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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.
Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and a review of the first 3 years.
Genet Med
January 2025
Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa. Electronic address:
Purpose: Universal newborn hearing screening (UNHS) programs using audiometric techniques alone are limited in ability to detect non-congenital childhood permanent hearing loss (PHL). In 2019, Ontario launched universal newborn screening (NBS) for PHL risk factors: congenital cytomegalovirus (cCMV) and 22 common variants in GJB2 and SLC26A4. Here we describe our experience with genetic risk factor screening.
View Article and Find Full Text PDFEffects of the Transcutaneous Electrical Stimulation System on Heartburn, Regurgitation and Esophageal Acid Exposure in GERD Patients-An Uncontrolled Feasibility Study.
Neurogastroenterol Motil
January 2025
Division of Gastroenterology, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.
Background: Proton pump inhibitors (PPI) for gastroesophageal reflux disease (GERD) are associated with a high failure rate. Our uncontrolled feasibility study aimed determining the effect of a transcutaneous electrical stimulation system (TESS) on GERD symptoms and acid exposure time (AET).
Methods: Recruited patients with heartburn and regurgitation.
Discovery of New Benzohydrazide Derivatives Containing 4-Aminoquinazoline as Effective Agricultural Fungicides, the Related Mechanistic Study, and Safety Assessment.
J Agric Food Chem
January 2025
State Key Laboratory of Green Pesticides, Key Laboratory of Green Pesticide and Agricultural Bioengineering, Ministry of Education, Center for Research and Development of Fine Chemicals, Guizhou University, Guiyang 550025, PR China.
A total of 38 new benzohydrazide derivatives bearing the 4-aminoquinazoline moiety were designed and synthesized based on the active subunit combination approach and tested in detail for their inhibition activities against eight agricultural phytopathogenic fungi. The bioassay results indicated that many of the synthesized compounds exhibited extraordinary fungicidal activities in vitro against the tested fungi. For example, compounds , , , and had EC (half-maximal effective concentration) values of 0.
View Article and Find Full Text PDFAnti-arthritic potential of crude sulfated polysaccharide from marine macroalgae (Turner) C. Agardh: Regulation of cytokine cascade.
Biomol Concepts
January 2025
Division of Pharmacology, School of Medical and Life Sciences, Sunway University, No. 5, Jalan Universiti, Bandar Sunway, 47500 Selangor Darul Ehsan, Malaysia.
Seaweeds have been utilized as food, fodder, fertilizer, and medicine since ancient times; nevertheless, they have received only a little attention. In the current work, we extracted the sulfated polysaccharide from a marine source and investigated its anti-arthritic potential . The isolated and freeze-dried polysaccharide was tested for acute oral toxicity based on OECD 423.
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