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438,604 results on '"Department of Neurology"'

1. Chinese guideline for the diagnosis and management of CADASIL (2022 edition): a protocol

Author

Department of Neurology, Peking Union Me Chinese Academy of Medical Sciences and Peking Union Medical College and Cerebrovascular Diseases Group, Neurolog Chinese Medical Association

Subjects
cadasil, diagnostic and treatment guideline, protocol (not in mesh), Neurology. Diseases of the nervous system, RC346-429
Abstract

In order to promote the clinical diagnosis, management and treatment of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in China, it is necessary to construct evidence ⁃ based guidelines. The "Chinese guideline for the diagnosis and management of CADASIL (2022 edition)" will be written by using the World Health Organization (WHO) Guidelines Development Manual" and "Principles for Developing/Revising Clinical Diagnosis and Treatment Guidelines in China (2022 Edition)", and follow the evidence ⁃ based guidance development process to develop and publish formal guidance. This guide plan mainly describes the background, initiation and planning of the guide, as well as a concise development method to lay the foundation for the successful release of the subsequent guide.

Published
2023
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3. Robotic Rehabilitation for Stroke Survivors

Author

Department of Neurology Jacobs School of Medicine and Biomedical Sciences University at Buffalo. and Amit Kandel, MD, MBA, Principal Investigator

Published
2024

4. Early Treatment of Atrial Fibrillation for Stroke Prevention Trial in Acute STROKE (EAST-STROKE)

Author

University Heart & Vascular Center Hamburg, Department of Cardiology, Department of Neurology, Royal Melbourne Hospital, Melbourne Heart Centre, Royal Melbourne Hospital, Hotchkiss Brain Institute, University of Calgary, Department of Neurology and Neurosurgery, Brain Center, University Medical Center Utrecht, UMC Utrecht, Edinburgh Clinical Trials Unit, Cerebrovascular Research Group, Centre for Clinical Brain Sciences, University of Edinburgh, Department of Cardiovascular Sciences, University of Leicester British Heart Foundation Cardiovascular Research Centre, Institute of Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, CTC-NORTH, Stroke Alliance for Europe (SAFE), and Kompetenznetz Vorhofflimmern e.V. (AFNET)

Published
2023

5. Intravenous Thrombolysis after Reversal of Dabigatran by Idarucizumab: A Case Report

Author

Waldemar Kafke, Peter Kraft, and Department of Neurology

Subjects
Atrial fibrillation, Embolic stroke, Non-vitamin K oral anticoagulants, Dabigatran, Idarucizumab, Intravenous thrombolysis, Neurology. Diseases of the nervous system, RC346-429
Abstract

We describe a 75-year-old female patient with nonvalvular atrial fibrillation who presented with acute ischemic stroke during treatment with dabigatran 2 × 110 mg per day. After informed consent, we reversed the anticoagulant effects of dabigatran using idarucizumab and applied an intravenous thrombolysis (IVT) with recombinant tissue plasminogen activator (off-label use). An intracerebral hemorrhage was excluded after systemic thrombolysis. Despite the IVT, the patient’s clinical condition deteriorated and she developed an ischemic lesion in the right pons, the right thalamus and right cerebellum. To date, the literature lacks data concerning the thrombolytic treatment of acute ischemic stroke in patients after specific reversal of the non-vitamin K oral anticoagulant dabigatran using idarucizumab. Given the rapid and sustainable efficacy of idarucizumab, the reversal of dabigatran followed by thrombolysis seems to be safe, but further studies and register data are still needed to confirm our preliminary observation, especially to provide additional data concerning the risk-benefit evaluation.

Published
2016
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7. Echocardiographic Predictors of Atrial Fibrillation (EPAF-7)

Author

NÖ Landesgesundheitsagentur, legal entity of University Hospitals in Lower Austria, Department of Internal Medicine, University Hospital Tulln, Alter Ziegelweg 10, 3430, Tulln, Austria, Department of Neurology, University Hospital Tulln, Alter Ziegelweg 10, 3430, Tulln, Austria, and Erol Erdik, Principle Investigator, MD

Published
2023

8. Shotgun Mass Spectrometry-based Lipid Profiling in Chronic Inflammatory Diseases

Author

Hospital Santa Cruz, Centro Hospitalar de Lisboa Ocidental, Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Hospital Dr. Fernando da Fonseca, Lipotype GmbH, Tatzberg 47, 01307, Dresden, Germany., iNOVA4Health, CEDOC, NOVA Medical Schoo, and Fundação para a Ciência e a Tecnologia (FCT)

Published
2021

12. MIR137 polygenic risk for schizophrenia and ephrin-regulated pathway: Role in lateral ventricles and corpus callosum volume

Author

Onderzoeksgroep 11, Brain, Unit Opleiding Aios, Onderzoeksgroep 1, Onderzoek Beeld, Onderzoek, Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Onderzoeksgroep 11, Brain, Unit Opleiding Aios, Onderzoeksgroep 1, Onderzoek Beeld, Onderzoek, and Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER)

Published
2024

13. Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder

Author

Onderzoeksgroep 2, Brain, MGGZ, Hersenen-Medisch 1, Diagnostiek & Vroege Psychose Medisch, Cardiologie, Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Onderzoeksgroep 2, Brain, MGGZ, Hersenen-Medisch 1, Diagnostiek & Vroege Psychose Medisch, Cardiologie, and Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER)

Published
2024

14. Structural brain abnormalities and aggressive behaviour in schizophrenia: Mega-analysis of data from 2095 patients and 2861 healthy controls via the ENIGMA consortium

