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Wyszukujesz frazę ""Rare Diseases"" wg kryterium: Temat


Tytuł :
[The analysis of detection of rare diseases not included into listings of orphan diseases with preferential medication support].
Autorzy :
Komarov IA; N. A. Semashko National Research Institute of Public Health, 105064, Moscow, Russia, .
Krasilnikova EI; N. A. Semashko National Research Institute of Public Health, 105064, Moscow, Russia.
Zhulev IA; The All-Russian Union of Public Associations of Patients, 125167, Moscow, Russia.
Zinchenko RF; N. A. Semashko National Research Institute of Public Health, 105064, Moscow, Russia.; The Federal State Budget Scientific Institution 'The N. P. Bochkov Medical Genetic Research Center', 115522, Moscow, Russia.
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Źródło :
Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny [Probl Sotsialnoi Gig Zdravookhranenniiai Istor Med] 2020 Sep; Vol. 28 (5), pp. 893-902.
Typ publikacji :
Journal Article
MeSH Terms :
Orphan Drug Production*
Rare Diseases*/diagnosis
Rare Diseases*/drug therapy
Rare Diseases*/epidemiology
Humans ; Prevalence ; Registries ; Russia/epidemiology
Czasopismo naukowe
Tytuł :
Upfront Radiotherapy in Patients With Asymptomatic Incurable Rectal Cancer: A Retrospective Cohort Study.
Autorzy :
Jonsson G; Department of Oncology, Mälarsjukhuset, Eskilstuna, Sweden.
Philipson L; Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
Villman K; Department of Oncology, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
Valachis A; Department of Oncology, Faculty of Medicine and Health, Örebro University, Örebro, Sweden .
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Źródło :
Anticancer research [Anticancer Res] 2020 Oct; Vol. 40 (10), pp. 5853-5860.
Typ publikacji :
Journal Article
MeSH Terms :
Asymptomatic Diseases/*therapy
Rare Diseases/*radiotherapy
Rectal Neoplasms/*radiotherapy
Adult ; Aged ; Aged, 80 and over ; Asymptomatic Diseases/epidemiology ; Cohort Studies ; Combined Modality Therapy ; Female ; Humans ; Male ; Medical Oncology/trends ; Middle Aged ; Palliative Care ; Proportional Hazards Models ; Rare Diseases/drug therapy ; Rare Diseases/pathology ; Rare Diseases/surgery ; Rectal Neoplasms/drug therapy ; Rectal Neoplasms/pathology ; Rectal Neoplasms/surgery ; Sweden/epidemiology
Czasopismo naukowe
Tytuł :
[Rare is frequent! Pain and pain therapy in rare diseases].
Autorzy :
Zernikow B; Deutsches Kinderschmerzzentrum und Kinderpalliativzentrum Datteln, Vestische Kinder- und Jugendklinik Datteln, Lehrstuhl für Kinderschmerztherapie und Pädiatrische Palliativmedizin, Universität Witten/Herdecke, Dr.-Friedrich-Steiner-Str. 5, 45711, Datteln, Deutschland. .
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Transliterated Title :
Selten ist häufig! Schmerzen und Schmerzbehandlung bei seltenen Erkrankungen.
Źródło :
Schmerz (Berlin, Germany) [Schmerz] 2020 Oct; Vol. 34 (5), pp. 373-375.
Typ publikacji :
Editorial
MeSH Terms :
Pain*/etiology
Pain Management*
Rare Diseases*/complications
Rare Diseases*/therapy
Humans
Opinia redakcyjna
Tytuł :
Thalassemia in the emergency department: special considerations for a rare disease.
Autorzy :
Saliba AN; Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN, USA.
Atoui A; Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Labban M; Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Hamade H; Department of Emergency Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Bou-Fakhredin R; Division of Hematology and Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Mufarrij A; Department of Emergency Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Taher AT; Division of Hematology and Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon. .
