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المؤلفون: Manuela Till, Christine Mundlos, Michaela Neff, Niels Tegtbauer, Holger Storf, Thomas O. F. Wagner, Johanna Schäfer, Holm Graeßner, Jannik Schaaf
المصدر: Der Internist
مصطلحات موضوعية: Gynecology, Care centers, medicine.medical_specialty, Versorgungszentren, business.industry, 010102 general mathematics, Health facilities, Gesundheitsversorgungseinrichtungen, Health personnel, Gesundheitspersonal, 01 natural sciences, Seltene Erkrankungen, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Internal Medicine, medicine, Humans, Patient Care, 030212 general & internal medicine, Patientenportale, Patient portals, 0101 mathematics, business
الوصف: In the European Union a disease is classified as rare if it affects no more than 5 out of 10,000 people. Currently, there are more than 6000 rare diseases, consisting of a large and heterogeneous number of different diseases that are complex in their symptomatology, multidimensional and therefore difficult to classify in everyday medical practice. This complicates the diagnosis and treatment as well as finding a suitable contact person, as there are only a few experts for each individual rare disease. The medical care atlas for rare diseases www.se-atlas.de enables the search for care facilities and patient organizations for specific rare diseases by disease name and presents the search results geographically. It also provides an overview of all German centers for rare diseases, which are a contact point for patients with an unclear diagnosis. The se-atlas serves as a compass through the heterogeneous amount of information on care facilities for rare diseases and provides low-threshold information for a broad user group, from affected persons to members of the medical care team.Eine Erkrankung zählt in der Europäischen Union zu den Seltenen Erkrankungen (SE), wenn diese nicht mehr als 5 von 10.000 Menschen betrifft. Derzeit existiert mit mehr als 6000 SE eine sowohl große als auch heterogene Menge an unterschiedlichen Krankheitsbilder, die in ihrer Symptomatik komplex, vielschichtig und damit im medizinischen Alltag schwierig einzuordnen sind. Dies erschwert Diagnosefindung und Behandlung sowie das Auffinden eines passenden Ansprechpartners, da es nur wenige Experten für jede einzelne SE gibt. Der medizinische Versorgungsatlas für Seltene Erkrankungen www.se-atlas.de ermöglicht anhand von Erkrankungsnamen die Suche nach Versorgungseinrichtungen und Selbsthilfeorganisationen zu bestimmten SE und stellt die Suchergebnisse geografisch dar. Ebenso gibt er einen Überblick über alle deutschen Zentren für SE, die eine Anlaufstelle für betroffene Personen mit unklarer Diagnose darstellen. Der se-atlas dient als Kompass durch die heterogene Menge an Informationen über Versorgungseinrichtungen für SE und stellt niederschwellig Informationen für eine breite Nutzergruppe von Betroffenen bis hin zu Mitgliedern des medizinischen Versorgungsteams bereit.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2e09590c96d6dda0dd35c04727316b9Test
https://doi.org/10.1007/s00108-021-01085-yTest -
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المؤلفون: Irene M.J. Mathijssen, Helene Dollfus, Maurizio Scarpa, Birute Tumiene, Jean-Yves Blay, Holm Graessner, Alberto M. Pereira, Franz Schaefer, Nicoline Hoogerbrugge
المساهمون: Plastic and Reconstructive Surgery and Hand Surgery
المصدر: Journal of Community Genetics
Journal of Community Genetics, 12(2), 217-229. SPRINGER HEIDELBERG
Journal of Community Genetics, 12(2), 217-229. Springer-Verlag
Journal of Community Genetics, 12, 217-229
Journal of Community Genetics, 12, 2, pp. 217-229مصطلحات موضوعية: 0303 health sciences, Economic growth, Epidemiology, business.industry, Corporate governance, 030305 genetics & heredity, Public Health, Environmental and Occupational Health, Constructive, 03 medical and health sciences, Digital ecosystem, Original Arrticle, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Brexit, Software deployment, 030220 oncology & carcinogenesis, Political science, Sustainability, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Member state, Human resources, business, Genetics (clinical)
الوصف: Contains fulltext : 245048.pdf (Publisher’s version ) (Closed access) European Reference Networks (ERNs) were founded on the principle that many rare disease (RD) issues are pan-European and any single Member State cannot solve them alone. In 2021, ERNs are already in the deployment stage; however, their day-to-day functioning and realization of their potential are still severely hampered by many challenges, including issues in governance and regulation, lack of legal status, insufficient and unsustainable funding, lack of ERN integration into national systems, endangered collaboration with UK RD experts due to Brexit, insufficient exploitation of ERN potential in RD research, underappreciation of highly qualified human resources, problems with the involvement of patient representatives, and still unclear place of ERNs in the overall European RD and digital ecosystem. Bold and innovative solutions that must be taken to solve these challenges inevitably involve pan-European collaboration across several sectors and among multistakeholder RD communities and in many cases crucially rely on the constructive dialogue and coherent, united decisions of national and European authorities that are based on common EU values. Importantly, unresolved challenges may have a strong impact on the further sustainability of ERNs and their ability to realize full potential in addressing huge unmet needs of RD patients and their families.