Author

Affectieve & Psychotische Med., Onderzoeksgroep 1, Onderzoek, Brain, Hersenen-Medisch 1, Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Affectieve & Psychotische Med., Onderzoeksgroep 1, Onderzoek, Brain, Hersenen-Medisch 1, and Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER)

Published
2024

16. SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism (SQUED™)

Author

Clinic of Synergetics, Department of Neurology/Neuropsychology WOMS, Institute of Medical Synergetics, Department of Cognitive Neurology WOMS, Laboratory of Neurocomputational Active Media WOMS, SQUED, Inc., USA, Center of Synergetics, Universität Stuttgart, Germany, Ivan Franko National University of Lviv, Ukraine, Danylo Halytsky Lviv National Medical University, World Organization of Medical Synergetics, and World Autism Center, American Federation of Medical Synergetics

Published
2017

17. Genomic loci influence patterns of structural covariance in the human brain

Author

Onderzoeksgroep 11, Brain, Highfield Research Group, Cancer, Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Onderzoeksgroep 11, Brain, Highfield Research Group, Cancer, and Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER)

Published
2023

19. Large-scale analysis of structural brain asymmetries in schizophrenia via the ENIGMA consortium

Author

Neurogenetica, Onderzoeksgroep 1, Brain, Onderzoek, Onderzoeksgroep 11, Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Neurogenetica, Onderzoeksgroep 1, Brain, Onderzoek, Onderzoeksgroep 11, and Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER)

Published
2023

21. European Study on Prediction of Outcome in Patients With Idiopathic Normal Pressure Hydrocephalus

Author

Sahlgrenska University Hospital, Sweden, Department of Neurology and Neurosurgery,Westeinde Hospital, Den Haag, Uppsala University Hospital, University of Copenhagen, Unfallkrankenhaus Berlin, Universität des Saarlandes, University of Padova, Masaryk University, University of Budapest, Hospital Universitari de Bellvitge, Hospital General Universitario Gregorio Marañon, Neurosurgical Department, Clinique St. Jaen, Brussels, Belgium, and Prof. Dr. med. Petra M. Klinge

Published
2009

22. The Influence of Stress on the Quality of Life Among Students from the Medical Field

Author

Miteva, Dimitrinka, TS Nursing Care, Department of Neurology, Psychiatry, Physiotherapy and Rehabilitation, Preventive Medicine, and Public Health, Faculty of Medicine, Sofia University \\'St. Kliment Ohridski\\', Lefterova, Kalina, and Vasileva, Veselina

Subjects
stress, quality of life, students from medical specialties
Abstract

Annual data provided by worldwide organizations such as the American Psychological Association (APA), the American Institute of Stress (AIS), and the Mental Health Foundation show that education and health professions are under the most stress. Although burnout and stress are usually associated with a more mature age, results from modern studies show that younger generations (18–24) experience a higher level of stress and anxiety than older ones, with the leading cause of this phenomenon being associated with increased expectations and the pressure to exceed them. According to WHO data, suicide is the fourth leading cause of death among 15- to 29-year-olds, with depression being one of the leading diseases in this age group.These alarming statistics draw particular attention to the mental health of medical students, who, in addition to falling into the risky age group, are exposed to a high amount of stress from their chosen professional environment. Given the global shortage of health care workers and high dropout rates among trainees, implementing stress management programs for medical students is becoming an increasingly topical issue.The aim of this study is to investigate the impact of stress on students studying medical specialties and on their quality of life throughout their study period.The results obtained revealed increased stress levels among the respondents. This data proves the negative impact of stress on students' mental and physical health and decreases their quality of life. Such concerning findings undoubtedly highlight the need for increased attention to the problem and the search for alternatives to minimize stress levels among medical students.

Published
2022

23. Nursing Care for an AMI (Acute Myocardial Infarction) Patient: A Case Study

Author

Kirilova, Stefani, Student, Bachelor’s Program Nurse, Faculty of Medicine, Sofia University St. Kliment Ohridski, Rasheva, Aneta, and Department of Neurology, Psychiatry, Physiotherapy and Rehabilitation, Preventive Medicine, and Public Health, Faculty of Medicine, Sofia University St. Kliment Ohridski

Subjects
nursing care, acute myocardial infarction, plan
Abstract

In the present study, we have presented a case study of a patient with AMI (acute myocardial infarction) undergoing coronary angiography. The diagnosis was made on the basis of clinical, instrumental, and laboratory data. Nursing care is of great importance in the complex treatment of this disease, both preoperatively and postoperatively. To this end, the nurse prepares a plan for nursing care, including the nursing interventions that will help achieve the goal. That plan is a thought construct that involves developing clinical thinking skills, assessing risk situations, and making adequate decisions.

