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Sjogren' Syndrome

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https://www.readbyqxmd.com/read/28819721/inherited-not-acquired-gitelman-syndrome-in-a-patient-with-sj%C3%A3-gren-s-syndrome-importance-of-genetic-testing-to-distinguish-the-two-forms
#1
Eikan Mishima, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Takaaki Abe, Sadayoshi Ito
Gitelman syndrome (GS) is an autosomal recessive, salt-losing renal tubulopathy caused by mutations in the SLC12A3 gene; however, it can also be acquired in patients with autoimmune disease, especially in those with Sjögren's syndrome. Differentiating between the inherited and acquired forms of GS is clinically difficult. We report a case of inherited, not acquired, GS in a patient with Sjögren's syndrome. A 41-year-old woman, who had been diagnosed with Sjögren's syndrome at 27-years-old, had shown chronic hypokalemia (2...
August 17, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28818099/biosemantics-guided-gene-expression-profiling-of-sj%C3%A3-gren-s-syndrome-a-comparative-analysis-with-systemic-lupus-erythematosus-and-rheumatoid-arthritis
#2
Nirav R Shah, Braxton D Noll, Craig B Stevens, Michael T Brennan, Farah B Mougeot, Jean-Luc C Mougeot
BACKGROUND: Sjögren's syndrome (SS) shares many clinical and pathological similarities with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). These autoimmune diseases mostly affect women. In this study, concept profile analysis (CPA) and gene expression meta-analysis were used to identify genes potentially involved in SS pathogenesis. METHODS: Human genes associated with SS, SLE, and RA were identified using the CPA tool, Anni 2.1. The differential mRNA expression of genes common to SS and SLE (SS-SLE) was determined in female peripheral blood mononuclear cells (PBMCs) using NCBI-GEO2R...
August 17, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28816552/the-role-of-biopsy-in-lacrimal-gland-inflammation-a-clinicopathologic-study
#3
Panitee Luemsamran, Jack Rootman, Valerie A White, Nariman Nassiri, Manraj K S Heran
PURPOSE: To determine the causes of lacrimal gland inflammation based on histopathology and systemic evaluation. METHODS: This is a retrospective case series study. From the University of British Columbia Orbit Clinic between January 1976 and December 2008, we reviewed the medical records of 60 patients who presented with inflammatory features of the lacrimal gland (i.e., erythema, edema, or tenderness) in which the diagnoses were not possible clinically and on imaging alone...
August 17, 2017: Orbit
https://www.readbyqxmd.com/read/28814662/irgm1-coordinately-regulates-autoimmunity-and-host-defense-at-select-mucosal-surfaces
#4
Kathleen M Azzam, Jennifer H Madenspacher, Derek W Cain, Lihua Lai, Kymberly M Gowdy, Prashant Rai, Kyathanahalli Janardhan, Natasha Clayton, Willie Cunningham, Heather Jensen, Preeyam S Patel, John F Kearney, Gregory A Taylor, Michael B Fessler
The pathogenesis of primary Sjogren's syndrome (SS), an autoimmune disease that targets the mucosa of exocrine tissues, is poorly understood. Although several mouse models have been developed that display features of SS, most of these are within the larger context of a lupus-like presentation. Immunity-related GTPase family M protein 1 (Irgm1) is an interferon-inducible cytoplasmic GTPase that is reported to regulate autophagy and mitochondrial homeostasis. Here, we report that naive Irgm1-/- mice display lymphocytic infiltration of multiple mucosal tissues including the lung in a manner reminiscent of SS, together with IgA class-predominant autoantibodies including anti-Ro and anti-La...