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80c9c41a23004296fe04820098ab266cTest
http://europepmc.org/articles/PMC7968406Test -
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المؤلفون: C. Painous, Holm Graessner, N.J.H. van Os, Marina A. J. Tijssen, Wassilios G. Meissner, B.P.C. van de Warrenburg, Anna Delamarre, I. Michailoviene, María-José Martí, Carola Reinhard, Algirdas Utkus
المساهمون: Movement Disorder (MD)
المصدر: European Journal of Neurology, 27(8), 1493-1500. Wiley
European journal of neurology, Hoboken : Wiley, 2020, first published online, p. [1-8]
European Journal of Neurology, 27, 8, pp. 1493-1500
European Journal of Neurology, 27, 1493-1500
European journal of neurology, Hoboken : Wiley, 2020, vol. 27, iss. 8, p. 1493-1500
European Journal of Neurologyمصطلحات موضوعية: medicine.medical_specialty, Movement disorders, Neurodegeneration with brain iron accumulation, Disease, 03 medical and health sciences, 0302 clinical medicine, Central Nervous System Diseases, Surveys and Questionnaires, Humans, Medicine, media_common.cataloged_instance, survey, European Union, 030212 general & internal medicine, Disease management (health), European union, Genetic testing, media_common, Dystonia, disease management, Europe, movement disorders, rare diseases, medicine.diagnostic_test, business.industry, Paroxysmal dyskinesia, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Europe, Cross-Sectional Studies, Neurology, Dystonic Disorders, Family medicine, movement disorders, Original Article, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصف: Contains fulltext : 225128.pdf (Publisher’s version ) (Open Access) BACKGROUND AND PURPOSE: The diagnosis of rare movement disorders is difficult and specific management programmes are not well defined. Thus, in order to capture and assess care needs, the European Reference Network for Rare Neurological Diseases has performed an explorative care need survey across all European Union (EU) countries. METHODS: This is a multicentre, cross-sectional study. A survey about the management of different rare movement disorders (group 1, dystonia, paroxysmal dyskinesia and neurodegeneration with brain iron accumulation; group 2, ataxias and hereditary spastic paraparesis; group 3, atypical parkinsonism; group 4, choreas) was sent to an expert in each group of disorders from each EU country. RESULTS: Some EU countries claimed for an increase of teaching courses. Genetic testing was not readily available in a significant number of countries. Regarding management, patients' accessibility to tertiary hospitals, to experts and to multidisciplinary teams was unequal between countries and groups of diseases. The availability of therapeutic options, such as botulinum toxin or more invasive treatments like deep brain stimulation, was limited in some countries. CONCLUSIONS: The management of these conditions in EU countries is unequal. The survey provides evidence that a European care-focused network that is able to address the unmet rare neurological disease care needs and inequalities is highly warranted.