Published
2022

24. Influence of Nursing Models on the Preparation of Healthcare Professionals

Author

Vasileva, Veselina, TS Nursing Care, Department of Neurology, Psychiatry, Physiotherapy and Rehabilitation, Preventive Medicine, and Public Health, Faculty of Medicine, Sofia University \\'St. Kliment Ohridski\\', and Ivanova, Diana

Subjects
nursing models, vocational training, healthcare professionals
Abstract

In the past, the nursing profession has relied on theories from other disciplines such as medicine, philosophy, and sociology. With the dynamic development of nursing from a practical and research perspective, the inevitability of developing specific conceptual models of care and theories to outline a philosophical framework for the profession arises. Models of nursing care should be studied as part of the theoretical training of future health workers, as they instill basic professional principles, skills, and responsibilities in medical nursing students.All this is then fundamental to the continuing development of nursing and supports the expansion of its autonomous functions. Students of the Medical Nurse specialty play a key role in the continuity and development of nursing, which in turn prompts the study of their opinions on the importance of conceptual models of care in their professional training.The purpose of this study is to collect the opinions of students from the specialty Medical Nurse, trained at the Medical Faculty of Sofia University St. Kliment Ohridski, about the importance of conceptual models of care in their academic and practical education. Future health professionals' interest in and attention to conceptual models in their professional training has decreased. The majority of participants believe that conceptual models are sufficiently studied, yet they do not regard them as the foundations of medical nursing. These alarming results point to weaknesses in the overall structure, assessment, and control of nursing training activities and, accordingly, a decrease in the level of services provided.

Published
2022

25. Solving unsolved rare neurological diseases-a Solve-RD viewpoint

Author

Schüle, Rebecca, Timmann, Dagmar, Erasmus, Corrie E., Reichbauer, Jennifer, Wayand, Melanie, Solve-RD-DITF-RND Baets Jonathan Balicza Peter Chinnery Patrick Dürr Alexandra Haack Tobias Hengel Holger Horvath Rita Houlden Henry Kamsteeg Erik-Jan Kamsteeg Christoph Lohmann Katja Macaya Alfons Marcé-Grau Anna Maver Ales Molnar Judit Münchau Alexander Peterlin Borut Riess Olaf Schöls Ludger European Reference Network for Rare Neurological Diseases, Tübingen, Germany Schüle Rebecca European Reference Network for Rare Neurological Diseases, Tübingen, Germany Stevanin Giovanni Synofzik Matthis European Reference Network for Rare Neurological Diseases, Tübingen, Germany Timmerman Vincent van de Warrenburg Bart Department of Neurology, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands van Os Nienke Vandrovcova Jana Wayand Melanie German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany Wilke Carlo German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany, Baets, Jonathan, Balicza, Peter, Chinnery, Patrick, Dürr, Alexandra, Haack, Tobias, Hengel, Holger, Horvath, Rita, Houlden, Henry, Kamsteeg, Erik-Jan, Kamsteeg, Christoph, Lohmann, Katja, Macaya, Alfons, Marcé-Grau, Anna, Maver, Ales, Molnar, Judit, Münchau, Alexander, Peterlin, Borut, Riess, Olaf, Schöls, Ludger, Stevanin, Giovanni, Synofzik, Matthis, Timmerman, Vincent, van de Warrenburg, Bart, van Os, Nienke, Vandrovcova, Jana, Wilke, Carlo, Bevot, Andrea, Zuchner, Stephan, Beltran, Sergi, Laurie, Steven, Matalonga, Leslie, Graessner, Holm, The Solve-RD Consortium Graessner Holm Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany Zurek Birte Ellwanger Kornelia Ossowski Stephan Demidov German Sturm Marc Schulze-Hentrich Julia M. Heutink Peter Brunner Han Scheffer Hans Hoogerbrugge Nicoline Hoischen Alexander ’t Hoen Peter A. C. Vissers Lisenka E. L. M. Gilissen Christian Steyaert Wouter Sablauskas Karolis de Voer Richarda M. Janssen Erik de Boer Elke Steehouwer Marloes Yaldiz Burcu Kleefstra Tjitske Brookes Anthony J. Veal Colin Gibson Spencer Wadsley Marc Mehtarizadeh Mehdi Riaz Umar Warren Greg Dizjikan Farid Yavari Shorter Thomas Töpf Ana Straub Volker Bettolo Chiara Marini Specht Sabine Clayton-Smith Jill Banka Siddharth Alexander Elizabeth Jackson Adam Faivre Laurence Thauvin Christel Vitobello Antonio Denommé-Pichon Anne-Sophie Duffourd Yannis Tisserant Emilie Bruel Ange-Line