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cancer-associated myositis

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https://www.readbyqxmd.com/read/29149307/tumour-tif1-mutations-and-loss-of-heterozygosity-related-to-cancer-associated-myositis
#1
Iago Pinal-Fernandez, Berta Ferrer-Fabregas, Ernesto Trallero-Araguas, Eva Balada, Maria Angeles Martínez, Jose César Milisenda, Gloria Aparicio-Español, Moises Labrador-Horrillo, Vicente Garcia-Patos, Josep M Grau-Junyent, Albert Selva-O'Callaghan
Objectives: To analyse the influence of genetic alterations and differential expression of transcription intermediary factor 1 ( TIF1 ) genes in the pathophysiology of cancer-associated myositis (CAM). Methods: Paired blood and tumour DNA samples from patients with anti-TIF1γ-positive CAM and from controls were analysed by whole-exome sequencing for the presence of somatic mutations and loss of heterozygosity (LOH) in their TIF1 genes. The genesis and maintenance of the autoimmune process were investigated immunohistochemically by studying TIF1γ expression in the different tissues involved in CAM (skin, muscle and tumour) based on the immunohistochemical H-score...
November 14, 2017: Rheumatology
https://www.readbyqxmd.com/read/29024572/radiological-manifestations-of-immune-related-adverse-effects-observed-in-patients-with-melanoma-undergoing-immunotherapy
#2
Parveen Sidhu, Alexander M Menzies, Georgina Long, Matteo Carlino, Shirleen Lorens, Rony Kapoor
Immunotherapy drugs work by stimulating the patient's own immune system to recognize and destroy cancer cells. This subclass of drugs is increasingly administered to patients with advanced melanoma. They are also commonly incorporated into other cancer therapies such as non-small cell lung cancer, renal cancer, head and neck cancers and Hodgkin lymphoma. The most commonly administered immunotherapeutic agents in the treatment of melanoma include programmed cell death protein 1 (PD-1) inhibitors, cytotoxic T-lymphocyte antigen 4 (CTLA-4) inhibitors and a subclass of cytokines...
October 11, 2017: Journal of Medical Imaging and Radiation Oncology
https://www.readbyqxmd.com/read/28967485/first-line-pembrolizumab-in-cisplatin-ineligible-patients-with-locally-advanced-and-unresectable-or-metastatic-urothelial-cancer-keynote-052-a-multicentre-single-arm-phase-2-study
#3
Arjun V Balar, Daniel Castellano, Peter H O'Donnell, Petros Grivas, Jacqueline Vuky, Thomas Powles, Elizabeth R Plimack, Noah M Hahn, Ronald de Wit, Lei Pang, Mary J Savage, Rodolfo F Perini, Stephen M Keefe, Dean Bajorin, Joaquim Bellmunt
BACKGROUND: More than half of all patients with advanced urothelial cancer cannot receive standard, first-line cisplatin-based chemotherapy because of renal dysfunction, poor performance status, or other comorbidities. We assessed the activity and safety of first-line pembrolizumab in cisplatin-ineligible patients with locally advanced and unresectable or metastatic urothelial cancer. METHODS: In this multicentre, single-arm, phase 2 study (KEYNOTE-052), cisplatin-ineligible patients with advanced urothelial cancer who had not been previously treated with systemic chemotherapy were recruited from 91 academic medical centres in 20 countries...
September 26, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28957414/red-blood-cell-distribution-width-genetic-evidence-for-aging-pathways-in-116-666-volunteers
#4
Luke C Pilling, Janice L Atkins, Michael O Duff, Robin N Beaumont, Samuel E Jones, Jessica Tyrrell, Chia-Ling Kuo, Katherine S Ruth, Marcus A Tuke, Hanieh Yaghootkar, Andrew R Wood, Anna Murray, Michael N Weedon, Lorna W Harries, George A Kuchel, Luigi Ferrucci, Timothy M Frayling, David Melzer
INTRODUCTION: Variability in red blood cell volumes (distribution width, RDW) increases with age and is strongly predictive of mortality, incident coronary heart disease and cancer. We investigated inherited genetic variation associated with RDW in 116,666 UK Biobank human volunteers. RESULTS: A large proportion RDW is explained by genetic variants (29%), especially in the older group (60+ year olds, 33.8%, <50 year olds, 28.4%). RDW was associated with 194 independent genetic signals; 71 are known for conditions including autoimmune disease, certain cancers, BMI, Alzheimer's disease, longevity, age at menopause, bone density, myositis, Parkinson's disease, and age-related macular degeneration...