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a7183394d29aa78a710987fe66dcc9aTest
https://doi.org/10.1111/ene.14302Test -
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المؤلفون: Christine Klein, Alexander Münchau, Holm Graessner, Ludger Schöls
المصدر: Der Nervenarzt. 90:796-803
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, General Medicine, Case conference, language.human_language, 030227 psychiatry, German, 03 medical and health sciences, Psychiatry and Mental health, 0302 clinical medicine, Neurology, language, medicine, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصف: Die 2017 auf der Wartburg in Eisenach gegrundete Deutsche Akademie fur Seltene Neurologische Erkrankungen (DASNE; dasne.de) ist Wegbereiter fur eine optimierte Diagnostik und personalisierte Betreuung und Behandlung von Patienten mit seltenen neurologischen Erkrankungen aller Altersgruppen. Als erste derartige Einrichtung in Deutschland verfolgt die Akademie das Ziel, Expertise im Bereich seltener neurologischer Erkrankungen vom Kindes- bis zum Erwachsenenalter durch strukturierten personlichen Austausch interdisziplinarer Experten zu bundeln und kontinuierlich weiterzuentwickeln. Kernelemente der DASNE, fur die auch eine webbasierte Plattform entwickelt wurde, sind multidisziplinare Falldiskussionen und facherubergreifende Workshops zu allen klinischen Aspekten seltener Erkrankungen. Wesentliche weitere Ziele sind die Forderung von Translation und eine gezielte Nachwuchsforderung.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::240e8c5e3d226723449b549d399ed127Test
https://doi.org/10.1007/s00115-019-0750-2Test -
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المؤلفون: Holm Graessner, Franz Schäfer, Maurizio Scarpa, Thomas O. F. Wagner
المصدر: Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz. 60:537-541
مصطلحات موضوعية: business.industry, Public Health, Environmental and Occupational Health, Public administration, behavioral disciplines and activities, language.human_language, German, 03 medical and health sciences, 0302 clinical medicine, Action (philosophy), Order (exchange), Action plan, Political science, Health care, language, media_common.cataloged_instance, 030212 general & internal medicine, European union, Lagging, business, 030217 neurology & neurosurgery, Pace, media_common
الوصف: Starting in 2017, European Reference Networks (ERNs) for rare disease patients will be established in the European Union. ERNs will pool expertise in clinical centres and will establish cross-border exchange mechanisms in order to facilitate access to diagnosis and care. The integration of ERNs in the German healthcare system will pose a significant challenge. The main issues include: (i) competition between national and European interests in the conflict of national responsibility and intended cross-border availability of healthcare services, (ii) the lack of a funding concept, and (iii) the establishment of ERNs in EU member states in which implementation of national action plans for people with rare diseases is lagging behind. The lower implementation pace of the centre model that is part of the German action plan and the higher level of detail of the ERNs in terms of services and activities provided will likely lead to an appreciation that achieved patient benefits are attributed to ERNs.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b1067fd28d8d1ae98ba6014aac576945Test
https://doi.org/10.1007/s00103-017-2533-xTest -
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المؤلفون: Holm Graessner
المصدر: medizinische genetik. 29:8-12
مصطلحات موضوعية: Gynecology, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, business.industry, Genetics, Reproductive medicine, medicine, Genetics(clinical), 030212 general & internal medicine, business, 030210 environmental & occupational health, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecda63bc40ff92b5958c609ac6fcd32cTest
https://doi.org/10.1007/s11825-017-0119-5Test -
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المؤلفون: Eivind Berge, Florian Härtig, Robin Lemmens, Heinrich J. Audebert, Patrik Michel, Holm Graessner, Peter Rosenberger, Aneesh B. Singhal, Johannes Hüsing, Joan Montaner, Daniel Strbian, Susanne Siemonsen, Turgut Tatlisumak, Guillaume Turc, Jean-Claude Baron, Robert Mikulik, Gary Randall, Martin Dichgans, Roland Veltkamp, Jens Fiehler, Carlos A. Molina, Sven Poli
المصدر: Stroke. 49
مصطلحات موضوعية: Advanced and Specialized Nursing, medicine.medical_specialty, business.industry, 030204 cardiovascular system & hematology, medicine.disease, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Intervention (counseling), Ischemic stroke, Cardiology, medicine, Neurology (clinical), Cardiology and Cardiovascular Medicine, business, Stroke, 030217 neurology & neurosurgery
