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Raynaud syndrome

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https://www.readbyqxmd.com/read/29774953/dermoscopic-patterns-of-filiform-papillae-of-the-tongue-in-patients-with-and-without-connective-tissue-autoimmune-diseases
#1
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/29732705/persistent-acrocyanosis-a-rare-manifestation-revealing-anti-pl12-syndrome
#2
Philippe Mertz, Mathilde Herber, Juliette Jeannel, Anne-Sophie Korganow, Aurélien Guffroy
A 69-year-old woman with asthenia, anorexia and weight loss lasting for several weeks was referred for a subacute onset of painful permanent acrocyanosis of the four extremities without Raynaud's phenomenon. She also had concomitantly developed grade I/IV (NYHA) dyspnea. A physical examination revealed livedoid acrocyanosis of distal phalanges of the hands (Fig. 1A), which was associated with flame-shaped hemorrhages (Fig. 1B, arrow-head), dilated capillaries at the proximal nailfolds (Fig. 1B, arrow), Gottron's sign over the MCP and PIP joints and a discrete heliotrope rash with a palpable V-shaped rash of the upper chest and forehead...
May 6, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29728705/pathogenic-variants-in-e3-ubiquitin-ligase-rlim-rnf12-lead-to-a-syndromic-x-linked-intellectual-disability-and-behavior-disorder
#3
Suzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, Ute Grasshoff, Bas de Hoon, Michael Field, Sylvie Manouvrier-Hanu, Scott E Hickey, Molka Kammoun, Karen W Gripp, Claudia Bauer, Christopher Schroeder, Annick Toutain, Theresa Mihalic Mosher, Benjamin J Kelly, Peter White, Andreas Dufke, Eveline Rentmeester, Sungjin Moon, Daniel C Koboldt, Kees E P van Roozendaal, Hao Hu, Stefan A Haas, Hans-Hilger Ropers, Lucinda Murray, Eric Haan, Marie Shaw, Renee Carroll, Kathryn Friend, Jan Liebelt, Lynne Hobson, Marjan De Rademaeker, Joep Geraedts, Jean-Pierre Fryns, Joris Vermeesch, Martine Raynaud, Olaf Riess, Joost Gribnau, Nicholas Katsanis, Koen Devriendt, Peter Bauer, Jozef Gecz, Christelle Golzio, Cristina Gontan, Vera M Kalscheuer
RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice. We report the genetic and clinical findings of 84 individuals from nine unrelated families, eight of whom who have pathogenic variants in RLIM (RING finger LIM domain-interacting protein). A total of 40 affected males have X-linked intellectual disability (XLID) and variable behavioral anomalies with or without congenital malformations...
May 4, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29728522/muscular-and-extramuscular-clinical-features-of-patients-with-anti-pm-scl-autoantibodies
#4
Rebecca De Lorenzo, Iago Pinal-Fernandez, Wilson Huang, Jemima Albayda, Eleni Tiniakou, Cheilonda Johnson, Jose C Milisenda, Maria Casal-Dominguez, Andrea M Corse, Sonye K Danoff, Lisa Christopher-Stine, Julie J Paik, Andrew L Mammen
OBJECTIVE: To define the clinical features of myositis patients with anti-PM/Scl-75 and/or anti-PM/Scl-100 autoantibodies at disease onset and during the course of disease and compare them to patients with other forms of myositis. METHODS: In this longitudinal cohort study, the prevalence and severity of clinical features at disease onset and during follow-up were compared between anti-PM/Scl-positive patients and those with the antisynthetase syndrome (AS), dermatomyositis (DM), and immune-mediated necrotizing myopathy (IMNM)...
May 4, 2018: Neurology
https://www.readbyqxmd.com/read/29658213/successful-use-of-a-reduced-dose-regimen-of-rituximab-in-a-case-of-rheumatoid-arthritis-with-raynaud-s-syndrome
#5
Raifa Ivanova, Maya Goremykina, Natalya Glushkova, Sandro Vento
No abstract text is available yet for this article.