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Źródło :
Annals of hematology [Ann Hematol] 2020 Sep; Vol. 99 (9), pp. 1967-1977. Date of Electronic Publication: 2020 Jul 03.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Emergency Medical Services/*trends
Emergency Service, Hospital/*trends
Rare Diseases/*diagnostic imaging
Rare Diseases/*therapy
Thalassemia/*diagnostic imaging
Thalassemia/*therapy
Betacoronavirus ; Blood Transfusion/methods ; Blood Transfusion/trends ; Cardiomyopathies/diagnostic imaging ; Cardiomyopathies/epidemiology ; Cardiomyopathies/therapy ; Coronavirus Infections/diagnostic imaging ; Coronavirus Infections/epidemiology ; Coronavirus Infections/therapy ; Diagnosis, Differential ; Emergency Medical Services/methods ; Humans ; Liver Diseases/diagnostic imaging ; Liver Diseases/epidemiology ; Liver Diseases/therapy ; Pandemics ; Pneumonia, Viral/diagnostic imaging ; Pneumonia, Viral/epidemiology ; Pneumonia, Viral/therapy ; Rare Diseases/epidemiology ; Thalassemia/epidemiology
SCR Disease Name :
COVID-19
Czasopismo naukowe
Tytuł :
Rare cancers of unknown etiology: lessons learned from a European multi-center case-control study.
Autorzy :
Lynge E; Nykøbing Falster Hospital, University of Copenhagen, Ejegodvej 63, 4800, Nykøbing Falster, Denmark. .
Kaerlev L; Research Unit of Clinical Epidemiology, Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; Center for Clinical Epidemiology, Odense University Hospital, Kløvervænget 30, 5000, Odense C, Denmark.
Olsen J; Department of Clinical Epidemiology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.
Sabroe S; Department of Public Health, Aarhus University, Bartholins Allé 2, 8000, Aarhus C, Denmark.
Afonso N; Serviço de Oncologia, Centro Hospitalar E Universitário Do Porto, Largo Do Prof. Abel Salazar, 4099-001, Porto, Portugal.
Ahrens W; Faculty of Mathematics and Computer Science, University of Bremen, Bremen, Germany.; Leibniz Institute for Prevention Research and Epidemiology - BIPS, Achterstrasse 30, E 28359, Bremen, Germany.
Eriksson M; Skane University Hospital and Lund University, Entrégatan 7, 222 42, Lund, Sweden.
Merletti F; Cancer Epidemiology, Department of Medical Sciences, University of Turin, Via Santena 7, 10126, Torino, Italy.
Morales-Suarez-Varelas M; Department of Preventive Medicine and Public Health, Food Sciences, Toxicology and Legal Medicine, School of Pharmacy, University of Valencia, Avenida Vicente Andres Estellés s/n Burjassot, S46100, Valencia, Spain.; Biomedical Research Consortium in Epidemiology and Public Health Network (CIBERESP), Madrid, Spain.
Stengrevics A; A. Deglava 152/3-120, Riga, 1021, Latvia.
Guénel P; Center for Research in Epidemiology and Population Health (CESP), Cancer and Environment team, Inserm U1018, Université Paris Sud, Université Paris Saclay, 16 avenue Paul Vaillant-Couturier, 94800, Villejuif, France.
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Źródło :
European journal of epidemiology [Eur J Epidemiol] 2020 Oct; Vol. 35 (10), pp. 937-948. Date of Electronic Publication: 2020 Jul 17.
Typ publikacji :
Journal Article
MeSH Terms :
Neoplasms/*etiology
Occupational Diseases/*etiology
Occupational Exposure/*adverse effects
Rare Diseases/*etiology
Adult ; Aged ; Case-Control Studies ; Europe/epidemiology ; Female ; Humans ; Incidence ; Male ; Middle Aged ; Neoplasms/epidemiology ; Occupational Diseases/epidemiology ; Rare Diseases/epidemiology ; Risk Factors
Czasopismo naukowe
Tytuł :
Current status and perspectives of patient-derived rare cancer models.
Autorzy :
Kondo T; Division of Rare Cancer Research, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan. .
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Źródło :
Human cell [Hum Cell] 2020 Oct; Vol. 33 (4), pp. 919-929. Date of Electronic Publication: 2020 Jun 14.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Rare Diseases*
Xenograft Model Antitumor Assays*/methods
Animals ; Cell Line, Tumor ; Humans ; Organoids ; Sarcoma
Czasopismo naukowe
Tytuł :
[Pain management in rare diseases].