الوصف: Introduction/Hypothesis: Despite effective reperfusion therapies, outcome following ischemic stroke (IS) often remains poor. Shortly after IS onset, the already necrotic area is surrounded by the severely hypoperfused but still viable penumbra. Sustaining the latter may widen treatment time windows and improve outcomes. As tissue damage in IS is primarily mediated by hypoxia, increasing penumbral oxygen (O2) supply seems a logical approach. Normobaric hyperoxygenation (NBHO) increased penumbral O2 and attenuated brain injury when initiated early in animal models of transient vessel occlusion. The few clinical trials conducted so far did not adapt these insights: NBHO initiation was late (treatment windows of more than 9 hours) and patients eligible for intravenous thrombolysis and endovascular treatment were excluded. Methods: Multi-center, randomized phase-II proof-of-concept trial studying NBHO adjunct to standard IS treatment; adaptive patient sample size of 180 to 460 depending on interim analysis. Eligibility: Patients with an acute large vessel occlusion in the anterior circulation (terminal ICA plus M1, proximal M1, or distal M1) and an Alberta Stroke Program Early CT Score of 7 or higher. Study treatment must be initiated prior to recanalization therapy and within 3 hours after IS onset. NBHO is achieved by administration of high-flow O2 (40 L/min) via non-rebreather face mask with reservoir or FiO2 of 1.0 during mechanical ventilation. NBHO will be stopped after endovascular treatment or applied for a maximum of four hours in case of not-attempted endovascular treatment. Controls will receive standard O2 supplementation whenever required. Primary Endpoint: Infarct growth from baseline to 24 hours; key secondary endpoint: Δ24h-NIHSS. Conclusion: PROOF is the first clinical trial to incorporate two cornerstones of effective experimental NBHO: early initiation and fast reperfusion. If proven beneficial, phase-III trials may be undertaken. Considering its low cost, NBHO may impact stroke care worldwide.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8c34318b1cccc2b63936f72d9c533659Test
https://doi.org/10.1161/str.49.suppl_1.tmp15Test -
8Continuous leg dyskinesia assessment in Parkinson's disease -clinical validity and ecological effect
المؤلفون: J. Artur Serrano, Svenja Hucker, Holm Graessner, Yiannos Manoli, Ulrike Braatz, Walter Maetzler, Daniela Berg, Joaquim J. Ferreira, Janet M.T. van Uem, Tanja Heger, Robert Ramsperger, Markus A. Hobert, Stefan Meckler
المصدر: Parkinsonism & related disorders 26, 41-46 (2016). doi:10.1016/j.parkreldis.2016.02.007
مصطلحات موضوعية: 0301 basic medicine, Male, Dyskinesia, Drug-Induced, Parkinson's disease, Ecological validity, Video Recording, adverse effects [Levodopa], 01 natural sciences, Severity of Illness Index, epidemiology [Dyskinesia, Drug-Induced], Cohort Studies, Antiparkinson Agents, Levodopa, 0302 clinical medicine, methods [Video Recording], diagnosis [Dyskinesia, Drug-Induced], Ecology, Parkinsonism, Parkinson Disease, Middle Aged, Neurology, Clinical validity, Female, epidemiology [Parkinson Disease], physiopathology [Parkinson Disease], medicine.symptom, Psychology, Hyperkinesia, diagnosis [Parkinson Disease], medicine.drug, medicine.medical_specialty, 03 medical and health sciences, Physical medicine and rehabilitation, Rating scale, adverse effects [Antiparkinson Agents], otorhinolaryngologic diseases, medicine, Humans, ddc:610, Aged, Leg, physiopathology [Dyskinesia, Drug-Induced], business.industry, 010401 analytical chemistry, Reproducibility of Results, medicine.disease, Gait, 0104 chemical sciences, Clinical trial, 030104 developmental biology, Dyskinesia, physiopathology [Leg], Physical therapy, Neurology (clinical), Geriatrics and Gerontology, business, 030217 neurology & neurosurgery
الوصف: Dyskinesias in Parkinson's disease (PD) patients are a common side effect of long-term dopaminergic therapy and are associated with motor dysfunctions, including gait and balance deficits. Although promising compounds have been developed to treat these symptoms, clinical trials have failed. This failure may, at least partly, be explained by the lack of objective and continuous assessment strategies. This study tested the clinical validity and ecological effect of an algorithm that detects and quantifies dyskinesias of the legs using a single ankle-worn sensor.Twenty-three PD patients (seven with leg dyskinesias) and 13 control subjects were investigated in the lab. Participants performed purposeful daily activity-like tasks while being video-taped. Clinical evaluation was performed using the leg dyskinesia item of the Unified Dyskinesia Rating Scale. The ecological effect of the developed algorithm was investigated in a multi-center, 12-week, home-based sub-study that included three patients with and seven without dyskinesias.In the lab-based sub-study, the sensor-based algorithm exhibited a specificity of 98%, a sensitivity of 85%, and an accuracy of 0.96 for the detection of dyskinesias and a correlation level of 0.61 (p 0.001) with the clinical severity score. In the home-based sub-study, all patients could be correctly classified regarding the presence or absence of leg dyskinesias, supporting the ecological relevance of the algorithm.This study provides evidence of clinical validity and ecological effect of an algorithm derived from a single sensor on the ankle for detecting leg dyskinesias in PD patients. These results should motivate the investigation of leg dyskinesias in larger studies using wearable sensors.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2024507411c330ef649712f0d28d315Test
https://pub.dzne.de/record/138585Test -
