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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.
Objective: Scleroderma-associated autoantibodies (SSc-Abs) are specific in participants (pts) with systemic sclerosis and are associated with organ involvement. Our objective was to assess the influence of baseline SSc-Abs on the trajectories of the clinical outcome assessments (COAs) in a phase III randomized controlled trial.
Methods: We used data on both the groups who received placebo (Pbo) and tocilizumab from the focuSSced trial.
Pyridine polymer tubular structures connected with polyoxometalates as bifunctional electrocatalysts for water splitting.
Dalton Trans
January 2025
School of Materials Science and Chemical Engineering, Harbin University of Science and Technology, Harbin, 150080, China.
In this work, we successfully prepared four POM-based organic-inorganic hybrids, namely, [(CHN)(CHN)][PMoO] (1), [(CHN)(CHN)][PMoO] (2), [(CHN)][PMoO]·4HO (3), and [(CHN)][PMoO] (4) (where CHN = pyridine, CHN = pyrazine, CHN = 2,7-diamino-1,3,4,6,8,9-hexaazaspiro[4.4] nonane, and CHN = 3-amino-1,2,4-triazole), using a hydrothermal method. Compounds 1 and 2 exhibited a lamellar three-dimensional structure.
View Article and Find Full Text PDFActivating the cGAS-STING Pathway by Manganese-Based Nanoparticles Combined with Platinum-Based Nanoparticles for Enhanced Ovarian Cancer Immunotherapy.
ACS Nano
January 2025
Department of Gynecology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, P. R. China.
Recent research has demonstrated that activating the cGAS-STING pathway can enhance interferon production and the activation of T cells. A manganese complex, called TPA-Mn, was developed in this context. The reactive oxygen species (ROS)-sensitive nanoparticles (NPMn) loaded with TPA-Mn are developed.
View Article and Find Full Text PDFPegloticase and Methotrexate Cotherapy in Patients With Uncontrolled Gout With Prior Pegloticase Monotherapy Failure: Findings of an Open-Label Trial.
ACR Open Rheumatol
January 2025
Amgen, Inc (formerly Horizon Therapeutics plc), Deerfield, Illinois.
Objective: Patients with uncontrolled gout have few treatment options. Pegloticase lowers serum urate (SU) levels, but antidrug antibodies limit SU-lowering response and increase infusion reaction (IR) risk. Methotrexate (MTX) cotherapy increases pegloticase response rates and lowers IR risk in pegloticase-naïve patients.
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