DOCSLIB.ORG

Clinical Study of Children with Cryofibrinogenemia: a Retrospective Study from a Single Center Hsiao-Feng Chou1, Yu-Hung Wu2, Che-Sheng Ho3 and Yu-Hsuan Kao4*

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Clinical Study of Children with Cryofibrinogenemia: a Retrospective Study from a Single Center Hsiao-Feng Chou1, Yu-Hung Wu2, Che-Sheng Ho3 and Yu-Hsuan Kao4* Chou et al. Pediatric Rheumatology (2018) 16:31 https://doi.org/10.1186/s12969-018-0249-6 RESEARCH ARTICLE Open Access Clinical study of children with cryofibrinogenemia: a retrospective study from a single center Hsiao-Feng Chou1, Yu-Hung Wu2, Che-Sheng Ho3 and Yu-Hsuan Kao4* Abstract Background: This study aimed to evaluate the demographic, clinical features, laboratory data, pathology and other survey in pediatric patients with cryofibrinogenemia. Methods: A 12-year retrospective chart review identified eight pediatric patients at Mackay Memorial Hospital, Taipei, Taiwan. Results: The female-to-male ratio was 3:1. The mean age at symptom onset and of diagnosis was 10.3 ± 4.6 years and 12.3 ± 4 years, respectively. One child (12.5%) had primary cryofibrinogenemia. The common symptoms were purpura, arthralgia, and muscle weakness (100%). On laboratory examination, cryofibrinogen was positive in all patients. All patients had increased anti-thrombin III while 87.5% and 62.5% had abnormal protein S and protein C, respectively. All eight also complained of neurologic symptoms. One had vertebral artery narrowing, two showed increased T2-weighted signal intensity on the thalamus or white matter, and one had acute hemorrhagic encephalomyelitis on brain magnetic resonance imaging. Conclusions: This study reports on the presentations of cryofibrinogenemia, which is rare in children. Most cases are associated with autoimmune disease and have severe and complex presentations. Central nervous system involvement is common. Keywords: Cryofibrinogenemia, Children, Central nervous system Background thrombotic occlusions of medium and small vessels, Cryofibrinogenemia is a rare hematologic disorder wherein leading to amplified hyper-viscosity, reflex vasospasms, plasma forms a cryoprecipitate that consists of fibrinogen, and vascular stasis [2]. fibrin, fibronectin, factor VII, and smaller amounts of vari- The most common symptoms of cryofibrinogenemia ous plasma proteins. Cryofibrinogen precipitates at a low are due to cutaneous ischemia and include purpura, temperature (4 °C) and re-dissolves on warming to (37 °C) livedo reticularis, blisters, tissue necrosis, and ulceration. [1]. Its exact pathogenesis has not been elucidated. A first Systemic symptoms have been reported to be glomer- hypothesis is that there is a defect in the fibrinolytic ulonephritis and thrombophlebitis [3]. Cases involving process, with high plasma levels of α1antitrypsinandα2- children have rare been reported. This is a retrospective macroglobulin (protease inhibitors), and delayed lysis of review on pediatric patients diagnosed with cryofibrino- euglobulin. But since elevated plasma α1-antitrypsin and genemia in a tertiary medical center in Taiwan. α2-macroglobulin levels are not found in other studies, a second hypothesis favors an increased thrombin-binding capacity and clot formation. Both hypotheses lead to Methods After a review of the diagnostic criteria and clinical fea- * Correspondence: [email protected] tures, a medical chart review of eight patients younger 4 Section of Immunology, Rheumatology and Allergy, Department of than 18 years with a diagnosis of cryofibrinogenemia at Pediatrics, Mackay Memorial Hospital, No. 92, Sec. 2, Zhong-shan N. Rd, Taipei City 10449, Taiwan the pediatric department of Mackay Memorial Hospital, Full list of author information is available at the end of the article Taipei, Taiwan, between May 2010 and July 2015. The © The Author(s). 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. Chou et al. Pediatric Rheumatology (2018) 16:31 Page 2 of 8 diagnostic criteria originally proposed by essential and involvement was indicated by proteinuria, hematuria, or el- supportive evidence. Essential evidence included: 1) ap- evated serum creatinine. propriate clinical presentation of sudden onset of skin Arterial thrombosis was confirmed clinically and by changes and constitutional symptoms, with or without angiogram of the lower limbs, superior mesentery artery, thrombosis, bleeding, or exposure to cold; 2) presence of and celiac artery. The associated autoimmune diseases cryofibrinogen in plasma; and 3) absence of cryoglobulins. were diagnosed based on the following criteria: systemic Essential cryofibrinogenemia meant no secondary causes of lupus