When we recognize our common humanity, suspend judgment and embrace the intrinsic value and worth of every individual, we elevate those we serve, and we elevate ourselves. Whether or not we are able to offer cure, we are always capable of fulfilling our mission to heal.
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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 PDFKlinefelter Syndrome: A Review.
Clin Endocrinol (Oxf)
January 2025
Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Background: Klinefelter syndrome (KS) is an uncommonly recognised condition typified by gynaecomastia, small testes and aspermatogenesis. It is caused by a supernumerary X chromosome, resulting in a 47 XXY karyotype. Since its first description, the phenotype of KS has evolved and there is a much greater appreciation of the subtle features of the condition.
View Article and Find Full Text PDFFrequency, demographics, diagnoses and consultation patterns associated with low-acuity attendances in German emergency departments: a retrospective routine healthcare data analysis from the INDEED project.
BMJ Open
December 2024
Health Services Research in Emergency and Acute Medicine, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Objective: Evidence suggests interventions targeting low-acuity attendances have been hampered by insufficient characterisation of potential target groups. This study aimed to estimate the frequency of low-acuity emergency department (ED) attendances and to provide an overview of their demographic, diagnosis and consultation patterns.
Design: Observational analyses of routine healthcare data.
Understanding and addressing a 'difficult' family in ICU.
Crit Care
January 2025
Specialist Psychiatry Services Directorate, Cambridgeshire and Peterborough Foundation Trust, Cambridge, UK.
Conflicts between ICU staff and patient/relatives are common and are a source of additional stress in an already tense environment. These conflicts vary from disagreements to serious controversies, which may lead to legal process or even violence. Unsuccessful communication is recognised as a common denominator for such disagreements.
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