Now showing items 1-20 of 34

    • A Cross Section Of Autosomal Recessive Limb-Girdle Muscular Dystrophies In 38 Families 

      Dincer, P; Akcoren, Z; Demir, E; Richard, I; Sancak, O; Kale, G; Ozme, S; Karaduman, A; Tan, E; Urtizberea, JA; Beckmann, JS; Topaloglu, H (Bmj Publishing Group, 2000)
      Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis for the known loci ...
    • A Molecular And Clinical Study Of Larsen Syndrome Caused By Mutations In Flnb 

      Bicknell, Louise S.; Farrington-Rock, Claire; Shafeghati, Yousef; Rump, Patrick; Alanay, Yasemin; Alembik, Yves; Al-Madani, Navid; Firth, Helen; Karimi-Nejad, Mohammad Hassan; Kim, Chong Ae; Leask, Kathryn; Maisenbacher, Melissa; Moran, Ellen; Pappas, John G.; Prontera, Paolo; de Ravel, Thomy; Fryns, Jean-Pierre; Sweeney, Elizabeth; Fryer, Alan; Unger, Sheila; Wilson, L. C.; Lachman, Ralph S.; Rimoin, David L.; Cohn, Daniel H.; Krakow, Deborah; Robertson, Stephen P. (Bmj Publishing Group, 2007)
      Background: Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. Recently, Larsen syndrome was shown to be caused by missense mutations or ...
    • A Patient-Derived And Patient-Reported Outcome Measure For Assessing Psoriatic Arthritis: Elaboration And Preliminary Validation Of The Psoriatic Arthritis Impact Of Disease (Psaid) Questionnaire, A 13-Country Eular Initiative 

      Gossec, Laure; de Wit, Maarten; Kiltz, Uta; Braun, Juergen; Kalyoncu, Umut; Scrivo, Rossana; Maccarone, Mara; Carton, Laurence; Otsa, Kati; Sooaeaer, Imre; Heiberg, Turid; Bertheussen, Heidi; Canete, Juan D.; Lombarte, Anselm Sanchez; Balanescu, Andra; Dinte, Alina; de Vlam, Kurt; Smolen, Josef S.; Stamm, Tanja; Niedermayer, Dora; Bekes, Gabor; Veale, Douglas; Helliwell, Philip; Parkinson, Andrew; Luger, Thomas; Kvien, Tore K. (Bmj Publishing Group, 2014)
      Introduction The objective was to develop a questionnaire that can be used to calculate a score reflecting the impact of psoriatic arthritis (PsA) from the patients' perspective: the PsA Impact of Disease (PsAID) questionnaire. ...
    • A Preliminary Score For The Assessment Of Disease Activity In Hereditary Recurrent Fevers: Results From The Aidai (Auto-Inflammatory Diseases Activity Index) Consensus Conference 

      Piram, Maryam; Frenkel, Joost; Gattorno, Marco; Ozen, Seza; Lachmann, Helen J.; Goldbach-Mansky, Raphaela; Hentgen, Veronique; Neven, Benedicte; Stojanovic, Katia Stankovic; Simon, Anna; Kuemmerle-Deschner, Jasmin; Hoffman, Hal; Stojanov, Silvia; Duquesne, Agnes; Pillet, Pascal; Martini, Alberto; Pouchot, Jacques; Kone-Paut, Isabelle (Bmj Publishing Group, 2011)
      Background The systemic autoinflammatory disorders (SAID) share many clinical manifestations, albeit with variable patterns, intensity and frequency. A common definition of disease activity would be rational and useful in ...
    • Clinical Efficacy Of Beta-Lactam/Beta-Lactamase Inhibitor Combinations For The Treatment Of Bloodstream Infection Due To Extended-Spectrum Beta-Lactamase-Producing Enterobacteriaceae In Haematological Patients With Neutropaenia: A Study Protocol For A Retrospective Observational Study (Bicar) 

