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https://www.readbyqxmd.com/read/28624931/familial-mediterranean-fever-review-of-the-literature
#1
Mansour Alghamdi
Familial Mediterranean fever (FMF) is the most common monogenic periodic fever syndrome and characterized by recurrent episodes of fever, serositis, arthritis, dermal manifestations, and long-term renal complications. The MEFV gene was described in 1997 as the gene responsible for FMF and is inherited in autosomal recessive manner. It encodes mutated protein pyrin, an important player in the innate immune system and the component of inflammasome which leads to exaggerated inflammatory response through uncontrolled production of interleukin-1...
June 18, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28589388/-efficacy-and-safety-analysis-of-off-label-treatment-with-biologics-in-autoinflammatory-diseases-experiences-from-a%C3%A2-german-registry%C3%A2-graid2
#2
F Proft, M Fleck, C Fiehn, H Schulze-Koops, M Witt, T Dörner, J C Henes
OBJECTIVE: To evaluate the safety and efficacy of therapy with biologics in patients with autoinflammatory diseases (AIF) or macrophage activating syndrome (MAS) in a real-life setting in Germany. METHODS: The German Register of Autoimmune Diseases 2 (GRAID2) is a retrospective, non-interventional, multicenter registry collecting data from all patients with inflammatory rheumatic diseases refractory to conventional therapy and treated with initial off-label biologics between August 2006 and December 2013...
June 6, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28588486/potential-of-il-1-il-18-and-inflammasome-inhibition-for-the-treatment-of-inflammatory-skin-diseases
#3
REVIEW
Gabriele Fenini, Emmanuel Contassot, Lars E French
In 2002, intracellular protein complexes known as the inflammasomes were discovered and were shown to have a crucial role in the sensing of intracellular pathogen- and danger-associated molecular patterns (PAMPs and DAMPs). Activation of the inflammasomes results in the processing and subsequent secretion of the pro-inflammatory cytokines IL-1β and IL-18. Several autoinflammatory disorders such as cryopyrin-associated periodic syndromes and Familial Mediterranean Fever have been associated with mutations of genes encoding inflammasome components...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28586272/pharmacological-treatment-options-for-cryopyrin-associated-periodic-syndromes
#4
Emmanuelle C Landmann, Ulrich A Walker
Cryopyrin-associated periodic syndromes (CAPS) are rare monogenic autoinflammatory diseases, comprising a spectrum of phenotypes of varying severity. CAPS are associated with gain-of-function mutations in the NLRP3 inflammasome, a multiprotein complex critical for the activation of IL-1ß, and are characterized by episodes of fever, urticaria-like rash, musculoskeletal, ocular, and neurological symptoms. Areas covered: Accounting for the pivotal role of IL-1ß in the pathogenesis of CAPS, three therapeutic options, all blocking the action of IL-1ß, are currently approved: anakinra, a recombinant IL-1 receptor antagonist, the IL-1 trap rilonacept and canakinumab, a monoclonal anti-IL-1ß antibody...
June 20, 2017: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/28585601/canakinumab-treatment-in-four-children-with-colchicine-resistant-familial-mediterranean-fever
#5
Solmaz Ozkan, Bulent Atas
Familial Mediterranean Fever (FMF) is an autosomal recessive and autoinflammatory disease, characterized with inflammation of serous membranes such as peritoneum, pleura, synovium with fever and pain. Colchicine is the main treatment of FMF, but 5-10 % of patients are unresponsive to colchicine. We report using anti-interleukin-1 agents anakinra and canakinumab in four colchicine-resistant patients who were successfully treated. Three of the patients were siblings.
June 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28541296/autoinflammation-canakinumab-effective-in-hids-treatment
#6
Dario Ummarino
No abstract text is available yet for this article.
July 2017: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/28516876/multiple-testing-in-the-canakinumab-in-atherosclerosis-trial-correction-required
#7
Gul Guzelant, Zeki Ongen
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April 27, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28499329/biologic-therapy-modifies-clinical-and-laboratory-features-of-macrophage-activation-syndrome-associated-with-systemic-juvenile-idiopathic-arthritis
#8
Grant S Schulert, Francesca Minoia, John Bohnsack, Randy Q Cron, Soah Hashad, Isabelle Kone-Paut, Mikhail Kostik, Daniel Lovell, Despoina Maritsi, Peter A Nigrovic, Priyankar Pal, Angelo Ravelli, Masaki Shimizu, Valda Stanevicha, Sebastiaan Vastert, Andreas Woerner, Fabrizio de Benedetti, Alexei A Grom
OBJECTIVE: To assess performance of the 2016 macrophage activation syndrome (MAS) classification criteria for patients with systemic juvenile idiopathic arthritis (systemic JIA) who develop MAS while treated with biologic medications. METHODS: A systematic literature review was performed to identify patients with MAS while treated with IL-1 and IL-6 blocking agents. Clinical and laboratory information was compared to a large previously compiled historical cohort...
