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Raynauds syndrome

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https://www.readbyqxmd.com/read/28429690/-our-experience-in-the-diagnosis-and-treatment-of-postural-orthostatic-tachycardia-syndrome-vasovagal-syncope-and-inappropriate-sinus-tachycardia-in-children
#1
Sezen Ugan Atik, Reyhan Dedeoğlu, Aida Koka, Funda Öztunç
OBJECTIVES: The aim of this study was to share our experience in the diagnosis and treatment of patients who presented at our clinic with syncope, pre-syncope, dizziness, and palpitations. STUDY DESIGN: Patients who were treated at pediatric cardiology clinic for complaints of syncope, dizziness, and palpitations between 2014 and 2016 were enrolled in the study. Detailed history of the patients, physical examination findings, laboratory and electrocardiogram results were recorded...
April 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28420047/organ-damage-accrual-and-distribution-in-systemic-lupus-erythematosus-patients-followed-up-for-more-than-10-years
#2
M Taraborelli, I Cavazzana, N Martinazzi, M Grazia Lazzaroni, M Fredi, L Andreoli, F Franceschini, A Tincani
Objective The aim of this study was to determine the prevalence, predictors and progression of organ damage in a monocentric cohort of systemic lupus erythematosus patients with a long follow-up. Organ damage was assessed by the Systemic Lupus International Collaborating Clinics Damage Index one year after diagnosis and every five years. Disease activity was measured by the systemic lupus erythematosus disease activity index (SLEDAI)-2K at the beginning of the follow-up. Univariate and multivariable analyses were used to detect items associated with damage...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28417151/a-review-of-the-role-and%C3%A2-clinical-utility-of-anti-ro52-trim21-in-systemic-autoimmunity
#3
REVIEW
Adrian Y S Lee
Anti-Ro52/tripartite motif-containing 21 (TRIM21) is a ubiquitous antibody found in a number of systemic autoimmune conditions including Sjögren's syndrome, systemic lupus erythematosus and systemic sclerosis, appearing in about half of these patients. Once coupled with its closely related antibody, anti-Ro60 as the anti-SSA antibody, anti-Ro52 is emerging as a unique antibody with direct pathogenic disease involvement and distinct clinical properties. As a result, recent attention has turned to this antibody and its clinical associations and utility...
April 17, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28391171/a-two-scale-modeling-and-computational-framework-for-vibration-induced-raynaud-syndrome
#4
Yue Hua, Pierre Lemerle, Jean-François Ganghoffer
Hand-Arm Vibration syndrome (HAVS), usually caused by long-term use of hand-held power tools, can in certain manifestations alter the peripheral blood circulation in the hand-arm region. HAVS typically occurs after exposure to cold, causing an abnormally strong vasoconstriction of blood vessels. A pathoanatomical mechanism suggests that a reduction of the lumen of the blood vessels in VWF (Vibration White Finger) subjects, due to either hypertrophy or thickening of the vessel wall, may be at the origin of the disease...
March 28, 2017: Journal of the Mechanical Behavior of Biomedical Materials
https://www.readbyqxmd.com/read/28344932/mutation-in-tnxb-gene-causes-moderate-to-severe-ehlers-danlos-syndrome
#5
Carolyn S Kaufman, Merlin G Butler
We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud's phenomenon, and hypermobility. She was found to have a 6074A > T nucleotide transition in the TNXB gene causing an amino acid protein change at Asp2025Val classified as likely pathogenic. We add this clinical report to the literature and classical human disease gene catalogs to identify this specific mutation as disease-causing. This gene variant was reported previously in a different 36-year-old patient who shared our patient's symptoms of joint hypermobility, skeletal and joint pain, skin elasticity and musculoskeletal problems, thereby causing a more severe presentation than seen in the hypermobility type of Ehlers-Danlos syndrome (EDS)...
May 27, 2016: World Journal of Medical Genetics
https://www.readbyqxmd.com/read/28303481/morphea-and-eosinophilic-fasciitis-an-update
#6
REVIEW
Jorre S Mertens, Marieke M B Seyger, Rogier M Thurlings, Timothy R D J Radstake, Elke M G J de Jong
Morphea, also known as localized scleroderma, encompasses a group of idiopathic sclerotic skin diseases. The spectrum ranges from relatively mild phenotypes, which generally cause few problems besides local discomfort and visible disfigurement, to subtypes with severe complications such as joint contractures and limb length discrepancies. Eosinophilic fasciitis (EF, Shulman syndrome) is often regarded as belonging to the severe end of the morphea spectrum. The exact driving mechanisms behind morphea and EF pathogenesis remain to be elucidated...
