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Mixed connective tissue disease

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https://www.readbyqxmd.com/read/29892541/lymphocytic-interstitial-pneumonia-in-a-patient-with-mixed-connective-tissue-disease-a-case-report
#1
Chin-Wei Kuo, Kung-Chao Chang, Han-Yu Chang, Tang-Hsiu Huang
Lymphocytic interstitial pneumonia (LIP) is an uncommon interstitial lung disease that is characterized by an interstitial infiltrate of lymphoplasmacytic cells. While idiopathic LIP appears to be extremely rare, most reported cases of LIP have been associated with coexisting immune derangements, particularly autoimmune diseases such as Sjögren's syndrome. In this report, we describe the presentation of LIP in a patient with underlying mixed connective tissue disease.
2018: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/29891110/antinuclear-antibodies-and-cancer-a-literature-review
#2
REVIEW
Alexandru Vlagea, Sandra Falagan, Gerardo Gutiérrez-Gutiérrez, Juan Moreno-Rubio, María Merino, Francisco Zambrana, Enrique Casado, María Sereno
Antinuclear antibodies (ANAs) are a spectrum of autoantibodies targeted to various nuclear and cytoplasmic components of the cells. They are very useful as serological markers for different autoimmune disease, like systemic lupus erythematosus (SLE), Sjögren's syndrome (SS), scleroderma, polymyositis, or mixed connective tissue disease. In these years, an increasing attention has been focussed in the relationship between tumours and autoimmunity. Different authors have demonstrated that ANAs are presented, not only in autoimmune diseases, also in serum of patients with different types of cancers...
July 2018: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/29857950/hrct-findings-of-collagen-vascular-disease-related-interstitial-pneumonia-cvd-ip-a-comparative-study-among-individual-underlying-diseases
#3
N Tanaka, Y Kunihiro, M Kubo, R Kawano, K Oishi, K Ueda, T Gondo
AIM: To identify characteristic high-resolution computed tomography (CT) findings for individual collagen vascular disease (CVD)-related interstitial pneumonias (IPs). MATERIALS AND METHODS: The HRCT findings of 187 patients with CVD, including 55 patients with rheumatoid arthritis (RA), 50 with systemic sclerosis (SSc), 46 with polymyositis/dermatomyositis (PM/DM), 15 with mixed connective tissue disease, 11 with primary Sjögren's syndrome, and 10 with systemic lupus erythematosus, were evaluated...
May 29, 2018: Clinical Radiology
https://www.readbyqxmd.com/read/29848537/superior-sagittal-sinus-thrombosis-in-a-case-of-mixed-connective-tissue-disease
#4
Preet Mukesh Shah, Vijay Waman Dhakre, Anand Bhabhor, Abhijeet Prasad
No abstract text is available yet for this article.
May 30, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29847817/bamboo-nodes-of-vocal-folds-a-description-of-10-cases-and-review-of-the-literature
#5
Jelena Todic, Valérie Schweizer, Igor Leuchter
OBJECTIVE: Bamboo nodes are vocal fold lesions, mostly associated with autoimmune diseases. PATIENTS AND METHODS: This is a retrospective clinical study including 10 patients with bamboo nodes. Data were collected regarding associated autoimmune disorder and type of treatment. A systematic review of the literature was conducted. RESULTS: All patients were women, with hoarseness as the most frequent symptom. There was in most cases an associated autoimmune disease: 3 patients with systemic lupus erythematosus; 3 with rheumatoid arthritis; 1 with Sjögren syndrome; 1 with Hashimoto disease; and 1 with mixed connective tissue disease...
May 30, 2018: Folia Phoniatrica et Logopaedica
https://www.readbyqxmd.com/read/29796907/the-impact-of-anti-u1-rnp-positivity-systemic-lupus-erythematosus-versus-mixed-connective-tissue-disease
#6
REVIEW
Alina Dima, Ciprian Jurcut, Cristian Baicus
Anti-U1-RNP positivity remains mandatory for the mixed connective tissue disease (MCTD) diagnosis, reason for which anti-U1-RNP occurrence in patients with lupus clinical features might determine diagnostic issues. Thus, the prevalence of 25-30% for anti-RNP was reported in John Hopkins and LUMINA lupus cohorts and also 13% prevalence for the anti-U1-RNP in Euro-Lupus cohort. Presence of anti-U1-RNP antibodies in patients fulfilling SLE criteria (but not the MCTD ones) was associated with manifestations such as Raynaud phenomenon, musculoskeletal and lung impairment or nail fold capillaroscopy changes, some clinical features frequently encountered in MCTD patients and only rarely described in lupus population...
