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    Musculoskeletal Manifestations of Non-RA Connective Tissue Diseases: Scleroderma, Systemic Lupus Erythematosus, Still's Disease, Dermatomyositis/Polymyositis, Sjögren's Syndrome, and Mixed Connective Tissue Disease.
    Semin Musculoskelet Radiol 2018 Apr 19;22(2):166-179. Epub 2018 Apr 19.
    Department of Musculoskeletal Radiology, University Hospital of Lille, Lille Cedex, France.
    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. Read More

    and polymorphisms in connective tissue diseases and lipid disorders.
    Clin Interv Aging 2018 22;13:463-472. Epub 2018 Mar 22.
    Department of Rheumatology and Internal Diseases, Poznan University of Medical Sciences, Poznan, Poland.
    Background: The aim of the research genetic study was to investigate the association between variants (C1431T and Pro12Ala) of the peroxisome proliferator-activated receptor () 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). Nearly 30% of CTD patients used statins and 10% of the control group. Read More

    Solid phase assays versus automated indirect immunofluorescence for detection of antinuclear antibodies.
    Autoimmun Rev 2018 Mar 8. Epub 2018 Mar 8.
    Laboratory Medicine, University Hospitals Leuven, Belgium; Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium. Electronic address:
    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. Read More

    [Mixed connective tissue disease with pulmonary hypertension developing in a chronic myeloid leukemia patient on dasatinib treatment].
    Rinsho Ketsueki 2018;59(2):174-177
    Division of Hematology, Department of Medicine, Keio University School of Medicine.
    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. Read More

    Following leads: connecting dysphagia to mixed connective tissue disease.
    BMJ Case Rep 2018 Mar 5;2018. Epub 2018 Mar 5.
    Medicina Interna, Hospital Beatriz Ângelo, Loures, Portugal.
    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. Read More

    Association between Rheumatoid Arthritis and Pulmonary Hypertension: Data from the French Pulmonary Hypertension Registry.
    Respiration 2018 28;95(4):244-250. Epub 2018 Feb 28.
    Department of Rheumatology A, Hôpital Cochin, AP-HP, Université Paris 5 René Descartes, Paris, France.
    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. Read More

    Massive Hemorrhagic Pericardial Effusion With Cardiac Tamponade as Initial Manifestation of Mixed Connective Tissue Disease.
    Cardiol Res 2018 Feb 11;9(1):68-71. Epub 2018 Feb 11.
    Advocate Illinois Masonic Medical Center, Chicago, IL 60657, USA.
    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. Read More

    Pulmonary phenotypes associated with genetic variation in telomere-related genes.
    Curr Opin Pulm Med 2018 May;24(3):269-280
    Service de Pneumologie, Centre constitutif du centre de référence, des Maladies Pulmonaires Rares, DHU FIRE, Hôpital Bichat, APHP, INSERM, Unité 1152, LabEx Inflamex, Université Paris Diderot, Paris, France.
    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. Read More

    Survival of adults with systemic autoimmune rheumatic diseases and pulmonary arterial hypertension after lung transplantation.
    Rheumatology (Oxford) 2018 Feb 13. Epub 2018 Feb 13.
    Department of Medicine, Columbia University Medical Center, New York, NY.
    Objectives: Pulmonary arterial hypertension (PAH) is a major cause of morbidity and mortality in adults with systemic autoimmune rheumatic diseases (ARDs). The aim of this study was to determine whether adults with ARDs and PAH on right-sided heart catheterization (ARD-PAH) have increased mortality following lung transplantation compared with those with PAH not due to an ARD.