March 16, 2017: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/28292796/hand-arm-vibration-syndrome-what-family-physicians-should-know
#7
REVIEW
Shixin Cindy Shen, Ronald A House
OBJECTIVE: To provide family physicians with an understanding of the epidemiology, pathogenesis, symptoms, diagnosis, and management of hand-arm vibration syndrome (HAVS), an important and common occupational disease in Canada. SOURCES OF INFORMATION: A MEDLINE search was conducted for research and review articles on HAVS. A Google search was conducted to obtain gray literature relevant to the Canadian context. Additional references were obtained from the articles identified...
March 2017: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/28256352/post-traumatic-raynaud-s-phenomenon-a-case-report
#8
Liang Jie Cheok, Chee Kheong Ooi
BACKGROUND: Raynaud's phenomenon has multiple etiologies, ranging from occupational causes to systemic disease. Most occupational causes of Raynaud's phenomenon usually present with vascular compromise. CASE REPORT: A 41-year-old Chinese woman presented to the emergency department with progressive pain and bluish discoloration over her right index finger after minor trauma. The clinical examination revealed discoloration over multiple fingertips on both hands. She was diagnosed with Raynaud's phenomenon with possible underlying systemic disease...
February 27, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28147261/clinical-follow-up-predictors-of-disease-pattern-change-in-anti-jo1-positive-anti-synthetase-syndrome-results-from-a-multicenter-international-and-retrospective-study
#9
REVIEW
Elena Bartoloni, Miguel A Gonzalez-Gay, Carlo Scirè, Santos Castaneda, Roberto Gerli, Francisco Javier Lopez-Longo, Julia Martinez-Barrio, Marcello Govoni, Federica Furini, Trinitario Pina, Florenzo Iannone, Margherita Giannini, Laura Nuño, Luca Quartuccio, Norberto Ortego-Centeno, Alessia Alunno, Christopher Specker, Carlomaurizio Montecucco, Konstantinos Triantafyllias, Silvia Balduzzi, Walter Alberto Sifuentes-Giraldo, Giuseppe Paolazzi, Elena Bravi, Andreas Schwarting, Raffaele Pellerito, Alessandra Russo, Carlo Selmi, Lesley-Ann Saketkoo, Enrico Fusaro, Simone Parisi, Nicolò Pipitone, Franco Franceschini, Ilaria Cavazzana, Rossella Neri, Simone Barsotti, Veronica Codullo, Lorenzo Cavagna
OBJECTIVE: Arthritis, myositis and interstitial lung disease (ILD) constitute the classic clinical triad of anti-synthetase syndrome (ASSD). These patients experience other accompanying features, such as Raynaud's phenomenon, fever or mechanic's hands. Most ASSD patients develop the complete triad during the follow-up. In the present study we aimed to determine whether the subsequent appearance of accompanying features may suggest the development of triad findings lacking at the onset in anti-Jo1 positive ASSD patients...
March 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28053878/microparticle-subpopulations-are-potential-markers-of-disease-progression-and-vascular-dysfunction-across-a-spectrum-of-connective-tissue-disease
#10
E M McCarthy, D Moreno-Martinez, F L Wilkinson, N J McHugh, I N Bruce, J D Pauling, M Y Alexander, B Parker
OBJECTIVE: Microparticles (MPs) are membrane-bound vesicles derived from vascular and intravascular cells such as endothelial cells (EMPs) and platelets (PMPs). We investigated EMP and PMP numbers across a spectrum of autoimmune rheumatic diseases (AIRDs) with the aim of comparing the levels of, and relationship between, EMPs and PMPs. METHODS: Patients with Systemic Lupus Erythematosus (SLE) (n = 24), Systemic Sclerosis (SSc) (n = 24), Primary Raynauds Phenomenon (RP) (n = 17) and "other CTD" (n = 15) (Primary Sjogrens Syndrome, UCTD or MCTD) as well as 15 healthy controls were recruited...