2017: PloS One
https://www.readbyqxmd.com/read/28871260/dermatomyositis-and-immune-mediated-necrotizing-myopathies-a-window-on-autoimmunity-and-cancer
#5
REVIEW
Audrey Aussy, Olivier Boyer, Nadège Cordel
Autoimmune myopathies (myositides) are strongly associated with malignancy. The link between myositis and cancer, originally noticed by Bohan and Peter in their classification in 1975 (1), has been evidenced by large population-based cohort studies and a recent meta-analysis. The numerous reports of cases in which the clinical course of myositis reflects that of cancer and the short delay between myositis and cancer onset support the notion that myositis may be an authentic paraneoplastic disorder. Thus, cancer-associated myositis raises the question of cancer as a cause rather than a consequence of autoimmunity...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28866745/mortality-and-prognostic-factors-in-idiopathic-inflammatory-myositis-a-retrospective-analysis-of-a-large-multicenter-cohort-of-spain
#6
Laura Nuño-Nuño, Beatriz Esther Joven, Patricia E Carreira, Valentina Maldonado-Romero, Carmen Larena-Grijalba, Irene Llorente Cubas, Eva Gloria Tomero, María Carmen Barbadillo-Mateos, Paloma García De la Peña Lefebvre, Lucía Ruiz-Gutiérrez, Juan Carlos López-Robledillo, Henry Moruno-Cruz, Ana Pérez, Tatiana Cobo-Ibáñez, Raquel Almodóvar González, Leticia Lojo, María Jesús García De Yébenes, Francisco Javier López-Longo
The present study was undertaken to assess mortality, causes of death, and associated prognostic factors in a large cohort of patients diagnosed with idiopathic inflammatory myositis (IIM) from Spain. A retrospective longitudinal study was carried out in 467 consecutive patients with IIM, identified from 12 medical centers. Patients were classified as primary polymyositis, primary dermatomyositis (DM), overlap myositis, cancer-associated myositis (CAM), and juvenile idiopathic inflammatory myopathies. A total of 113 deaths occurred (24%) after a median follow-up time of 9...
November 2017: Rheumatology International
https://www.readbyqxmd.com/read/28776361/first-report-of-anti-tif1%C3%AE-dermatomyositis-in-a-patient-with-myelodysplastic-syndrome
#7
B Palterer, G Vitiello, D Cammelli
Inflammatory myopathies as para-neoplastic phenomena were first described by Sterz in 1916. Recently, myositis specific autoantibodies were described in cancer-associated myositis. Anti-transcription intermediary factor 1 gamma (anti-TIF1γ) antibodies have been found in both young adults affected by juvenile dermatomyositis and in elderly patients with cancer-associated myositis. In this regard, we report herein the first case of anti-TIF1γ dermatomyositis secondary to a myelodysplastic syndrome.
August 3, 2017: Reumatismo
https://www.readbyqxmd.com/read/28742270/malignancy-screening-in-autoimmune-myositis-amongst-australian-rheumatologists
#8
Katherine Dutton, Muriel Soden
BACKGROUND: The international literature advocates for cancer screening in newly diagnosed patients with autoimmune myositis; however there is no widely-accepted consensus or guideline to outline the optimal cancer screening strategy and the evidence is currently insufficient to support any recommendation. AIMS: Our study aimed to establish the current trends in practice in malignancy screening in autoimmune myositis amongst Australian Rheumatologists. METHODS: All Rheumatologists who were full members of the Australian Rheumatology Association in 2016 (386) were invited to complete an online questionnaire...
July 25, 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28736272/rheumatic-paraneoplastic-syndromes-a-clinical-link-between-malignancy-and-autoimmunity
#9
Bernhard Manger, Georg Schett
Paraneoplastic syndromes are rare but can have enormous clinical impact on diagnosis and outcome of neoplastic diseases. The rheumatologist should be familiar with a few typical musculoskeletal manifestations of malignancies to be able to diagnose them early for a timely initiation of anti-tumour therapies. This review describes the characteristic features of various paraneoplastic arthritides and vasculitides, cancer-associated myositis, hypertrophic osteoarthropathy, and tumour-induced osteomalacia. In addition, the current knowledge about underlying pathomechanisms of these syndromes is discussed...
July 21, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28668260/-amyopathic-dermatomyositis-dm-with-anti-mda5-antibodies-associated-with-bullous-pemphigoid-sj%C3%A3-gren-syndrome-and-gastric-malt-lymphoma
#10
B Garcia, F Dabouz, L Pascal, M Gillard, P Modiano
BACKGROUND: The inflammatory myopathies are a heterogeneous group of muscle diseases and comprise polymyositis, dermatomyositis (DM), myopathies associated with cancers, necrotising myositis and inclusion body myositis. DM occasionally exhibits few or no muscular signs: i.e. hypomyopathic/amyopathic DM. Anti-MDA5 dermatomyositis (DM) is a rare form of dermatomyositis that is frequently amyopathic; the prognosis is linked mainly to pulmonary involvement. PATIENTS AND METHODS: A 69-year-old woman treated for mucosa-associated lymphoid tissue (MALT) gastric lymphoma was referred for a bullous eruption...