    Methods: We conducted a retrospective cohort study of 93 adults with ARD-PAH and 222 adults with PAH who underwent lung transplantation in the USA between 4 May 2005 and 9 March 2015 using data from the United Network for Organ Sharing. Read More

    Pulmonary arterial hypertension in the setting of scleroderma is different than in the setting of lupus: A review.
    Respir Med 2018 Jan 2;134:42-46. Epub 2017 Dec 2.
    Yale University, School of Medicine, Section of Pulmonary, Critical Care & Sleep Medicine, New Haven, CT, USA. Electronic address:
    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. PAH can be idiopathic, heritable, or associated with a variety of conditions. Read More

    Autoimmunity in uveitis.
    Acta Ophthalmol 2018 Jan 25. Epub 2018 Jan 25.
    Department of Ophthalmology, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands.
    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. Read More

    [A case of mixed connective tissue disease positive for proteinase 3 antineutrophil cytoplasmic antibody in a patient with slowly progressive type 1 diabetes mellitus and chronic thyroiditis].
    Nihon Rinsho Meneki Gakkai Kaishi 2017 ;40(6):467-470
    Department of Immunology and Rheumatology, Division of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences.
      A female in her sixties with slowly progressive type 1 diabetes mellitus (SPT1DM) and chronic thyroiditis was referred to our rheumatology department with swelling in her fingers. A prominent atherosclerotic lesion was revealed upon brain magnetic resonance imaging, and she was found to have mixed connective tissue disease (MCTD) positive for proteinase 3 (PR3)-antineutrophil cytoplasmic antibody (ANCA). This rare case of MCTD accompanying SPT1DM and PR3-ANCA suggested that a synergy between MCTD and PR3-ANCA triggers atherosclerosis. Read More

    Simultaneous Distinction of Monospecific and Mixed DFS70 Patterns During ANA Screening with a Novel HEp-2 ELITE/DFS70 Knockout Substrate.
    J Vis Exp 2018 Jan 17(131). Epub 2018 Jan 17.
    Research & Development, Immco Diagnostics, A Trinity Biotech Company.
    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. Read More

    Outcomes and Mortality Prediction Model of Critically Ill Adults With Acute Respiratory Failure and Interstitial Lung Disease.
    Chest 2018 Jan 17. Epub 2018 Jan 17.
    Division of Pulmonary, Allergy, and Critical Care Medicine, Columbia University College of Physicians and Surgeons/New York-Presbyterian Hospital, New York, NY. Electronic address:
    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. We examined associations of ICU-day 1 characteristics with in-hospital and 1-year mortality, using Poisson regression, and examined survival using Kaplan-Meier curves. Read More

    Screening for connective tissue disease-associated antibodies by automated immunoassay.
    Clin Chem Lab Med 2018 Jan 8. Epub 2018 Jan 8.
    Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium.
    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). Read More

    [Clinical features of acute diffuse pulmonary exudative disorders].
    Zhonghua Yi Xue Za Zhi 2017 Nov;97(44):3445-3449
    Department of Respiratory and Critical Care Medicine, Beijing Chaoyang Hospital, Capital Medical University, Beijing 100020, China.
    To analyze the clinical features of acute diffuse pulmonary exudative disorders. 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. Read More

    Emergence of Smoldering ANCA-associated Glomerulonephritis During the Clinical Course of Mixed Connective Tissue Disease and Sjögren's Syndrome.
    Intern Med 2017 Dec 21. Epub 2017 Dec 21.
    Department of Internal Medicine, Teikyo University School of Medicine, Japan.
    A 67-year-old woman presented with hematuria and proteinuria 16 and 11 months ago, respectively. She had been followed up as mixed connective tissue disease and Sjögren's syndrome for over 19 years. Blood chemistry showed no elevated serum creatinine or C-reactive protein but did reveal myeloperoxidase-antineutrophil cytoplasmic antibody (MPO-ANCA) of 300 U/dl. Read More

    Disease evolution in mixed connective tissue disease: results from a long-term nationwide prospective cohort study.
    Arthritis Res Ther 2017 Dec 21;19(1):284. Epub 2017 Dec 21.
    Institute of Clinical Medicine, University of Oslo, Postbox 1171, Blindern, 0318, Oslo, Norway.
    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.

