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Genomic sequencing in diverse and underserved pediatric populations: parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.
Genet Med
January 2025
Genomics Ethics, and Translational Research Program, RTI International, Research Triangle Park, NC; Department of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR. Electronic address:
Purpose: Limited evidence evaluates parents' perceptions of their child's clinical genomic sequencing (GS) results, particularly among individuals from medically underserved groups. Five Clinical Sequencing Evidence-Generating Research (CSER) consortium studies performed GS in children with suspected genetic conditions with high proportions of individuals from underserved groups to address this evidence gap.
Methods: Parents completed surveys of perceived understanding, personal utility, and test-related distress after GS result disclosure.
Effect of an Electronic Pill Bottle on Hydroxychloroquine Adherence in Pediatric Lupus: Results of a Novel Direct-to-Family Pilot Trial.
ACR Open Rheumatol
January 2025
Duke University and Duke Clinical Research Institute, Durham, North Carolina.
Objective: The objective of this study was to evaluate the preliminary effectiveness of an electronic pill bottle with automated reminders on hydroxychloroquine (HCQ) adherence in children with pediatric systemic lupus erythematosus (pSLE).
Methods: This was a self-controlled, open label, direct-to-family pilot trial. Children with pSLE treated with HCQ were recruited from the Childhood Arthritis and Rheumatology Research Alliance Registry.
Assessing spatial sequencing and imaging approaches to capture the molecular and pathological heterogeneity of archived cancer tissues.
J Pathol
January 2025
The Institute for Molecular Bioscience, The University of Queensland, St Lucia, Queensland, Australia.
Spatial transcriptomics (ST) offers enormous potential to decipher the biological and pathological heterogeneity in precious archival cancer tissues. Traditionally, these tissues have rarely been used and only examined at a low throughput, most commonly by histopathological staining. ST adds thousands of times as many molecular features to histopathological images, but critical technical issues and limitations require more assessment of how ST performs on fixed archival tissues.
View Article and Find Full Text PDFAnti-Inflammatory and Antioxidant Effects of Aqueous Extract on the Liver and Kidney of PCOS Mice.
J Evid Based Integr Med
January 2025
Department of Biological Sciences, Faculty of Science, Beirut Arab University, Beirut, Lebanon.
Background: Polycystic Ovarian Syndrome (PCOS) is an endocrine disorder associated with increased risk of kidney and liver damage. Current treatments have shown contradictory outcomes, and their long-term use causes unwanted side effects. could serve as a complementary medicine to current PCOS treatments.
View Article and Find Full Text PDFStructural insights into the role of the prosegment binding loop in a papain-superfamily cysteine protease from Treponema denticola.
Acta Crystallogr F Struct Biol Commun
February 2025
Department of Structural Biology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, State University of New York, Buffalo, New York, USA.
Periodontal diseases afflict 20-50% of the global population and carry serious health and economic burdens. Chronic periodontitis is characterized by inflammation of the periodontal pocket caused by dysbiosis. This dysbiosis is coupled with an increase in the population of Treponema denticola, a spirochete bacterium with high mobility and invasivity mediated by a number of virulence factors.
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