October 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28653032/paraneoplastic-antigens-as-biomarkers-for-early-diagnosis-of-ovarian-cancer
#11
REVIEW
Madhumita Chatterjee, Laura C Hurley, Michael A Tainsky
Paraneoplastic syndromes are a group of rare disorders that can be triggered by an abnormal immune response to proteins from tumors of the lung, ovary, lymphatics, or breast. Paraneoplastic clinical syndromes affect < 1% of patients with cancer; however, the frequency of subclinical levels of paraneoplastic autoantibodies in asymptomatic patients with cancer is unknown. Numerous studies have reported that ovarian cancer patients show signs of paraneoplastic neurological syndromes (PNSs) before or after their cancers are diagnosed...
August 2017: Gynecologic Oncology Reports
https://www.readbyqxmd.com/read/28628466/evaluation-of-cancer-associated-myositis-and-scleroderma-autoantibodies-in-breast-cancer-patients-without-rheumatic-disease
#12
Ami A Shah, Antony Rosen, Laura K Hummers, Betty J May, Alpana Kaushiva, Richard B S Roden, Deborah K Armstrong, Fredrick M Wigley, Livia Casciola-Rosen, Kala Visvanathan
OBJECTIVES: Systemic sclerosis (scleroderma) and dermatomyositis are two prototypic autoimmune diseases that are strongly associated with malignancy. While specific autoantibodies in these diseases are markers of an increased risk of cancer at scleroderma and dermatomyositis onset, it is not known whether these autoantibodies are biomarkers of cancer risk in patients without rheumatic disease. METHODS: In a matched case-control study of women without rheumatic disease, identified from a familial breast cancer cohort, 50 breast cancer cases and 50 controls were assayed for 3 autoantibodies that are known markers of cancer-associated scleroderma and dermatomyositis: anti-RNA polymerase III, anti-NXP2, and anti-TIF1γ...
June 19, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28405474/rheumatic-immune-related-adverse-events-of-checkpoint-therapy-for-cancer-case-series-of-a-new-nosological-entity
#13
C Calabrese, E Kirchner, K Kontzias, V Velcheti, L H Calabrese
Immunotherapy of cancer with checkpoint inhibitors has been associated with a spectrum of autoimmune and systemic inflammatory reactions known as immune-related adverse events (irAEs). Rheumatic irAEs are infrequently reported and extensively described. Here, we report our experience over an 18-month period with 15 patients evaluated in the rheumatology department for rheumatic irAEs. We identified 13 patients without pre-existing autoimmune disease (AID) who subsequently developed rheumatic irAEs, and two with established AID referred pre-emptively...
2017: RMD Open
https://www.readbyqxmd.com/read/28339994/a-longitudinal-cohort-study-of-the-anti-synthetase-syndrome-increased-severity-of-interstitial-lung-disease-in-black-patients-and-patients-with-anti-pl7-and-anti-pl12-autoantibodies
#14
Iago Pinal-Fernandez, Maria Casal-Dominguez, Julio A Huapaya, Jemima Albayda, Julie J Paik, Cheilonda Johnson, Leann Silhan, Lisa Christopher-Stine, Andrew L Mammen, Sonye K Danoff
Objective.: The aim was to study the prevalence, rate of appearance and severity of clinical features in patients with different anti-synthetase syndrome (ASyS) autoantibodies. Methods.: All Johns Hopkins Myositis Longitudinal Cohort subjects positive for any ASyS autoantibodies were included. Clinical information, including symptoms, signs, strength, creatine kinase concentrations and pulmonary function tests, were prospectively collected. The standardized mortality and cancer rates and the rate of appearance and intensity of the different organ manifestations were assessed using univariate and multivariate analysis and compared between ASyS autoantibodies...
June 1, 2017: Rheumatology
https://www.readbyqxmd.com/read/28292255/subcutaneous-igg-in-the-myositis-spectrum-disorders
#15
Maria Giovanna Danieli, Chiara Gelardi, Veronica Pedini, Francesco Logullo, Armando Gabrielli
The efficacy of subcutaneous immunoglobulin is reported in several neurological disorders and, more recently, its use has been extended to other inflammatory diseases, such as the idiopathic inflammatory myopathies, including polymyositis and dermatomyositis. Due to the rarity of these disorders, the role of immunoglobulin, administered intravenously or subcutaneously, remains unclear and poorly investigated. We report our experience about the use of subcutaneous immunoglobulin in myositis spectrum disorders, from idiopathic inflammatory myopathies to more complex conditions, such as overlap and cancer-associated myositis or pregnancy...