      Gudiol, C.; Royo-Cebrecos, C.; Tebe, C.; Abdala, E.; Akova, M.; Alvarez, R.; Maestro-de la Calle, G.; Cano, A.; Cervera, C.; Clemente, W. T.; Martin-Davila, P.; Freifeld, A.; Gomez, L.; Gottlieb, T.; Gurgui, M.; Herrera, F.; Manzur, A.; Maschmeyer, G.; Meije, Y.; Montejo, M.; Peghin, M.; Rodriguez-Bano, J.; Ruiz-Camps, I.; Sukiennik, T. C.; Carratala, J. (Bmj Publishing Group, 2017)
      Introduction Bloodstream infection (BSI) due to extended-spectrum -lactamase-producing Gram-negative bacilli (ESBL-GNB) is increasing at an alarming pace worldwide. Although -lactam/-lactamase inhibitor (BLBLI) combinations ...
    • Consensus Classification Criteria For Paediatric Behcet'S Disease From A Prospective Observational Cohort: Pedbd 

      Kone-Paut, Isabelle; Shahram, Fahrad; Darce-Bello, Martha; Cantarini, Luca; Cimaz, Rolando; Gattorno, Marco; Anton, Jordi; Hofer, Michael; Chkirate, Bouchra; Bouayed, Kenza; Tugal-Tutkun, Ilknur; Kuemmerle-Deschner, Jasmin; Agostini, Helene; Federici, Sylvia; Arnoux, Armelle; Piedvache, Celine; Ozen, Seza (Bmj Publishing Group, 2016)
      Background We aimed to describe the main features of Behcet's disease (BD) in children in the largest prospective cohort to date and to propose a classification. Methods An international expert consensus group was formed ...
    • Development Of The Autoinflammatory Disease Damage Index (Addi) 

      Ter Haar, Nienke M.; Annink, Kim V.; Al-Mayouf, Sulaiman M.; Amaryan, Gayane; Anton, Jordi; Barron, Karyl S.; Benseler, Susanne M.; Brogan, Paul A.; Cantarini, Luca; Cattalini, Marco; Cochino, Alexis-Virgil; De Benedetti, Fabrizio; Dedeoglu, Fatma; De Jesus, Adriana A.; Alberighi, Ornella Della Casa; Demirkaya, Erkan; Dolezalova, Pavla; Durrant, Karen L.; Fabio, Giovanna; Gallizzi, Romina; Goldbach-Mansky, Raphaela; Hachulla, Eric; Hentgen, Veronique; Herlin, Troels; Hofer, Michael; Hoffman, Hal M.; Insalaco, Antonella; Jansson, Annette F.; Kallinich, Tilmann; Kone-Paut, Isabelle; Kozlova, Anna; Kuemmerle-Deschner, Jasmin B.; Lachmann, Helen J.; Laxer, Ronald M.; Martini, Alberto; Nielsen, Susan; Nikishina, Irina; Ombrello, Amanda K.; Ozen, Seza; Papadopoulou-Alataki, Efimia; Quartier, Pierre; Rigante, Donato; Russo, Ricardo; Simon, Anna; Trachana, Maria; Uziel, Yosef; Ravelli, Angelo; Gattorno, Marco; Frenkel, Joost (Bmj Publishing Group, 2017)
      Objectives Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes ...
    • E148Q Is A Disease-Causing Mefv Mutation: A Phenotypic Evaluation In Patients With Familial Mediterranean Fever 

      Topaloglu, R; Ozaltin, F; Yilmaz, E; Ozen, Seza; Balci, B; Besbas, N; Bakkaloglu, A (Bmj Publishing Group, 2005)
      Background: Familial Mediterranean fever (FMF) is one of the periodic fever syndromes. It is common among Turks, Jews, Arabs, and Armenians. Several mutations in the MEFV gene, including E148Q, have been identified as ...
    • Erionite Bodies And Fibres In Bronchoalveolar Lavage Fluid (Balf) Of Residents From Tuzkoy, Cappadocia, Turkey 

      Dumortier, P; Coplu, L; Broucke, I; Emri, S; Selcuk, T; de Maertelaer, V; De Vuyst, P; Baris, I (Bmj Publishing Group, 2001)
      Objectives-The high incidence of malignant mesothelioma in some villages of Cappadocia (Turkey) is due to environmental exposure to erionite fibres. The aim was to evaluate the fibre burden in bronchoalveolar lavage fluid ...
    • Eular Evidence Based Recommendations For The Management Of Hand Osteoarthritis: Report Of A Task Force Of The Eular Standing Committee For International Clinical Studies Including Therapeutics (Escisit) 

