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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 PDFProspective validation study of a combined urine and plasma test for predicting high-grade prostate cancer in biopsy naïve men.
Scand J Urol
January 2025
Department of Urology, Odense University Hospital, Odense, Denmark; Academy of Geriatric Cancer Research (AgeCare), Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
Objective: Early and accurate diagnosis of prostate cancer (PC) is crucial for effective treatment. Diagnosing clinically insignificant cancers can lead to overdiagnosis and overtreatment, highlighting the importance of accurately selecting patients for further evaluation based on improved risk prediction tools. Novel biomarkers offer promise for enhancing this diagnostic process.
View Article and Find Full Text PDFComparison of Recruitment Method on Clinical Outcomes Following Cervical Disc Arthroplasty.
Spine (Phila Pa 1976)
January 2025
Indiana Spine Group Location of investigation Indiana Spine Group, 13225 N. Meridian Street, Carmel, IN 46032.
Study Design: Retrospective cohort.
Objective: To compare the clinical outcomes of trial versus standard clinical practice (SCP) patients following cervical disc arthroplasty (CDA).
Background: CDA is hypothesized to reduce the shear strain and related complications resulting from fusion procedures.
Deficient 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 PDFSAHD-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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