March 14, 2017: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/28109638/myasthenia-triggered-by-immune-checkpoint-inhibitors-new-case-and-literature-review
#16
Natalia L Gonzalez, Araya Puwanant, Angela Lu, Stanley M Marks, Saša A Živković
Immune checkpoint molecules are potent regulators of immunologic homeostasis that prevent the development of autoimmunity while maintaining self-tolerance. Inhibitors of immune checkpoint molecules are used as immunotherapy in the treatment of melanoma and different types of refractory cancer, and can trigger various autoimmune complications including myositis and myasthenia gravis. We describe a case of generalized myasthenia gravis induced by pembrolizumab and review 11 other cases. Five patients also had elevated serum CK levels ranging from 1200 to 8729 IU/L, and biopsy showed myositis in one...
March 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28096458/more-severe-disease-and-slower-recovery-in-younger-patients-with-anti-3-hydroxy-3-methylglutaryl-coenzyme-a-reductase-associated-autoimmune-myopathy
#17
Eleni Tiniakou, Iago Pinal-Fernandez, Thomas E Lloyd, Jemima Albayda, Julie Paik, Jessie L Werner, Cassie A Parks, Livia Casciola-Rosen, Lisa Christopher-Stine, Andrew L Mammen
Objective.: To study disease severity and response to therapy in a large cohort of patients with anti-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR)-associated myositis. Methods.: Muscle strength, creatine kinase levels and treatments were assessed in anti-HMGCR-positive patients at each clinical visit. Univariate and multivariate analyses were used to analyse the influence of clinical characteristics on strength and the change in strength over time. Whole exome sequencing was performed in a subset of patients...
May 1, 2017: Rheumatology
https://www.readbyqxmd.com/read/28045754/anti-nxp2-positive-paraneoplastic-dermatomyositis-with-histopathologic-changes-confined-to-the-acrosyringia
#18
Jose Luis Ramírez-Bellver, Elena Macías, Claudia Bernárdez, Joaquín López-Robles, Maria Del Carmen Vegas-Sánchez, Jose Luis Díaz-Recuero, Hernán Quiceno, Luis Requena
BACKGROUND: Paraneoplastic syndromes consist of a group of disorders that are not related to the extension of the primary tumor or its metastases and that might be the first manifestation of a hidden neoplasm. It is a well-known association between dermatomyositis (DM) and cancer, especially gynecological tumors in women and lung cancer in men. METHODS: We describe the case of a 67-year-old male who developed muscular weakness and pruritic skin lesions. Skin biopsies were performed and histologic findings were consistent with DM...
January 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27806233/fulminant-myocarditis-with-combination-immune-checkpoint-blockade
#19
Douglas B Johnson, Justin M Balko, Margaret L Compton, Spyridon Chalkias, Joshua Gorham, Yaomin Xu, Mellissa Hicks, Igor Puzanov, Matthew R Alexander, Tyler L Bloomer, Jason R Becker, David A Slosky, Elizabeth J Phillips, Mark A Pilkinton, Laura Craig-Owens, Nina Kola, Gregory Plautz, Daniel S Reshef, Jonathan S Deutsch, Raquel P Deering, Benjamin A Olenchock, Andrew H Lichtman, Dan M Roden, Christine E Seidman, Igor J Koralnik, Jonathan G Seidman, Robert D Hoffman, Janis M Taube, Luis A Diaz, Robert A Anders, Jeffrey A Sosman, Javid J Moslehi
Immune checkpoint inhibitors have improved clinical outcomes associated with numerous cancers, but high-grade, immune-related adverse events can occur, particularly with combination immunotherapy. We report the cases of two patients with melanoma in whom fatal myocarditis developed after treatment with ipilimumab and nivolumab. In both patients, there was development of myositis with rhabdomyolysis, early progressive and refractory cardiac electrical instability, and myocarditis with a robust presence of T-cell and macrophage infiltrates...
November 3, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/27793724/sensitivity-analysis-of-gene-ranking-methods-in-phenotype-prediction
#20
Enrique J deAndrés-Galiana, Juan L Fernández-Martínez, Stephen T Sonis
INTRODUCTION: It has become clear that noise generated during the assay and analytical processes has the ability to disrupt accurate interpretation of genomic studies. Not only does such noise impact the scientific validity and costs of studies, but when assessed in the context of clinically translatable indications such as phenotype prediction, it can lead to inaccurate conclusions that could ultimately impact patients. We applied a sequence of ranking methods to damp noise associated with microarray outputs, and then tested the utility of the approach in three disease indications using publically available datasets...
December 2016: Journal of Biomedical Informatics
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