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Research

Ethics and equity in rare disease research and healthcare

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.

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Early surveillance of infants and preschool children with cystic fibrosis

Sensitive and non-invasive surveillance tools are needed for the clinical management of infants and preschool children with cystic fibrosis (CF). The lung clearance index from the multiple breath washout and functional and morphological outcomes from magnetic resonance imaging provide promising alternatives to current gold standard techniques. Early detection and treatment of lung disease during this important period offers the opportunity to improve the quality of life for individuals with CF.

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The longitudinal relationship between BOLD signal variability changes and white matter maturation during early childhood

Intra-individual transient temporal fluctuations in brain signal, as measured by fMRI blood oxygenation level dependent (BOLD) variability, is increasingly considered an important signal rather than measurement noise.

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Effectiveness of seasonal trivalent influenza vaccination against hospital-attended acute respiratory infections in pregnant women

Influenza vaccination during pregnancy was associated with significantly fewer hospital attendances for ARI in pregnant women

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Probiotics for treatment and primary prevention of allergic diseases and asthma: looking back and moving forward

Review treatment and primary prevention studies, recent meta-analyses, and discuss the current understanding of the role of probiotics in this context

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Chronic HIV-1 infection induces B-cell dysfunction that is incompletely resolved by long-term antiretroviral therapy

B-cell dysfunction persists in patients with HIV receiving long-term antiretroviral therapy. the causes and consequences of this require further investigation.

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CCI-007, a novel small molecule with cytotoxic activity against infant leukemia with MLL rearrangements

Identified CCI-007 as a novel small molecule that displays rapid toxicity towards a subset of MLL-r, CALM-AF10 and SET-NUP214 leukemia cell lines

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Levels of innate immune factors in preterm and term mothers' breast milk during the 1st month postpartum

Preterm breast milk contains significantly higher concentrations of some immune proteins than term breast milk

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Theory-Based Design and Development of a Socially Connected, Gamified Mobile App for Men About Breastfeeding (Milk Man)

The development of Milk Man followed a best practice approach, including the involvement of a multidisciplinary team and grounding in behavior change theory

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Baseline grey matter volume of non-transitioned "ultra high risk" for psychosis individuals with and without attenuated psychotic symptoms at long-term follow-up

This study found that differences in regional grey matter volume are discernible at an early stage of ultra-high risk psychosis