Peyron Christine Pélissier Aurore Beltran Sergi Facultat de Biologia, Departament de Genètica, Microbiologia i Estadística, Universitat de Barcelona (UB), Barcelona, Spain Gut Ivo Glynne Laurie Steven CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain Piscia Davide Matalonga Leslie CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain Papakonstantinou Anastasios Bullich Gemma Corvo Alberto Garcia Carles Fernandez-Callejo Marcos Hernández Carles Picó Daniel Paramonov Ida Lochmüller Hanns Gumus Gulcin Bros-Facer Virginie Rath Ana Hanauer Marc Olry Annie Lagorce David Havrylenko Svitlana Izem Katia Rigour Fanny Durr Alexandra Davoine Claire-Sophie Guillot-Noel Léna Heinzmann Anna Coarelli Giulia Bonne Gisèle Evangelista Teresinha Allamand Valérie Nelson Isabelle Yaou Rabah Ben Metay Corinne Eymard Bruno Cohen Enzo Atalaia Antonio Stojkovic Tanya Macek Milan Jr. Turnovec Marek Thomasová Dana Kremliková Radka Pourová Franková Vera Havlovicová Markéta Kremlik Vlastimil Parkinson Helen Keane Thomas Spalding Dylan Senf Alexander Robinson Peter Danis Daniel Robert Glenn Costa Alessia Patch Christine Hanna Mike Houlden Henry Reilly Mary Vandrovcova Jana Muntoni Francesco Zaharieva Irina Sarkozy Anna de Jonghe Peter Nigro Vincenzo Banfi Sandro Torella Annalaura Musacchia Francesco Piluso Giulio Ferlini Alessandra Selvatici Rita Rossi Rachele Neri Marcella Aretz Stefan Spier Isabel Sommer Anna Katharina Peters Sophia Oliveira Carla Pelaez Jose Garcia Matos Ana Rita José Celina São Ferreira Marta Gullo Irene Fernandes Susana Garrido Luzia Ferreira Pedro Carneiro Fátima Swertz Morris A. Johansson Lennart van der Velde Joeri K. van der Vries Gerben Neerincx Pieter B. Roelofs-Prins Dieuwke Köhler Sebastian Metcalfe Alison Verloes Alain Drunat Séverine Rooryck Caroline Trimouille Aurelien Castello Raffaele Morleo Manuela Pinelli Michele Varavallo Alessandra De la Paz Manuel Posada Sánchez Eva Bermejo Martín Estrella López Delgado Beatriz Martínez de la Rosa F. Javier Alonso García Ciolfi Andrea Dallapiccola Bruno Pizzi Simone Radio Francesca Clementina Tartaglia Marco Renieri Alessandra Benetti Elisa Balicza Peter Molnar Maria Judit Maver Ales Peterlin Borut Münchau Alexander Lohmann Katja Herzog Rebecca Pauly Martje Macaya Alfons Marcé-Grau Anna Osorio Andres Nascimiento de Benito Daniel Natera Lochmüller Hanns Thompson Rachel Polavarapu Kiran Beeson David Cossins Judith Cruz Pedro M. Rodriguez Hackman Peter Johari Mridul Savarese Marco Udd Bjarne Horvath Rita Capella Gabriel Valle Laura Holinski-Feder Elke Laner Andreas Steinke-Lange Verena Schröck Evelin Rump Andreas, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoischen, Alexander, ’t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Gut, Ivo Glynne, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Garcia, Carles, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Olry, Annie, Lagorce, David, Havrylenko, Svitlana, Izem, Katia, Rigour, Fanny, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Yaou, Rabah Ben, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Kremlik, Vlastimil, Parkinson, Helen, Keane, Thomas, Spalding, Dylan, Senf, Alexander, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Reilly, Mary, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, de Jonghe, Peter, Nigro, Vincenzo, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Rooryck, Caroline, Trimouille, Aurelien, Castello, Raffaele, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, de la Rosa, F. Javier Alonso García, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Benetti, Elisa, Molnar, Maria Judit, Herzog, Rebecca, Pauly, Martje, Osorio, Andres Nascimiento, de Benito, Daniel Natera, Thompson, Rachel, Polavarapu, Kiran, Beeson, David, Cossins, Judith, Cruz, Pedro M. Rodriguez, Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas, Solve-RD-DITF-RND, Solve-RD Consortium, Schule, R., Timmann, D., Erasmus, C. E., Reichbauer, J., Wayand, M., van de Warrenburg, B., Schols, L., Wilke, C., Bevot, A., Zuchner, S., Beltran, S., Laurie, S., Matalonga, L., Graessner, H., Synofzik, M., Nigro, V., Banfi, S., Torella, A., Piluso, G., Medicum, University of Helsinki, Department of Medical and Clinical Genetics, Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA Klinische Genetica (5), Wilke, Carlo [0000-0002-7250-8597], Beltran, Sergi [0000-0002-2810-3445], Laurie, Steven [0000-0003-3913-5829], Graessner, Holm [0000-0001-9803-7183], Synofzik, Matthis [0000-0002-2280-7273], and Apollo - University of Cambridge Repository