Autorzy :
Emmert D; Zentrum für seltene Erkrankungen (ZSEB), Universitätsklinikum Bonn, Venusberg Campus 1, 53127, Bonn, Deutschland.
Heuchemer L; Zentrum für seltene Erkrankungen (ZSEB), Universitätsklinikum Bonn, Venusberg Campus 1, 53127, Bonn, Deutschland.
Sellin J; Zentrum für seltene Erkrankungen (ZSEB), Universitätsklinikum Bonn, Venusberg Campus 1, 53127, Bonn, Deutschland.
Reimann J; Klinik und Poliklinik für Neurologie, Universitätsklinikum Bonn, Bonn, Deutschland.
Cuhls H; Klinik und Poliklinik für Palliativmedizin, Bonn, Deutschland.
Kornblum C; Zentrum für seltene Erkrankungen (ZSEB), Universitätsklinikum Bonn, Venusberg Campus 1, 53127, Bonn, Deutschland.; Klinik und Poliklinik für Neurologie, Universitätsklinikum Bonn, Bonn, Deutschland.
Seidel H; Centrum für Blutgerinnungsstörungen und Transfusionsmedizin (CBT), Bonn, Deutschland.
Conrad R; Klinik und Poliklinik für Psychosomatische Medizin und Psychotherapie, Universitätsklinikum Bonn, Bonn, Deutschland.
Mücke M; Zentrum für seltene Erkrankungen (ZSEB), Universitätsklinikum Bonn, Venusberg Campus 1, 53127, Bonn, Deutschland. .
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Transliterated Title :
Schmerztherapie bei seltenen Erkrankungen.
Źródło :
Schmerz (Berlin, Germany) [Schmerz] 2020 Oct; Vol. 34 (5), pp. 447-459.
Typ publikacji :
Journal Article
MeSH Terms :
Muscular Dystrophy, Facioscapulohumeral*/therapy
Pain Management*
Rare Diseases*/complications
Humans
Czasopismo naukowe
Tytuł :
The oldest case of osteopetrosis in a human skeleton: exploring the history of rare diseases.
Autorzy :
Gresky J; Department of Natural Sciences, Human Bioarchaeology, German Archaeological Institute, Berlin 14195, Germany. Electronic address: .
Sokiranski R; Das Radiologische Zentrum, Heidelberg, Germany.
Witzmann F; Museum für Naturkunde, Leibniz Institute for Evolution and Biodiversity Science, Berlin, Germany.
Petiti E; Department of Natural Sciences, Human Bioarchaeology, German Archaeological Institute, Berlin 14195, Germany.
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Źródło :
The lancet. Diabetes & endocrinology [Lancet Diabetes Endocrinol] 2020 Oct; Vol. 8 (10), pp. 806-808.
Typ publikacji :
Case Reports; Historical Article; Letter
MeSH Terms :
Anthropology/*history
Bone and Bones/*physiopathology
Carbon Isotopes/*analysis
Osteopetrosis/*complications
Rare Diseases/*etiology
Adult ; History, Ancient ; Humans ; Male ; Rare Diseases/pathology ; Young Adult
Raport
Tytuł :
Case series: an essential study design to build knowledge and pose hypotheses for rare and new diseases.
Autorzy :
Torres-Duque CA; Methods in Epidemiologic, Clinical, and Operations Research-MECOR-program, American Thoracic Society/Asociación Latinoamericana del Tórax, Montevideo, Uruguay.; CINEUMO Research Center, Fundación Neumológica Colombiana, Bogota, Colombia.; Universidad de la Sabana, Bogota, Colombia.
Patino CM; Methods in Epidemiologic, Clinical, and Operations Research-MECOR-program, American Thoracic Society/Asociación Latinoamericana del Tórax, Montevideo, Uruguay.; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Ferreira JC; Methods in Epidemiologic, Clinical, and Operations Research-MECOR-program, American Thoracic Society/Asociación Latinoamericana del Tórax, Montevideo, Uruguay.; Divisão de Pneumologia, Instituto do Coração, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo (SP) Brasil.
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Źródło :
Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia [J Bras Pneumol] 2020 Sep 07; Vol. 46 (4), pp. e20200389. Date of Electronic Publication: 2020 Sep 07.