    Methods: In this large population-based prospective observational MCTD cohort study (N = 118), disease conversion was defined by the development of new auto-antibodies and clinical features compliant with another well-defined rheumatic condition. Read More

    Delayed-type hypersensitivity to metals in connective tissue diseases and fibromyalgia.
    Environ Res 2018 Feb;161:573-579
    Faculty of Public Health, Inland Norway University of Applied Sciences, Elverum, Norway; Department of Research, Innlandet Hospital Trust, Brumunddal, Norway.
    Rheumatic diseases include a group of autoimmune disorders with environmental and genetic etiology that are characterized as a subgroup of connective tissue diseases (CTD). Rheumatoid arthritis (RA) often involves the small joints of the hands in a symmetrical fashion that can lead to loss of joint function, and RA, as well as Sjögren's syndrome (SS) and other rheumatic diseases, are often accompanied by sensitivity to metals. Numerous investigations on metal sensitivity were evaluated in this review. Read More

    The Voice of Autoimmunity: Antisynthetase Syndrome Manifesting as Vocal Fold Bamboo Nodes.
    Ann Otol Rhinol Laryngol 2018 Feb 15;127(2):128-130. Epub 2017 Dec 15.
    1 Sean Parker Institute for the Voice, Department of Otolaryngology-Head and Neck Surgery, Weill Cornell Medical College/NewYork-Presbyterian Hospital, New York, New York, USA.
    Objectives: To describe a case of vocal fold bamboo nodes leading to the diagnosis of antisynthetase syndrome, a rare autoimmune disorder. To highlight the link between these laryngeal lesions and autoimmunity.

    Methods: A case of vocal fold bamboo nodes in a patient with long-standing interstitial lung disease is presented. Read More

    Calcium channel blockers for primary and secondary Raynaud's phenomenon.
    Cochrane Database Syst Rev 2017 12 13;12:CD000467. Epub 2017 Dec 13.
    Department of Medicine, University of Western Ontario, 268 Grosvenor Street, London, ON, Canada, N6A 4V2.
    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. Read More

    Which diseases are risk factors for developing gastroesophageal reflux disease?
    Turk J Gastroenterol 2017 12;28(Suppl 1):S44-S47
    Clinic of Gastroenterology, Tekirdağ State Hospital, Tekirdağ, Turkey
    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. Read More

    Chylous ascites in a patient with an overlap syndrome: a surprising response to rituximab.
    BMJ Case Rep 2017 Oct 20;2017. Epub 2017 Oct 20.
    Leeds Biomedical Research Centre, Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, UK.
    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. Read More

    Scleroderma Renal Crisis in Mixed Connective Tissue Disease With Full Renal Recovery Within 3 Months: A Case Report With Expanding Treatment Modalities to Treat Each Clinical Sign as an Independent Entity.
    J Investig Med High Impact Case Rep 2017 Oct-Dec;5(4):2324709617734012. Epub 2017 Oct 10.
    Eastern Virginia Medical School, Norfolk, VA, USA.
    Mixed connective tissue disease (MCTD) is a rheumatologic overlap syndrome that can present with symptoms of systemic lupus erythematous, scleroderma, and polymyositis. A severe but rare complication that can occur in MCTD is scleroderma renal crisis. With multiple poor prognostic indicators, the renal outcome is usually poor. Read More

    Clinical trial protocol for TRANSFORM-UK: A therapeutic open-label study of tocilizumab in the treatment of pulmonary arterial hypertension.
    Pulm Circ 2018 Jan-Mar;8(1):2045893217735820. Epub 2017 Sep 28.
    2 2144 Pulmonary Vascular Disease Unit , Papworth Hospital, Cambridge, UK.
    Our aim is to assess the safety and potential efficacy of a novel treatment paradigm in pulmonary arterial hypertension (PAH), immunomodulation by blocking interleukin-6 (IL6) signaling with the IL6 receptor antagonist, tocilizumab. Inflammation and autoimmunity are established as important in PAH pathophysiology. One of the most robust observations across multiple cohorts in PAH has been an increase in IL6, both in the lung and systemically. Read More

    How can we effectively address the paraneoplastic dermatomyositis: Diagnosis, risk factors and treatment options.
    J BUON 2017 Jul-Aug;22(4):1073-1080
    University of Ioannina, School of Health Sciences, Faculty of Medicine, Ioannina, Greece.
    Purpose: Dermatomyositis (DM) represents an auto-immune inflammatory myopathy. In this review, we analyzed the incidence of DM as a clinical manifestation highlighting the peculiar clinical and treatment characteristics of this disease when occurring in the context of different malignancies.