August 17, 2017: JCI Insight
https://www.readbyqxmd.com/read/28814359/the-risk-of-autoimmune-connective-tissue-diseases-in-patients-with-atopy-a-nationwide-population-based-cohort-study
#5
Yi-Chun Hou, Hsiao-Yun Hu, I-Lin Liu, Yun-Ting Chang, Chen-Yi Wu
BACKGROUND: The relationship between autoimmune connective tissue disease (ACTD) and atopy is controversial. OBJECTIVES: To investigate the risks of ACTDs in patients with atopic triad diseases, including atopic dermatitis, allergic rhinitis, and asthma, by using a nationwide data base. METHODS: A cohort of 155,311 patients newly diagnosed with atopic dermatitis, allergic rhinitis, or asthma in 2002-2011 was obtained from the Taiwan National Health Insurance Research Database...
September 1, 2017: Allergy and Asthma Proceedings:
https://www.readbyqxmd.com/read/28811201/the-unmet-need-in-rheumatology-reports-from-the-targeted-therapies-meeting-2017
#6
Kevin L Winthrop, Vibeke Strand, Désirée van der Heijde, Philip Mease, Mary Crow, Michael Weinblatt, Joan Bathon, Gerd R Burmester, Maxime Dougados, Johnathan Kay, Xavier Mariette, Ronald Van Vollenhoven, Joachim Sieper, Fritz Melchers, Ferdinand C Breedfeld, Joachim Kalden, Josef S Smolen, Daniel E Furst
The 19th annual international Targeted Therapies meeting brought together over 100 leading basic scientists and clinical researchers from around the world in the field of immunology, molecular biology and rheumatology and other specialties. During the meeting, breakout sessions were held consisting of 5 disease-specific groups with 20-40 experts assigned to each group based on clinical or scientific expertise. Specific groups included: rheumatoid arthritis, psoriatic arthritis, axial spondyloarthritis, systemic lupus erythematous, connective tissue diseases (e...
August 12, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28804991/nf-%C3%AE%C2%BAb2-controls-migratory-activity-of-memory-t-cells-by-regulating-expression-of-cxcr4-in-a-mouse-model-of-sj%C3%A3-gren-s-syndrome
#7
Mie Kurosawa, Rieko Arakaki, Akiko Yamada, Takaaki Tsunematsu, Yasusei Kudo, Jonathan Sprent, Naozumi Ishimaru
OBJECTIVE: Dysregulated chemokine signaling contributes to autoimmune diseases by facilitating aberrant T-cell infiltration into target tissues, but the specific chemokines, receptors, and T-cell populations remain largely unidentified. Role of the potent chemokine CXCL12 and its receptor CXCR4 in T-cell autoimmune response was examined using alymphoplasia (aly)/aly mice, a Sjögren's syndrome (SS) model. METHODS: T-cell phenotypes in the salivary gland of aly/aly mice were evaluated using immunological analysis...
August 13, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28804486/first-association-of-interleukin-12-receptor-beta-1-deficiency-with-sj%C3%A3-gren-s-syndrome
#8
Georgios Sogkas, Faranaz Atschekzei, Vivien Schacht, Christian von Falck, Alexandra Jablonka, Roland Jacobs, Matthias Stoll, Torsten Witte, Reinhold E Schmidt
INTRODUCTION: Interleukin 12 receptor beta 1 (IL12Rβ1) deficiency is a primary immunodeficiency resulting mainly in susceptibility to opportunistic infection by non-tuberculous, environmental mycobacteria and severe infection caused by Salmonella spp. Till now, less than 300 patients with IL12Rβ1 deficiency have been reported. Among them, only three have been described to develop autoimmunity. CASE PRESENTATION: We present the case of a 50-year-old male with IL12Rβ1 deficiency due to compound heterozygosity [c...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28802258/human-blood-tfr-cells-are-indicators-of-ongoing-humoral-activity-not-fully-licensed-with-suppressive-function
#9
Valter R Fonseca, Ana Agua-Doce, Ana Raquel Maceiras, Wim Pierson, Filipa Ribeiro, Vasco C Romão, Ana Rita Pires, Susana Lopes da Silva, João Eurico Fonseca, Ana E Sousa, Michelle A Linterman, Luis Graca
Germinal center (GC) responses are controlled by T follicular helper (Tfh) and T follicular regulatory (Tfr) cells and are crucial for the generation of high-affinity antibodies. Although the biology of human circulating and tissue Tfh cells has been established, the relationship between blood and tissue Tfr cells defined as CXCR5(+)Foxp3(+) T cells remains elusive. We found that blood Tfr cells are increased in Sjögren syndrome, an autoimmune disease with ongoing GC reactions, especially in patients with high autoantibody titers, as well as in healthy individuals upon influenza vaccination...