Typ publikacji :
Journal Article
MeSH Terms :
Rare Diseases*
Research Design*
Humans ; Research
Czasopismo naukowe
Tytuł :
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.
Autorzy :
Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06032, USA. Electronic address: .
Ravanmehr V; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Jacobsen JOB; William Harvey Research Institute, Charterhouse Square, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
Danis D; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Zhang XA; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Carmody LC; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Gargano MA; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Thaxton CL; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.
Karlebach G; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Reese J; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
Holtgrewe M; Charité Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany.
Köhler S; Charité Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany.
McMurry JA; Oregon State University, Corvallis, OR 97331, USA.
Haendel MA; Oregon State University, Corvallis, OR 97331, USA.
Smedley D; William Harvey Research Institute, Charterhouse Square, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
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Corporate Authors :
UNC Biocuration Core; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.
Źródło :
American journal of human genetics [Am J Hum Genet] 2020 Sep 03; Vol. 107 (3), pp. 403-417. Date of Electronic Publication: 2020 Aug 04.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Computational Biology*
Databases, Genetic*
Genomics*
Rare Diseases/*diagnosis
Algorithms ; Exome/genetics ; Humans ; Phenotype ; Rare Diseases/genetics ; Software
Czasopismo naukowe
Tytuł :
Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic.
Autorzy :
Brizola E; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Adami G; Rheumatology Unit, University of Verona, Verona, Italy.
Baroncelli GI; Division of Pediatrics, Department of Obstetrics, Gynecology and Pediatrics, University Hospital, Pisa, Italy.
Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Berardi P; Italian Osteogenesis Imperfecta Association (As.It.O.I), Olgiate Molgora (LC), Italy.
Boero S; Department of Paediatric Orthopaedics, IRCCS Giannina Gaslini Institute, Children's Hospital, Genoa, Italy.
Brandi ML; Department of Experimental Biochemical and Clinical Sciences, University of Florence and Fondazione FIRMO, Florence, Italy.
Casareto L; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Castagnola E; Infectious Disease Department, Giannina Gaslini Institute, IRCCS, Genoa, Italy.
Fraschini P; Scientific Institute, IRCCS E. Medea, Bosisio Parini (LC), Italy.
Gatti D; Rheumatology Unit, University of Verona, Verona, Italy.
Giannini S; Department of Medicine, Clinica Medica 1, University of Padova and Regional Centre for Osteoporosis, Padua, Italy.
Gonfiantini MV; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Landoni V; Valduce Hospital - Villa Beretta Rehabilitation Centre, Lecco, Italy.
Magrelli A; National Center for Drug, Research and Evaluation, Istituto Superiore di Sanità, Rome, Italy.
Mantovani G; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
Michelis MB; Department of Paediatric Orthopaedics, IRCCS Giannina Gaslini Institute, Children's Hospital, Genoa, Italy.
Nasto LA; Department of Paediatric Orthopaedics, IRCCS Giannina Gaslini Institute, Children's Hospital, Genoa, Italy.
Panzeri L; Italian Osteogenesis Imperfecta Association (As.It.O.I), Olgiate Molgora (LC), Italy.
Pianigiani E; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Scopinaro A; Italian Federation of Rare Diseases Patients Associations (UNIAMO FIMR), Rome, Italy.
Trespidi L; Obstetrics and Gynecologic Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Vianello A; Respiratory Pathophysiology Division, University of Padua, Padua, Italy.
Zampino G; Rare Diseases and Birth Defects Unit, Dipartimento di Scienza della Salute della Donna, del Bambino e di Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.
Sangiorgi L; Department of Rare Skeletal Disorders & CLIBI Laboratory, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. .
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Aug 31; Vol. 15 (1), pp. 228. Date of Electronic Publication: 2020 Aug 31.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Betacoronavirus*
Bone Diseases/*complications
Coronavirus Infections/*complications
Pneumonia, Viral/*complications
Rare Diseases/*complications
Remote Consultation/*standards
Aged ; Algorithms ; Bone Diseases/therapy ; Child ; Coronavirus Infections/prevention & control ; Coronavirus Infections/therapy ; Female ; Humans ; Pandemics/prevention & control ; Pneumonia, Viral/prevention & control ; Pneumonia, Viral/therapy ; Pregnancy ; Rare Diseases/therapy ; Wounds and Injuries
SCR Disease Name :
COVID-19
Czasopismo naukowe
Tytuł :
How Do Patients and Doctors Perceive Medical Services for Rare Diseases Differently in China? Insights from Two National Surveys.
