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Research

Clinical practice guidelines for paediatric X-linked hypophosphataemia in the era of burosumab

X-linked hypophosphataemia (XLH), the most common inherited form of rickets, is caused by a PHEX gene mutation that leads to excessive serum levels of fibroblast growth factor 23 (FGF23). This leads to clinical manifestations such as rickets, osteomalacia, pain, lower limb deformity and overall diminished quality of life.

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"Capturing the magic": identifying the active ingredients of a physical activity participation intervention for children and youth with disabilities

This study aimed to define the active ingredients of a participation-focused physical activity intervention for children and youth with disabilities.

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Neonatal sepsis: a systematic review of core outcomes from randomised clinical trials

The lack of a consensus definition of neonatal sepsis and a core outcome set proves a substantial impediment to research that influences policy and practice relevant to key stakeholders, patients and parents.

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Rheumatic Heart Disease in Pregnancy: New Strategies for an Old Disease?

RHD in pregnancy (RHD-P) is associated with an increased burden of maternal and perinatal morbidity and mortality. A sequellae of rheumatic fever resulting in heart valve damage if untreated, RHD is twice as common in women. In providing an historical overview, this commentary provides context for prevention and treatment in the 21 st century. Four underlying themes inform much of the literature on RHD-P: its association with inequities; often-complex care requirements; demands for integrated care models, and a life-course approach.

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Reporting Both Unadjusted and Adjusted Estimates Is Essential to the Interpretation of Randomized Clinical Trial Results - Reply

Andrew Matt Videos Whitehouse Watch and listen to Andrew Cooper PhD BCA Marketing, BSc Statistics and Applied Statistics, PhD Deputy Director (

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Systematic In Vitro Evaluation of a Library of Approved and Pharmacologically Active Compounds for the Identification of Novel Candidate Drugs for KMT2A-Rearranged Leukemia

Patients whose leukemias harbor a rearrangement of the Mixed Lineage Leukemia (MLL/KMT2A) gene have a poor prognosis, especially when the disease strikes in infants. The poor clinical outcome linked to this aggressive disease and the detrimental treatment side-effects, particularly in children, warrant the urgent development of more effective and cancer-selective therapeutics.

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Addressing Race in Pulmonary Function Testing by Aligning Intent and Evidence With Practice and Perception

The practice of using race or ethnicity in medicine to explain differences between individuals is being called into question because it may contribute to biased medical care and research that perpetuates health disparities and structural racism.

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Global distribution of human hookworm species and differences in their morbidity effects: a systematic review

The global distribution and morbidity effects for each specific hookworm species is unknown, which prevents implementation of the optimum intervention for local hookworm control.

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Women with type 1 diabetes exhibit a progressive increase in gut Saccharomyces cerevisiae in pregnancy associated with evidence of gut inflammation

Studies of the gut microbiome have focused on its bacterial composition. We aimed to characterize the gut fungal microbiome (mycobiome) across pregnancy in women with and without type 1 diabetes.

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The COVID-19 vaccination campaign in Bhutan: strategy and enablers

Bhutan has reported a total of 2596 COVID-19 cases and three deaths as of September 15, 2021. With support from India, the United States, Denmark, the People’s Republic of China, Croatia and other countries, Bhutan was able to conduct two rounds of nationwide vaccination campaign.