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The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review.
Genet Med
January 2025
Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada; BC Children's Hospital Research Institute, Vancouver, BC, Canada; Women's Health Research Institute, Vancouver, BC, Canada. Electronic address:
Purpose: The increasing complexity of genetic technologies paired with more genetic tests being ordered by nongenetic healthcare providers, has resulted in an increase in the number of inappropriately ordered tests. Genetic counselors (GCs) are ideally suited to assess the appropriateness of a genetic test.
Methods: We performed a scoping review of GC involvement in utilization management initiatives in order to describe the impact of having GCs involved in this process.
Longitudinal Outcomes in Noonan Syndrome.
Genet Med
January 2025
Division of Human Genetics, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Purpose: Noonan syndrome and related disorders (NS) are multisystemic conditions affecting approximately 1:1000 individuals. Previous natural history studies were conducted prior to widespread comprehensive genetic testing. This study provides updated longitudinal natural history data in participants with molecularly confirmed NS.
View Article and Find Full Text PDFDeficient Mismatch Repair and BRAF Mutations in Metastatic Colorectal Cancer in the South Island of New Zealand.
Asia Pac J Clin Oncol
January 2025
Wellington Blood and Cancer Centre, Health New Zealand/Te Whatu Ora - Capital, Coast and Hutt Valley, Wellington, New Zealand.
Aim: Manatū Hauora, the Ministry of Health of New Zealand (NZ), published minimum standards for molecular testing of colorectal cancers (CRCs) in June 2018. These included mismatch repair (MMR) testing at diagnosis and BRAFV600E mutation analysis on newly diagnosed stage IV CRCs. This study aimed to determine the proportion of patients with CRC in the South Island of NZ with metastatic deficient mismatch repair (dMMR) CRC, the proportion of metastatic CRCs and dMMR CRCs that have a BRAFV600E mutation, and audit testing for BRAF mutations and appropriate referral to genetics services.
View Article and Find Full Text PDFValidation Status of Electronic Sphygmomanometers in China: A National Survey.
Hypertension
January 2025
Clinical Research Institute, Institute of Advanced Clinical Medicine, Peking University, Beijing, China (X.Z., W.X., Y.W.).
Background: Although the information on the validation status of electronic sphygmomanometer (ES) devices in use in health care institutions and households is much more clinically relevant than that of ES models available on the market, it remains insufficient.
Methods: A national survey was conducted across all administrative regions of mainland China to assess the validation status of ESs. Fifty-eight cities were selected with stratification by municipality, provincial capital, and other cities, and health care institutions and households in each city were chosen by convenience to identify ES devices in use according to the study protocol.
Flavonoids and Kavalactones Isolated from Seeds of Alpinia katsumadai Hayata. and Their Cytotoxic Activities.
Chem Biodivers
January 2025
Guizhou Medical University, School of Pharmaceutical Sciences, University Town, Gui'an New District, 550025, Guiyang, CHINA.
An unrevealed dihydroflavone-monoterpene conjugate (1), two unrevealed kavalactones (2-3, including one with an uncommon side chain), and thirteen previously identified compounds (4-16) were extracted from Alpinia katsumadai Hayata. seeds. The two-dimension structures of the new compounds were authenticated utilizing HRESIMS as well as NMR spectral analysis, while their absolute chiral configurations were ascertained either by correlating the experimental and simulated values of electronic circular dichroism (ECD) patterns or conducting X-ray diffraction experiments.
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