May 12, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/28482144/open-label-phase-ii-study-to-assess-efficacy-and-safety-of-canakinumab-treatment-in-active-hyperimmunoglobulinemia-d-with-periodic-fever-syndrome
#9
Juan I Arostegui, Jordi Anton, Inmaculada Calvo, Angel Robles, Estibaliz Iglesias, Berta López-Montesinos, Romain Banchereau, Seunghee Hong, Yolandi Joubert, Guido Junge, Virginia Pascual, Jordi Yagüe
OBJECTIVE: To evaluate the efficacy and safety of canakinumab treatment in active hyperimmunoglobulinemia D with periodic fever syndrome (HIDS). METHODS: This was a 3-part, open-label study with a 6-month treatment period (P1; 300 mg or 4 mg/kg q6w), a 6-month withdrawal period (P2), and a 24-month treatment period (P3). The primary endpoint was reduction in frequency of attacks during treatment period compared with the historical period (HP; period in which patients did not receive drugs other than NSAIDs and/or steroids)...
May 8, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28482054/safety-of-vaccinations-in-patients-with-cryopyrin-associated-periodic-syndromes-a-prospective-registry-based-study
#10
Veronika K Jaeger, Hal M Hoffman, Tom van der Poll, Hugh Tilson, Julia Seibert, Antonio Speziale, Guido Junge, Kristina Franke, Eleni Vritzali, Philip N Hawkins, Jasmin Kuemmerle-Deschner, Ulrich A Walker
Objectives.: Pneumococcal, tetanus and influenza vaccinations are recommended for patients with cryopyrin-associated periodic syndromes (CAPS) when treated with immunosuppressive medication. The aim of this publication is to report the safety of pneumococcal and other vaccinations in CAPS patients. Methods.: All CAPS patients followed in the β-CONFIDENT (Clinical Outcomes and Safety Registry study of Ilaris patients) registry were analysed if they had received a vaccination...
May 6, 2017: Rheumatology
https://www.readbyqxmd.com/read/28454496/canakinumab-for-the-treatment-of-tnf-receptor-associated-periodic-syndrome
#11
F La Torre, M C Caparello, R Cimaz
TNF-receptor-associated periodic syndrome is an autoinflammatory disorder caused by mutations in TNF receptor superfamily 1A gene. The molecular pathogenesis of TRAPS remains unclear; it is known that a key role is played by mutations in TNFRSF1A that induce the hypersecretion of pro-inflammatory cytokines as well as IL-1β, resulting in uncontrolled inflammatory reactions. Furthermore, TNFRSF1A gene mutations result in intracellular stress ultimately leading to increased production of interleukin-1β, but the exact mechanism referred to in the connection between TNFRSF1A mutation and increased release of IL-1β, is still under study...
June 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28418334/juvenile-idiopathic-arthritis
#12
Kenan Barut, Amra Adrovic, Sezgin Şahin, Özgür Kasapçopur
Juvenile idiopathic arthritis is the most common chronic rheumatic disease of unknown aetiology in childhood and predominantly presents with peripheral arthritis. The disease is divided into several subgroups, according to demographic characteristics, clinical features, treatment modalities and disease prognosis. Systemic juvenile idiopathic arthritis, which is one of the most frequent disease subtypes, is characterized by recurrent fever and rash. Oligoarticular juvenile idiopathic arthritis, common among young female patients, is usually accompanied by anti-nuclear antibodie positivity and anterior uveitis...
April 5, 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/28371574/tofacitinib-suppresses-disease-activity-and-febrile-attacks-in-a-patient-with-coexisting-rheumatoid-arthritis-and-familial-mediterranean-fever
#13
Kevser Gök, Gizem Cengiz, Kemal Erol, Salih Ozgocmen
Familial Mediterranean fever (FMF) is the most common hereditary auto-inflammatory (periodic fever) syndrome, and usually successfully treated with colchicine. However, nearly 5-10% of FMF cases are resistant or intolerant to colchicine and treatment options are highly restricted in these cases. Biologics including anakinra, canakinumab, rilonacept, etanercept, infliximab, interferon-alpha, and tocilizumab are shown to have efficacy to control FMF attacks. Tofacitinib, a Janus kinase (JAK) inhibitor, is an orally administered non-biologic disease modifying anti-rheumatic drug for the treatment of rheumatoid arthritis (RA)...
January 2017: Acta Reumatológica Portuguesa
https://www.readbyqxmd.com/read/28362189/canakinumab-for-the-treatment-of-familial-mediterranean-fever
#14
Huri Ozdogan, Serdal Ugurlu
Familial Mediterranean fever (FMF) is the most frequent of all hereditary autoinflammatory syndromes. It is characterized by recurrent attacks of fever and serositis. If not treated it may be complicated with AA amyloidosis. It is caused by mutations in the MEFV gene that encodes pyrin which is involved in the regulation of IL-1β. The mainstay of treatment is colchicine, however a subset of patients requires an alternative treatment either due to inadequate response or intolerance. The accumulating data indicates that anti IL-1 drugs are effective in treating colchicine resistant FMF cases and improving their quality of life...