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المؤلفون: Walter Maetzler, Andrea Thoms, Peter Weber, Ricardo M. Fernandes, Josefa Domingos, Ana T. Santos, Catarina Godinho, Daisy Abreu, Tom Isaacs, Artur Serrano, Joy Duffen, Joaquim J. Ferreira, Helen Matthews, Ahmed Al-Jawad, Guilherme Cunha, Holm Graessner, Frank Larsen, Stefan Sollinger, Nilza Gonçalves
المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Journal of NeuroEngineering and Rehabilitationمصطلحات موضوعية: 030506 rehabilitation, medicine.medical_specialty, Parkinson's disease, Wearable computer, Health Informatics, Review, Outcomes, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, medicine, Sensitivity to change, Psychiatry, Reliability (statistics), Wearable technology, business.industry, Triaxial accelerometer, Rehabilitation, Quantitative assessment, Monitoring technologies, medicine.disease, Wearable devices, Gait analysis, Parkinson’s disease, Classification methods, 0305 other medical science, business, 030217 neurology & neurosurgery
الوصف: This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0Test/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0Test/) applies to the data made available in this article, unless otherwise stated. "Background: There is growing interest in having objective assessment of health-related outcomes using technology-based devices that provide unbiased measurements which can be used in clinical practice and scientific research. Many studies have investigated the clinical manifestations of Parkinson’s disease using such devices. However, clinimetric properties and clinical validation vary among the different devices. Methods: Given such heterogeneity, we sought to perform a systematic review in order to (i) list, (ii) compare and (iii) classify technological-based devices used to measure motor function in individuals with Parkinson's disease into three groups, namely wearable, non-wearable and hybrid devices. A systematic literature search of the PubMed database resulted in the inclusion of 168 studies. These studies were grouped based on the type of device used. For each device we reviewed availability, use, reliability, validity, and sensitivity to change. The devices were then classified as (i) ‘recommended’, (ii) ‘suggested’ or (iii) ‘listed’ based on the following criteria: (1) used in the assessment of Parkinson’s disease (yes/no), (2) used in published studies by people other than the developers (yes/no), and (3) successful clinimetric testing (yes/no). Results: Seventy-three devices were identified, 22 were wearable, 38 were non-wearable, and 13 were hybrid devices. In accordance with our classification method, 9 devices were ‘recommended’, 34 devices were ‘suggested’, and 30 devices were classified as ‘listed’. Within the wearable devices group, the Mobility Lab sensors from Ambulatory Parkinson’s Disease Monitoring (APDM), Physilog®, StepWatch 3, TriTrac RT3 Triaxial accelerometer, McRoberts DynaPort, and Axivity (AX3) were classified as ‘recommended’. Within the non-wearable devices group, the Nintendo Wii Balance Board and GAITRite® gait analysis system were classified as ‘recommended’. Within the hybrid devices group only the Kinesia® system was classified as ‘recommended’." The present research is part of the EU project SENSE-PARK, funded under the Seventh Framework Programme, Cooperation – ICT, Grant Agreement no. 288557.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aba1645c156e5ae1939a07c76dc8784fTest
https://hdl.handle.net/10400.26/12867Test -
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المؤلفون: Ludger Schöls, Holm Graessner, Ingeborg Krägeloh-Mann, Thomas Klockgether, Thomas Gasser, Alexander Münchau
المصدر: Aktuelle Neurologie 45(03), 178-186 (2017). doi:10.1055/s-0043-114000
مصطلحات موضوعية: Gynecology, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, 030225 pediatrics, media_common.quotation_subject, medicine, Neurology (clinical), Art, ddc:610, Orphan diseases, 030217 neurology & neurosurgery, media_common
الوصف: ZusammenfassungSeltene Erkrankungen sind definitionsgemäß jede für sich selten, aber wegen ihrer großen Zahl in ihrer Gesamtheit häufig. Hierdurch besteht bei Ärzten nur selten Erfahrung für die einzelnen Erkrankungen; gleichzeitig stellt die Erkrankungsgruppe eine häufige Herausforderung dar. Aufgrund der mangelnden Kenntnisse bleiben viele Patienten mit seltenen Erkrankungen oft lange ohne Diagnose und optimale Versorgung. Das deutsche Ausbildungssystem ist nicht darauf ausgerichtet, Erfahrung mit seltenen Erkrankungen zu vermitteln. Die neurologische Ausbildung bedarf einer Umstrukturierung, um die Expertise für ein breites Erkrankungsspektrum zu vermitteln. Die an vielen Orten neu gegründeten Zentren für seltene Erkrankungen (ZSE) und das vom BMBF und BMG ins Leben gerufene Nationale Aktionsbündnis für Menschen mit Seltenen Erkrankungen (NAMSE) bilden hierfür einen guten Ausgangspunkt. Eine Akademie für seltene neurologische Erkrankungen befindet sich im Aufbau. Register für seltene Erkrankungen sind für die Sammlung repräsentativer Kohorten unverzichtbar und stellen die Grundlage für eine Verbesserung der Forschung und Entwicklung neuer Therapien dar. Spezifische Vergütungssysteme für die oft aufwendige und interdisziplinäre Versorgung müssen geschaffen werden.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::405347aab2e195abc9b2d6576c7a4b19Test