January 2018: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/29624870/characteristics-and-risk-factors-of-pulmonary-arterial-hypertension-in-patients-with-primary-sj%C3%A3-gren-s-syndrome
#6
Shumin Yan, Mengtao Li, Hui Wang, Xiaoxi Yang, Jiuliang Zhao, Qian Wang, Yongtai Liu, Jinzhi Lai, Zhuang Tian, Hui Song, Yan Zhao, Xiaofeng Zeng
AIM: To describe baseline characteristics of patients with primary Sjögren's syndrome (pSS) with right heart catheterization (RHC)-confirmed pulmonary arterial hypertension (PAH) and explore risk factors for PAH in pSS. METHODS: This case-control study included consecutive patients hospitalized with pSS-PAH from 2007 to 2015, and pSS patients without PAH (in a 4 : 1 ratio) as controls. All patients fulfilled the 2002 American-European Consensus Group classification criteria for pSS-PAH was defined according to RHC-based European Society of Cardiology/European Respiratory Society guidelines...
April 6, 2018: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29618507/further-delineation-of-the-mecp2-duplication-syndrome-phenotype-in-59-french-male-patients-with-a-particular-focus-on-morphological-and-neurological-features
#7
Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thevenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remerand, Christine Francannet, Fanny Laffargue, Odile Boespflug-Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laetitia Lambert, Christophe Philippe, Mylène Béri-Dexheimer, Jean-Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier-Daire, Marlene Rio, Jean-Paul Bonnefont, Bernard Echenne, Hubert Journel, Lydie Burglen, Sandrine Chantot-Bastaraud, Thierry Bienvenu, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre-Simon Jouk, Klaus Dieterich, Françoise Devillard, Didier Lacombe, Nicole Philip, Sabine Sigaudy, Anne Moncla, Chantal Missirian, Catherine Badens, Nathalie Perreton, Christel Thauvin-Robinet, Réseau AChro-Puce, Jean-Michel Pedespan, Caroline Rooryck, Cyril Goizet, Catherine Vincent-Delorme, Bénédicte Duban-Bedu, Nadia Bahi-Buisson, Alexandra Afenjar, Kim Maincent, Delphine Héron, Jean-Luc Alessandri, Dominique Martin-Coignard, Gaëtan Lesca, Massimiliano Rossi, Martine Raynaud, Patrick Callier, Anne-Laure Mosca-Boidron, Nathalie Marle, Charles Coutton, Véronique Satre, Cédric Le Caignec, Valérie Malan, Serge Romana, Boris Keren, Anne-Claude Tabet, Valérie Kremer, Sophie Scheidecker, Adeline Vigouroux, Marilyn Lackmy-Port-Lis, Damien Sanlaville, Marianne Till, Maryline Carneiro, Brigitte Gilbert-Dussardier, Marjolaine Willems, Hilde Van Esch, Vincent Des Portes, Salima El Chehadeh
The Xq28 duplication involving the MECP2 gene ( MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have been published. We aimed to better describe the phenotype of this condition, with a focus on morphological and neurological features. Through a national collaborative study, we report a large French series of 59 affected males with interstitial MECP2 duplication...
April 4, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29599028/phenotypic-characterization-of-patients-with-rheumatologic-manifestations-of-common-variable-immunodeficiency
#8
Maria J Gutierrez, Kathleen E Sullivan, Ramsay Fuleihan, Clifton O Bingham
Patients with common variable immunodeficiency (CVID) have a higher incidence of rheumatologic disorders. To delineate this clinical association, we investigated the phenotypic features of patients with CVID affected by these conditions. METHODS: We conducted a retrospective analysis of 870 pediatric and adult patients with CVID included in the United States Immunodeficiency Network (USIDNET) registry. Outcomes included clinical characteristics (age, gender, ethnicity, rheumatologic diagnosis, and comorbidities), infectious history and basic immunophenotype (serum immunoglobulin levels, CD19+ B cells, and CD4/CD8 ratio) in patients with CVID and rheumatologic disorders compared to those with non-inflammatory CVID...
February 23, 2018: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/29579358/a-22-year-old-woman-with-systemic-lupus-erythematosus-presents-with-two-damaged-kidneys-one-seizure-no-platelets-and-many-possible-diagnoses
#9
Lisa Zickuhr, Leal C Herlitz, Soumya Chatterjee
A 22-year-old woman with a history of systemic lupus erythematosus (SLE) was admitted with progressive edema. Two years before hospitalization, a local rheumatologist diagnosed her with SLE based on a syndrome of oral ulcers, inflammatory arthritis, discoid lupus lesions, and Raynaud phenomenon. Serum analysis revealed high-titer anti-nuclear antibodies, the presence of anti-SSA, anti-SSB, anti-Smith, anti-RNP, anti-histone, and anti-double-stranded DNA antibodies, and low complement (C3 and C4) levels. Hydroxychloroquine and topical clobetasol ointment were started...
