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Mixed connective tissue disease

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https://www.readbyqxmd.com/read/29672805/musculoskeletal-manifestations-of-non-ra-connective-tissue-diseases-scleroderma-systemic-lupus-erythematosus-still-s-disease-dermatomyositis-polymyositis-sj%C3%A3-gren-s-syndrome-and-mixed-connective-tissue-disease
#1
Thibaut Jacques, Iwona Sudoł-Szopińska, Neal Larkman, Phil O'Connor, Anne Cotten
The most common systemic rheumatologic conditions are connective tissue diseases (including rheumatoid arthritis [RA]) followed by spondyloarthropathy. With the advent of biotherapies and imaging biomarkers, development in the imaging of RA and spondyloarthropathies has received substantial attention in the literature. This article details the various musculoskeletal imaging features of the other connective tissue diseases such as scleroderma and progressive systemic sclerosis, systemic lupus erythematosus, Still's disease, dermatomyositis and polymyositis, Sjögren's syndrome, and mixed connective tissue disease...
April 2018: Seminars in Musculoskeletal Radiology
https://www.readbyqxmd.com/read/29624816/myocarditis-in-a-girl-with-mixed-connective-tissue-disease
#2
Masahiro Fukushima, Takeshi Shiba, Shinichiro Yoshimura, Hiraku Doi, Mitsuhiko Nambu
No abstract text is available yet for this article.
April 6, 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29606859/-ppargamma-2-and-adrb3-polymorphisms-in-connective-tissue-diseases-and-lipid-disorders
#3
Bogna Grygiel-Górniak, Iwona Ziółkowska-Suchanek, Elżbieta Kaczmarek, Maria Mosor, Jerzy Nowak, Mariusz Puszczewicz
Background: The aim of the research genetic study was to investigate the association between variants (C1431T and Pro12Ala) of the peroxisome proliferator-activated receptor ( PPARgamma-2 ) gene, Trp64Arg polymorphism of the beta-3-adrenergic receptor gene and lipid profile in Polish population including group of 103 patients with connective tissue disease (CTD) and 103 sex-and age-matched controls in context of statin use. Methods: Anthropometric and biochemical parameters were measured by routine methods, followed by genotyping (TagMan® Genotyping Assays, PCR-restriction fragment length polymorphism analysis)...
2018: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/29526634/solid-phase-assays-versus-automated-indirect-immunofluorescence-for-detection-of-antinuclear-antibodies
#4
REVIEW
Jolien Claessens, Thibaut Belmondo, Ellen De Langhe, Rene Westhovens, Koen Poesen, Sophie Hüe, Daniel Blockmans, Michael Mahler, Marvin J Fritzler, Xavier Bossuyt
Solid phase assays (SPAs) and automated microscope systems are increasingly used to screen for antinuclear antibodies (ANAs). The goal of this study was to evaluate the performance of three automated ANA screening assays; NOVA Lite HEp-2 using NOVA View® (NV, Inova Diagnostics), an automated indirect immunofluorescence method, EliA™ CTD Screen (Fluorescence Enzyme Immunoassay, FEIA; Thermo Fisher) and QUANTA Flash® CTD Screen Plus (Chemiluminescence immunoassay, CIA; Inova Diagnostics). The assays were performed on 480 diagnostic samples from patients with an ANA-associated rheumatic disease (AARD; systemic lupus erythematosus, primary Sjögren's syndrome, systemic sclerosis, inflammatory myopathy, mixed connective tissue disease) and on 767 samples from diseased and healthy controls...