    Methods: A systematic literature review was performed based on database search in PubMed/Medline and included English articles until December 2016. Read More

    Retinal Vasculitis and Choroidopathy in Pediatric-Onset Mixed Connective Tissue Disease.
    J Clin Rheumatol 2017 Oct;23(7):400-401
    Division of Rheumatology Department of Medicine College of Medicine University of Tennessee Health Science Center, Memphis, TN Department of Ophthalmology University of Tennessee Health Science Center, Memphis, TN Division of Rheumatology Department of Medicine College of Medicine University of Tennessee Health Science Center, Memphis, TN Division of Rheumatology Department of Medicine and Department of Pediatrics College of Medicine University of Tennessee Health Science Center, Memphis, TN Department of Otolaryngotology University of Tennessee Health Science Center, Memphis, TN Department of Ophthalmology University of Tennessee Health Science Center, Memphis, TN Division of Rheumatology Department of Medicine College of Medicine University of Tennessee Health Science Center, Memphis, TN Division of Clinical Immunology and Rheumatology, Department of Pediatrics University of Tennessee Health Science Center, Memphis, TN Division of Clinical Immunology and Rheumatology, Department of Pediatrics University of Tennessee Health Science Center, Memphis, TN

    [Mixed connective tissue disease: prevalence and clinical characteristics in African black, study of 7 cases in Gabon and review of the literature].
    Pan Afr Med J 2017 30;27:162. Epub 2017 Jun 30.
    Département de Médecine Interne et Spécialités Médicales, Université des Sciences de la Santé, BP 4009 Libreville Gabon.
    The literature reports that mixed connective tissue disease seems more frequent in the black population and among Asians. This study aims to determine the prevalence of mixed connective tissue disease (MCTD) among connective tissue disorders and all rheumatologic pathologies in a hospital population in Gabon as well as to describe the clinical features of this disease. We conducted a retrospective study by reviewing the medical records of patients treated for mixed connective tissue disease (Kasukawa criteria) and other entities of connective tissue disorders (ACR criteria) in the Division of Rheumatology at the University Hospital in Libreville between January 2010 and December 2015. Read More

    Predictors of Favorable Responses to Immunosuppressive Treatment in Pulmonary Arterial Hypertension Associated With Connective Tissue Disease.
    Circ J 2018 Jan 12;82(2):546-554. Epub 2017 Sep 12.
    Division of Rheumatology, Department of Internal Medicine, Keio University School of Medicine.
    Background: The potential efficacy of immunosuppressive (IS) treatment has been reported in patients with pulmonary arterial hypertension (PAH) associated with connective tissue disease (CTD), but its positioning in the treatment algorithm remains uncertain. The aim of this study was to identify predictors of favorable responses to first-line IS treatment.Methods and Results:This single-center retrospective study included 30 patients with PAH accompanied by systemic lupus erythematosus (SLE), mixed CTD (MCTD), or primary Sjögren's syndrome (SS) who received first-line IS treatment alone or in combination with pulmonary vasodilators. Read More

    [Manifestations of the connective tissue associated interstitial lung disease under high resolution computed tomography].
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 2017 Aug;42(8):934-939
    Department of Radiology, Xiangya Hospital, Central South University, Changsha 410008, China.
    Objective: To analyze the features of the connective tissue associated interstitial lung disease (CTD-ILD) by high resolution computed tomography (HRCT).
 Methods: A total of 127 patients with CTD-ILD, who were diagnosed by clinic laboratory examination and pathology in Xiangya Hospital of Central South University form September 2013 to September 2015, were enrolled for this study. Their lung features of HRCT imaging were retrospectively analyzed. Read More

    Intravenous immunoglobulins for treatment of connective tissue diseases in dermatology.
    Wien Med Wochenschr 2017 Sep 1. Epub 2017 Sep 1.
    Department of Dermatology and Venereology, Medical University of Sofia, 1st, 1431, Sofia, Bulgaria.
    Background: Connective tissue diseases are a heterogeneous group of autoimmune disorders affecting not only skin, but also various organs and systems. First-line treatment of connective tissue diseases is systemic steroids as monotherapy or combined with immunosuppressive drugs. Since intravenous immunoglobulins (IVIGs) have been found to be effective for various autoimmune dermatoses, their indications have expanded tremendously. Read More

