Mixed connective tissue disease (MCTD)

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Interstitial Lung Disease in Mixed Connective Tissue Disease

Interstitial Lung Disease in Mixed Connective Tissue Disease

Asbtract Interstitial lung diseases (ILD) are known as a debilitating pulmonary complications that may be occured in almost all systemic connective tissue diseases (CTD), including mixed connective tissue disease (MCTD). ILD is usually found in more than half of MCTD patients after 2-4 years after the diagnosis made. A-47-years-old female initially diagnosed as systemic lupus erythematosus (SLE) developed a severe progressive dyspnea. She has recently diagnosed as MCTD with ILD after 9 months of initial symptoms. She was giving with Cyclophosphamide 500 mg IV pulse dose. However, after 1 months she developed severe pneumonia and pronounced demise due to intractable septic shock. The debilitating course of ILD is commonly seen in most systemic CTD. Therefore, it is important to perform initial screening and prevention. Systemic corticosteroid with or without immunosupressor agent(s) are indicated in ILD-MCTD. Patients with progressive diseases will have poor prognosis.
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First report of cardiac tamponade in pediatric onset mixed connective tissue disease

First report of cardiac tamponade in pediatric onset mixed connective tissue disease

ABSTRACT Mixed Connective Tissue Disease (MCTD) is rela- tively rare in children and typically presents with constitutional symptoms, rash, Raynaud’s phenome- non, and musculoskeletal symptoms. Cardiac in- volvement is an infrequent complication of MCTD usually occurring in the form of pericarditis without tamponade physiology. However, we present a case of a 10-year-old, previously healthy, African American male who developed pericarditis and tamponade as an initial manifestation of MCTD. One month prior to diagnosis, the child was hospitalized for fevers, knee pain and knee swelling. Arthrocentesis revealed leukocytosis yet no laboratory evidence of an infec- tious etiology. He was discharged on naproxen with a presumptive diagnosis of post-infectious arthritis.
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Microvascular damage a marker of specific organ involvement in mixed connective tissue disease?

Microvascular damage a marker of specific organ involvement in mixed connective tissue disease?

Pulmonary arterial hypertension and interstitial lung disease are among the leading causes of mortality in mixed connective tissue disease. Khanna et al. [22] recom mended that patients with MCTD and other scleroderma-like diseases should be screened for PAH due to high risk of PAH in these patients. Early detection and identification of patients without symptoms is cru- cial to delaying progression of the disease.

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Mixed connective tissue disease presenting as atrial fibrillation, fever, lymphadenopathy, and pericardial effusion

Mixed connective tissue disease presenting as atrial fibrillation, fever, lymphadenopathy, and pericardial effusion

Jacob Mathew Jr., Tanner Kim, Timilyn Nunu, Jay Jahanmir AbstrAct Introduction: Mixed connective tissue disease (MctD) is a poorly understood rheumatologic condition that presents with clinical symptoms related to the underlying presence of distinct overlapping autoimmune conditions. Patients can be identified by the presence of a shared antibody to the U1 small nuclear ribonucleoprotein autoantigen. While the condition is considered incurable, prognosis is relatively good with most patients responding well to glucocorticoids.

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Disease evolution in mixed connective tissue disease: results from a long term nationwide prospective cohort study

Disease evolution in mixed connective tissue disease: results from a long term nationwide prospective cohort study

Silje Reiseter 1,2* , Ragnar Gunnarsson 1,2 , Jukka Corander 3 , Joanna Haydon 4 , May Brit Lund 1,5 , Trond Mogens Aaløkken 7 , Eli Taraldsrud 6 , Siri Opsahl Hetlevik 1,2 and Øyvind Molberg 1,2 Abstract Background: The phenotypic stability of mixed connective tissue disease (MCTD) is not clear, and knowledge about disease activity and remission is scarce. We aimed to establish the occurrence of evolution from MCTD to another defined rheumatic condition, and the prevalence and durability of remission after long-term observation.

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Endothelial cell markers reflecting endothelial cell dysfunction in patients with mixed connective tissue disease

Endothelial cell markers reflecting endothelial cell dysfunction in patients with mixed connective tissue disease

Pal Soltesz 1 , Daniel Bereczki 2 , Peter Szodoray 3 , Maria T Magyar 4 , Henrietta Der 1 , Istvan Csipo 1 , Agota Hajas 1 , Gyorgy Paragh 5 , Gyula Szegedi 1 and Edit Bodolay* 1 Abstract Introduction: The aim of the present study was to investigate the association between cardiovascular risk factors and endothelial dysfunction in patients with mixed connective tissue disease (MCTD) and to determine which biomarkers are associated with atherosclerotic complications, such as cardiovascular disease.