June 2017: BBA Clinical
https://www.readbyqxmd.com/read/28024309/stroke-as-initial-manifestation-of-adenosine-deaminase-2-deficiency
#11
Miriam Elbracht, Michael Mull, Norbert Wagner, Christiane Kuhl, Angela Abicht, Ingo Kurth, Klaus Tenbrock, Martin Häusler
Deficiency of adenosine deaminase 2 (ADA2) due to homozygous or compound heterozygous mutations in the cat eye syndrome chromosome region, candidate 1 (CECR1) gene causes an autoimmune phenotype with systemic vasculitis affecting the skin, inner organs, and the central nervous system. Typically, stroke has been reported to follow systemic inflammatory disease and predominantly affects posterior and central brain areas. Here, we describe one of the rare patients in whom acute mesencephalic stroke preceded systemic inflammation and presented as initial clinical symptom...
April 2017: Neuropediatrics
https://www.readbyqxmd.com/read/27931961/imaging-of-connective-tissue-diseases-beyond-visceral-organ-imaging
#12
REVIEW
Maurizio Cutolo, Nemanja Damjanov, Barbara Ruaro, Ana Zekovic, Vanessa Smith
Connective tissues diseases (CTDs) can also be diagnosed early by "external" and safe imaging methods beyond the visceral organ analysis. This study aims to explore various imaging techniques used in diagnosing CTDs. Skin impairment in systemic sclerosis (SSc) may be recognized and studied by the modified Rodnan skin score (mRSS), which has some drawbacks, whereas high-frequency ultrasound (US) seems advantageous for the early identification of skin involvement. Salivary gland involvement in Sjögren syndrome (SS) can be assessed using standard tests such as unstimulated salivary flow test, salivary gland scintigraphy or contrast sialography...
August 2016: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/27885347/fludarabine-treatment-of-patient-with-chronic-lymphocytic-leukemia-induces-a-digital-ischemia
#13
Utku Erdem Soyaltin, Deniz Yuce Yildirim, Mustafa Yildirim, Mehmet Can Ugur, Ferhat Ekinci, Cengiz Ceylan, Harun Akar
We report a 63-year-old man with a history of chronic lymphocytic leukemia (CLL) who presented with asymmetrical Raynaud's phenomenon of sudden onset which progressed to acral gangrene rapidly in a week. These symptoms began approximately one week after the fourth cycle of fludarabine and cyclophosphamide chemotherapy and were accompanied by pain, numbness, and cyanosis in the fingers of his right hand except the first finger. Fludarabine may play a role in acral vascular syndrome. The treatment with fludarabine in patients with evolving digital ischemia should be carried out with caution...
2016: Case Reports in Hematology
https://www.readbyqxmd.com/read/27856460/architectural-and-functional-heterogeneity-of-hematopoietic-stem-progenitor-cells-in-non-del-5q-myelodysplastic-syndromes
#14
Virginie Chesnais, Marie-Laure Arcangeli, Caroline Delette, Alice Rousseau, Hélène Guermouche, Carine Lefevre, Sabrina Bondu, M'boyba Diop, Meyling Cheok, Nicolas Chapuis, Laurence Legros, Sophie Raynaud, Lise Willems, Didier Bouscary, Evelyne Lauret, Olivier A Bernard, Olivier Kosmider, Françoise Pflumio, Michaela Fontenay
Myelodysplastic syndromes (MDSs) are hematopoietic stem cell disorders in which recurrent mutations define clonal hematopoiesis. The origin of the phenotypic diversity of non-del(5q) MDS remains unclear. Here, we investigated the clonal architecture of the CD34(+)CD38(-) hematopoietic stem/progenitor cell (HSPC) compartment and interrogated dominant clones for MDS-initiating cells. We found that clones mainly accumulate mutations in a linear succession with retention of a dominant subclone. The clone detected in the long-term culture-initiating cell compartment that reconstitutes short-term human hematopoiesis in xenotransplantation models is usually the dominant clone, which gives rise to the myeloid and to a lesser extent to the lymphoid lineage...
January 26, 2017: Blood
https://www.readbyqxmd.com/read/27855276/detection-of-calr-and-mpl-mutations-in-low-allelic-burden-jak2-v617f-essential-thrombocythemia
#15
Fabrice Usseglio, Nathalie Beaufils, Anne Calleja, Sophie Raynaud, Jean Gabert
Myeloproliferative neoplasms are clonal hematopoietic stem cell disorders characterized by aberrant proliferation and an increased tendency toward leukemic transformation. The genes JAK2, MPL, and CALR are frequently altered in these syndromes, and their mutations are often a strong argument for diagnosis. We analyzed the mutational profiles of these three genes in a cohort of 164 suspected myeloproliferative neoplasms. JAK2 V617F mutation was detected by real-time PCR, whereas high-resolution melting analysis followed by Sanger sequencing were used for searching for mutations in JAK2 exon 12, CALR, and MPL...