August 11, 2017: Science Immunology
https://www.readbyqxmd.com/read/28801391/primary-sjogren-s-syndrome-and-the-risk-of-acute-pancreatitis-a-nationwide-cohort-study
#10
Chi-Ching Chang, Yu-Sheng Chang, Shu-Hung Wang, Shyr-Yi Lin, Yi-Hsuan Chen, Jin Hua Chen
OBJECTIVE: Studies on the risk of acute pancreatitis in patients with primary Sjogren's syndrome (pSS) are limited. We evaluated the effects of pSS on the risk of acute pancreatitis in a nationwide, population-based cohort in Taiwan. STUDY DESIGN: Population-based retrospective cohort study. SETTING: We studied the claims data of the >97% Taiwan population from 2002 to 2012. PARTICIPANTS: We identified 9468 patients with pSS by using the catastrophic illness registry of the National Health Insurance Database in Taiwan...
August 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28798231/p2x7-receptor-antagonism-prevents-il-1%C3%AE-release-from-salivary-epithelial-cells-and-reduces-inflammation-in-a-mouse-model-of-autoimmune-exocrinopathy
#11
Mahmoud G Khalafalla, Lucas T Woods, Jean M Camden, Aslam A Khan, Kirsten H Limesand, Michael J Petris, Laurie Erb, Gary A Weisman
Salivary gland inflammation is a hallmark of Sjogrens syndrome (SS), a common autoimmune disease characterized by lymphocytic infiltration of the salivary gland and loss of saliva secretion, predominantly in women. The P2X7 receptor (P2X7R) is an ATP-gated non-selective cation channel that induces inflammatory responses in cells and tissues, including salivary gland epithelium. In immune cells, P2X7R activation induces the production of proinflammatory cytokines, including IL-1β and IL-18, by inducing the oligomerization of the multiprotein complex NLRP3-type inflammasome...
August 10, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28791611/chronic-autoimmune-epithelitis-in-sj%C3%A3-gren-s-syndrome-and-primary-biliary-cholangitis-a-comprehensive-review
#12
REVIEW
Carlo Selmi, M Eric Gershwin
Within the spectrum of autoimmune diseases, Sjögren's syndrome and primary biliary cholangitis are exemplary and can be coined as chronic epithelitis based on their frequent coexistence in clinical practice and the highly specific immune-mediated injury of the small bile ducts and the exocrine glands. The pathogenic mechanisms underlying the diseases are similar, with apoptosis being the key element leading to organ-specific immune-mediated injury directed against the small bile ducts and salivary gland epithelia, respectively along with similar epidemiological features, such as female predominance and the age of onset in the fifth decade of life...
August 8, 2017: Rheumatology and Therapy
https://www.readbyqxmd.com/read/28789696/long-term-follow-up-in-primary-sj%C3%A3-gren-s-syndrome-reveals-differences-in-clinical-presentation-between-female-and-male-patients
#13
Jorge I Ramírez Sepúlveda, Marika Kvarnström, Per Eriksson, Thomas Mandl, Katrine Brække Norheim, Svein Joar Johnsen, Daniel Hammenfors, Malin V Jonsson, Kathrine Skarstein, Johan G Brun, Lars Rönnblom, Helena Forsblad-d'Elia, Sara Magnusson Bucher, Eva Baecklund, Elke Theander, Roald Omdal, Roland Jonsson, Gunnel Nordmark, Marie Wahren-Herlenius
BACKGROUND: Despite men being less prone to develop autoimmune diseases, male sex has been associated with a more severe disease course in several systemic autoimmune diseases. In the present study, we aimed to investigate differences in the clinical presentation of primary Sjögren's syndrome (pSS) between the sexes and establish whether male sex is associated with a more severe form of long-term pSS. METHODS: Our study population included 967 patients with pSS (899 females and 68 males) from Scandinavian clinical centers...