    Facts and controversies in mixed connective tissue disease.
    Med Clin (Barc) 2018 Jan 31;150(1):26-32. Epub 2017 Aug 31.
    Servicio de Reumatología, Hospital General Universitario Gregorio Marañón, Madrid, España; Instituto de Investigación Biomédica Hospital Gregorio Marañón, Madrid, España; Universidad Complutense de Madrid, Madrid, España.
    Mixed connective tissue disease (MCTD) is a systemic autoimmune rheumatic disease (SARD) characterised by the combination of clinical manifestations of systemic lupus erythematosus (SLE), cutaneous systemic sclerosis (SSc) and polymyositis-dermatomyositis, in the presence of elevated titers of anti-U1-RNP antibodies. Main symptoms of the disease are polyarthritis, hand oedema, Raynaud's phenomenon, sclerodactyly, myositis and oesophageal hypomobility. Although widely discussed, most authors today accept MCTD as an independent entity. Read More

    Imaging the emergence and natural progression of spontaneous autoimmune diabetes.
    Proc Natl Acad Sci U S A 2017 Sep 24;114(37):E7776-E7785. Epub 2017 Aug 24.
    Division of Immunology, Department of Microbiology and Immunobiology, Harvard Medical School, Boston, MA 02115;
    Type 1 diabetes in the nonobese diabetic mouse stems from an infiltration of the pancreatic islets by a mixed population of immunocytes, which results in the impairment and eventual destruction of insulin-producing β-cells. Little is known about the dynamics of lymphocyte movement in the pancreas during disease progression. Using advanced intravital imaging approaches and newly created reporter mice (, , , ), we show that the autoimmune process initiates first with a T cell infiltration into the islets, where they have restricted mobility but reside and are activated in apposition to CX3CR1 macrophages. Read More

    The Microbiome in Connective Tissue Diseases and Vasculitides: An Updated Narrative Review.
    J Immunol Res 2017 1;2017:6836498. Epub 2017 Aug 1.
    Department of Rheumatology, ASST Fatebenefratelli-Sacco, Milan, Italy.
    Objective: To provide a narrative review of the most recent data concerning the involvement of the microbiome in the pathogenesis of connective tissue diseases (CTDs) and vasculitides.

    Methods: The PubMed database was searched for articles using combinations of words or terms that included systemic lupus erythematosus, systemic sclerosis, autoimmune myositis, Sjögren's syndrome, undifferentiated and mixed CTD, vasculitis, microbiota, microbiome, and dysbiosis. Papers from the reference lists of the articles and book chapters were reviewed, and relevant publications were identified. Read More

    Selexipag for the treatment of connective tissue disease-associated pulmonary arterial hypertension.
    Eur Respir J 2017 Aug 17;50(2). Epub 2017 Aug 17.
    Dept of Respiratory Medicine, Hannover Medical School and German Centre for Lung Research, Hannover, Germany.
    Patients with connective tissue disease-associated pulmonary arterial hypertension (PAH-CTD) have a poor prognosis compared with other aetiologies. The underlying CTD can influence treatment response and outcomes. We characterised the GRIPHON study PAH-CTD subgroup and evaluated response to selexipag. Read More

    Regulatory T cell deficient scurfy mice exhibit a Th2/M2-like inflammatory response in the skin.
    J Dermatol Sci 2017 Sep 13;87(3):285-291. Epub 2017 Jul 13.
    Department of Dermatology, University of Heidelberg, Im Neuenheimer Feld 440, 69120 Heidelberg, Germany. Electronic address:
    Background: Scurfy mice have a functional defect in regulatory T cells (Treg), which leads to lethal multi-organ inflammation. The missing Treg function results in uncontrolled autoimmune cellular and humoral inflammatory responses. We and others have previously shown that during the course of disease scurfy mice develop severe skin inflammation and autoantibodies including anti-nuclear autoantibodies (ANA). Read More

