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Raynauds syndrome

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
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...
October 4, 2016: Clinical Rheumatology
F Roca, S Dominique, J Schmidt, A Smail, P Duhaut, H Lévesque, I Marie
Interstitial lung disease (ILD) has been reported in 3 to 11% of patients with primary Sjögren's syndrome (pSS). The aims of this retrospective multicenter study were to: 1) analyze characteristics and outcome of ILD in pSS; and 2) evaluate predictive factors associated with ILD onset and deterioration. Twenty-one of 263 patients with pSS (8%) developed ILD. ILD onset preceded pSS diagnosis (n=5), was concurrently identified in association with pSS (n=6) and developed after pSS onset (n=9). Presenting ILD manifestations were: acute/subacute (n=11) onset of ILD, symptomatic progressive onset of ILD (n=5), and asymptomatic patients exhibiting abnormalities consistent with ILD on PFTs and HRCT-scan (n=5)...
September 25, 2016: Autoimmunity Reviews
Akiko Takeuchi, Takashi Matsushita, Kenzo Kaji, Yoshinobu Okamoto, Masahide Yasui, Masayoshi Hirata, Naoto Oishi, Akira Higashi, Mariko Seishima, Tomoya Asano, Manabu Fujimoto, Masataka Kuwana, Kazuhiko Takehara, Yasuhito Hamaguchi
OBJECTIVE: To identify and characterize a novel connective tissue disease (CTD)-related autoantibody (autoAb) directed against scaffold attachment factor B (SAFB). METHODS: AutoAb specificity was analyzed using RNA and protein-immunoprecipitation assays. Autoimmune targets were affinity purified using patients' sera and subjected to liquid chromatography mass spectrometry. RESULTS: By immunoprecipitation assay, 10 sera reacted with a protein with a molecular weight of approximately 160 kDa...
September 24, 2016: Journal of Autoimmunity
Carolin Zwadlo, Jürgen Borlak
Calcium channel blockers (CCB) differ in their effects on the cardiovascular system with diltiazem being less negatively ionotrop as compared to verapamil. Diltiazem is mainly used to treat supraventricular tachycardia, vasospastic angina and the Raynaud's syndrome. Little is known about the molecular effects of benzothiazepins on cardiac gene expression. We therefore investigated the effects of diltiazem on cardiac gene expression in normotensive and hypertensive rats with left ventricular hypertrophy and compared the results with our previous findings on verapamil and nifedipine...
September 6, 2016: Vascular Pharmacology
Kevin Yarbrough, Calida Danko, Alfons Krol, Jonathan Zonana, Sabra Leitenberger
Aicardi-Goutières syndrome (AGS) is classically characterized by early-onset encephalopathy. However, in some cases, the presenting symptom of concern may actually be cutaneous rather than neurological, leading to the misdiagnosis of the condition. We report the case of three teenage siblings who presented with a lifetime history of chilblain lesions, only one of whom had notable neurologic deficits. Additional findings included acrocyanosis, Raynaud's phenomenon, low-pitch hoarse voice, headache, and arthritis...
September 8, 2016: American Journal of Medical Genetics. Part A
Anine H Stam, Parul H Kothari, Aisha Shaikh, Andreas Gschwendter, Joanna C Jen, Suzanne Hodgkinson, Todd A Hardy, Michael Hayes, Peter A Kempster, Katya E Kotschet, Ingeborg M Bajema, Sjoerd G van Duinen, Marion L C Maat-Schieman, Paulus T V M de Jong, Marc D de Smet, Didi de Wolff-Rouendaal, Greet Dijkman, Nadine Pelzer, Grant R Kolar, Robert E Schmidt, JoAnne Lacey, Daniel Joseph, David R Fintak, M Gilbert Grand, Elizabeth M Brunt, Helen Liapis, Rula A Hajj-Ali, Mark C Kruit, Mark A van Buchem, Martin Dichgans, Rune R Frants, Arn M J M van den Maagdenberg, Joost Haan, Robert W Baloh, John P Atkinson, Gisela M Terwindt, Michel D Ferrari
Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary endotheliopathy, retinopathy, nephropathy and stroke are neurovascular syndromes initially described as distinct entities. Recently they were shown to be one disease caused by C-terminal frame-shift mutations in TREX1, which was termed 'retinal vasculopathy with cerebral leukodystrophy'. Here we defined the genetic and clinicopathologic spectrum of this clinically and pathophysiologically poorly characterized and frequently misdiagnosed fatal neurovascular disorder...