Subjects
genetics [Rare Diseases], lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Medizin, Datasets as Topic, 0302 clinical medicine, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Medicine, Genetics (clinical), 0303 health sciences, methods [Genomics], Management science, Neurodevelopmental disorders, Neurodegenerative diseases, 030305 genetics & heredity, 1184 Genetics, developmental biology, physiology, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genomics, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], genetics [Nervous System Diseases], 3. Good health, Chemistry, Practice Guidelines as Topic, Malalties rares, pathology [Rare Diseases], methods [Genetic Testing], Movement disorders, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Socio-culturale, standards [Exome Sequencing], standards [Genetic Testing], pathology [Nervous System Diseases], 03 medical and health sciences, Rare Diseases, Viewpoint, Exome Sequencing, Genetics, Humans, Genetic Testing, ddc:610, Biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Sistema nerviós -- Malalties, methods [Exome Sequencing], standards [Genomics], 3111 Biomedicine, Human medicine, Nervous System Diseases, business, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], 030217 neurology & neurosurgery
Abstract

Rare genetic neurological disorders (RND; ORPHA:71859) are a heterogeneous group of disorders comprising >1700 distinct genetic disease entities. However, genetic discoveries have not yet translated into dramatic increases of diagnostic yield and indeed rates of molecular genetic diagnoses have been stuck at about 30–50% across NGS modalities and RND phenotypes [1, 2]. Existence of yet unknown disease genes as well as shortcomings of commonly employed NGS technologies and analysis pipelines in detecting certain variant types are typically cited to explain the low diagnosis rates. To increase the diagnostic yield in RNDs - one of the four focus disease groups in Solve-RD - we follow two major approaches, that we will here present and exemplify: (i) systematic state-of the art re-analysis of large cohorts of unsolved whole-exome/genome sequencing (WES/WGS) RND datasets; and (ii) novel-omics approaches. Based on the way Solve-RD systematically organizes researchers’ expertise to channel this approach [3], the European Reference Network for Rare Neurological Diseases (ERN-RND) has established its own Data Interpretation Task Force (DITF) within SOLVE-RD, which is currently composed of clinical and genetic experts from 29 sites in 15 European countries. The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation programme under Grant Agreement No. 779257. Data were analysed using the RD‐Connect Genome‐Phenome Analysis Platform, which received funding from EU projects RD‐Connect, Solve-RD and EJP-RD (Grant Numbers FP7 305444, H2020 779257, H2020 825575), Instituto de Salud Carlos III (Grant Numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática, INB) and ELIXIR Implementation Studies. The study was further funded by the Federal Ministry of Education and Research, Germany, through the TreatHSP network (01GM1905 to RS and LS), the National Institute of Neurological Diseases and Stroke (R01NS072248 to SZ and RS), the European Joint Program on Rare Diseases-EJP-RD COFUND-EJP N° 825575 through funding for the PROSPAX consortium (441409627 to MS, RS and BvW). CW was supported by the PATE program of the Medical Faculty, University of Tübingen. CEE received support from the Dutch Princess Beatrix Muscle Fund and the Dutch Spieren voor Spieren Muscle fund. Authors on this paper are members of the European Reference Network for Rare Neurological Diseases (ERN-RND, Project ID 739510)

Published
2021

26. The Relationship Between Grey Matter Volume and Clinical and Functional Outcomes in People at Clinical High Risk for Psychosis

Author

Onderzoeksgroep 9, Brain, Hersenen-Medisch 1, Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Onderzoeksgroep 9, Brain, Hersenen-Medisch 1, and Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER)

Published
2022

27. Rare coding variants in ten genes confer substantial risk for schizophrenia

Author

CMM Groep Kaaij, Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), CMM Groep Kaaij, and Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER)

Published
2022

29. Subtly altered topological asymmetry of brain structural covariance networks in autism spectrum disorder across 43 datasets from the ENIGMA consortium

Author

Brain, Ontwikkelingsstoornissen Ond., Onderzoek Bob Oranje, Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Brain, Ontwikkelingsstoornissen Ond., Onderzoek Bob Oranje, and Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER)

Published
2022

30. The collaborative outcomes study on health and functioning during infection times in adults (COH-FIT-Adults): Design and methods of an international online survey targeting physical and mental health effects of the COVID-19 pandemic

Author

Brain, Psychiatrie_Medisch, Hersenen-Medisch 1, Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Brain, Psychiatrie_Medisch, Hersenen-Medisch 1, and Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER)

Published
2022

31. Enhancing Discovery of Genetic Variants for Posttraumatic Stress Disorder Through Integration of Quantitative Phenotypes and Trauma Exposure Information

Author

Research UMC Utrecht, Onderzoeksgroep 2, Brain, MGGZ, Onderzoek, Neurogenetica, Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Research UMC Utrecht, Onderzoeksgroep 2, Brain, MGGZ, Onderzoek, Neurogenetica, and Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER)

Published
2022

32. Intelligence, educational attainment, and brain structure in those at familial high-risk for schizophrenia or bipolar disorder

Author

Onderzoeksgroep 1, Brain, Onderzoek, Diagnostiek & Vroege Psychose Medisch, Hersenen-Medisch 1, Onderzoeksgroep 11, Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Onderzoeksgroep 1, Brain, Onderzoek, Diagnostiek & Vroege Psychose Medisch, Hersenen-Medisch 1, Onderzoeksgroep 11, and Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER)

Published
2022

33. Consortium neuroscience of attention deficit/hyperactivity disorder and autism spectrum disorder: The ENIGMA adventure

Author

Onderzoeksgroep 1, Ontwikkelingsstoornissen Ond., Brain, Onderzoek Bob Oranje, Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Onderzoeksgroep 1, Ontwikkelingsstoornissen Ond., Brain, Onderzoek Bob Oranje, and Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER)

Published
2022

34. Isometric was better than Isotonic Neck Stretching to Reduce Pain and Creatinine Kinease in Non-specific Neck Pain in Caring Students of Swadhyaseni Middle High School, Badung, Bali

Author

Purwata, Thomas Eko; Faculty of Medicine, Department of Neurology, Udayana University/Sanglah Hospital, Bali, Putra, I. Komang Sri Mahendra; Faculty of Medicine, Department of Neurology, Udayana University/Sanglah Hospital, Bali, Putra, I. G. N. Purna; Faculty of Medicine, Department of Neurology, Udayana University/Sanglah Hospital, Bali, Widyadharma, I. Putu Eka; Faculty of Medicine, Department of Neurology, Udayana University/Sanglah Hospital, Bali, Purwata, Thomas Eko; Faculty of Medicine, Department of Neurology, Udayana University/Sanglah Hospital, Bali, Putra, I. Komang Sri Mahendra; Faculty of Medicine, Department of Neurology, Udayana University/Sanglah Hospital, Bali, Putra, I. G. N. Purna; Faculty of Medicine, Department of Neurology, Udayana University/Sanglah Hospital, Bali, and Widyadharma, I. Putu Eka; Faculty of Medicine, Department of Neurology, Udayana University/Sanglah Hospital, Bali