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Circulating 20S Proteasome Levels in Patients with Mixed Connective Tissue Disease and Systemic Lupus Erythematosus

Circulating 20S Proteasome Levels in Patients with Mixed Connective Tissue Disease and Systemic Lupus Erythematosus

and Division of Rheumatology and Immunology, Department of Medicine, University of Miami Miller School of Medicine, and the Miami Veteran Affairs Medical Center, 3 Miami, Florida Received 25 May 2008/Returned for modification 16 June 2008/Accepted 18 July 2008 The associations of circulating 20S proteasomes (c20S) with clinical and serologic disease indices in patients with systemic lupus erythematosus (SLE) and mixed connective tissue disease (MCTD) are unknown. We present the initial report that c20S levels are elevated in MCTD and correlate with clinically relevant changes in disease activity in SLE and MCTD.
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SF-DCT INFORMATION FOR MIXED CONNECTIVE TISSUE DISEASE (MCTD) CLAIMS OPTION 1. (MCTD claims are not eligible for Disease Option 2)

SF-DCT INFORMATION FOR MIXED CONNECTIVE TISSUE DISEASE (MCTD) CLAIMS OPTION 1. (MCTD claims are not eligible for Disease Option 2)

Mixed Connective Tissue Disease or MCTD is an autoimmune disease in which the immune system attacks the body. It commonly causes joint pain/swelling, Raynaud’s Phenomenon, muscle inflammation, and scarring of the skin of the hand and has features of Lupus, Scleroderma, Myositis and Rheumatoid Arthritis, together with a large quantity of antibodies against one specific antigen, U1RNP. It is considered a distinct clinical disorder despite its overlap with other diseases and syndromes.

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Mixed connective tissue disease complicated by heart failure in Ile-Ife, Nigeria: management challenges in a resource-limited economy

Mixed connective tissue disease complicated by heart failure in Ile-Ife, Nigeria: management challenges in a resource-limited economy

“rheumatic disease syndrome dissimilar from the overlap syn- dromes” and termed it “mixed connective tissue disease”. The discrete feature of this model was the high titer of antibodies to a saline extractable nuclear antigen, which were isolated into ribonucleoprotein found in a lesser number of patients with classical PSS and SLE. 7 Patients with MCTD may show a favorable response to corticosteroid therapy and a benign course, but the presence of cardiorespiratory complications may spell a rapid devastating clinical course in patients.

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Depression and anxiety and their association with healthcare utilization in pediatric lupus and mixed connective tissue disease patients: a cross-sectional study

Depression and anxiety and their association with healthcare utilization in pediatric lupus and mixed connective tissue disease patients: a cross-sectional study

Abbreviations SLE: Systemic lupus erythematosus; MCTD: Mixed connective tissue disease; PHQ-9: Patient Health Questionnaire- 9; SCARED: Screen for Childhood Anxiety Related Disorders; IRR: Incidence rate ratio; PCP: Primary care provider; ED: Emergency department; CHOP: Children ’ s Hospital of Philadelphia; DSM IV: Diagnostic and Statistical Manual IV; REDCap: Research Electronic Data Capture; QOL: Quality of life; PRQL: Pediatric Rheumatology Quality of Life Scale; CHAQ: Child Health Assessment Questionnaire;

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Mixed Connective Tissue Disease in Children and Adolescents

Mixed Connective Tissue Disease in Children and Adolescents

A review of 234 reported patients with mixed connective tissue disease, including 50 pediatric patients, suggests a higher prevalence of renal and cardiac disease in affected children an[r]

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Esophageal Motor Abnormalities in Children and Adolescents With Scleroderma and Mixed Connective Tissue Disease

Esophageal Motor Abnormalities in Children and Adolescents With Scleroderma and Mixed Connective Tissue Disease

nective tissue disease, esophageal manometry was per- formed on seven patients with progressive systemic sclerosis, four patients with mixed connective tissue.. disease, and two patients[r]

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Purification and Biochemical Characterization of Nuclear Ribonucleoprotein Antigen using Purified Antibody from Serum of a Patient with Mixed Connective Tissue Disease