September 6, 2016: Brain: a Journal of Neurology
Leah J Witt, James J Curran, Mary E Strek
Anti-synthetase syndrome is an autoimmune condition, characterized by antibodies directed against an aminoacycl transfer RNA synthetase along with clinical features that can include interstitial lung disease, myositis, Raynaud's phenomenon, and arthritis. There is a higher prevalence and increased severity of interstitial lung disease in patients with anti-synthetase syndrome, as compared to dermatomyositis and polymyositis, inflammatory myopathies with which it may overlap phenotypically. Diagnosis is made by a multidisciplinary approach, synthesizing rheumatology and pulmonary evaluations, along with serologic, radiographic, and occasionally muscle and/or lung biopsy results...
September 2016: Clinical Pulmonary Medicine
Serena Vettori, Rosaria Irace, Antonella Riccardi, Daniela Iacono, Luciana Pellecchia, Lucia Vicedomini, Gabriele Valentini
CXCL4 is an antiangiogenic and immunomodulatory chemokine. We aimed to investigate serum levels of CXCL4 in primary Sjögren's syndrome (pSS), looking for associations with disease features. Thirty-nine consecutive pSS patients underwent clinical-serological assessment and nailfold videocapillaroscopy (NVC). Thirty-six patients and 30 controls affected by osteoarthritis were also investigated for serum levels of CXCL4 and soluble E-selectin (sE-selectin). CXCL4 was higher in pSS patients than in controls (1...
October 2016: Clinical Rheumatology
Sevdalina N Lambova
Micro- and macrovascular pathology is a frequent finding in a number of common rheumatic diseases. Secondary Raynaud's phenomenon (RP) is among the most common symptoms in systemic sclerosis and several other systemic autoimmune diseases including a broad differential diagnosis. It should be also differential from other peripheral vascular syndromes such as embolism, thrombosis, etc., some of which lead to clinical manifestation of the blue toe syndrome. The current review discusses the instrumental methods for vascular assessments...
April 2016: Folia Medica
E E Palmer, T Stuhlmann, S Weinert, E Haan, H Van Esch, M Holvoet, J Boyle, M Leffler, M Raynaud, C Moraine, H van Bokhoven, T Kleefstra, K Kahrizi, H Najmabadi, H-H Ropers, M R Delgado, D Sirsi, S Golla, A Sommer, M P Pietryga, W K Chung, J Wynn, L Rohena, E Bernardo, D Hamlin, B M Faux, D K Grange, L Manwaring, J Tolmie, S Joss, J M Cobben, F A M Duijkers, J M Goehringer, T D Challman, F Hennig, U Fischer, A Grimme, V Suckow, L Musante, J Nicholl, M Shaw, S P Lodh, Z Niu, J A Rosenfeld, P Stankiewicz, T J Jentsch, J Gecz, M Field, V M Kalscheuer
Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed phenotypic information on 52 individuals from 16 families with CLCN4-related disorder: 5 affected females and 2 affected males with a de novo variant in CLCN4 (6 individuals previously unreported) and 27 affected males, 3 affected females and 15 asymptomatic female carriers from 9 families with inherited CLCN4 variants (4 families previously unreported)...
August 23, 2016: Molecular Psychiatry
Nedim Durmus, Sung-Hyun Park, Joan Reibman, Gabriele Grunig
PURPOSE OF REVIEW: Scleroderma and other autoimmune-induced connective tissue diseases are characterized by dysfunctions in the immune system, connective tissue and the vasculature. We are focusing on systemic sclerosis (SSc)-associated pulmonary hypertension, which remains a leading cause of death with only a 50-60% of 2-year survival rate. RECENT FINDINGS: Much research and translational efforts have been directed at understanding the immune response that causes SSc and the networked interactions with the connective tissue and the vasculature...
November 2016: Current Opinion in Rheumatology
Virginie Eclache, Marina Lafage-Pochitaloff, Christine Lefebvre, Dominique Penther, Sophie Raynaud, Isabelle Tigaud
The myelodysplastic syndromes (MDS) are preleukemic diseases of elderly patients characterized by defective maturation of clonal hematopoietic progenitor cells resulting in peripheral blood cytopenias. Clonal chromosomal abnormalities are heterogeneous and can be detected in less than 50% of patients with de novo MDS and more frequently in secondary MDS (up to 80%). The karyotype plays an important role in the pathogenesis, diagnosis, and prognosis to evaluate the risk of leukemic transformation and, more recently, in treatment allocation...