March 8, 2018: Autoimmunity Reviews
https://www.readbyqxmd.com/read/29515069/-mixed-connective-tissue-disease-with-pulmonary-hypertension-developing-in-a-chronic-myeloid-leukemia-patient-on-dasatinib-treatment
#5
Shintaro Watanuki, Taku Kikuchi, Takaaki Toyama, Ryohei Abe, Hitomi Nakayama, Daiki Karigane, Takayuki Shimizu, Jun Kikuchi, Kotaro Matsumoto, Hidetaka Yasuoka, Masaharu Kataoka, Shinichiro Okamoto, Takehiko Mori
A 37-year-old woman was diagnosed with chronic phase chronic myeloid leukemia. Nilotinib treatment was initiated; however, it had to be discontinued due to an allergic reaction one month later, and dasatinib treatment was provided. Although favorable response was obtained, she started complaining of shortness of breath 7 months after initiating dasatinib treatment. Chest X-ray and echocardiography indicated pulmonary congestion and hypertension. Further, she was diagnosed with mixed connective tissue disease (MCTD) based on Raynaud phenomenon, swollen fingers, sclerodactyly, pancytopenia, hypocomplementemia, and positive anti-U1-RNP antibody...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29507032/following-leads-connecting-dysphagia-to-mixed-connective-tissue-disease
#6
Rita de Sousa Gameiro, Ana Isabel Alves Reis, Ana Cristina Grilo, Carla Noronha
Mixed connective tissue disease (MCDT) is a rare condition characterised by the presence of high titres of anti-U1 ribonucleoprotein antibodies and selected clinical features of systemic lupus erythematosus, systemic sclerosis and polymyositis/dermatomyositis. Early symptoms are non-specific, including easy fatigability, myalgia, arthralgia and Raynaud's phenomenon. Some reports emphasised the favourable outcome and excellent response to glucocorticoids, but there are contradictory studies reporting worse prognosis...
March 5, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29490304/association-between-rheumatoid-arthritis-and-pulmonary-hypertension-data-from-the-french-pulmonary-hypertension-registry
#7
David Montani, Julien Henry, Caroline O'Connell, Xavier Jaïs, Vincent Cottin, David Launay, Gilbert Habib, Arnaud Bourdin, Mitja Jevnikar, Laurent Savale, Laurence Rottat, Gérald Simonneau, Olivier Sitbon, Marc Humbert, Yannick Allanore
BACKGROUND: Precapillary pulmonary hypertension (PH), and particularly pulmonary arterial hypertension (PAH), is a life-threatening complication of connective tissue diseases (systemic sclerosis, systemic lupus erythematosus, and mixed connective tissue disease). The relationship between PH and rheumatoid arthritis (RA) has not been clearly established. OBJECTIVES: The aim of the study was to evaluate the relationship between precapillary PH and RA. METHODS: We identified patients with PH and suspected RA included in the French PH Registry between 1 May 2004 and 31 December 2012 and evaluated the prevalence of confirmed RA in this population...
2018: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/29479391/massive-hemorrhagic-pericardial-effusion-with-cardiac-tamponade-as-initial-manifestation-of-mixed-connective-tissue-disease
#8
Ashraf Abugroun, Osama Hallak, Fatima Ahmed, Safwan Gaznabi
Mixed connective tissue disease (MCTD) is a distinct entity of connective tissue disorders characterized by overlapping clinical features of various autoimmune diseases along with the presence of antibodies to ribonucleoprotein (anti-RNP). The prevalence of cardiac involvement in MCTD varies from 13% to 65% and accounts for approximately 20% of MCTD related mortality. In this case, we describe an elderly female patient with multiple complaints without a clear etiology on presentation. Echocardiogram revealed severe rapidly accumulating pericardial effusion causing tamponade necessitating pericardial window...
February 2018: Cardiology Research
https://www.readbyqxmd.com/read/29474209/pulmonary-phenotypes-associated-with-genetic-variation-in-telomere-related-genes
#9
Thijs W Hoffman, Coline H M van Moorsel, Raphael Borie, Bruno Crestani
PURPOSE OF REVIEW: Genomic mutations in telomere-related genes have been recognized as a cause of familial forms of idiopathic pulmonary fibrosis (IPF). However, it has become increasingly clear that telomere syndromes and telomere shortening are associated with various types of pulmonary disease. Additionally, it was found that also single nucleotide polymorphisms (SNPs) in telomere-related genes are risk factors for the development of pulmonary disease. This review focuses on recent updates on pulmonary phenotypes associated with genetic variation in telomere-related genes...