Purification and Biochemical Characterization of Nuclear Ribonucleoprotein Antigen using Purified Antibody from Serum of a Patient with Mixed Connective Tissue Disease

Makoto Takano, … , Paul F. Agris, Gordon C. Sharp J Clin Invest. 1980;65(6):1449-1456. https://doi.org/10.1172/JCI109809. We have achieved a high degree of purification of nuclear ribonucleoprotein antigen from calf thymus nuclear extract through antibody affinity chromatography. Antibody to nuclear ribonucleoprotein was purified from the serum of a patient with mixed connective tissue disease and Sepharose 4B was covalently coupled with the purified human antibody. The sodium thiocyanate eluate from the affinity column contained active ribonucleoprotein antigen and the specific activity of the antigen in this eluate was 488 times higher than the original nuclear extract. The protein component of the eluate consisted of six polypeptides determined by sodium dodecyl sulfate-polyacrylamide gel electrophoresis. Two of them were shown to be antigenic by a hemagglutination inhibition test. The molecular weights of these two peptides were ~13,000 and those of the other four were 13,000, 13,000, 30,000, and 65,000. The ribonucleic acid component of the eluate was shown by urea-
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Associations between circulating endostatin levels and vascular organ damage in systemic sclerosis and mixed connective tissue disease: an observational study

Associations between circulating endostatin levels and vascular organ damage in systemic sclerosis and mixed connective tissue disease: an observational study

27. Gunnarsson R, Molberg O, Gilboe IM, Gran JT, Group PS. The prevalence and incidence of mixed connective tissue disease: a national multicentre survey of Norwegian patients. Ann Rheum Dis. 2011;70:1047 – 51. 28. Gunnarsson R, Andreassen AK, Molberg O, Lexberg AS, Time K, Dhainaut AS, et al. Prevalence of pulmonary hypertension in an unselected, mixed connective tissue disease cohort: results of a nationwide, Norwegian cross-sectional multicentre study and review of current literature.

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Improved Serological Differentiation between Systemic Lupus Erythematosus and Mixed Connective Tissue Disease by Use of an SmD3 Peptide-Based Immunoassay

Improved Serological Differentiation between Systemic Lupus Erythematosus and Mixed Connective Tissue Disease by Use of an SmD3 Peptide-Based Immunoassay

Received 24 September 2004/Returned for modification 26 October 2004/Accepted 5 November 2004 Autoantibodies to the Sm antigens are specifically found in 5 to 30% of patients with systemic lupus erythematosus (SLE) depending on the detection system and the patient group. Several immunoassays designed for research and diagnostic laboratory use have been developed. The autoantigens employed in these tests include purified native proteins, recombinant polypeptides, and synthetic peptides. In the present study, we compared the clinical accuracy of anti-Sm autoantibody assays from commercial suppliers including different conventional enzyme-linked immunosorbent assay (ELISA) systems based on purified Sm antigens, an addressable laser bead assay and a newly developed anti-Sm peptide assay. Although the clinical sensitivity of all assays under investigation was comparable, relatively poor correlations and significant differences in specificity were found with a patient cohort of 150 patients. The sensitivity and specificity were 10 and 94%, respectively, for the anti-Sm ELISA from Euroimmun, 10 and 90%, respectively, for the QuantaLite Sm (INOVA), 12 and 88%, respectively, for the Sm assay in the Varelisa ReCombi ANA profile (Pharmacia Diagnostics), 10 and 94%, respectively, for the QuantaPlex Sm (INOVA), and 12 and 100%, respectively, for the new SmD3 peptide-based ELISA (Varelisa Sm Antibodies). The majority of positive test results within the control groups were found in patients with mixed connective tissue disease. Based on the results, we conclude that the detection of anti-Sm antibodies strongly depends both on the nature of the antigen and on the detection system. Finally, we conclude that the recently identified SmD peptide containing a symmetrical dimethylarginine at position 112 of D3 represents a promising tool for the detection of a highly specific subpopulation of anti-Sm antibodies.
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Mixed connective tissue disease: state of the art on clinical practice guidelines