October 1, 2016: Annales de Biologie Clinique
Cătălin Vasilescu, Monica Salmen, Andrei Bobocea
Cervicothoracic Sympathectomy is a common indication in the treatment of Raynaud Syndrome, Palmer Hyperhidrosis or Acute Ischemia of the superior limb. Nonetheless, almost a century ago it represented one of the first innovative attempts in curing coronary heart disease. Nowadays, this indication is no more than a footnote in a volume on the History of Medicine, and a trivia fact for medical history enthusiasts. The operation's history is rather conflicting. A young Romaninan surgeon, Victor Gomoiu seems to have come up with the idea, in the early 20th century...
May 2016: Chirurgia
L C Meng, Y Li, W Zhang, H J Hao, F Gao, Y Yuan
OBJECTIVE: To report the clinical and myopathological features of 16 patients with Jo-1 syndrome. METHODS: Sixteen patients were recruited in this study, who were diagnosed as Jo-1 syndrome in Department of Neurology of Peking University First Hospital from January, 2011 to July, 2015. The clinical data and myopathological data were analyzed. RESULTS: The mean onset age was 41±14 (21-68) years old. 87.5% was female. The median duration was 9...
August 2, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Clare E Pain, Tamás Constantin, Natasa Toplak, Monica Moll, Christof Iking-Konert, Daniella P Piotto, Nuray Aktay Ayaz, Dana Nemcova, Peter H Hoeger, Maurizio Cutolo, Vanessa Smith, Ivan Foeldvari
OBJECTIVES: To develop recommendations for investigation and monitoring of children with Raynaud's syndrome, based on paediatric evidence collated by a systematic review. METHODS: A systematic review was undertaken to establish the paediatric evidence for assessment and monitoring of Raynaud's syndrome. An expert panel including members of the Paediatric Rheumatology European Society (PRES) Scleroderma Working Group, were invited to a consensus meeting where recommendations were developed based on evidence graded by the systematic review and where evidence was lacking, consensus opinion...
September 2016: Clinical and Experimental Rheumatology
Joseph E Cruz, Ashley Ward, Shannon Anthony, Susanna Chang, Hyun Billy Bae, Evelyn R Hermes-DeSantis
OBJECTIVE: To review the evidence for using intravenous (IV) epoprostenol to treat Raynaud's phenomenon (RP). DATA SOURCES: The databases MEDLINE (1946 to March 2016), PubMed, and International Pharmaceutical Abstracts were searched using the terms epoprostenol, Flolan, Raynaud's disease, and CREST syndrome. Further literature sources were identified by reviewing article citations. STUDY SELECTION AND DATA EXTRACTION: All English-language, clinical trials and case series evaluating IV epoprostenol for the management or treatment of RP were included...
July 26, 2016: Annals of Pharmacotherapy
Roberto Assandri, Marta Monari, Alessandro Montanelli
AIM: We described two case reports of AIH/SSc overlap syndrome and reviewed literatures regarding this issue. BACKGROUND: AIH is a chronic hepatitis of unknown aetiology characterized by continuing hepatocellular necrosis and inflammation. AIH overlap syndromes have been reported with other autoimmune diseases. PATIENTS AND METHODS: According to the classification criteria for SSc, we conducted a retrospective chart review of 35 cases with biopsy-proven AIH over the past 5 years at our institution...
2016: Gastroenterology and Hepatology From Bed to Bench
Zlatka Stoyneva
OBJECTIVES: To assess laser Doppler-recorded postocclusive reactive hyperemic responses in vibration-induced Raynaud's phenomenon and compare it with primary and secondary to sclerodermy Raynaud's phenomenon. MATERIAL AND METHODS: Thirty patients with vibration-induced Raynaud's phenomenon and 30 healthy controls and patients with primary and secondary to sclerodermy Raynaud's phenomenon were investigated. Fingerpulp skin blood flow was monitored by laser Doppler flowmetry during postocclusive reactive hyperemia test...
2016: International Journal of Occupational Medicine and Environmental Health
Seo-Hyun Kim, I-Nae Park
Antisynthetase syndrome has been recognized as an important cause of autoimmune inflammatory myopathy in a subset of patients with polymyositis and dermatomyositis. It is associated with serum antibody to aminoacyl-transfer RNA synthetases and is characterized by a constellation of manifestations, including fever, myositis, interstitial lung disease, mechanic's hand-like cutaneous involvement, Raynaud phenomenon, and polyarthritis. Lung disease is the presenting feature in 50% of the cases. We report a case of a 60-year-old female with acute respiratory distress syndrome (ARDS), which later proved to be an unexpected and initial manifestation of anti-Jo-1 antibody-positive antisynthetase syndrome...
July 2016: Tuberculosis and Respiratory Diseases
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