Autorzy :
Gong S; Department of Pharmacy Business and Administration, School of Pharmacy, Tongji Medical College of Huazhong University of Science and Technology, Wuhan 430030, China.
Li D; Department of Pharmacy Business and Administration, School of Pharmacy, Tongji Medical College of Huazhong University of Science and Technology, Wuhan 430030, China.
Dong D; JC School of Public Health and Primary Care, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China.; Shenzhen Research Institute of the Chinese University of Hong Kong, Shenzhen 518057, China.
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Źródło :
International journal of environmental research and public health [Int J Environ Res Public Health] 2020 Aug 17; Vol. 17 (16). Date of Electronic Publication: 2020 Aug 17.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Quality of Life*
Rare Diseases*/diagnosis
Rare Diseases*/therapy
Adolescent ; Adult ; Aged ; China ; Cross-Sectional Studies ; Female ; Humans ; Male ; Middle Aged ; Surveys and Questionnaires ; Young Adult
Czasopismo naukowe
Tytuł :
[Methods for quality of life assessment in children with orphanic diseases].
Autorzy :
Makarova EV; N. A. Semashko National Research Institute of Public Health, 105064, Moscow, Russia, .; FSBI 'National Medical Research Center of Rehabilitation and Balneology' of the Ministry of Health of Russian Federation, 121099, Moscow, Russia.
Krysanov IS; N. A. Semashko National Research Institute of Public Health, 105064, Moscow, Russia.; FSBEI HE MGUPP Medical Institute of Continuing Education, 125080, Moscow, Russia.
Vasilyeva TP; N. A. Semashko National Research Institute of Public Health, 105064, Moscow, Russia.
Alexandrova OY; N. A. Semashko National Research Institute of Public Health, 105064, Moscow, Russia.
Malachova AR; N. A. Semashko National Research Institute of Public Health, 105064, Moscow, Russia.
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Źródło :
Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny [Probl Sotsialnoi Gig Zdravookhranenniiai Istor Med] 2020 Aug; Vol. 28 (Special Issue), pp. 778-784.
Typ publikacji :
Journal Article
MeSH Terms :
Quality of Life*
Rare Diseases*
Adolescent ; Child ; Humans ; Reproducibility of Results ; Surveys and Questionnaires
Czasopismo naukowe
Tytuł :
Charting Early Developmental Trajectory of a Pilot Rare Disease Registry in Slovenia.
Autorzy :
Stanimirovic D; National Institute of Public Health, 1000 Ljubljana, Slovenia.
Murko E; National Institute of Public Health, 1000 Ljubljana, Slovenia.
Battelino T; UMC - University Children's Hospital Ljubljana, 1000 Ljubljana, Slovenia.; University of Ljubljana, Faculty of Medicine, 1000 Ljubljana, Slovenia.
Groselj U; UMC - University Children's Hospital Ljubljana, 1000 Ljubljana, Slovenia.
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Źródło :
Studies in health technology and informatics [Stud Health Technol Inform] 2020 Jun 26; Vol. 272, pp. 213-216.
Typ publikacji :
Journal Article
MeSH Terms :
Policy Making*
Rare Diseases*
Delivery of Health Care ; Health Policy ; Humans ; Registries ; Slovenia
Czasopismo naukowe
Tytuł :
Implementation of EXABO - An Expert Advisory Board for the European Reference Network for Rare Respiratory Diseases.
Autorzy :
Walther D; Medical Informatics Group (MIG), Frankfurt, University Hospital, Theodor-Stern-Kai 7, 60590 Frankfurt, Germany.
Steinmann O; Frankfurt Reference Center for Rare Diseases (FRZSE), University Hospital Frankfurt, Theodor-Stern-Kai 7, 60590 Frankfurt, Germany.
