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Global Perspectives on Returning Genetic Research Results in Parkinson Disease.
Neurol Genet
December 2024
From the Division of Neurology (A.H.T., S.-Y.L.), Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia; Programa de Pós-Graduação em Ciências Médicas da Universidade Federal do Rio Grande do Sul (P.S.-A.), Clínica Santa María, Santiago, Chile; Departamento de Farmacologia (A.F.S.S.), Universidade Federal do Rio Grande do Sul; Serviço de Neurologia (A.F.S.S.), Hospital de Clínicas de Porto Alegre, Brazil; Institute of Neurogenetics (H.M., M.L.D., C.K.), University of Lübeck, Germany; Department of Biomedical Science (A.A.-A.), Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia; The Michael J. Fox Foundation for Parkinson's Research (J.S., B.F.), New York; Department of Medical and Molecular Genetics (C.E.W.), Indiana University, Indianapolis; Department of Neuroscience and Brain Health (M.L.D.), Metropolitan Medical Center, Manila, Philippines; Centre for Preventive Neurology (S.D., M.T.P., A.J.N.), Wolfson Institute of Population Health, Queen Mary University of London, United Kingdom; Unidad de Trastornos del Movimiento (M.T.P.), Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Laboratory of Neurogenetics (M.B.M.), National Institute on Aging, National Institutes of Health, Bethesda, MD; Department of Clinical and Movement Neurosciences (M.B.M., H.R.M.), UCL Queen Square Institute of Neurology, University College London, United Kingdom; Department of Neurology (R.N.A.), Columbia University Irving Medical Center, New York; Movement Disorders Division (R.N.A.), Neurological Institute, Tel Aviv Sourasky Medical Center and Tel Aviv School of Medicine, Tel Aviv University, Israel; Molecular Medicine Laboratory and Neurology Department (K.R.K.), Concord Clinical School, Concord Repatriation General Hospital, The University of Sydney; Translational Neurogenomics Group (K.R.K.), Genomic and Inherited Disease Program, Garvan Institute of Medical Research; and St Vincent's Healthcare Campus (K.R.K.), Faculty of Medicine, UNSW Sydney, Darlinghurst, New South Wales, Australia.
Background And Objectives: In the era of precision medicine, genetic test results have become increasingly relevant in the care of patients with Parkinson disease (PD). While large research consortia are performing widespread research genetic testing to accelerate discoveries, debate continues about whether, and to what extent, the results should be returned to patients. Ethically, it is imperative to keep participants informed, especially when findings are potentially actionable.
View Article and Find Full Text PDFAutomated Incidental Findings Notification Through the Electronic Health Record Utilizing Dictation Macros.
J Imaging Inform Med
January 2025
University Hospitals Cleveland Medical Center, Case Western Reserve University, 11100 Euclid Avenue, BSH 5056, Cleveland, OH, 44106, USA.
The objective of this study is to implement an actionable incidental findings (AIFs) communication workflow integrated into the electronic health record (EHR) using dictation macros to improve the quality of radiology reports and facilitate delivery of findings to clinicians. The workflow was implemented across an academic multi-hospital health system and used by over 100 radiologists from 12 divisions. Standardized macros were created for different organ systems including the thyroid, lungs, liver, pancreas, spleen, kidney, female reproductive, and others, designed based on the ACR Novel Quality Measure Set.
View Article and Find Full Text PDFIncidental Finding of a Persistent Right Vitelline Artery in a 13-Year-Old Boy with Acute Appendicitis: A Case Report with Clinico-Pathological Correlation and a Comprehensive Literature Review.
Int J Surg Pathol
January 2025
Pathology Department, Complejo Asistencial Universitario de León, León, Spain.
The persistence of fetal vitelline structures may occur. The primary intestinal arterial supply development happens normally in this scenario, but a vitelline vascular remnant (VVR) persists. A 13-year-old boy with a history of severe and intermittent abdominal pain since early infancy presented to the Emergency Department with clinical, analytical, and ultrasonographic findings suggestive of acute appendicitis.
View Article and Find Full Text PDFSeminal vesicle schwannoma with chronic hemorrhage.
Neurosciences (Riyadh)
January 2025
From the Department of Radiology (Li, Zhang), Department of Pathology (Yang), First People's Hospital of Yongkang City, Yongkang City, and from Jinhua Central Hospital (Ying), Jinhua City, Zhejiang Province, China.
Schwannomas are benign tumors originating from Schwann cells, with seminal vesicle schwannomas being exceedingly rare. This report describes a 54-year-old man with an incidental discovery of a right-sided seminal vesicle mass during a routine ultrasound examination. Further imaging, including MRI and contrast-enhanced CT scans, revealed a well-defined, encapsulated mass with heterogeneous signal intensity suggestive of schwannoma.
View Article and Find Full Text PDFRole and applications of [F]FDG PET/CT in the assessment of osteoarticular infection and inflammation - Part II.
Rev Esp Med Nucl Imagen Mol (Engl Ed)
January 2025
Servicio de Medicina Nuclear, Hospital Universitario La Paz, Madrid, Spain; Grupo de Trabajo de Patología Musculoesquelética de la SEMNIM.
[F]FDG PET/TC is an emerging tool in the evaluation of inflammatory arthropathies, characterised by their insidious course and clinical overlap. It allows detection of subclinical inflammation, assessment of systemic involvement and quantification of metabolic parameters useful in early diagnosis and therapeutic monitoring. In rheumatoid arthritis, it correlates with clinical indices (Disease Activity Score), serological markers (CRP, anti-citrullinated protein antibodies) and ultrasound findings, and facilitates the identification of complications such as cardiovascular and pulmonary involvement.
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