erythematosus (SLE) was defined accorded to the cryofibrinogens and no evidence of other vaso-occlusive 1997 revised criteria of the American College of Rheuma- diseases. tology [4]; juvenile idiopathic arthritis (JIA) was defined Supportive evidence was non-specific and not compul- by the International League of Associations for Rheuma- sory. However, when present along with essential evidence, tology criteria [5]; juvenile dermatomyositis (JDM) was supportive evidence improved diagnostic accuracy. Sup- according to the criteria of Bohan and Peter in 1975 [6]; portive evidence included: 1) angiogram with abrupt Behcet’s disease was diagnosed according to the Inter- occlusion of small to medium sized arteries; 2) typical national Study Group for Behcet’s disease in 1990 [7]and skin biopsy findings of cryofibrinogen plugging vessels, leu- cutaneous mastocytosis was according to the criteria of a kocytoclastic vasculitis, or dermal necrosis; and 3) elevated consensus proposal of Valent et al. in 2001 [8]. serum levels of α1-antitrypsin and α2-macroglobulin [3]. Data were collected and charted in terms of sex, age at onset, initial complaints, presenting features, laboratory Results values, electrophysiologic examinations, imaging studies The female-to-male ratio was 3:1. The mean age at (i.e., angiography and magnetic resonance imaging [MRI]), symptom onset was 10.3 ± 4.6 months (range, 2.5–18. and skin biopsy. 5 years). The mean age at diagnosis was 12.3 ± 4 months The clinical symptoms evaluated were defined as fol- (range, 4–18.6 years). Based on the symptoms identified, lows: 1) skin manifestations, including purpura, Raynaud the most common initial symptoms were arthralgia and phenomenon, skin necrosis or ulceration, livedo reticularis, myalgia. The most common symptoms were purpura, urticaria, gangrene, sensitivity to cold, and ecchymosis; 2) muscle weakness, and arthralgia (Table 1). The skin neurologic involvement (e.g. muscle weakness, numbness, manifestations were shown in Fig. 1. headache, vertigo, dizziness, seizures, dysuria, and dyspho- On laboratory examination, cryofibrinogen was positive nia); 3) arthralgia, fever, and myalgia; and 4) other systemic and cryoglobulin was negative in seven children (87.5%). symptoms like dyspnea, chest pain, abdominal pain, hema- Three patients with α1 anti-trypsin checked had negative tochezia, menorrhea, bone pain, or insomnia. results (Table 3). In addition, anti-thrombin III was in- The laboratory examinations included platelet count, creased in all patients. The other frequent laboratory abnor- Prothrombin time (PT), activated partial thromboplastin mality was abnormal protein S (87.5%), increased protein C time (aPTT), von Willebrand factor (vWF), serum im- (5/8, 62.5%), decreased C3 (4/8; 50%), and abnormal C4 (4/ munoglobulin A (IgA), cryofibrinogen, cryoglobulin, α1 8; 50%). Other immunologic results had relatively lower anti-trypsin, and other immunological examinations. Hepa- proportion of abnormal values. None of the eight children titis C virus (HCV) antigen, anti-HCV, hepatitis B virus had hepatitis B or C virus infection (Table 2). (HBV) surface antigen (HBsAg), and anti-HBV antibodies Four patients received skin biopsy and one revealed were measured. Proteinuria, hematuria, and serum creatin- micro-thrombi on small arterioles (Fig. 2). Angiograms inewerealsorecorded. were performed on four patients and all revealed abnor- Systemic involvements were evaluated by several ex- mal findings that included vessel narrowing or decreased aminations. Skin biopsy was performed for establish the arterial flow rate on the lower extremities, renal arteries, diagnosis. Arthritis indicated joint swelling with two or or celiac trunks (Table 3, Fig. 3). more of erythema, local heat, tenderness, or limited All eight patients had neurologic symptoms, the most range of motion. In the peripheral and central nervous common of which was muscle weakness (Table 1). On system (CNS), neuritis indicated peripheral neuropathy electro-physiologic examinations, NCV revealed neuro- on nerve conduction velocity (NCV), while patients pre- pathic change on three of seven (42.9%) patients, com- sented with numbness, weakness, or pain. Brain and spine patible with multi-neuritis. The VEP showed prolonged MRI, electromyogram (EMG), somato-sensory evoked po- P100 in two patients who complained of blurred vision tential (SSEP), brainstem auditory evoked potential (BAEP), or diplopia. The EEG showed spikes or cortical dysfunc- andvisualevokedpotential(VEP)wereperformedaccord- tion on three of four patients (75%) who presented with ing CNS symptoms and signs. chronic headache or consciousness disturbance. Three In the respiratory system,