March 26, 2018: Arthritis Care & Research
https://www.readbyqxmd.com/read/29535097/a-case-of-tricuspid-valve-non-bacterial-thrombotic-endocarditis-presenting-as-pulmonary-embolism-in-a-patient-with-antiphospholipid-antibody-syndrome
#10
Dileep Unnikrishnan, Nasreen Shaikh, Ahmad Sharayah, Chandler Patton
A 47-year-old woman with a medical history of Raynaud's phenomenon presented with fever, cough and shortness of breath. She was found to have left lower lobe consolidation and pleural effusion and was treated as a case of pneumonia. During the hospital course, her respiratory status worsened, and she was intubated on the third hospital day. To investigate the high A-a gradient, a Computerized Tomographic Pulmonary Embolism (CTPE) study was done which identified a large left lower pulmonary artery embolism. She was also found to have a new murmur, and an echocardiogram demonstrated a large lesion on tricuspid valve...
March 13, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29531773/unique-clinical-characteristics-autoantibodies-and-medication-use-in-native-american-patients-with-systemic-lupus-erythematosus
#11
Joseph M Kheir, Carla J Guthridge, Jonathon R Johnston, Lucas J Adams, Astrid Rasmussen, Timothy F Gross, Melissa E Munroe, Rebecka L Bourn, Kathy L Sivils, Joel M Guthridge, Michael H Weisman, Daniel J Wallace, Juan-Manuel Anaya, Adriana Rojas Villarraga, James N Jarvis, John B Harley, Judith A James
Objective: Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with varied morbidity and mortality. We assessed clinical presentations, autoantibody specificities and therapeutic interventions in Native American (NA) patients with SLE. Methods: Patients with SLE meeting 1997 American College of Rheumatology classification criteria (n=3148) were enrolled between 1992 and 2010 in the multiethnic, cross-sectional Lupus Family Registry and Repository...
2018: Lupus Science & Medicine
https://www.readbyqxmd.com/read/29525756/the-novel-use-of-botulinum-toxin-a-for-the-treatment-of-raynaud-s-phenomenon-in-the-toes
#12
Kiran Dhaliwal, Michelle Griffin, Christopher P Denton, Peter E M Butler
Raynaud's phenomenon is a vasospastic disorder of the digital vessels triggered by exposure to cold or stress. It is most commonly observed in the hands, but also frequently affects the toes. We present three cases of patients with severe Raynaud's phenomenon in the toes, secondary to scleroderma. The diagnosis of Raynaud's syndrome and scleroderma was established according to the 2010 American College of Rheumatology and European League Against Rheumatism criteria. Patients were treated with 10 units of botulinum toxin injected into each foot...
March 9, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29513922/reply
#13
LETTER
Anna Tjärnlund, Matteo Bottai, Ingrid E Lundberg
No abstract text is available yet for this article.
March 7, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29511800/hypothenar-hammer-syndrome-caused-by-a-muscle-anomaly-a-case-report-with-review-of-the-literature
#14
Lea Estermann, Pascal Ducommun, Isabelle Steurer-Dober, Urs Hug
The hypothenar hammer syndrome (HHS) is a rare entity of secondary Raynaud's phenomenon. The blunt hypothenar trauma causes a lesion of the vessel wall with a consecutive thrombosis or aneurysm of the ulnar artery at the Guyon's canal. Different risk factors are discussed such as nicotine abuse, or a muscle anomaly in the Guyon's canal. To date, there are five case reports published about muscle anomalies and HHS. We present a case of a 51-year-old shipbuilder with a unilateral HHS on his right dominant hand with a bilateral muscle anomaly...
