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Research

Research focused on Down syndrome has increased in the last several years to advance understanding of the consequences of trisomy 21 (T21) on molecular and cellular processes and, ultimately, on individuals with Down syndrome. The Trisomy 21 Research Society (T21RS) is the premier scientific organization for researchers and clinicians studying Down syndrome.

Research

This study evaluated the efficacy of using a hybrid closed loop system in restoring hypoglycemia awareness in individuals with impaired awareness of hypoglycemia. Participants with IAH (Gold score ≥4) were recruited into a randomized crossover pilot study.

Research

Infectious diseases such as tuberculosis (TB), malaria and soil-transmitted helminthiasis continue to impose a significant global health burden and socio-economic impact. Globally, minority indigenous people are disproportionately affected by poverty and are shown to experience a disparate burden of disease and poorer health outcomes than the comparative majority population.

Research

Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing.

Research

Insecticide-treated nets (ITNs) are one of the most widespread and impactful malaria interventions in Africa, yet a spatially-resolved time series of ITN coverage has never been published. Using data from multiple sources, we generate high-resolution maps of ITN access, use, and nets-per-capita annually from 2000 to 2020 across the 40 highest-burden African countries.

Research

Emerging research suggests that maternal immune activation (MIA) may be associated with an increased risk of adverse neurodevelopmental and mental health outcomes in offspring. Using data from the Raine Study, we investigated whether MIA during pregnancy was associated with increased behavioral and emotional problems in offspring longitudinally across development.

Research

NUT carcinoma (NC), previously known as NUT midline carcinoma, is a rare and very aggressive cancer that occurs in both children and adults. NC is largely chemoresistant, with an overall survival of less than 7 months. Because the carcinoma is not restricted to a particular organ, diagnosis is often a challenge. In the absence of a clearly determined incidence for NC, we sought to study the diagnosis of patients in a well-defined population.

Research

Occupational therapy research has not fully utilized available research methods when exploring occupational therapists' views on specific interventions and service provision nor when exploring consumer priorities and the impact of occupational therapy services. Q methodology, a quantitative method for the systematic assessment of qualitative data, is an approach that can be used to examine viewpoints related to occupational therapy.

Research

Although pregnant smokers may perceive electronic cigarettes (e-cigarettes) as safe alternatives to smoking combustible cigarettes, few studies have evaluated perinatal e-cigarette use and its associated health effects. We analyzed data from the Pregnancy Risk Assessment Monitoring System (PRAMS, 2016-2018) for 16,022 women who recently gave birth and reported smoking combustible cigarettes prior to pregnancy.

Research

Regular physical activity provides children with health and developmental benefits. This study investigated if active play and walking with the family dog was associated with better social-emotional development in young children.