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Sneddon's syndrome

Constanza Martinez-Mera, Javier Fraga, Tania M Capusan, Maria Herrero-Moyano, Almudena Godoy-Trapero, Yosmar Gonzales Perez, Mar Llamas-Velasco
Most emergencies in dermatology comprise a variety of entities with a usually benign course. However, vasculopathies and vasculitis are not common, but they could represent respectively 1.9% and 4.4% of these entities according to some studies of Emergency Dermatology Department. They become an important disease which has to be identified early to establish appropriate management and treatment. Some of them are well known, such as the leukocitoclastic vasculitis, Schölein-Henoch, panarteritis nodosa, antineutrophil cytoplasmic antibody associated vasculitis, giant cell arteritis, cryoglobulinemic vasculitis and antiphospholipid syndrome...
December 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
Terrence F Meehan, Nathalie Conte, David B West, Julius O Jacobsen, Jeremy Mason, Jonathan Warren, Chao-Kung Chen, Ilinca Tudose, Mike Relac, Peter Matthews, Natasha Karp, Luis Santos, Tanja Fiegel, Natalie Ring, Henrik Westerberg, Simon Greenaway, Duncan Sneddon, Hugh Morgan, Gemma F Codner, Michelle E Stewart, James Brown, Neil Horner, Melissa Haendel, Nicole Washington, Christopher J Mungall, Corey L Reynolds, Juan Gallegos, Valerie Gailus-Durner, Tania Sorg, Guillaume Pavlovic, Lynette R Bower, Mark Moore, Iva Morse, Xiang Gao, Glauco P Tocchini-Valentini, Yuichi Obata, Soo Young Cho, Je Kyung Seong, John Seavitt, Arthur L Beaudet, Mary E Dickinson, Yann Herault, Wolfgang Wurst, Martin Hrabe de Angelis, K C Kent Lloyd, Ann M Flenniken, Lauryl M J Nutter, Susan Newbigging, Colin McKerlie, Monica J Justice, Stephen A Murray, Karen L Svenson, Robert E Braun, Jacqueline K White, Allan Bradley, Paul Flicek, Sara Wells, William C Skarnes, David J Adams, Helen Parkinson, Ann-Marie Mallon, Steve D M Brown, Damian Smedley
Although next-generation sequencing has revolutionized the ability to associate variants with human diseases, diagnostic rates and development of new therapies are still limited by a lack of knowledge of the functions and pathobiological mechanisms of most genes. To address this challenge, the International Mouse Phenotyping Consortium is creating a genome- and phenome-wide catalog of gene function by characterizing new knockout-mouse strains across diverse biological systems through a broad set of standardized phenotyping tests...
August 2017: Nature Genetics
Laura Bukavina, Joshua Weaver, Teri Nagy, Robert T Brodell, Eliot N Mostow
Sneddon syndrome (SS) is a rare condition and the diagnosis is made only when other more common disease entities have been excluded. Common manifestations in SS patients include hypertension, coronary artery disease, venous thrombosis, miscarriages, psychiatric disturbances, and arterial and venous thrombotic events. Most patients present in their early 30s with classic neurovascular and dermatologic signs. Currently, the main criteria for the diagnosis of SS include livedo racemosa, focal neurological deficits or evidence of stroke on magnetic resonance imaging, or characteristic vascular alterations seen on biopsy...
October 2016: Cutis; Cutaneous Medicine for the Practitioner
Mar Llamas-Velasco, Victoria Alegría, Ángel Santos-Briz, Lorenzo Cerroni, Heinz Kutzner, Luis Requena
We review the most characteristic clinical and histopathologic findings of the cutaneous manifestations of the occlusive nonvasculitic vasculopathic disorders. Clinically, most of these conditions are characterized by retiform purpura. Histopathologic findings consist of occlusion of the vessel lumina with no vasculitis. Different disorders may produce nonvasculitic occlusive vasculopathy in cutaneous blood and lymphatic vessels, including embolization due to cholesterol and oxalate emboli, cutaneous intravascular metastasis from visceral malignancies, atrial myxomas, intravascular angiosarcoma, intralymphatic histiocytosis, intravascular lymphomas, endocarditis, crystal globulin vasculopathy, hypereosinophilic syndrome, and foreign material...
September 2017: American Journal of Dermatopathology
Paul Baciu, Candice M Nofar, Justin Spaulding, Hua Gao
PURPOSE: To report the occurrence of a branch retinal artery occlusion with paracentral acute middle maculopathy in an otherwise healthy young man with a history of livedo reticularis (LR). METHODS: Retrospective case report. PATIENTS: A 21-year-old man with a history of LR being treated with pentoxifylline developed an acute branch retinal artery occlusion with initial best-corrected visual acuity at presentation of 20/80. RESULTS: A thorough diagnostic work up was negative for potential causes of branch retinal artery occlusion or LR...