May 2018: Archives of Orthopaedic and Trauma Surgery
https://www.readbyqxmd.com/read/29469721/lupus-and-scleroderma-overlap-features-in-a-28-year-old-man-with-anti-pl-12-anti-synthetase-syndrome
#15
Jasmine Rana, Andrea Primiani Moy, Adriano Piris, Gideon P Smith
A 28-year-old man with clinically and laboratory diagnosed anti-PL-12 anti-synthetase syndrome (AS) in 2009 developed cutaneous lupus lesions, discoid lupus lesions, and sclerodacytly with finger-tip ulcerations four years following his AS diagnosis. Laboratory tests including +ANA, +anti-dsDNA antibody, +anti-Smith antibody, and +anti-RNP antibody in 2014 confirmed the diagnosis of progression to an overlap syndrome including systemic lupus erythematosus. The patient now also has clinical findings (sclerodacytly, Raynaud phenomenon, finger-tip ulcerations) consistent with scleroderma overlap...
September 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29425538/-etiological-profile-of-secondary-raynaud-s-phenomenon-in-an-internal-medicine-department-about-121-patients
#16
T Ben Salem, M Tougorti, S Bziouech, M Lamloum, M Khanfir, I Ben Ghorbel, M H Houman
INTRODUCTION: Raynaud's phenomenon is a reversible episodic vasospastic disorder triggered by cold or emotion. Two types of Raynaud's phenomenon were distinguished: Raynaud's disease and secondary Raynaud's phenomenon. The purpose of this study was to determine the etiologic profile of secondary Raynaud's phenomenon in an internal medicine department. METHODS: A descriptive retrospective study including patients with secondary Raynaud's phenomenon followed in a tertiary internal medicine department between 2000 and 2013...
February 2018: Journal de Médecine Vasculaire
https://www.readbyqxmd.com/read/29390349/sj%C3%A3-gren-s-syndrome-manifesting-as-clinicopathological-features-of-tafro-syndrome-a-case-report
#17
Shino Fujimoto, Hiroshi Kawabata, Nozomu Kurose, Haruka Kawanami-Iwao, Tomoyuki Sakai, Takafumi Kawanami, Yoshimasa Fujita, Toshihiro Fukushima, Yasufumi Masaki
RATIONALE: TAFRO syndrome is a newly proposed disorder that manifests as thrombocytopenia, anasarca, fever, reticulin myelofibrosis, renal dysfunction, and organomegaly. In this report, we describe the development of severe TAFRO syndrome-like systemic symptoms during the clinical course of juvenile-onset Sjögren's syndrome in a 32-year-old woman. PATIENT CONCERNS: The patient was admitted due to dyspnea, fever, polyarthralgia, and generalized edema. She had been diagnosed with Sjögren's syndrome at the age of 14 years, based on histopathological examination of a biopsy of the minor salivary glands and the development of Raynaud's phenomenon, with no follow-up treatment required...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29338587/antiphosphatidylserine-prothrombin-aps-pt-antibodies-are-associated-with-raynaud-phenomenon-and-migraine-in-primary-thrombotic-antiphospholipid-syndrome
#18
M Kopytek, J Natorska, A Undas
Objectives Antibodies to phosphatidylserine/prothrombin complex (aPS/PT) detectable in sera of some patients with antiphospholipid syndrome (APS) have been shown to correlate with thrombosis. However, associations of aPS/PT antibodies with APS related disorders remain unclear. Aim To evaluate whether there are any associations between aPS/PT antibodies and Raynaud phenomenon, migraine and/or valvular lesions in primary thrombotic APS (PAPS). Methods We enrolled 67 consecutive patients (56 women) with thrombotic PAPS (VTE in 80...
April 2018: Lupus
https://www.readbyqxmd.com/read/29333800/successful-use-of-a-reduced-dose-regimen-of-rituximab-in-a-case-of-rheumatoid-arthritis-with-raynaud-s-syndrome
#19
Raifa Ivanova, Maya Goremykina, Natalya Glushkova, Sandro Vento
No abstract text is available yet for this article.
January 2018: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/29299961/erythromelalgia
#20
REVIEW
Peter Franz Klein-Weigel, Theresa Sophie Volz, Jutta Gisela Richter
Erythromelalgia is a rare syndrome characterized by the intermittent or, less commonly, by the permanent occurrence of extremely painful hyperperfused skin areas mainly located in the distal extremities. Primary erythromelalgia is nowadays considered to be a genetically determined neuropathic disorder affecting SCN9A, SCN10A, and SCN11A coding for NaV1.7, NaV1.8, and NaV1.9 neuronal sodium channels. Secondary forms might be associated with myeloproliferative disorders, connective tissue disease, cancer, infections, and poisoning...
February 2018: VASA. Zeitschrift Für Gefässkrankheiten
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