Load more

Recommended publications
  • Eye Findings in Patients with Juvenile Dermatomyositis JONATHAN D
    Eye Findings in Patients with Juvenile Dermatomyositis JONATHAN D. AKIKUSA, DHENUKA K. TENNANKORE, ALEX V. LEVIN, and BRIAN M. FELDMAN ABSTRACT. Objective. Reports of eye involvement in juvenile dermatomyositis (JDM), including significant retinopathy with visual loss, have led some to recommend routine formal ophthalmologic assess- ments for all patients with JDM at diagnosis. Our objective was to document the frequency and spec- trum of eye involvement in patients followed in a single clinic caring for children with JDM. Methods. A chart review was conducted of formal ophthalmologic consultation notes for patients with JDM followed at the Hospital for Sick Children between 1981 and 2002. Results. Ophthalmologic assessments were found for 82 of 108 patients with JDM. The mean age at diagnosis of JDM was 7.0 years and 68.3% were female. Forty-five patients (55.6%) had abnormal eye examinations. Lid manifestations, found in 37 patients (45.7%), were the most common abnor- mality. Fourteen patients (17.1%) had corticosteroid-induced cataracts. Two patients had retinal abnormalities; one had a small retinal hemorrhage, the other an incidental chorioretinal scar. Neither had impairment of vision. No patient had uveitis. Conclusion. Eyelid and lens abnormalities are common in patients with JDM, while retinopathy is rare. As lid lesions and cataracts are easily detected by non-ophthalmologists, and retinal lesions are rare, we feel that JDM patients without visual symptoms do not require routine formal ophthalmo- logic assessment for disease manifestations. (J Rheumatol 2005;32:1986–91) Key Indexing Terms: JUVENILE DERMATOMYOSITIS RETINOPATHY CATARACTS HELIOTROPE Juvenile dermatomyositis (JDM) is a systemic inflammato- described in adult patients with DM11-13, in some cases pro- ry vasculopathy in which the predominant clinical manifes- ducing permanent visual impairment11,13.
    [Show full text]
  • Juvenile Dermatomyositis - a Case Report with Review on Oral Manifestations and Oral Health Considerations
    Volume 44 Number 1 pp. 52-61 2018 Case Report Juvenile dermatomyositis - A case report with review on oral manifestations and oral health considerations Pritesh Ruparelia ([email protected]) Oshin Verma ([email protected]) Vrutti Shah ([email protected]) Krishna Shah ([email protected]) Follow this and additional works at: https://ijom.iaom.com/journal The journal in which this article appears is hosted on Digital Commons, an Elsevier platform. Suggested Citation Ruparelia, P., et al. (2018). Juvenile dermatomyositis - A case report with review on oral manifestations and oral health considerations. International Journal of Orofacial Myology, 44(1), 52-61. DOI: https://doi.org/10.52010/ijom.2018.44.1.4 This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. The views expressed in this article are those of the authors and do not necessarily reflect the policies or positions of the International Association of Orofacial Myology (IAOM). Identification of specific oducts,pr programs, or equipment does not constitute or imply endorsement by the authors or the IAOM. International Journal of Orofacial Myology 2018, V44 JUVENILE DERMATOMYOSITIS - A CASE REPORT WITH REVIEW ON ORAL MANIFESTATIONS AND ORAL HEALTH CONSIDERATIONS. PRITESH RUPARELIA, MDS, OSHIN VERMA, BDS, VRUTTI SHAH, BDS, KRISHNA SHAH, BDS ABSTRACT Juvenile Dermatomyositis is the most common inflammatory myositis in children, distinguished by proximal muscle weakness, a characteristic rash and Gottron’s papules. The oral lesions most commonly manifest as diffuse stomatitis and pharyngitis with halitosis. We report a case of an 8 year old male with proximal muscle weakness of all four limbs, rash, Gottron’s papules and oral manifestations.
    [Show full text]
  • Biology and Management of Unusual Plasma Cell Dyscrasias
    Todd M. Zimmerman Shaji K. Kumar Editors Biology and Management of Unusual Plasma Cell Dyscrasias 123 Biology and Management of Unusual Plasma Cell Dyscrasias Todd M. Zimmerman • Shaji K. Kumar Editors Biology and Management of Unusual Plasma Cell Dyscrasias 123 Editors Todd M. Zimmerman, MD Shaji K. Kumar, MD Section of Hematology/Oncology Division of Hematology, The University of Chicago Department of Medicine Chicago, IL, USA Mayo Clinic Rochester, MN, USA ISBN 978-1-4419-6847-0 ISBN 978-1-4419-6848-7 (eBook) DOI 10.1007/978-1-4419-6848-7 Library of Congress Control Number: 2016940068 © Springer Science+Business Media New York 2017 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made.