    Protein-losing Gastroenteropathy Related to Mixed Connective Tissue Disease: A Case Report of a Successful Outcome and Literature Review.
    Intern Med 2017 1;56(15):2057-2062. Epub 2017 Aug 1.
    Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Japan.
    We herein report the case of a 44-year-old woman who developed protein-losing gastroenteropathy (PLGE) with hypoalbuminemia as the first manifestation of mixed connective tissue disease (MCTD). Albumin leakage from the stomach and intestinal tract was demonstrated by Tc-labeled human serum albumin scintigraphy. The patient's response to prednisolone therapy was insufficient; therefore, additional cyclosporin A (CsA) treatment was administered, and clinical remission was achieved. Read More

    Comparisons of neutrophil-, monocyte-, eosinophil-, and basophil- lymphocyte ratios among various systemic autoimmune rheumatic diseases.
    APMIS 2017 Oct 2;125(10):863-871. Epub 2017 Aug 2.
    Department of Laboratory Diagnostics, Changzheng Hospital, Second Military Medical University, Shanghai, China.
    This study was aimed to evaluate levels of neutrophil- (NLR), monocyte- (MLR), eosinophil- (ELR), and basophil-lymphocyte ratio (BLR) and their association with inflammatory markers in systemic autoimmune rheumatic diseases (SARDs). A total of 1139 SARD patients and 170 healthy individuals were enrolled. Clinical and laboratory data were extracted. Read More

    Clinical and pathologic implications of extending the spectrum of maternal autoantibodies reactive with ribonucleoproteins associated with cutaneous and now cardiac neonatal lupus from SSA/Ro and SSB/La to U1RNP.
    Autoimmun Rev 2017 Sep 12;16(9):980-983. Epub 2017 Jul 12.
    Division of Rheumatology, Department of Medicine, New York University School of Medicine, New York, NY, United States.
    While the relationship between maternal connective tissue diseases and neonatal rashes was described in the 1960s and congenital heart block in the 1970s, the "culprit" antibody reactivity to the SSA/Ro-SSB/La ribonucleoprotein complex was not identified until the 1980s. However, studies have shown that approximately 10-15% of cases of congenital heart block are not exposed to anti-SSA/Ro-SSB/La. Whether those cases represent a different disease entity or whether another antibody is associated has yet to be determined. Read More

    An unusual association between hemophagocytic lymphohistiocytosis, mixed connective tissue disease, and autoimmune hemolytic anemia: A case report.
    Medicine (Baltimore) 2017 Jul;96(28):e7488
    aDepartment of Internal Medicine bDepartment of Pathology, University of Illinois College of Medicine at Peoria, Peoria cDepartment of Gastroenterology, University of Illinois College of Medicine at Chicago, Chicago, IL.
    Rationale: In the adult patient, hemophagocytic lymphohistiocytosis (HLH) is uncommon and frequently difficult to diagnose due to its nonspecific presentation and numerous complications.

    Patient Concerns: Herein, we present the case of a 25-year-old female who initially presented for evaluation of persistent fevers and fatigue. She was found to have splenomegaly, generalized lymphadenopathy, pancytopenia, and acute hepatic failure. Read More

    Autoamputation and Polyneuropathy in Mixed Connective Tissue Disorder: A Case Report.
    Cureus 2017 Jun 5;9(6):e1313. Epub 2017 Jun 5.
    Department of Medicine, Jinnah Postgraduate Medical Center Karachi Pakistan.
    Mixed connective tissue disorder (MCTD) is a multisystem disease with overlapping features of other autoimmune diseases, such as systemic lupus erythematosus (SLE), myositis, rheumatoid arthritis, and scleroderma. MCTD presents with a distinctive antibody in serum known as U1-ribonucleoprotein (RNP). MCTD is quite rare as compared to other connective tissue disorders like SLE, systemic sclerosis, dermatomyositis, and polymyositis. Read More

    Prevalence of anti-NT5C1A antibodies in Japanese patients with autoimmune rheumatic diseases in comparison with other patient cohorts.
    Clin Chim Acta 2017 Sep 4;472:1-4. Epub 2017 Jul 4.
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
    Background: Sporadic inclusion body myositis (sIBM) is usually classified as an idiopathic inflammatory myopathies. Although the diagnosis of sIBM is sometimes challenging, recent studies have shown that the autoantibodies against cytosolic 5'-nucleotidase 1A (NT5C1A) are the possible diagnostic biomarker for sIBM. Few reports have shown the frequencies of anti-NT5C1A antibodies in systemic autoimmune rheumatic diseases (SARDs) using large cohorts of SARDs. Read More

