Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.

Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.

Evaluation of the effects of asymmetric lumbosacral transitional vertebra on pelvic morphology in dogs using ventrodorsal radiographs.

Background: A lumbosacral transitional vertebra (LTV) is a congenital anomaly of the caudal vertebral column. It has been associated with asymmetrical canine hip dysplasia (CHD) and cauda equina syndrome (CES) in German Shepherd dogs. This retrospective cross-sectional study aims to report the potential influence of asymmetric LTV on pelvic anatomy using ventrodorsal (VD) radiographs.

Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource.

How might members of a large, multi-institutional research and resource consortium foster justice, equity, diversity, and inclusion as central to its mission, goals, governance, and culture? These four principles, often referred to as JEDI, can be aspirational-but to be operationalized, they must be supported by concrete actions, investments, and a persistent long-term commitment to the principles themselves, which often requires self-reflection and course correction. We present here the iterative design process implemented across the Clinical Genome Resource (ClinGen) that led to the development of an action plan to operationalize JEDI principles across three major domains, with specific deliverables and commitments dedicated to each. Active involvement of consortium leadership, buy-in from its members at all levels, and support from NIH program staff at pivotal stages were essential to the success of this effort.

The Vacuolar Inositol Transporter BvINT1;1 Contributes to Raffinose Biosynthesis and Reactive Oxygen Species Scavenging During Cold Stress in Sugar Beet.

Despite a high sucrose accumulation in its taproot vacuoles, sugar beet (Beta vulgaris subsp. vulgaris) is sensitive to freezing. Earlier, a taproot-specific accumulation of raffinose was shown to have beneficial effects on the freezing tolerance of the plant.

Adherence to guidelines for incidental pulmonary nodules: insights from a Nordic survey.

Background And Purpose: There is limited data on the real-world management of incidental pulmonary nodules (IPN). In this article, we review current practices and adherence to international guidelines in the Nordic countries.

Materials And Methods: This non-interventional, observational survey study based on an online survey consisting of 13 questions.