      Zhang, W.; Doherty, M.; Leeb, B. F.; Alekseeva, L.; Arden, N. K.; Bijlsma, J. W.; Dincer, F.; Dziedzic, K.; Hauselmann, H. J.; Herrero-Beaumont, G.; Kaklamanis, P.; Lohmander, S.; Maheu, E.; Martin-Mola, E.; Pavelka, K.; Punzi, L.; Reiter, S.; Sautner, J.; Smolen, J.; Verbruggen, G.; Zimmermann-Gorska, I. (Bmj Publishing Group, 2007)
      Objectives: To develop evidence based recommendations for the management of hand osteoarthritis (OA). Methods: The multidisciplinary guideline development group comprised 16 rheumatologists, one physiatrist, one orthopaedic ...
    • Eular Evidence-Based Recommendations For The Diagnosis Of Hand Osteoarthritis: Report Of A Task Force Of Escisit 

      Zhang, W.; Doherty, M.; Leeb, B. F.; Alekseeva, L.; Arden, N. K.; Bijlsma, J. W.; Dincer, F.; Dziedzic, K.; Hauselmann, H. J.; Kaklamanis, P.; Kloppenburg, M.; Lohmander, L. S.; Maheu, E.; Martin-Mola, E.; Pavelka, K.; Punzi, L.; Reiter, S.; Smolen, J.; Verbruggen, G.; Watt, I.; Zimmermann-Gorska, I. (Bmj Publishing Group, 2009)
      Objectives: To develop evidence-based recommendations for the diagnosis of hand osteoarthritis (OA). Methods: The multidisciplinary guideline development group, representing 15 European countries, generated 10 key propositions ...
    • Eular Recommendations For The Management Of Familial Mediterranean Fever 

      Ozen, Seza; Demirkaya, Erkan; Erer, Burak; Livneh, Avi; Ben-Chetrit, Eldad; Giancane, Gabriella; Ozdogan, Huri; Abu, Illana; Gattorno, Marco; Hawkins, Philip N.; Yuce, Sezin; Kallinich, Tilmann; Bilginer, Yelda; Kastner, Daniel; Carmona, Loreto (Bmj Publishing Group, 2016)
      Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, but many rheumatologists are not well acquainted with its management. The objective of this report is to produce evidence-based ...
    • Eular Revised Recommendations For The Management Of Fibromyalgia 

      Macfarlane, G. J.; Kronisch, C.; Dean, L. E.; Atzeni, F.; Haeuser, W.; Fluss, E.; Choy, E.; Kosek, E.; Amris, K.; Branco, J.; Dincer, F.; Leino-Arjas, P.; Longley, K.; McCarthy, G. M.; Makri, S.; Perrot, S.; Sarzi-Puttini, P.; Taylor, A.; Jones, G. T. (Bmj Publishing Group, 2017)
      Objective The original European League Against Rheumatism recommendations for managing fibromyalgia assessed evidence up to 2005. The paucity of studies meant that most recommendations were ' expert opinion'. Methods A ...
    • Eular/Pres Standards And Recommendations For The Transitional Care Of Young People With Juvenile-Onset Rheumatic Diseases 

      Foster, Helen E.; Minden, Kirsten; Clemente, Daniel; Leon, Leticia; McDonagh, Janet E.; Kamphuis, Sylvia; Berggren, Karin; van Pelt, Philomine; Wouters, Carine; Waite-Jones, Jennifer; Tattersall, Rachel; Wyllie, Ruth; Stones, Simon R.; Martini, Alberto; Constantin, Tamas; Schalm, Susanne; Fidanci, Berna; Erer, Burak; Dermikaya, Erkan; Ozen, Seza; Carmona, Loreto (Bmj Publishing Group, 2017)
      To develop standards and recommendations for transitional care for young people (YP) with juvenile-onset rheumatic and musculoskeletal diseases (jRMD). The consensus process involved the following: (1) establishing an ...
    • Eular/Printo/Pres Criteria For Henoch-Schonlein Purpura, Childhood Polyarteritis Nodosa, Childhood Wegener Granulomatosis And Childhood Takayasu Arteritis: Ankara 2008. Part Ii: Final Classification Criteria 