    Rituximab versus cyclophosphamide for the treatment of connective tissue disease-associated interstitial lung disease (RECITAL): study protocol for a randomised controlled trial.
    Trials 2017 Jun 15;18(1):275. Epub 2017 Jun 15.
    NIHR Biomedical Research Unit, Royal Brompton Hospital, Sydney Street, London, SW3 6NP, UK.
    Background: Interstitial lung disease (ILD) frequently complicates systemic autoimmune disorders resulting in considerable morbidity and mortality. The connective tissue diseases (CTDs) most frequently resulting in ILD include: systemic sclerosis, idiopathic inflammatory myositis (including dermatomyositis, polymyositis and anti-synthetase syndrome) and mixed connective tissue disease. Despite the development, over the last two decades, of a range of biological therapies which have resulted in significant improvements in the treatment of the systemic manifestations of CTD, the management of CTD-associated ILD has changed little. Read More

    Phosphaturic Mesenchymal Tumors: Clinicopathologic, Immunohistochemical and Molecular Analysis of 22 Cases Expanding their Morphologic and Immunophenotypic Spectrum.
    Am J Surg Pathol 2017 Oct;41(10):1371-1380
    *Institute of Pathology ††Department of Hand & Plastic Surgery, University Hospital, Erlangen **Institute of Pathology ‡‡Department of Orthopedic & Traumatology, Section for Tumor Orthopedics, University Hospital, Bonn, Germany †Department of Pathology, Faculty of Medicine in Pilsen, Charles University, Prague ‡Biomedical Center of the Faculty of Medicine in Pilsen, Pilsen, Czech Republic §Department of Pathology, University of Pittsburgh Medical Center, Presbyterian Hospital, Pittsburgh, PA ∥Department of Pathology, National University Health System, Singapore ¶Department of Pathology, 3rd Medical Faculty in Prague, Charles University, Prague, Czech Republic.
    Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm of uncertain histogenesis that has been linked to tumor-induced osteomalacia (TIO) since 1959. The neoplastic cells produce increased amount of FGF23 which results in TIO via uncontrolled renal loss of phosphate (phosphaturia), and consequently diminished bone mineralization. To date, ∼300 cases have been reported. Read More

    Pulmonary-Limited Granulomatosis with Polyangiitis Coexisting with Mixed Connective Tissue Disease.
    Tohoku J Exp Med 2017 06;242(2):109-114
    Department of Respiratory Medicine and Infectious Diseases, Oita University Faculty of Medicine.
    Granulomatosis with polyangiitis (GPA) is a systemic disease characterized by necrotizing, granulomatous vasculitis of the upper and lower respiratory tracts and glomerulonephritis, and is classified as a classical or limited form. The classical form of GPA demonstrates the involvement of the upper respiratory tract, sinuses, lungs and kidneys, whereas the limited form is characterized by the lack of the renal involvement with female predominance. On the other hand, mixed connective tissue disease (MCTD) shows the clinical and laboratorial features of systemic lupus erythematosus, systemic sclerosis and polymyositis, along with high titers of anti-ribonucleoprotein antibodies and is characterized by good response to corticosteroid therapy and favorable prognosis. Read More

    Antiribonuclease H2 antibodies are an immune biomarker for systemic lupus erythematosus.
    Autoimmunity 2017 Jun 27;50(4):241-246. Epub 2017 May 27.
    a Department of Rheumatology , Juntendo University School of Medicine , Tokyo , Japan.
    We previously reported that autoantibodies against the proliferating cell nuclear antigen protein (PCNA)-binding protein chromatin assembly factor-1 (CAF-1) are specifically found in patients with systemic lupus erythematosus (SLE). PCNA and its complex constituents elicit autoimmune responses in patients with SLE, suggesting that autoantibody diversification likely occurs owing to epitope spreading. Therefore, we sought to clarify whether patients with SLE exhibit an autoimmune response to Ribonuclease H2 (RNase H2), another PCNA-binding protein that regulates cell division. Read More

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