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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndromeIn 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity.
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Advances in Exercise and Nutrition as Therapy in DiabetesWe surveyed 2200 potentially eligible titles on PubMed and other common search engines for manuscripts on “exercise, nutrition, and diabetes” published between July 1, 2019, and June 30, 2020. This year's articles tended to focus on testing new applications for exercise management, including new insulin treatment approaches, wearables, and new smartphone applications.
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Barriers and Considerations for Diagnosing Rare Diseases in Indigenous PopulationsAdvances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequently experiencing diagnostic and therapeutic inequities. The International Rare Disease Research Consortium (IRDiRC) multi-stakeholder partnership has been advancing toward the vision of all people living with a rare disease receiving an accurate diagnosis, care, and available therapy within 1 year of coming to medical attention. In order to further progress toward this vision, IRDiRC has created a taskforce to explore the access barriers to diagnosis of rare genetic diseases faced by Indigenous peoples, with a view of developing recommendations to overcome them.
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Spatial and temporal patterns of dengue incidence in Bhutan: a Bayesian analysisThis study aimed to quantify the spatial and temporal patterns of dengue and their relationship to environmental factors in dengue-affected areas
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An international cohort study of birth outcomes associated with hospitalized acute respiratory infection during pregnancyAcute respiratory or febrile illness hospitalization during pregnancy was associated with increased risk of preterm birth and low birthweight birth
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Advances in Exercise, Physical Activity, and DiabetesWe screened more than 750 potentially eligible titles on PubMed and other common search engines for manuscripts on “exercise and diabetes”
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Short-term changes in frequencies of circulating leukocytes associated with narrowband UVB phototherapy in people with clinically isolated syndromeSince B cells are increasingly targeted by MS therapies, the effects of narrowband UVB phototherapy in people with MS should be investigated further
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Evaluation of a public education campaign to support parents to reduce adolescent alcohol useThe Parents, Young People and Alcohol campaign achieved high awareness and positively influenced parental outcomes
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Correlation of ultra-low dose chest CT findings with physiologic measures of asbestosisThis study aimed to determine the relationship between ULDCT-ILD and measures of pulmonary function in an asbestos-exposed population.
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Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndromeThe genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies.