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RMD Open

Alberto Sulli, Rosaria Talarico, Carlo Alberto Scirè, Tadej Avcin, Marco Castori, Alessandro Ferraris, Charissa Frank, Jürgen Grunert, Sabrina Paolino, Stefano Bombardieri, Matthias Schneider, Vanessa Smith, Maurizio Cutolo, Marta Mosca, Fransiska Malfait
Objective: To report the effort of the European Reference Network for Rare and Complex CONnective tissue and musculoskeletal diseases NETwork working group on Ehlers-Danlos syndromes (EDS) and related disorders to assess current available clinical practice guidelines (CPGs) specifically addressed to EDS, in order to identify potential clinician and patient unmet needs. Methods: Systematic literature search in PUBMED and EMBASE based on controlled terms (MeSH and Emtree) and keywords of the disease and publication type (CPGs)...
2018: RMD Open
Vasco C Romão, Rosaria Talarico, Carlo Alberto Scirè, Ana Vieira, Tobias Alexander, Chiara Baldini, Jacques-Eric Gottenberg, Heidi Gruner, Eric Hachulla, Luc Mouthon, Martina Orlandi, Cristina Pamfil, Marc Pineton de Chambrun, Marco Taglietti, Natasa Toplak, Paul van Daele, Jacob M van Laar, Stefano Bombardieri, Matthias Schneider, Vanessa Smith, Maurizio Cutolo, Marta Mosca, Xavier Mariette
Sjögren's syndrome (SS) is a complex autoimmune rheumatic disease that specifically targets salivary and lachrymal glands. As such, patients typically had ocular and oral dryness and salivary gland swelling. Moreover, skin, nasal and vaginal dryness are frequently present. In addition to dryness, musculoskeletal pain and fatigue are the hallmarks of this disease and constitute the classic symptom triad presented by the vast majority of patients. Up to 30% to 50 % of patients with SS may present systemic disease; moreover, there is an increased risk for the development of non-Hodgkin's lymphoma that occurs in a minority of patients...
2018: RMD Open
Simona Rednic, Laura Damian, Rosaria Talarico, Carlo Alberto Scirè, Alexander Tobias, Nathalie Costedoat-Chalumeau, David Launay, Alexis Mathian, Lisa Mattews, Cristina Ponte, Paola Toniati, Stefano Bombardieri, Charissa Frank, Matthias Schneider, Vanessa Smith, Maurizio Cutolo, Marta Mosca, Laurent Arnaud
Due to the rarity of relapsing polychondritis (RP), many unmet needs remain in the management of RP. Here, we present a systematic review of clinical practice guidelines (CPGs) published for RP, as well as a list of the most striking unmet needs for this rare disease. We carried out a systematic search in PubMed and Embase based on controlled terms (medical subject headings and Emtree) and keywords of the disease and publication type (CPGs). The systematic literature review identified 20 citations, among which no CPGs could be identified...
2018: RMD Open
Marteen Limper, Carlo Alberto Scirè, Rosaria Talarico, Zahir Amoura, Tadej Avcin, Martina Basile, Gerd Burmester, Linda Carli, Ricard Cervera, Nathalie Costedoat-Chalumeau, Andrea Doria, Thomas Dörner, João Eurico Fonseca, Ilaria Galetti, Eric Hachulla, David Launay, Filipa Lourenco, Carla Macieira, Pierluigi Meroni, Carlo Maurizio Montecucco, Maria Francisca Moraes-Fontes, Luc Mouthon, Cecilia Nalli, Veronique Ramoni, Maria Tektonidou, Jacob M van Laar, Stefano Bombardieri, Matthias Schneider, Vanessa Smith, Ana Vieira, Maurizio Cutolo, Marta Mosca, Angela Tincani
Antiphospholipid syndrome (APS) is a rare disease characterised by venous and/or arterial thrombosis, pregnancy complications and the presence of specific autoantibodies called antiphospholipid antibodies. This review aims to identify existing clinical practice guidelines (CPG) as part of the ERN ReCONNET project, aimed at evaluating existing CPGs or recommendations in rare and complex diseases. Seventeen papers providing important data were identified; however, the literature search highlighted the scarceness of reliable clinical data to develop CPGs...
2018: RMD Open
Chaigne Benjamin, Scirè Carlo Alberto, Talarico Rosaria, Alexander Tobias, Amoura Zahir, Avcin Tadej, Beretta Lorenzo, Doria Andrea, Guffroy Aurelien, Guimarães Vera, Hachulla Éric, Krieg Thomas, Launay David, Lepri Gemma, Moinzadeh Pia, Müller-Ladner Ulf, Rednic Simona, Rodrigues Ana, Tas Sander W, van Vollenhoven R F, Vieira Ana, Bombardieri Stefano, Fonseca João Eurico, Galetti Ilaria, Schneider Matthias, Smith Vanessa, Cutolo Maurizio, Mosca Marta, Fischer-Betz Rebecca
Mixed connective tissue disease (MCTD) is a complex overlap disease with features of different autoimmune connective tissue diseases (CTDs) namely systemic sclerosis, poly/dermatomyositis and systemic lupus erythematous in patients with antibodies targeting the U1 small nuclear ribonucleoprotein particle. In this narrative review, we summarise the results of a systematic literature research which was performed as part of the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases project, aimed at evaluating existing clinical practice guidelines (CPGs) or recommendations...
2018: RMD Open
Vanessa Smith, Carlo Alberto Scirè, Rosaria Talarico, Paolo Airo, Tobias Alexander, Yannick Allanore, Cosimo Bruni, Veronica Codullo, Virgil Dalm, Jeska De Vries-Bouwstra, Alessandra Della Rossa, Oliver Distler, Ilaria Galetti, David Launay, Gemma Lepri, Alexis Mathian, Luc Mouthon, Barbara Ruaro, Alberto Sulli, Angela Tincani, Els Vandecasteele, Amber Vanhaecke, Marie Vanthuyne, Frank Van den Hoogen, Ronald Van Vollenhoven, Alexandre E Voskuyl, Elisabetta Zanatta, Stefano Bombardieri, Gerd Burmester, Fonseca João Eurico, Charissa Frank, Eric Hachulla, Frederic Houssiau, Ulf Mueller-Ladner, Matthias Schneider, Jacob M van Laar, Ana Vieira, Maurizio Cutolo, Marta Mosca, Marco Matucci-Cerinic
Systemic sclerosis (SSc) is an orphan disease characterised by autoimmunity, fibrosis of the skin and internal organs, and vasculopathy. SSc may be associated with high morbidity and mortality. In this narrative review we summarise the results of a systematic literature research, which was performed as part of the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases project, aimed at evaluating existing clinical practice guidelines or recommendations. Only in the domains 'Vascular & Ulcers' (ie, non-pharmacological approach to digital ulcer), 'PAH' (ie, screening and treatment), 'Treatment' and 'Juveniles' (ie, evaluation of juveniles with Raynaud's phenomenon) evidence-based and consensus-based guidelines could be included...
2018: RMD Open
Ulf Lindström, Tor Olofsson, Sara Wedrén, Ilia Qirjazo, Johan Askling
Objectives: To assess the impact of extra-articular spondyloarthritis (SpA) manifestations (anterior uveitis, psoriasis and inflammatory bowel disease (IBD)), and of comorbidities, on tumour necrosis factor alpha inhibitor (TNFi) drug retention in ankylosing spondylitis (AS). Methods: We identified all bio-naïve patients with AS starting a first ever TNFi July 2006 to December 2015 from the Swedish Rheumatology Quality register and followed these from treatment start through December 2015...
2018: RMD Open
Kristiina Rajamäki, Salla Keskitalo, Mikko Seppänen, Outi Kuismin, Paula Vähäsalo, Luca Trotta, Antti Väänänen, Virpi Glumoff, Paula Keskitalo, Riitta Kaarteenaho, Airi Jartti, Nina Hautala, Päivi Jackson, Dan C Nordström, Janna Saarela, Timo Hautala, Kari K Eklund, Markku Varjosalo
Objectives: TNFAIP3 encodes A20 that negatively regulates nuclear factor kappa light chain enhancer of activated B cells (NF-κB), the major transcription factor coordinating inflammatory gene expression. TNFAIP3 polymorphisms have been linked with a spectrum of inflammatory and autoimmune diseases and, recently, loss-of-function mutations in A20 were found to cause a novel inflammatory disease 'haploinsufficiency of A20' (HA20). Here we describe a family with HA20 caused by a novel TNFAIP3 loss-of-function mutation and elucidate the upstream molecular mechanisms linking HA20 to dysregulation of NF-κB and the related inflammasome pathway...
2018: RMD Open
George E Fragoulis, Caron Paterson, Ashley Gilmour, Mohammad H Derakhshan, Iain B McInnes, Duncan Porter, Stefan Siebert
Objectives: To determine the frequency, severity and natural history of neutropaenia in early rheumatoid arthritis (RA), explore its associations with clinical features and assess its impact on clinical management. Methods: The Scottish Early Rheumatoid Arthritis inception cohort prospectively recruited patients with newly diagnosed RA and followed them up every 6 months. Patients with RA who developed at least one episode of neutropaenia (grade 1: <2.0×10^9/L; grade 2: <1...
2018: RMD Open
Féline P B Kroon, Loreto Carmona, Jan W Schoones, Margreet Kloppenburg
To update the evidence on efficacy and safety of non-pharmacological, pharmacological and surgical interventions for hand osteoarthritis (OA), a systematic literature review was performed up to June 2017, including (randomised) controlled trials or Cochrane systematic reviews. Main efficacy outcomes were pain, function and hand strength. Risk of bias was assessed. Meta-analysis was performed when advisable. Of 7036 records, 127 references were included, of which 50 studies concerned non-pharmacological, 64 pharmacological and 12 surgical interventions...
2018: RMD Open
Ruth Stoklund Thomsen, Tom Ivar Lund Nilsen, Glenn Haugeberg, Anja Bye, Arthur Kavanaugh, Mari Hoff
Background: Psoriatic arthritis (PsA) is associated with an accumulation of cardiovascular disease (CVD) risk factors. The aim of this study was to evaluate the effect of high-intensity interval training (HIIT) on CVD risk factors in patients with PsA. Methods: We randomly assigned 61 patients with PsA (41 women and 20 men) to an intervention group performing HIIT for 11 weeks or a control group who were instructed to not change their physical exercise habits. Outcomes were assessed at 3 and 9  months with measures on maximal oxygen uptake (VO2max ), fat percentage and Body Mass Index (BMI)...
2018: RMD Open
Felix Angst, Thomas Benz, Susanne Lehmann, André Aeschlimann, Jules Angst
Objective: To determine minimal clinically important differences (MCIDs) for improvement and worsening in various health dimensions in knee osteoarthritis under conservative therapy. Methods: Health, symptoms and function were assessed by the generic Short Form 36 and the condition-specific Western Ontario and McMaster Universities Osteoarthritis Index in n=190 patients with knee osteoarthritis before and after comprehensive rehabilitation intervention (3-month follow-up)...
2018: RMD Open
Eirik Ikdahl, Silvia Rollefstad, Grunde Wibetoe, Anne Salberg, Frode Krøll, Kjetil Bergsmark, Tore K Kvien, Inge C Olsen, Dag Magnar Soldal, Gunnstein Bakland, Åse Lexberg, Clara G Gjesdal, Christian Gulseth, Glenn Haugeberg, Anne Grete Semb
Objective: The European League Against Rheumatism recommends implementing cardiovascular disease (CVD) risk assessments for patients with inflammatory joint diseases (IJDs) into clinical practice. Our goal was to design a structured programme for CVD risk assessments to be implemented into routine rheumatology outpatient clinic visits. Methods: The NOrwegian Collaboration on Atherosclerosis in patients with Rheumatic joint diseases (NOCAR) started in April 2014 as a quality assurance project including 11 Norwegian rheumatology clinics...
2018: RMD Open
Rebecca M Joseph, David W Ray, Brian Keevil, Tjeerd P van Staa, William G Dixon
Background: Glucocorticoids (GCs) suppress endogenous cortisol levels which can lead to adrenal insufficiency (AI). The frequency of GC-induced AI remains unclear. In this cross-sectional study, low morning salivary cortisol (MSC) levels were used as a measure of adrenal function. The study aim was to investigate the prevalence of low MSC in patients with rheumatoid arthritis (RA) currently and formerly exposed to oral GCs, and the association with potential risk factors. Methods: Sample collection was nested within UK primary care electronic health records (from the Clinical Practice Research Datalink)...
2018: RMD Open
Louise Brøndt Hartlev, Rasmus Klose-Jensen, Jesper Skovhus Thomsen, Jens Randel Nyengaard, Lene Warner Thorup Boel, Mogens Berg Laursen, Trine Bay Laurberg, Andreas Wiggers Nielsen, Kristian Steengaard-Pedersen, Ellen-Margrethe Hauge
Objective: Bone formation is a hallmark of osteoarthritis (OA). It has been speculated that bone formation may occur because of ossification at the bone-cartilage unit, that is, bone formation directly involving the calcified cartilage (CC). This study aimed to investigate the thickness of the CC and subchondral bone (SCB) in relation to the severity of the overlying articular cartilage (AC) degeneration. Design: We investigated femoral heads from 20 patients with OA and 15 healthy subjects with design-based stereology using systematic uniform random sampling of the entire joint surface...
2018: RMD Open
Abhishek Abhishek, Annamaria Iagnocco, J W J Bijlsma, Michael Doherty, Frédéric Lioté
Objectives: To survey the undergraduate rheumatic and musculoskeletal diseases (RMDs) curriculum content in a sample of medical schools across Europe. Methods: The undergraduate musculoskeletal diseases and disability curriculum of University of Nottingham, UK, was used as a template to develop a questionnaire on curriculum content. The questionnaire elicited binary (yes/no) responses and included the option to provide additional information as free text. The survey was mailed to members of the European League Against Rheumatism (EULAR) School of Rheumatology (Undergraduate Classroom) and to EULAR Standing Committee on Education and Training members in January 2017, with a reminder in February 2017...
2018: RMD Open
Robin M Ten Brinck, Hanna W van Steenbergen, Annette H M van der Helm-van Mil
Introduction: Subclinical inflammation, detected by MRI, in patients with arthralgia is predictive for development of inflammatory arthritis (IA). However, within patients that develop IA, the course of inflammation at the joint level during this transition is unknown. This longitudinal study assessed progression of inflammation at the joint level. Methods: 350 joints (unilateral metacarpophalangeals (MCPs), wrist, metatarsophalangeal (MTP) joints) of 35 patients presenting with clinically suspect arthralgia (CSA) that progressed to IA were studied at presentation with CSA and subsequently when clinical synovitis was first identified at joint examination (median time interval 17 weeks)...
2018: RMD Open
Peter Nash, Frank Behrens, Ana-Maria Orbai, Suchitrita S Rathmann, David H Adams, Olivier Benichou, Atul Deodhar
Objective: To conduct subset analyses of SPIRIT-P2 (Standard Protocol Items: Recommendations for Interventional Trials, NCT02349295) to investigate the efficacy and safety of ixekizumab versus placebo in three subgroups of patients with active psoriatic arthritis (PsA) according to the concomitant conventional synthetic disease-modifying antirheumatic drug (cDMARD) received: any background cDMARDs (including methotrexate), background methotrexate only. Methods: Patients were randomised to receive placebo, ixekizumab 80 mg every 4 weeks (IXEQ4W) or every 2 weeks (IXEQ2W)...
2018: RMD Open
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