February 21, 2018: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/29413506/pulmonary-arterial-hypertension-in-the-setting-of-scleroderma-is-different-than-in-the-setting-of-lupus-a-review
#10
REVIEW
Isabel S Bazan, Kofi A Mensah, Anastasiia A Rudkovskaia, Percy K Adonteng-Boateng, Erica L Herzog, Lenore Buckley, Wassim H Fares
Pulmonary hypertension (PH) is a clinical syndrome that is subdivided into five groups per the World Health Organization (WHO) classification, based largely on hemodynamic and pathophysiologic criteria. WHO Group 1 PH, termed pulmonary arterial hypertension (PAH), is a clinically progressive disease that can eventually lead to right heart failure and death, and it is hemodynamically characterized by pre-capillary PH and increased pulmonary vascular resistance in the absence of elevated left ventricular filling pressures...
January 2018: Respiratory Medicine
https://www.readbyqxmd.com/read/29369534/autoimmunity-in-uveitis
#11
Josianne C Ten Berge, Marco W J Schreurs, Paul L A van Daele, Aniki Rothova
PURPOSE: Recent insights into the pathogenesis of immune-mediated diseases proposed a new classification, which includes autoimmune and auto-inflammatory diseases. The prevalence of specific autoimmune and auto-inflammatory diseases in uveitis and/or scleritis is not yet known. In this study, we examine the presence of systemic immune-mediated diseases in patients with uveitis and/or scleritis and put a special emphasis on autoimmune disorders by reporting on their clinical manifestations and visual prognosis...
January 25, 2018: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29364249/simultaneous-distinction-of-monospecific-and-mixed-dfs70-patterns-during-ana-screening-with-a-novel-hep-2-elite-dfs70-knockout-substrate
#12
Kishore S Malyavantham, Lakshmanan Suresh
Systemic autoimmune connective tissue disorders are characterized by circulating antinuclear antibodies (ANA). Although there are several technologies available for ANA screening, indirect immunofluorescence (IIF) using Human epithelial cells-2 (HEp-2) substrate remains the primary and recommended method because of its superior sensitivity. HEp-2 substrates can detect a multitude of patterns resulting from autoantibody binding to various protein and nucleic acid autoantigens distributed throughout the nucleus and cytoplasm of the cells...
January 17, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29356883/evaluation-of-itgb2-cd18-and-sell-cd62l-genes-expression-and-methylation-of-itgb2-promoter-region-in-patients-with-systemic-sclerosis
#13
Navid Dashti, Mahdi Mahmoudi, Farhad Gharibdoost, Hoda Kavosi, Ramazan Rezaei, Vahideh Imeni, Ahmadreza Jamshidi, Saeed Aslani, Shayan Mostafaei, Mohammad Vodjgani
Systemic sclerosis (SSc), an autoimmune disease of connective tissue, is characterized by inflammation, fibrosis, and vessel endothelial damage. Products of Integrin subunit beta 2 (ITGB2) and selectin L (SELL) genes participate in several functional pathways of immune system. The aim of this investigation was to survey the transcript level of ITGB2 and SELL genes as well as methylation status of CpG sites in promoter region of differently expressed gene in PBMCs of SSc patients. PBMCs were isolated from whole blood of 50 SSc patients and 30 healthy controls...
March 2018: Rheumatology International
https://www.readbyqxmd.com/read/29353024/outcomes-and-mortality-prediction-model-of-critically-ill-adults-with-acute-respiratory-failure-and-interstitial-lung-disease
#14
Whitney D Gannon, David J Lederer, Mauer Biscotti, Azka Javaid, Nina M Patel, Daniel Brodie, Matthew Bacchetta, Matthew R Baldwin
BACKGROUND: We aimed to examine short- and long-term mortality in a mixed population of patients with interstitial lung disease (ILD) with acute respiratory failure, and to identify those at lower vs higher risk of in-hospital death. METHODS: We conducted a single-center retrospective cohort study of 126 consecutive adults with ILD admitted to an ICU for respiratory failure at a tertiary care hospital between 2010 and 2014 and who did not undergo lung transplantation during their hospitalization...