May 23, 2018: Rheumatology International
https://www.readbyqxmd.com/read/29774953/dermoscopic-patterns-of-filiform-papillae-of-the-tongue-in-patients-with-and-without-connective-tissue-autoimmune-diseases
#7
José Manuel Díaz-González, María E Vega-Memije, Adalberto Mosqueda-Taylor, Víctor Noé García-Edgar, Juan Carlos Cuevas-González
BACKGROUND: Connective tissue autoimmune diseases (CTADs) constitute a group of conditions, including rheumatoid arthritis; systemic lupus erythematosus; mixed connective tissue disease; calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (CREST) syndrome; scleroderma; dermatomyositis; and Sjögren syndrome. There are few studies on the alterations in filiform papillae in CTAD. Thus, the objective of this work was to determine whether there are changes in the macroscopic and dermoscopic patterns of filiform papillae...
May 18, 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29762936/bentall%C3%A2-s-procedure-in-pediatric-mixed-connective-tissue-disease-syndrome-management-of-pediatric-aortic-aneurysm-a-brief-review
#8
Krithika Ramaprabhu, Om Prakash, Noveen Davidson, Sanjay Bhalero, Satish Radhakrishnan, Robert Coelho
Mixed connective tissue disease (MCTD) syndrome in children may lead to large aortic aneurysms, which in turn pose a difficult surgical problem. Valve-sparing root replacement is not always a viable option as the disease process invariably affects the aortic valve leaflets. Among pediatric patients, the Ross procedure is contraindicated on account of weakness of the pulmonary root, while Bentall surgery is the 'gold standard' treatment of aortic aneurysm, with reproducible and excellent long-term results. The case is presented of a three-year-old girl with a large thoracic aortic aneurysm in whom Bentall's surgery was performed, with a good result...
September 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/29752328/soft-tissue-sarcoma-version-2-2018-nccn-clinical-practice-guidelines-in-oncology
#9
Margaret von Mehren, R Lor Randall, Robert S Benjamin, Sarah Boles, Marilyn M Bui, Kristen N Ganjoo, Suzanne George, Ricardo J Gonzalez, Martin J Heslin, John M Kane, Vicki Keedy, Edward Kim, Henry Koon, Joel Mayerson, Martin McCarter, Sean V McGarry, Christian Meyer, Zachary S Morris, Richard J O'Donnell, Alberto S Pappo, I Benjamin Paz, Ivy A Petersen, John D Pfeifer, Richard F Riedel, Bernice Ruo, Scott Schuetze, William D Tap, Jeffrey D Wayne, Mary Anne Bergman, Jillian L Scavone
Soft tissue sarcomas (STS) are rare solid tumors of mesenchymal cell origin that display a heterogenous mix of clinical and pathologic characteristics. STS can develop from fat, muscle, nerves, blood vessels, and other connective tissues. The evaluation and treatment of patients with STS requires a multidisciplinary team with demonstrated expertise in the management of these tumors. The complete NCCN Guidelines for STS provide recommendations for the diagnosis, evaluation, and treatment of extremity/superficial trunk/head and neck STS, as well as intra-abdominal/retroperitoneal STS, gastrointestinal stromal tumors, desmoid tumors, and rhabdomyosarcoma...
May 2018: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/29745875/interstitial-lung-disease-in-patients-with-mixed-connective-tissue-disease-pilot-study-on-predictors-of-lung-involvement
#10
Neha Narula, Tathagat Narula, Isabel Mira-Avendano, Benjamin Wang, Andy Abril
OBJECTIVES: Mixed connective tissue disease (MCTD) is an immune-mediated systemic disorder characterised by serum autoantibodies against U1-ribonucleoprotein and diverse multisystemic clinical manifestations. Approximately 50% of patients with MCTD develop a radiologic pattern of interstitial lung disease (ILD). Our single centre, cross-sectional study sought to identify clinical and serologic associations of ILD in patients with MCTD which may serve as predictors of lung disease and prognosis...
May 8, 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29740582/anti-high-density-lipoprotein-antibodies-and-antioxidant-dysfunction-in-immune-driven-diseases
#11
Javier Rodríguez-Carrio, Lourdes Mozo, Patricia López, Elena Nikiphorou, Ana Suárez
Introduction: Impaired high-density lipoprotein (HDL) levels and antioxidant functionality of HDL, mainly attributed to a decreased paraoxonase-1 (PON1) functionality, have been described in autoimmune conditions. In this setting, a role for humoral response in cardiovascular disease is emerging. This study evaluates the role of immunoglobulin G (IgG) antibodies against HDL and disease-related autoantibodies on HDL dysfunction in immune-driven diseases. Methods: Serum IgG anti-HDL antibodies, PON1 activity, and total antioxidant capacity (TAC) were quantified in 381 patients with different immune-driven diseases [18 mixed connective tissue disease (MCTD), 35 primary Sjögren syndrome (pSS), 38 systemic sclerosis (SSc), 33 ANCA-associated vasculitis (AAV), 60 diabetes mellitus 1, 29 autoimmune B12 deficiency/pernicious anemia, 29 primary biliary cirrhosis, 46 IBD/Crohn, 54 IBD/UC, and 39 celiac disease (CD)] and 138 healthy controls...
2018: Frontiers in Medicine
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
#12
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
#13
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
#14
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
#15
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...
June 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
#16
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
#17
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
#18
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
#19
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
#20
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...
May 2018: Current Opinion in Pulmonary Medicine
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