October 2017: Retinal Cases & Brief Reports
Anna Bersano, Michela Morbin, Elisa Ciceri, Gloria Bedini, Peter Berlit, Michele Herold, Stefania Saccucci, Valeria Fugnanesi, Hannes Nordmeyer, Giuseppe Faragò, Mario Savoiardo, Franco Taroni, MariaRita Carriero, Battista Boncoraglio Giorgio, Laura Perucca, Luigi Caputi, Agostino Parati Eugenio, Markus Kraemer
Divry van Bogaert Syndrome (DBS) is a familial juvenile-onset disorder characterized by livedo racemosa, white matter disease, dementia, epilepsy and angiographic finding of "cerebral angiomatosis". A similar syndrome including livedo racemosa and cerebrovascular disease, often associated with anticardiolipin antibodies, has been described as Sneddon Syndrome (SS) highlighting the question whether these two conditions have to be considered different entities or indeed different features of a unique syndrome...
May 15, 2016: Journal of the Neurological Sciences
Cristina Collantes-Rodríguez, David Jiménez-Gallo, Cintia Arjona-Aguilera, Lidia Ossorio-García, Mario Linares-Barrios
No abstract text is available yet for this article.
June 1, 2016: JAMA Dermatology
Zoe Rutter-Locher, Zhongbo Chen, Lorena Flores, Tanya Basu, Daniel Creamer, Robert Weeks, Roopen Arya, Lina Nashef
A 51-year-old man gave a 2-year history of worsening mobility, cognitive decline and headaches. He had a history of thromboembolic stroke, recurrent transient ischaemic attacks and a spontaneous intraventricular haemorrhage. On examination, he had livedo reticularis and perniosis and a systolic murmur. Catheter cerebral angiography showed peripheral small-vessel and medium-vessel vasculopathy resulting in pruning of the distal cortical vessels and tortuous irregular distal collaterals. Skin biopsy showed subtle vasculopathy with ectasia of capillaries and postcapillary venules but no frank vasculitis or arterial thrombosis...
August 2016: Practical Neurology
N Benmostefa, I Baretil, A Bouchoucha, S Kouach, A Rouina, R Malek
OBJECTIFS: Le syndrome de Sneddon (SS) représente une cause rare d'accidents vasculaires cérébraux (AVC). La prise en charge passe d'abord par la prévention des facteurs de risque et repose surtout sur les traitements antithrombotiques. MéTHODES: Un cas rapporté. RéSULTATS: Patiente de 50 ans, mère de 5EVBP, aux antécédents d'une HTA et de 3 accouchements prématurés, a été admise en service de médecine interne pour pris en charge d'un phénomène de Raynaud sévère compliqué d'une ischémie du gros orteil...
December 2015: Annales de Cardiologie et D'angéiologie
N Bel Feki, L Dieudonné
Sneddon's syndrome is a rare vascular disease affecting mainly skin and brain arterioles leading to their occlusion. The two main features of this syndrome are livedo racemosa and ischemic stroke. Here, we describe the case of a 37-year-old woman with a past medical history of Moskowitz's syndrome and migraine, and a 2-year history of livedo racemosa and Raynaud's phenomenon. She presented with acute aphasia related to cortical ischemic stroke. Extensive diagnostic workup allowed to diagnose a Sneddon's syndrome...
November 2015: Revue Médicale de Liège
Pedro Henrique Teixeira Junqueira, Paulo Puglia, Lázaro Luís Faria do Amaral, Mauricio Hoshino
No abstract text is available yet for this article.
January 2016: Arquivos de Neuro-psiquiatria
Shuangqing Wang, Li Feng, Guoliang Li, Wenbin Zhou, Bo Xiao
Sneddon syndrome(SS) is a rare clinical syndrome characterized by ischemic cerebrovascular disease and livedo reticularis, which involves the heart, kidney, fundus and other organs. We reported a case of a 45-year old male patient with recurrent ischemic cerebrovascular accidents as the first manifestation, accompanied by significant declines in cognitive function and livedo reticularis in trunk and limbs. The final diagnosis was SS. This article summarized the possible etiology, clinical characteristics, diagnosis and treatment for SS...
September 2015: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
Tom Cpm Kemper, R Rienks, P Jam van Ooij, R A van Hulst
INTRODUCTION: Cutaneous decompression sickness (DCS) is often considered to be a mild entity that may be explained by either vascular occlusion of skin vessels by bubbles entering the arterial circulation through a right-to-left shunt or bubble formation due to saturated subcutaneous tissue during decompression. We propose an alternative hypothesis. METHODS: The case is presented of a 30-year-old female diver with skin DCS on three separate occasions following relatively low decompression stress dives...