Abstract

Neck pain is frequently complained by workers with static neck position. Complaints accompanied by discomfort around the neck muscles without any sensory disturbances or radiating pain, without specific causes such as history of neck trauma, neck malignancy or anatomical structural abnormalities. The samples were taken from carving students of Swadhyaya Middle School Badung. We evaluated 18 students divided into 2 groups: one with isometric neck stretches and another with isotonic neck stretches, 9 subjects each. The paired t-test found the number of decrease in NPRS in the isometric group was greater than isotonic group and the difference was statistically significant. The results of the unpaired student t-test obtained a mean decrease in NPRS in the isometric group greater than isotonic with a value of P = 0.00 (p <0.01). Creatine kinase levels in the isometric group showed no significant difference, whereas creatine kinase levels in the isotonic group showed that the increase was not significantly different, the results of the independent student t test showed values not significantly different from the isometric and isotonic groups with the intention of p = 0.284 (p> 0.01). These results indicate isometric stretching is more effective in reducing the scale of NPRS pain in non-specific neck pain compared to isotonic stretches, isometric and isotonic stretching techniques are equally less effective in reducing creatine kinase levels.

Published
2019

35. A Growing Journey From Neurotrophins To Metabotrophins In Cardiometabolic Diseases

Author

Aloe, Luigi, Fondazione Iret Tecnopolo R. Levi-Montalcini Rome, Italy, Vinciguerra, Manlio, Department of Translational Stem Cell Biology, Research Institute, Medical University, Varna, Bulgaria, Tonchev, Anton B., Departments of Anatomy and Cell Biology and Translational Stem Cell Biology, Research Institute, Medical University, Varna, Bulgaria, Fiore, Marco, Institute of Biochemistry and Cell Biology, Section of Neurobiology, National Research Council (CNR), Rome, Italy, Deleva, Nadezhda, Department of Neurology, Medical University, Varna, Bulgaria, Frohlich, Jan, International Clinical Research Center, St. Anne’s University Hospital, Brno, Czech Republic, and Chaldakov, George N.

Subjects
metabolism, metabotrophic factors, cardiometabolic diseases, NGF, BDNF, Alzheimer`s disease
Abstract

Currently, obesity has been recognized as a prime risk in the development of car-diometabolic diseases (CMD) and neurodegenerative diseases (NDD). The patho-genesis and therapy of CMD are immensely complex at the cellular and molecular levels. This scenario raises the question of how such a complexity may be grappled in a more tangible manner. Since 2003, we have been thinking “what nobody has yet thought about that everybody sees”, namely, matabotrophic factors (MTF, metabotrophins). The latter include mainly (i) the neurotrophins nerve growth factor (NGF) and brain-derived neurotrophic factor (BDNF), and (ii) the adipomyo-kines adiponectin, irisin, BDNF, fibroblast growth factor-21 alike as adipose- and skeletal muscle-derived signaling proteins (these latter discussed in another review in the present volume of Adipobiology). Herein, we argue that obesity and related CMD and NDD, particularly Alzheimer’s disease, may be viewed as MTF-deficient diseases. Further studies on MTF signatures and ramifications in these diseases are required. These would provide greater insights on how we can make MTF work for the improvement of physiological and psychological quality of human life.

Published
2021

36. Session 3 “Analyzer Workshop” Evolution of therapeutic strategies in Parkinson’s disease

Author

Moderators: Dr.Nobuo Yanagisawa (Director General), Kanto Rosai Hospital, Dr. Mitsutoshi Yamamoto (Chief), Department of Neurology, Kagawa Prefectural Central Hospital, Panelists: Dr. Seiji Kikuchi (Assistant Professor), Department of Neurology, Hokkaido University Graduate School of Medicine, Dr.Miho Murata, Department of Neurology, Graduate School of Medicine and Factory of Medicine the University of Tokyo, and Dr.Yasuyuki Ohkuma (Assistant Professor), Department of Neurology, Juntendo University School of Medicine, Izunagaoka Hospital

Published
2004
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37. Author Correction: Altered structural brain asymmetry in autism spectrum disorder in a study of 54 datasets

Author

Brain, Ontwikkelingsstoornissen Ond., Onderzoek, Onderzoek Bob Oranje, Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Brain, Ontwikkelingsstoornissen Ond., Onderzoek, Onderzoek Bob Oranje, and Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER)

Published
2021

38. Correction: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder (Jan, 10.1038/s41380-020-01006-9, 2021): Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder (Molecular Psychiatry, (2021), 26, 9, (5239-5250), 10.1038/s41380-020-01006-9)

Author

Hersenen-Bedrijfsvoering, Onderzoeksgroep 2, Brain, Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Hersenen-Bedrijfsvoering, Onderzoeksgroep 2, Brain, and Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER)

Published
2021

39. Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

Author

Hersenen-Bedrijfsvoering, Onderzoeksgroep 2, Brain, Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Hersenen-Bedrijfsvoering, Onderzoeksgroep 2, Brain, and Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER)

Published
2021

40. Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study

Author

Onderzoek, Brain, Onderzoeksgroep 8, Onderzoeksgroep 11, Neurogenetica, Onderzoeksgroep 1, Hersenen-Medisch 1, Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Onderzoek, Brain, Onderzoeksgroep 8, Onderzoeksgroep 11, Neurogenetica, Onderzoeksgroep 1, Hersenen-Medisch 1, and Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER)