April 10, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28296211/deleterious-effects-of-non-synonymous-single-nucleotide-variants-of-human-il-1%C3%AE-gene
#15
Yue-Hui Zhang, Jia Song, Jing Zhang, Jiang Shao
The IL-1β gene is currently topic of interest for its important role in the pathogenesis of intervertebral disk degeneration. The new sequencing technology makes it crucial to study the effects of variants in IL-1β. Thus, 714 IL-1β variants with evidence supporting were collected from the EMBL database. Among them, 62 were non-synonymous single nucleotide variants (nsSNVs). Furthermore, six common nsSNVs were predicted to have damaging effects by SIFT, PolyPhen, PROVEAN and SNPs&GO. Based on the constructed three-dimensional structure of pro-IL-1β, rs375479974 with a mutation of Phe to Ser was proposed to reduce the stability of the pro-IL-1β protein...
March 15, 2017: Chemical Biology & Drug Design
https://www.readbyqxmd.com/read/28288653/inflammatory-bowel-disease-following-anti-interleukin-1-treatment-in-systemic-juvenile-idiopathic-arthritis
#16
Boris Hügle, Fabian Speth, Johannes-Peter Haas
BACKGROUND: Inflammatory bowel disease can develop in the context of some rheumatic diseases in childhood, including juvenile idiopathic arthritis (JIA). Inflammatory bowel disease (IBD) is frequently associated with other immune-mediated diseases; however, systemic onset JIA (sJIA) has not previously been connected to IBD. Treatment of sJIA has significantly changed in recent years, possibly causing changes in inflammatory patterns. Therefore, data from the German Center for Pediatric and Adolescent Rheumtology from 2010 until 2015 were analyzed by retrospective chart review...
March 14, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28266235/canakinumab-for-first-line-steroid-free-treatment-in-a-child-with-systemic-onset-juvenile-idiopathic-arthritis
#17
G Horneff, J Peitz, J Kekow, D Foell
No abstract text is available yet for this article.
March 7, 2017: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/28261211/targeting-the-monocyte-macrophage-lineage-in-solid-organ-transplantation
#18
REVIEW
Thierry P P van den Bosch, Nynke M Kannegieter, Dennis A Hesselink, Carla C Baan, Ajda T Rowshani
There is an unmet clinical need for immunotherapeutic strategies that specifically target the active immune cells participating in the process of rejection after solid organ transplantation. The monocyte-macrophage cell lineage is increasingly recognized as a major player in acute and chronic allograft immunopathology. The dominant presence of cells of this lineage in rejecting allograft tissue is associated with worse graft function and survival. Monocytes and macrophages contribute to alloimmunity via diverse pathways: antigen processing and presentation, costimulation, pro-inflammatory cytokine production, and tissue repair...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28191908/il-1%C3%AE-induces-thymic-stromal-lymphopoietin-and-an-atopic-dermatitis-like-phenotype-in-reconstructed-healthy-human-epidermis
#19
Marine Bernard, Cédric Carrasco, Léo Laoubi, Béatrice Guiraud, Aurore Rozières, Catherine Goujon, Hélène Duplan, Sandrine Bessou-Touya, Jean-François Nicolas, Marc Vocanson, Marie-Florence Galliano
Atopic dermatitis (AD) is a common skin inflammatory disease characterized by the production of thymic stromal lymphopoietin (TSLP) and marked TH 2 polarization. Recent studies suggest that IL-1β contributes to the development of AD skin inflammation. Here, we have investigated the impact of IL-1β signalling on the epidermal homeostasis of both healthy subjects and AD patients [with functional filaggrin (FLG) alleles], with particular attention to TSLP production and keratinocyte differentiation. In healthy reconstructed human epidermis (RHE), IL-1β promoted (i) robust secretion of TSLP in an NF-κB-dependent manner and (ii) a significant decrease in the expression of filaggrin and other proteins of the epidermal differentiation complex...
June 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28140549/treatment-options-for-pyoderma-gangrenosum
#20
REVIEW
Sven R Quist, Luise Kraas
Pyoderma gangrenosum (PG) is an orphan disease. While research on such disorders is based on only few randomized multicenter as well as retrospective studies, most of the data comes from case series of small patient groups. Apart from topical and intralesional therapeutic options for early stages and mild disease courses, treatment predominantly involves systemic therapeutic agents. Besides systemic corticosteroids and cyclosporine A (CsA), options also include intravenous immunoglobulins (IVIG) and biologics such as the TNFα inhibitors infliximab, adalimumab, and etanercept; the interleukin (IL) 12/23 antibody ustekinumab; the IL-1 receptor antagonist anakinra; and the IL-1β antibody canakinumab...
January 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
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