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http://dx.doi.org/10.1177/18632521221083380DOI Listing

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Introduction/objectives: With redistribution of resources and time during the COVID-19 pandemic, the Thrive Bridge Clinic altered its focus, alongside the changes in the healthcare system and needs of the population. This paper describes how the Thrive clinic services have been altered between 2019 and 2022 as a result of COVID-19.

Methods: Data was collected via retrospective chart review of patient encounters.

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Article Synopsis
  • * The objective of the study was to assess the safety of the quadrivalent recombinant influenza vaccine (RIV4) compared to the quadrivalent standard-dose inactivated vaccine (SD-IIV4) among pregnant individuals and their infants.
  • * Conducted by Kaiser Permanente Northern California, the observational study analyzed various pregnancy and birth outcomes, adjusting for factors like age and comorbidities, to determine the effects of RIV4 versus SD-IIV4 vaccinations during the 201
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This article introduces the Special Issue: Selected Papers From the 2022 Apraxia Kids Research Symposium. The field of childhood apraxia of speech (CAS) has developed significantly in the past 15 years, with key improvements in understanding of basic biology including genetics, neuroscience, and computational modelling; development of diagnostic tools and methods; diversity of evidence-based interventions with increasingly rigorous experimental designs; and understanding of impacts beyond impairment-level measures. Papers in this special issue not only review and synthesize the some of the substantial progress to date but also present novel findings addressing critical research gaps and adding to the overall body of knowledge.

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  • Metastases originate from specific subsets of cancer cells that spread from the primary tumor, with their ability to thrive in new locations being impacted by genetic and epigenetic changes.
  • Certain types of cancers tend to consistently metastasize to particular tissues, indicating that the characteristics of the primary tumor play a role in determining metastatic sites.
  • Research shows that both primary and metastatic pancreatic tumors share metabolic traits and that cancer cells prefer to grow in their original site rather than in new metastatic locations, highlighting the influence of the tumor's tissue of origin on its growth and spread.
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Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Am J Hum Genet

August 2024

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

Article Synopsis
  • KMT2C and KMT2D are important enzymes that modify genes, with KMT2C haploinsufficiency recently linked to Kleefstra syndrome 2, a neurodevelopmental disorder (NDD) with unknown clinical details.
  • A study involving 98 individuals found that most pathogenic variants in KMT2C span nearly all its exons, making variant interpretation difficult; the study also established a KMT2C DNA methylation signature for better classification of the disorder.
  • Key features of KMT2C-related NDD include developmental delays, intellectual disabilities, and distinct facial characteristics, setting it apart from similar conditions like Kleefstra and Kabuki syndromes, indicating the need for its renaming and
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