Wagner TOF; Frankfurt Reference Center for Rare Diseases (FRZSE), University Hospital Frankfurt, Theodor-Stern-Kai 7, 60590 Frankfurt, Germany.
Storf H; Medical Informatics Group (MIG), Frankfurt, University Hospital, Theodor-Stern-Kai 7, 60590 Frankfurt, Germany.
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Źródło :
Studies in health technology and informatics [Stud Health Technol Inform] 2020 Jun 16; Vol. 270, pp. 986-990.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Rare Diseases*
Respiration Disorders*
Europe ; Humans
Czasopismo naukowe
Tytuł :
Patient and clinician opinions of patient reported outcome measures (PROMs) in the management of patients with rare diseases: a qualitative study.
Autorzy :
Aiyegbusi OL; Centre for Patient-Reported Outcomes Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK. .; Institute of Applied Health Research, University of Birmingham, Birmingham, UK. .; NIHR Birmingham Biomedical Research Centre, University Hospitals Birmingham NHS Foundation Trust and University of Birmingham, Birmingham, UK. .
Isa F; NHS England and NHS Improvement, Birmingham, UK.
Kyte D; Centre for Patient-Reported Outcomes Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.; Institute of Applied Health Research, University of Birmingham, Birmingham, UK.; NIHR Birmingham Biomedical Research Centre, University Hospitals Birmingham NHS Foundation Trust and University of Birmingham, Birmingham, UK.
Pankhurst T; Centre for Patient-Reported Outcomes Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.; University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital Birmingham, Birmingham, UK.
Kerecuk L; Centre for Patient-Reported Outcomes Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.; Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Ferguson J; Centre for Patient-Reported Outcomes Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.; NIHR Birmingham Biomedical Research Centre, University Hospitals Birmingham NHS Foundation Trust and University of Birmingham, Birmingham, UK.; University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital Birmingham, Birmingham, UK.
Lipkin G; Centre for Patient-Reported Outcomes Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.; University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital Birmingham, Birmingham, UK.
Calvert M; Centre for Patient-Reported Outcomes Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.; Institute of Applied Health Research, University of Birmingham, Birmingham, UK.; NIHR Birmingham Biomedical Research Centre, University Hospitals Birmingham NHS Foundation Trust and University of Birmingham, Birmingham, UK.
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Źródło :
Health and quality of life outcomes [Health Qual Life Outcomes] 2020 Jun 10; Vol. 18 (1), pp. 177. Date of Electronic Publication: 2020 Jun 10.
Typ publikacji :
Journal Article
MeSH Terms :
Patient Reported Outcome Measures*
Quality of Life*
Rare Diseases/*psychology
Female ; Focus Groups ; Humans ; Male ; Qualitative Research ; Rare Diseases/therapy
Czasopismo naukowe
Tytuł :
[Patient registries for rare diseases in Germany: concept paper of the NAMSE strategy group].
Autorzy :
Storf H; Medical Informatics Group (MIG), Universitätsklinikum Frankfurt, Haus 33C 2. OG, Theodor-Stern-Kai 7, 60590, Frankfurt am Main, Deutschland. .; Datenintegrationszentrum (DIZ), Dezernat 7 - Informations- und Kommunikationstechnologie (DICT), Universitätsklinikum Frankfurt, Frankfurt am Main, Deutschland. .
Stausberg J; Institut für Medizinische Informatik, Biometrie und Epidemiologie (IMIBE), Universitätsklinikum Essen, Essen, Deutschland.
Kindle G; Institut für Immundefizienz, Centrum für Chronische Immundefizienz (CCI), Universitätsklinikum Freiburg, Medizinische Fakultät, Universität Freiburg, Freiburg, Deutschland.; Zentrum für Biobanking, FREEZE-Biobank, Universitätsklinikum Freiburg, Medizinische Fakultät, Universität Freiburg, Freiburg, Deutschland.
Quadder B; Allianz Chronischer Seltener Erkrankungen ACHSE e. V., Berlin, Deutschland.; Deutsche Sarkoidose-Vereinigung e. V., Meerbusch, Deutschland.
Schlangen M; Geschäftsstelle des Nationalen Aktionsbündnisses für Menschen mit Seltenen Erkrankungen, Bonn, Deutschland.
