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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 PDFDecoding brain structure to stage Alzheimer's disease pathology in Down syndrome.
Alzheimers Dement
January 2025
Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
Introduction: Alzheimer's disease (AD) in Down syndrome (DS) is associated with changes in brain structure. It is unknown if thickness and volumetric changes can identify AD stages and if they are similar to other genetic forms of AD.
Methods: Magnetic resonance imaging scans were collected for 178 DS adults (106 nonclinical, 45 preclinical, and 27 symptomatic).
Validation 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.
SAHD-10: Development and initial validation of a short version of the Schedule of Attitudes Toward Hastened Death based on a large multinational sample.
Palliat Support Care
January 2025
Department of Palliative Medicine, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany.
Objectives: Wishes to hasten death (WTHDs) are common in patients with serious illness. The Schedule of Attitudes Toward Hastened Death (SAHD) is a validated 20-item instrument for measuring WTHD. Two short versions have also been developed based on statistical item selection.
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