January 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/27833984/a-case-of-a-generalized-symptomatic-calcinosis-in-systemic-sclerosis
#16
Cristian Radu Jecan, Ştefan Iulian Bedereag, Ruxandra Diana Sinescu, Valentin Titus Grigorean, Cristina Nicoleta Cozma, Anca Bordianu, Ioan Petre Florescu
Calcinosis consists of abnormal calcium deposition in soft tissues, which appears often in patients with limited systemic sclerosis, being one of the criteria of CREST (calcinosis cutis, Raynaud phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia) syndrome. With a long evolution, the aim of the treatment is to control the symptoms and prevent complications. In this article, we present the challenging management of a profuse lesion of calcinosis in a patient with systemic sclerosis. We describe the case of a 52-year-old woman with systemic sclerosis and CREST syndrome who was admitted in our Department with multiple painful and disabling tumoral masses, situated in nearly all joints...
2016: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/27828653/syndrome-in-question-antisynthetase-syndrome-anti-pl-7
#17
Ana Cláudia Cavalcante Esposito, Tatiana Cristina Gige, Hélio Amante Miot
Antisynthetase syndrome is a rare autoimmune disease characterized by interstitial lung disease and/or inflammatory myositis, with positive antisynthetase antibodies (anti-Jo-1, anti-PL-7, anti-PL-12, ZO, OJ, anti-KE or KS). Other symptoms described include: non-erosive arthritis, fever, Raynaud's phenomenon, and "mechanic's hands." The first therapeutic option is corticotherapy, followed by other immunosuppressants. The prognosis of the disease is quite limited when compared to other inflammatory myopathies with negative antisynthetase antibodies...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/27799439/systemic-lupus-erythematosus-in-spanish-males-a-study-of-the-spanish-rheumatology-society-lupus-registry-relesser-cohort
#18
A Riveros Frutos, I Casas, I Rúa-Figueroa, F J López-Longo, J Calvo-Alén, M Galindo, A Fernández-Nebro, J M Pego-Reigosa, A Olivé Marqués
Objective The objective of this study was to describe the demographic, clinical, and immunological manifestations of systemic lupus erythematosus (SLE) in male patients. Methods A cross-sectional, multicenter study was carried out of 3651 patients (353 men, 9.7%, and 3298 women, 90.2%) diagnosed with SLE, included in the Spanish Rheumatology Society SLE Registry (RELESSER). Results Mean ages (18-92 years) of symptom onset were 37 (SD 17) years (men) and 32 (SD 14) years (women). Male/female ratio was 1/9. Age of onset of symptoms and age at diagnosis were higher in men than in women ( p < 0...
January 1, 2016: Lupus
https://www.readbyqxmd.com/read/27727416/hammarsjuka-%C3%A3-r-ovanligt-%C3%A2-eller-bara-ett-ovanligt-f%C3%A3-rbisett-tillst%C3%A3-nd-effektiv-behandling-finns-%C3%A2-sk%C3%A3-rpt-differentialdiagnostik-%C3%A3-r-motiverad
#19
Anders Seldén, Fatin Hermiz, Bengt Östlund
Hypothenar hammer syndrome is a possibly underdiagnosed but treatable cause of Raynaud's phenomenon and hand ischemia elicited by thombosis or aneurysm secondary to acute or chronic blunt trauma to the ulnar artery at the level of Guyon's canal. This paper provides a summary of the condition with some emphasis on prophylactic and therapeutic aspects.
October 7, 2016: Läkartidningen
https://www.readbyqxmd.com/read/27704312/prediction-of-antiphospholipid-syndrome-using-annexin-a5-competition-assay-in-patients-with-sle
#20
Avital Avriel, Stela Fleischer, Michael Friger, Ora Shovman, Gal Neuman, Yehuda Shoenfeld, Mahmoud Abu-Shakra
A significantly high correlation between reduced activity of Annexin A5 by the flow cytometric assay (FCA) and the diagnosis of antiphospholipid syndrome (APS) has been reported. The aim of this study was to assess the clinical and laboratory significance of the Annexin A5 competition assay among patients with systemic lupus erythematosus (SLE). The FCA competition assay was performed on blood samples from 57 consecutive SLE patients. The FCA was performed according to a previously validated method. Forty-seven patients (82...
December 2016: Clinical Rheumatology
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