Walter MC; Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München, München, Deutschland.
Ückert F; Medizinische Informatik in der Translationalen Onkologie, Deutsches Krebsforschungszentrum, Heidelberg, Deutschland.
Wagner TOF; Frankfurter Referenzzentrum für Seltene Erkrankungen (FRZSE), Universitätsklinikum Frankfurt, Frankfurt am Main, Deutschland.
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Transliterated Title :
Patientenregister für Seltene Erkrankungen in Deutschland: Konzeptpapier der Strategiegruppe „Register“ des Nationalen Aktionsbündnisses für Menschen mit Seltenen Erkrankungen (NAMSE).
Corporate Authors :
NAMSE-Register-Strategiegruppe
Źródło :
Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz [Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz] 2020 Jun; Vol. 63 (6), pp. 761-770.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Metadata*
Rare Diseases*
Confidentiality ; Germany ; Humans ; Registries
Czasopismo naukowe
Tytuł :
Social isolation and exclusion: the parents' experience of caring for children with rare neurodevelopmental disorders.
Autorzy :
Currie G; School of Nursing and Midwifery, Faculty of Health, Community and Education, Mount Royal University, Calgary, Alberta, Canada.
Szabo J; School of Nursing and Midwifery, Faculty of Health, Community and Education, Mount Royal University, Calgary, Alberta, Canada.
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Źródło :
International journal of qualitative studies on health and well-being [Int J Qual Stud Health Well-being] 2020 Dec; Vol. 15 (1), pp. 1725362.
Typ publikacji :
Journal Article
MeSH Terms :
Neurodevelopmental Disorders*
Rare Diseases*
Caregivers/*psychology
Parents/*psychology
Social Isolation/*psychology
Adult ; Canada/epidemiology ; Child ; Child Health Services/standards ; Delivery of Health Care/standards ; Female ; Humans ; Male ; Middle Aged ; Parent-Child Relations ; Social Stigma ; Social Support ; Stress, Psychological
Czasopismo naukowe
Tytuł :
[Rare diseases of the maxillary sinus].
Autorzy :
Hildenbrand T; Klinik für Hals‑, Nasen- und Ohrenheilkunde, Universitätsklinikum Freiburg, Killianstr. 5, 79106, Freiburg, Deutschland. .
Klein SB; Hals‑, Nasen- und Ohrenklinik, Universitätsklinikum Marburg, UKGM, Marburg, Deutschland.
Schramek N; Hals-Nasen-Ohrenklinik, Städtisches Klinikum Karlsruhe, Karlsruhe, Deutschland.
Weber RK; Hals-Nasen-Ohrenklinik, Städtisches Klinikum Karlsruhe, Karlsruhe, Deutschland.
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Transliterated Title :
Seltene Erkrankungen der Kieferhöhle.
Źródło :
HNO [HNO] 2020 Aug; Vol. 68 (8), pp. 581-589.
Typ publikacji :
Journal Article
MeSH Terms :
Maxillary Sinus*
Paranasal Sinus Diseases*/diagnosis
Rare Diseases*/diagnosis
Humans ; Retrospective Studies ; Tomography, X-Ray Computed
Czasopismo naukowe
Tytuł :
Undiagnosed and rare diseases: current challenges, perspectives and contribution of oral cavity examination.
Autorzy :
Martelli DRB; Oral Diagnosis, Dental School, State University of Montes Claros, UNIMONTES, Montes Claros, Minas Gerais, Brazil.
Martelli Júnior H; Oral Diagnosis, Dental School, State University of Montes Claros, UNIMONTES, Montes Claros, Minas Gerais, Brazil; Center for Rehabilitation of Craniofacial Anomalies, Dental School, University of Alfenas, Minas Gerais, Brazil.
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Źródło :
Oral surgery, oral medicine, oral pathology and oral radiology [Oral Surg Oral Med Oral Pathol Oral Radiol] 2020 Aug; Vol. 130 (2), pp. 227-228. Date of Electronic Publication: 2020 May 31.
Typ publikacji :
Letter; Comment
MeSH Terms :
Precision Medicine*
Rare Diseases*
Diagnosis, Oral ; Humans ; Mouth
Opinia redakcyjna

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