January 17, 2018: Chest
https://www.readbyqxmd.com/read/29306915/screening-for-connective-tissue-disease-associated-antibodies-by-automated-immunoassay
#15
Philippe Willems, Ellen De Langhe, Jolien Claessens, René Westhovens, Erna Van Hoeyveld, Koen Poesen, Steven Vanderschueren, Daniel Blockmans, Xavier Bossuyt
BACKGROUND: Antinuclear antibodies (ANAs) are useful for the diagnosis of ANA-associated systemic rheumatic disease (AASRD). The objective of this study was the evaluation of an immunoassay that detects antibodies to a mixture of 17 antigens as an alternative to indirect immunofluorescence (IIF). METHODS: Nine thousand eight hundred and fifty-six consecutive patients tested for ANAs were tested by IIF and EliA connective tissue disease screen (Thermo-Fisher). Medical records were reviewed for 2475 patients, including all patients that tested positive/equivocal by either test and a selection of 500 patients that tested negative...
January 8, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29275576/-clinical-features-of-acute-diffuse-pulmonary-exudative-disorders
#16
L Y Mi, C J Ban, Y Liu, N Bao, B Sun, M Zhu, Y H Ren, H P Dai
Objective: To analyze the clinical features of acute diffuse pulmonary exudative disorders. Methods: The data were collected from patients who were hospitalized in respiratory intensive care unit (RICU) of Beijing Chaoyang Hospital affiliated to the Capital Medical University during January 2009 to December 2011, and had acute clinical course with imaging findings of diffuse pulmonary infiltrated shadows (similar to acute respiratory distress syndrome (ARDS)). The causes of disease and clinical features were analyzed...
November 28, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29237099/calcium-channel-blockers-for-primary-and-secondary-raynaud-s-phenomenon
#17
REVIEW
Fadumo Rirash, Paul C Tingey, Sarah E Harding, Lara J Maxwell, Elizabeth Tanjong Ghogomu, George A Wells, Peter Tugwell, Janet Pope
BACKGROUND: Raynaud's phenomenon is a vasospastic disease characterized by digital pallor, cyanosis, and extremity pain. Primary Raynaud's phenomenon is not associated with underlying disease, but secondary Raynaud's phenomenon is associated with connective tissue disorders such as systemic sclerosis, systemic lupus erythematosus, and mixed connective tissue disease. Calcium channel blockers promote vasodilation and are commonly used when drug treatment for Raynaud's phenomenon is required...
December 13, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29199167/which-diseases-are-risk-factors-for-developing-gastroesophageal-reflux-disease
#18
Filiz Akyüz, Özlem Mutluay Soyer
Although the pathophysiology of gastroesophageal reflux disease (GERD) remains unclear, it is accepted as a multifactorial disease. It is thought that some of the interventions that might cause alterations in the normal gastrointestinal tract anatomy and diseases that affect the lower esophageal sphincter, esophageal clearance, and stomach motility (gastric emptying) might lay a foundation for GERD development. Moreover, it is common knowledge that GERD might cause various extraesophageal symptoms and complications...
December 2017: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
https://www.readbyqxmd.com/read/29072657/-the-influence-of-biological-compatibility-of-the-cyanoacrylate-glue-on-regeneration-of-the-cartilaginous-tissue
#19
F V Semenov, N F Skibitskaya
The objective of the present study was to evaluate the possibility of the application of the cyanoacrylate-based glue for the strengthening of the reconstructed elements of the middle ear and its influence on the regeneration of the cartilaginous tissue. We used the cartilaginous tissue from the auricles of the male California rabbits as a model. The cartilage was destroyed in a standard press. Half of the cartilage thus fragmented was implanted into the left auricle. The remaining part was mixed up with the cyanoacrylate glue and implanted into the right auricle of the same animal...
2017: Vestnik Otorinolaringologii
https://www.readbyqxmd.com/read/29054902/chylous-ascites-in-a-patient-with-an-overlap-syndrome-a-surprising-response-to-rituximab
#20
Alexandra Daniel, Gianluca Bagnato, Edward Vital, Francesco Del Galdo
The authors present a case of a 51-year-old woman with clinical diagnosis of mixed connective tissue disease and overlap systemic lupus erythematosus features, with a 6-month history of progressive painless abdominal distension. On examination, evident signs of ascites were present. Both the abdominal-pelvic ultrasound and CT scan confirmed a large amount of ascites. A diagnostic paracentesis was performed, which revealed typical features of chylous ascites (CA). An extensive diagnostic work-up led by a multidisciplinary team was performed, excluding malignancy, cirrhosis, infectious, as well as cardiac and primary lymphatic causes...
October 20, 2017: BMJ Case Reports
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