Published
2021

41. Fourth European stroke science workshop

Author

Paris 5, INSERM U894, Paris, France (JCB), Department of Neurology, Cantonal Hospital Aarau, Aarau, Switzerland (KN), Stroke Trials Unit, University of Nottingham, Nottingham NG5 1PB UK (PMB), Institute of Cardiovascular and Medical Sciences, University of Glasgow, United Kingdom (TJQ), Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands (ER), Department of Neurology and Stroke, and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany (UZ), Institute for Stroke and Dementia Research, Klinikum der Universität München, Munich, Germany (AL, MDü), Munich Cluster for Systems Neurology (SyNergy), Munich, Germany (AL, MDü), Department of Medicine, University of Thessaly, Larissa, Greece (GN), Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY, USA (CI), Institute of Cardiovascular & Medical Sciences, University of Glasgow, Glasgow, United Kingdom (KRL), University of Copenhagen, Bispebjerg Hospital, Department of Neurology, Copenhagen, Denmark (HC), Department of Neurology, Massachusetts General Hospital/Harvard Medical School, Boston, MA, USA (SJvW), Sydney Medical School, University of Sydney, Sydney, Australia (CSA), Pharmaceutics Research Laboratory, School of Life Sciences, University of Sussex, Brighton, UK (CAM), Inserm, Bordeaux Population Health Research Center, UMR 1219, Univ. Bordeaux, ISPED, Bordeaux School of Public. Health, Bordeaux, France (CD), CHU de Bordeaux, Pôle de santé, publique, Bordeaux, France (CD), Center of Functionally Integrative Neuroscience, 53154 Aarhus University, Aarhus, Denmark (LO), Department of Cardiovascular Sciences, University of Leicester, Leicester, United Kingdom (NJS), Department of Neurology, Inselspital, University Hospital Bern, University of Bern, Switzerland (UF, HM), Radboud University Nijmegen Medical Center, Donders Institute Brain Cognition & Behaviour, Center for Neuroscience Department of Neurology, Nijmegen, The Netherlands (FEdL), Department of Neurology, Lund University, Lund, Sweden (BN), Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Univ. Lille, Inserm, CHU Lille, Degenerative and Vascular Cognitive Disorders, Lille, France (CC), Department of Neurology, Sainte-Anne Hospital, INSERM 894, DHU NeuroVasc Sorbonne Paris-Cité, Paris Descartes University, Paris, France (JLM), Stroke Unit and Division of Cardiovascular Medicine, University of Perugia, Italy (VC), Department of Neurology, Charité, Universitätsmedizin Berlin, Berlin, Germany (EM), on behalf of the European Stroke Science Workshop Presenters and Co-convenors, INSERM U1161, UFR de médecine Paris Diderot, France (ETL), Department of Neurology, Cologne University Hospital, Köln, Germany (CG), HRB Stroke Clinical Trials Network Ireland, University College Dublin Ireland (PJK), University of Glasgow, Queen Elizabeth University Hospital, Glasgow, United Kingdom (KM), Dept of Internal Medicine, Oslo University Hospital, Oslo, and Institute of Clinical Medicine, University of Tromsø, Tromsø, Norway (EB), Sorbonne Universités, UPMC Université, Paris 06, INSERM UMR-S 1166, F-75013, Paris, France (DAT), ICAN Institute for Cardiometabolism and Nutrition, Paris, France (DAT), University Hospital of North Midlands NHS Trust, Stoke-on-Trent, United Kingdom (CR), Department Neurosciences and Preventive Medicine, Danube University Krems, Austria (MB), Department of Neurosurgery, Bern University Hospital, Inselspital, Bern, Switzerland (JB), Department of Neurology, University of Heidelberg, Heidelberg, Germany (TS), Department of Neurology, Slotervaart Medical Center, Amsterdam, The Netherlands (LMdL), University Paris Diderot, Paris, France (EJ), Department of Neurology, University of Heidelberg, Heidelberg, Germany (RV), Department of Neurology, Hopital Sainte-Anne, Université, Paris 5, INSERM U894, Paris, France (JCB), Department of Neurology, Cantonal Hospital Aarau, Aarau, Switzerland (KN), Stroke Trials Unit, University of Nottingham, Nottingham NG5 1PB UK (PMB), Institute of Cardiovascular and Medical Sciences, University of Glasgow, United Kingdom (TJQ), Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands (ER), Department of Neurology and Stroke, and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany (UZ), Institute for Stroke and Dementia Research, Klinikum der Universität München, Munich, Germany (AL, MDü), Munich Cluster for Systems Neurology (SyNergy), Munich, Germany (AL, MDü), Department of Medicine, University of Thessaly, Larissa, Greece (GN), Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY, USA (CI), Institute of Cardiovascular & Medical Sciences, University of Glasgow, Glasgow, United Kingdom (KRL), University of Copenhagen, Bispebjerg Hospital, Department of Neurology, Copenhagen, Denmark (HC), Department of Neurology, Massachusetts General Hospital/Harvard Medical School, Boston, MA, USA (SJvW), Sydney Medical School, University of Sydney, Sydney, Australia (CSA), Pharmaceutics Research Laboratory, School of Life Sciences, University of Sussex, Brighton, UK (CAM), Inserm, Bordeaux Population Health Research Center, UMR 1219, Univ. Bordeaux, ISPED, Bordeaux School of Public. Health, Bordeaux, France (CD), CHU de Bordeaux, Pôle de santé, publique, Bordeaux, France (CD), Center of Functionally Integrative Neuroscience, 53154 Aarhus University, Aarhus, Denmark (LO), Department of Cardiovascular Sciences, University of Leicester, Leicester, United Kingdom (NJS), Department of Neurology, Inselspital, University Hospital Bern, University of Bern, Switzerland (UF, HM), Radboud University Nijmegen Medical Center, Donders Institute Brain Cognition & Behaviour, Center for Neuroscience Department of Neurology, Nijmegen, The Netherlands (FEdL), Department of Neurology, Lund University, Lund, Sweden (BN), Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Univ. Lille, Inserm, CHU Lille, Degenerative and Vascular Cognitive Disorders, Lille, France (CC), Department of Neurology, Sainte-Anne Hospital, INSERM 894, DHU NeuroVasc Sorbonne Paris-Cité, Paris Descartes University, Paris, France (JLM), Stroke Unit and Division of Cardiovascular Medicine, University of Perugia, Italy (VC), Department of Neurology, Charité, Universitätsmedizin Berlin, Berlin, Germany (EM), on behalf of the European Stroke Science Workshop Presenters and Co-convenors, INSERM U1161, UFR de médecine Paris Diderot, France (ETL), Department of Neurology, Cologne University Hospital, Köln, Germany (CG), HRB Stroke Clinical Trials Network Ireland, University College Dublin Ireland (PJK), University of Glasgow, Queen Elizabeth University Hospital, Glasgow, United Kingdom (KM), Dept of Internal Medicine, Oslo University Hospital, Oslo, and Institute of Clinical Medicine, University of Tromsø, Tromsø, Norway (EB), Sorbonne Universités, UPMC Université, Paris 06, INSERM UMR-S 1166, F-75013, Paris, France (DAT), ICAN Institute for Cardiometabolism and Nutrition, Paris, France (DAT), University Hospital of North Midlands NHS Trust, Stoke-on-Trent, United Kingdom (CR), Department Neurosciences and Preventive Medicine, Danube University Krems, Austria (MB), Department of Neurosurgery, Bern University Hospital, Inselspital, Bern, Switzerland (JB), Department of Neurology, University of Heidelberg, Heidelberg, Germany (TS), Department of Neurology, Slotervaart Medical Center, Amsterdam, The Netherlands (LMdL), University Paris Diderot, Paris, France (EJ), Department of Neurology, University of Heidelberg, Heidelberg, Germany (RV), and Department of Neurology, Hopital Sainte-Anne, Université