June 2015: Diving and Hyperbaric Medicine: the Journal of the South Pacific Underwater Medicine Society
Gabriele Piffaretti, Gianpaolo Carrafiello, Marco Franchin, Anna Maria Ierardi, Giovanni Mariscalco, Patrizio Castelli, Santi Trimarchi
We present the case of a 49-year-old woman diagnosed with Sneddon's syndrome and previous endovascular embolization for cerebral and left renal artery aneurysms. The aneurysm was asymptomatic and incidentally detected as coin opacity at a preoperative X-ray performed for breast surgery. The 13-mm saccular left internal thoracic artery aneurysm engaged through a percutaneous left brachial artery access was successfully excluded with a stent graft. A 6-month follow-up computed tomography angiography confirmed the exclusion of the aneurysm, the patency of the internal thoracic artery, and the absence of endoleak or edge stenoses...
October 2015: Annals of Vascular Surgery
Fernando Dominguez, Burkert Pieske, Sebastian Kelle
No abstract text is available yet for this article.
2015: International Journal of Cardiology
Mark Briffa, Lynne U Sneddon, Alastair J Wilson
We review the evidence for a link between consistent among-individual variation in behaviour (animal personality) and the ability to win contests over limited resources. Explorative and bold behaviours often covary with contest behaviour and outcome, although there is evidence that the structure of these 'behavioural syndromes' can change across situations. Aggression itself is typically repeatable, but also subject to high within-individual variation as a consequence of plastic responses to previous fight outcomes and opponent traits...
March 2015: Biology Letters
Sophie Sneddon, Justine S Leon, Ian M Dick, Gemma Cadby, Nola Olsen, Fraser Brims, Richard J N Allcock, Eric K Moses, Phillip E Melton, Nicholas de Klerk, A W Bill Musk, Bruce W S Robinson, Jenette Creaney
Malignant mesothelioma (MM) is a uniformly fatal tumour caused predominantly by exposure to asbestos. It is not known why some exposed individuals get mesothelioma and others do not. There is some epidemiological evidence of host susceptibility. BAP1 gene somatic mutations and allelic loss are common in mesothelioma and recently a BAP1 cancer syndrome was described in which affected individuals and families had an increased risk of cancer of multiple types, including MM. To determine if BAP1 mutations could underlie any of the sporadic mesothelioma cases in our cohort of patients, we performed targeted deep sequencing of the BAP1 exome on the IonTorrent Proton sequencer in 115 unrelated MM cases...
May 25, 2015: Gene
Laure Bottin, Camille Francès, Dominique de Zuttere, Pierre-Yves Boëlle, Ioan-Paul Muresan, Sonia Alamowitch
OBJECTIVE: Sneddon syndrome (SS) is characterized by the association of a livedo reticularis with stroke. Clinicoradiological features of its neurological manifestations, its prognosis, and the frequency of associated cardiac valvulopathy remain poorly known, particularly in the absence of antiphospholipid antibodies (APL). The objectives were to assess the clinicoradiological pattern of SS without APL (SSAPL- ) and its midterm prognosis. METHODS: Clinical data, transthoracic echocardiograms, and brain imaging of 53 consecutive patients (83% women) with SSAPL- , followed up at our institution between 1991 and 2011, were reviewed...
May 2015: Annals of Neurology
Shengjun Wu, Ziqi Xu, Hui Liang
Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa(LR). The Orpha number for SS is ORPHA820. It has been estimated that the incidence of SS is 4 per 1 million per annum in general population and generally occurs in women between the ages of 20 and 42 years. LR may precede the onset of stroke by years and the trunk and/or buttocks are involved in nearly all patients. The cerebrovascular manifestations are mostly secondary to ischemia (transient ischemic attacks and cerebral infarct)...
December 31, 2014: Orphanet Journal of Rare Diseases
P Romera Romero, A Monés Llivina, A Blazquez Abisu, A Sabala Llopart
CLINICAL CASE: We report a case of a 26 year old woman with Raynaud's phenomenon and livedo reticularis 2 years onset, who presented with visual field defects accompanied by hypertension, hematuria, and headache. The examination revealed multiple retinal and optic nerve head infarcts in both eyes. DISCUSSION: Sneddon's syndrome is a vasculitis that produces livedo reticularis, neurological symptoms, and less frequently myocardial, renal and retinal infarction. After reviewing the literature, this is the first case described of Sneddon's syndrome presenting with optic nerve infarction...
April 2015: Archivos de la Sociedad Española de Oftalmología
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