August 8, 2017: Biology of Sex Differences
https://www.readbyqxmd.com/read/28783737/salivary-gland-ultrasonography-as-a-predictor-of-clinical-activity-in-sj%C3%A3-gren-s-syndrome
#14
Tania Fidelix, Adriano Czapkowski, Sergio Azjen, Adagmar Andriolo, Virginia F M Trevisani
PURPOSE: Primary Sjögren's syndrome is a multisystem autoimmune disease characterized by hypofunction of salivary and lacrimal glands and possible multi-organ system manifestations. Over the past 15 years, three sets of diagnostic criteria have been proposed, but none has included salivary gland ultrasonography. However, recent studies support its role in the diagnosis and prognostic evaluation of patients with Sjögren's syndrome. This study aimed to determine the value of salivary gland ultrasonography in the diagnosis and prognosis of Sjögren's syndrome by relating ultrasonography severity scores to clinical and laboratory data...
2017: PloS One
https://www.readbyqxmd.com/read/28783408/sj%C3%A3-gren-s-syndrome
#15
Iona Thorne, Nurhan Sutcliffe
This review discusses important aspects of the diagnosis and management of Sjögren's syndrome, covering clinical features, diagnosis and management, and summarizes recent developments in diagnosis, prognostication and treatment.
August 2, 2017: British Journal of Hospital Medicine
https://www.readbyqxmd.com/read/28783171/the-pdgfr%C3%AE-laminin-b1-keratin-19-cascade-drives-tumor-progression-at-the-invasive-front-of-human-hepatocellular-carcinoma
#16
O Govaere, M Petz, J Wouters, Y-P Vandewynckel, E J Scott, B Topal, F Nevens, C Verslype, Q M Anstee, H Van Vlierberghe, W Mikulits, T Roskams
Human hepatocellular carcinomas (HCCs) expressing the biliary/hepatic progenitor cell marker keratin 19 (K19) have been linked with a poor prognosis and exhibit an increase in platelet-derived growth factor receptor α (PDGFRα) and laminin beta 1 (LAMB1) expression. PDGFRα has been reported to induce de novo synthesis of LAMB1 protein in a Sjogren syndrome antigen B (La/SSB)-dependent manner in a murine metastasis model. However, the role of this cascade in human HCC remains unclear. This study focused on the functional role of the PDGFRα-La/SSB-LAMB1 pathway and its molecular link to K19 expression in human HCC...
August 7, 2017: Oncogene
https://www.readbyqxmd.com/read/28781105/adult-s-onset-still-disease-occurring-during-pregnancy-case-report-and-literature-review
#17
Léo Plaçais, Arsène Mekinian, Marie Bornes, Armelle Poujol-Robert, Naiké Bigé, Eric Maury, Olivier Fain
INTRODUCTION: Adult onset Still's disease is a rare affection classified among non-hereditary autoinflammatory diseases. We here report a case of AOSD revealed during pregnancy with a life-threatening presentation along with a review of 19 cases from literature. CASE: A 38-years old woman was treated in our department for diffuse systemic sclerosis and associated Sjögren syndrome. She was pregnant and presented with acute fever and arthralgias. Laboratory data revealed mild liver cytolysis but a large screening for infectious and auto-immune diseases was negative and hepato-biliar imaging was normal...