Published
2018

42. Study on Gender Specific Variability of Non-Motor Symptoms Including Cardiovascular, Sexual Disorders, Apathy, Hallucinations, Sleep Disorders and Some Miscellaneous Symptoms of Parkinson’s Disease

Author

Dehiya, Anuradha; Assistant Professor, Department of Anatomy, Government Medical College and Hospital, Amritsar - 143001, Punjab, Rai, Sarabjeet Singh; Consultant Neurologist, Department of Neurology, IVY Hospital, Amritsar – 143001, Punjab, Dehiya, Anuradha; Assistant Professor, Department of Anatomy, Government Medical College and Hospital, Amritsar - 143001, Punjab, and Rai, Sarabjeet Singh; Consultant Neurologist, Department of Neurology, IVY Hospital, Amritsar – 143001, Punjab

Abstract

Introduction: Parkinson’s disease is a second most common neurodegenerative disorder after Alzheimer’s disease. It affects 1% of population over age of 50 years. Non-Motor symptoms are common in patients of Parkinson’s disease. These remain undiagnosed most of the time. Aim and Objectives: To analyse gender specific, age related and demographic variability of non-motor symptoms (Cardiovascular symptoms, sleep disorder, hallucination, sexual disorders, apathy, pain and miscellaneous symptoms) of Parkinson’s disease. Materials and Methods: Present study included 100 cases (66 males and 34 females) of Parkinson’s disease presenting at department of neurology, Dayanand Medical College and Hospital, Ludhiana. 30 questionnaires of non-motor symptoms in Hindi and Punjabi were given to patients. Gender, age, duration of non-motor symptoms, Parkinson’s phenotype and complete demographic profile of each patient taken into account for study. Thereafter result were statistically analysed for all parameters. Conclusion: It is concluded that mean age and duration of non-motor symptoms were higher in males as compared to females. It was calculated that there was positive correlation of H&Y with age and non-motor symptoms like Cardiovascular, Sleep related disorder, apathy, pain and miscellaneous symptoms. As H&Y increases there is increase in frequency and severity of symptoms. There was difference in dominant non-motor symptoms among different genders. Sexual dysfunction and sleep disorders were more prominent in males whereas cardiovascular and miscellaneous like excessive sweating were more in females.

Published
2020

43. Post-GWAS analysis of six substance use traits improves the identification and functional interpretation of genetic risk loci

Author

Neurogenetica, Onderzoeksgroep 11, Brain, Onderzoeksgroep 2, Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Neurogenetica, Onderzoeksgroep 11, Brain, Onderzoeksgroep 2, and Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER)

Published
2020

44. An overlapping pattern of cerebral cortical thinning is associated with both positive symptoms and aggression in schizophrenia via the ENIGMA consortium

Author

Affectieve & Psychotische Med., Onderzoek, Brain, Onderzoeksgroep 1, Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Affectieve & Psychotische Med., Onderzoek, Brain, Onderzoeksgroep 1, and Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER)

Published
2020

45. The Relationship Between Polygenic Risk Scores and Cognition in Schizophrenia

Author

Onderzoeksgroep 1, Hersenen-Bedrijfsvoering, Hersenen-Medisch 1, Brain, Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER), Onderzoeksgroep 1, Hersenen-Bedrijfsvoering, Hersenen-Medisch 1, Brain, and Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER)

Published
2020

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