otitis mediaElevated antimicrobial proteins and peptides and cytokines in middle ear effusion are a marker of inflammation and bacterial persistence
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Topical antibiotics for chronic suppurative otitis mediaWe are uncertain about the effectiveness of topical antibiotics in improving resolution of ear discharge in patients with chronic suppurative otitis media
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Invasive group A Streptococcus disease in Australian children: 2016 to 2018 - a descriptive cohort studyOur aims were to describe the epidemiological distribution of paediatric invasive group A Streptococcus disease in Australia and correlate this with influenza notifications
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'Walking their walk': Reducing conflict between families of ill children and the medical professionI review recent high-profile court cases to underscore the changing landscape of conflict and the central role that the media (and social media in particular) can play
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Effect of frequency of sensor use on glycaemic control in individuals on sensor-augmented pump therapy with and without Predictive Low Glucose Management SystemImproved frequency of sensor use improves glycaemic control
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Gender gaps in cognitive and social-emotional skills in early primary grades: Evidence from rural IndonesiaThis paper examines the magnitude and source of gender gaps in cognitive and social-emotional skills in early primary grades in rural Indonesia. Relative to boys, girls score more than 0.17 SD higher in tests of language and mathematics (cognitive skills) and between 0.18 and 0.27 SD higher in measures of social competence and emotional maturity (social-emotional skills).
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A call for global action for rare diseases in AfricaThe outcomes of the deliberations and emphasizes the international collaborative efforts required to address the global effects of rare diseases on public health
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Risk of Hospitalizations Following Gastrostomy in Children with Intellectual DisabilityGastrostomy was associated with health benefits including reduced all-cause and epilepsy hospitalizations, but was not protective against acute LRTI