July 10, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28774657/prevalence-of-rheumatic-diseases-in-adult-population-in-spain-episer-2016-study-aims-and-methodology
#18
Daniel Seoane-Mato, Carlos Sánchez-Piedra, Lucía Silva-Fernández, Francisca Sivera, Francisco J Blanco, Fernando Pérez Ruiz, Antonio Juan-Mas, José M Pego-Reigosa, Javier Narváez, Neus Quilis Martí, Raúl Cortés Verdú, Fred Antón-Pagés, Víctor Quevedo Vila, Gustavo Añez Sturchio, Fermín Medina Varo, María Del Mar Ruiz Tudela, Antonio Romero Pérez, Javier Ballina, Anahy Brandy García, Dolores Fábregas Canales, Teresa Font Gayá, Carolina Bordoy Ferrer, Beatriz González Álvarez, Laura Casas Hernández, Fátima Álvarez Reyes, Mónica Delgado Sánchez, Cristina Martínez Dubois, Simón Ángel Sánchez-Fernández, Luisa Marena Rojas Vargas, Paula Virginia García Morales, Alejandro Olivé, Paula Rubio Muñoz, Marta Larrosa, Noemí Navarro Ricos, Eduard Graell Martín, Eugenio Chamizo, Lara Chaves Chaparro, Sara Rojas Herrera, Jordi Pons Dolset, Miguel Ángel Polo Ostariz, Susana Ruiz-Alejos Garrido, Cristina Macía Villa, Ana Cruz Valenciano, María Luisa González Gómez, Mercedes Morcillo Valle, Deseada Palma Sánchez, María José Moreno Martínez, Marta Mayor González, Joana Atxotegi Sáenz de Buruaga, Irati Urionagüena Onaindia, Boris Anthony Blanco Cáceres, Federico Díaz-González, Sagrario Bustabad
AIMS: To describe the methodology of the EPISER 2016 (study of the prevalence of rheumatic diseases in adult population in Spain), as well its strengths and limitations. The aim of this study is to estimate the prevalence of rheumatoid arthritis (RA), psoriatic arthritis (PsA), ankylosing spondylitis (AS), systemic lupus erythematosus (SLE), Sjögren's syndrome (SS), osteoarthritis (knee, hip, hands, and cervical and lumbar spine), fibromyalgia, gout and clinical osteoporotic fracture...
July 31, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/28774458/ultrasound-in-arthritis
#19
REVIEW
Iwona Sudoł-Szopińska, Claudia Schueller-Weidekamm, Athena Plagou, James Teh
Ultrasound is currently performed in everyday rheumatologic practice. It is used for early diagnosis, to monitor treatment results, and to diagnose remission. The spectrum of pathologies seen in arthritis with ultrasound includes early inflammatory features and associated complications. This article discusses the spectrum of ultrasound features of arthritides seen in rheumatoid arthritis and other connective tissue diseases in adults, such as Sjögren syndrome, lupus erythematosus, dermatomyositis, polymyositis, and juvenile idiopathic arthritis...
September 2017: Radiologic Clinics of North America
https://www.readbyqxmd.com/read/28770708/the-interaction-between-anti-ro-ssa-and-anti-la-ssb-autoantibodies-and-anti-infectious-antibodies-in-a-wide-spectrum-of-auto-immune-diseases-another-angle-of-the-autoimmune-mosaic
#20
Nancy Agmon-Levin, Amir Dagan, Yogev Peri, Juan-Manuel Anaya, Carlo Selmi, Angela Tincani, Nicola Bizzaro, Ljudmila Stojanovich, Jan Damoiseaux, Jan Willem Cohen Tervaert, Marta Mosca, Ricard Cervera, Yehuda Shoenfeld
OBJECTIVES: The presence of anti-Ro/SSA and anti-La/SSB antibodies has been linked with autoimmunity in general and with several autoimmune diseases (AID) in particular. In the current study we evaluated these antibodies in a wide spectrum of AID as well as the links between them and anti-infectious antibodies. METHODS: We examined 2082 sera from patients with 16 different AID compared to 524 sera from geographically-matched healthy controls, for the presence and titres of anti-Ro/SSA and anti-La/SSB...
July 6, 2017: Clinical and Experimental Rheumatology
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