Mixed connective tissue disease: state of the art on clinical practice guidelines

of follow-up assessments during the course of disease on the basis of guidelines would facilitate the management of patients for clinicians. 3. CPGs on MCTD treatment: There is no agreement about the initial or long-term treatment of MCTD, es- pecially on the usefulness of low-dose glucocorticoids, antimalaria and immunosuppressive therapies in vari- ous clinical situations. 17 To date, there has been no ran- domised controlled trial in MCTD. Usually, patients with MCTD are treated based on similarities with other CTDs or based on organ-based management. 17 Classification criteria would therefore also enable to perform clinical trials on therapeutic interventions. In addition, the man- agement of comorbidities (such as osteoporosis, athero- sclerosis, etc) and specific situations (such as pregnancy, family planning, etc) should be addressed. Overall, the ERN-ReCONNET MCTD group agrees on the need for evidence-based CPGs on MCTD treatment. Such guide- lines undoubtedly require careful data collection from a larger number of patients and collaboration between experts and registers from different countries.
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Thrombotic Thrombocytopenic Purpura Associated with Mixed Connective Tissue Disease: A Case Report

Thrombotic Thrombocytopenic Purpura Associated with Mixed Connective Tissue Disease: A Case Report

Copyright © 2011 Jo˜ao Tadeu Damian Souto Filho et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Thrombotic thrombocytopenic purpura (TTP) is a multisystemic disorder characterized by microangiopathic hemolytic anemia and thrombocytopenia, which may be accompanied by fever, renal, or neurologic abnormalities. Cases are divided into acute idiopathic TTP and secondary TTP. Autoimmune diseases, especially systemic lupus erythematosus, in association with TTP have been described so far in many patients. In contrast, TTP occurring in a patient with mixed connected tissue disease (MCTD) is extremely rare and has only been described in nine patients. We describe the case of a 42-year-old female with MCTD who developed thrombocytopenia, microangiopathic hemolytic anemia, fever, and neurological symptoms. The patient had a good clinical evolution with infusion of high volume of fresh frozen plasma, steroid therapy, and support in an intensive care unit.
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Autoantibodies specific for apoptotic U1 70K are superior serological markers for mixed connective tissue disease

Autoantibodies specific for apoptotic U1 70K are superior serological markers for mixed connective tissue disease

In our study, a minority of MCTD sera (4%) contained autoantibodies exclusively reacting with intact 70K. We suggest that these sera derive from patients in a relatively late disease phase and primarily contain antibodies result- ing from expanded epitope spreading. Most epitopes rec- ognized by these sera might therefore be dependent on the carboxy-terminal part of the protein, which is cleaved off during apoptosis and is not present on 70K apop . Patients that tested negative in our western blot experiments might either have low levels of anti-70K antibodies or might not produce such antibodies at all. Instead, other components of the U1 snRNP, such as the U1 RNA molecule, U1A or U1C, might be targeted by these sera and might explain their anti-U1 snRNP reactivity.
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Barriers and facilitators for mental healthcare in pediatric lupus and mixed connective tissue disease: a qualitative study of youth and parent perspectives

Barriers and facilitators for mental healthcare in pediatric lupus and mixed connective tissue disease: a qualitative study of youth and parent perspectives

Our findings support cited factors associated with un- met mental healthcare needs such as stigma and those related to access to care [33], but we also identify previ- ously unreported factors that pertain more specifically to youth with SLE/MCTD in subspecialty care. Although recent efforts have focused on augmenting the role of PCPs in delivering mental healthcare to adolescents [17], most of our participants viewed rheumatologists as their primary doctors, identifying them as a preferred first healthcare contact for mental health issues. This was at- tributed to the strong relationship of youth and parents with rheumatologists due to frequent visits and their re- liance on them to interpret symptoms in the context of a highly complex disease. These findings suggest that, from the perspective of families, rheumatologists have a significant opportunity to facilitate their mental health diagnosis and referral.
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Pulmonary manifestations and progression of lung. disease in juvenile onset mixed connective tissue

Pulmonary manifestations and progression of lung. disease in juvenile onset mixed connective tissue

manifestations in juvenile MCTD patients has not previously been reported, and we had a long follow-up of 16.2 years from the diagnosis. All HRCTs, from Time 1 and Time 2, were examined by the same experienced radiologist using a standardised method. In conclusion, this long-term study showed that compared to matched controls, juvenile MCTD patients had impaired pulmonary function. ILD was found in 27% of patients, mostly as mild disease. The presence and extent of ILD did not progress. These findings suggest that ILD is stable in juvenile MCTD, and that the progression and severity of ILD is less prevalent than that reported in adult onset MCTD. Our results may imply that asymptomatic juvenile MCTD patients with mild ILD can be followed with regular PFTs alone, but repeated HRCT should be considered in case of unexplained pulmonary symptoms or reduction in PTFs.
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