      Ozen, Seza; Pistorio, Angela; Iusan, Silvia M.; Bakkaloglu, Aysin; Herlin, Troels; Brik, Riva; Buoncompagni, Antonella; Lazar, Calin; Bilge, Ilmay; Uziel, Yosef; Rigante, Donato; Cantarini, Luca; Hilario, Maria Odete; Silva, Clovis A.; Alegria, Mauricio; Norambuena, Ximena; Belot, Alexandre; Berkun, Yackov; Estrella, Amparo Ibanez; Olivieri, Alma Nunzia; Alpigiani, Maria Giannina; Rumba, Ingrida; Sztajnbok, Flavio; Tambic-Bukovac, Lana; Breda, Luciana; Al-Mayouf, Sulaiman; Mihaylova, Dimitrina; Chasnyk, Vyacheslav; Sengler, Claudia; Klein-Gitelman, Maria; Djeddi, Djamal; Nuno, Laura; Pruunsild, Chris; Brunner, Jurgen; Kondi, Anuela; Pagava, Karaman; Pederzoli, Silvia; Martini, Alberto; Ruperto, Nicolino (Bmj Publishing Group, 2010)
      Objectives To validate the previously proposed classification criteria for Henoch-Schonlein purpura (HSP), childhood polyarteritis nodosa (c-PAN), c-Wegener granulomatosis (c-WG) and c-Takayasu arteritis (c-TA). Methods ...
    • European Protocols For The Diagnosis And Initial Treatment Of Interstitial Lung Disease In Children 

      Bush, Andrew; Cunningham, Steve; De Blic, Jacques; Barbato, Angelo; Clement, Annick; Epaud, Ralph; Hengst, Meike; Kiper, Nural; Nicholson, Andrew G.; Wetzke, Martin; Snijders, Deborah; Schwerk, Nicolaus; Griese, Matthias (Bmj Publishing Group, 2015)
      Interstitial lung disease in children (chILD) is rare, and most centres will only see a few cases/year. There are numerous possible underlying diagnoses, with specific and non-specific treatment possibilities. The chILD-EU ...
    • Evidence-Based Recommendations For Genetic Diagnosis Of Familial Mediterranean Fever 

      Giancane, Gabriella; Ter Haar, Nienke M.; Wulffraat, Nico; Vastert, Sebastiaan J.; Barron, Karyl; Hentgen, Veronique; Kallinich, Tilmann; Ozdogan, Huri; Anton, Jordi; Brogan, Paul; Cantarini, Luca; Frenkel, Joost; Galeotti, Caroline; Gattorno, Marco; Grateau, Gilles; Hofer, Michael; Kone-Paut, Isabelle; Kuemmerle-Deschner, Jasmin; Lachmann, Helen J.; Simon, Anna; Demirkaya, Erkan; Feldman, Brian; Uziel, Yosef; Ozen, Seza (Bmj Publishing Group, 2015)
      Familial Mediterranean fever (FMF) is a disease of early onset which can lead to significant morbidity. In 2012, Single Hub and Access point for pediatric Rheumatology in Europe (SHARE) was launched with the aim of optimising ...
    • Gastrointestinal Involvement In Poems Syndrome: A Novel Clinical Manifestation 

      Dogan, S; Beyazit, Y; Shorbagi, A; Koklu, S; Ustunel, S; Guler, N; Uner, A (Bmj Publishing Group, 2005)
      POEMS syndrome ( polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes) is characterised by a rare multisystem disorder of unknown pathogenesis. Although its pathophysiology is not well ...
    • Giant Axonal Neuropathy: Clinical And Genetic Study In Six Cases 

      Demir, E; Bomont, P; Erdem, S; Cavalier, L; Demirci, M; Kose, G; Muftuoglu, S; Cakar, AN; Tan, E; Aysun, S; Topcu, M; Guicheney, P; Koenig, M; Topaloglu, H (Bmj Publishing Group, 2005)
      Background: Giant axonal neuropathy (GAN) is a severe recessive disorder characterised by variable combination of progressive sensory motor neuropathy, central nervous system (CNS) involvement, and "frizzly'' hair. The ...
    • Hereditary Brachydactyly Associated With Hypertension 

      BILGINTURAN, N; ZILELI, S; KARACADAG, S; PIRNAR, T (Bmj Publishing Group, 1973)