    [Show full text]
  • Adverse Drug Reactions Associated with Treatment in Patients With
    Said et al. Advances in Rheumatology (2020) 60:53 Advances in Rheumatology https://doi.org/10.1186/s42358-020-00154-4 RESEARCH Open Access Adverse drug reactions associated with treatment in patients with chronic rheumatic diseases in childhood: a retrospective real life review of a single center cohort Manar Amanouil Said* , Liana Soido Teixeira e Silva, Aline Maria de Oliveira Rocha, Gustavo Guimarães Barreto Alves, Daniela Gerent Petry Piotto, Claudio Arnaldo Len and Maria Teresa Terreri Abstract Background: Adverse drug reactions (ADRs) are the sixth leading causes of death worldwide; monitoring them is fundamental, especially in patients with disorders like chronic rheumatic diseases (CRDs). The study aimed to describe the ADRs investigating their severity and associated factors and resulting interventions in pediatric patients with CRDs. Methods: A retrospective, descriptive and analytical study was conducted on a cohort of children and adolescents with juvenile idiopathic arthritis (JIA), juvenile systemic lupus erythematosus (JSLE) and juvenile dermatomyositis (JDM). The study evaluated medical records of the patients to determine the causality and the management of ADRs. In order to investigate the risk factors that would increase the risk of ADRs, a logistic regression model was carried out on a group of patients treated with the main used drug. Results: We observed 949 ADRs in 547 patients studied. Methotrexate (MTX) was the most frequently used medication and also the cause of the most ADRs, which occurred in 63.3% of patients, followed by glucocorticoids (GCs). Comparing synthetic disease-modifying anti-rheumatic drugs (sDMARDs) vs biologic disease-modifying anti- rheumatic drugs (bDMARDs), the ADRs attributed to the former were by far higher than the latter.
    [Show full text]
  • Vasculitis in Systemic Sclerosis
    Hindawi Publishing Corporation International Journal of Rheumatology Volume 2010, Article ID 385938, 9 pages doi:10.1155/2010/385938 Review Article Vasculitis in Systemic Sclerosis Lily Kao and Cornelia Weyand Division of Immunology and Rheumatology, School of Medicine, Stanford University, Stanford, 1000 Welch Road, Suite #203, Palo Alto, CA 94304, USA Correspondence should be addressed to Lily Kao, [email protected] Received 14 May 2010; Accepted 17 July 2010 Academic Editor: Laura K. Hummers Copyright © 2010 L. Kao and C. Weyand. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Systemic sclerosis (SSc) is a multiorgan connective tissue disease characterized by autoantibody production and fibroproliferative stenosis of the microvasculature. The vascoluopathy associated with SSc is considered to be noninflammatory, yet frank vasculitis can complicate SSc, posing diagnostic and therapeutic challenges. Here, we have reviewed the literature for reports of small-, medium-, and large-vessel vasculitis occurring in SSc. Amongst 88 reported cases of vasculitis in SSc, patients with ANCA-associated vasculitis appear to present a unique subclass in that they combined typical features of SSc with the renal manifestation of ANCA-associated glomerulonephritis. Other vasculitic syndromes, including large-vessel vasculitis, Behcet’s disease, cryoglobulinemia, and polyarteritis nodosa, are rarely encountered in SSc patients. ANCA-associated vasculitis needs to be considered as a differential diagnosis in SSc patients presenting with renal insufficiency, as renal manifestations may result from distinct disease processes and require appropriate diagnostic testing and treatment. 1. Introduction 2.
    [Show full text]
  • Autoantibodies in Myositis
    Autoantibodies in Myositis Neil McHugh University of Bath and Royal National Hospital for Rheumatic Diseases Bath UK Idiopathic Inflammatory Myositis Spectrum Disease Muscle inflammation Skin disorder Interstitial lung disease Myositis spectrum disease autoantibodies (MSDA)! Myositis Spectrum Disease • Polymyositis • Anti-synthetase syndrome • Immune-mediated necrotising myopathy • Dermatomyositis • Clinically amyopathic dermatomyositis (CADM) • Cancer associated myositis (CAM) • Inclusion Body Myositis • Juvenile Dermatomyositis • Myositis associated with connective tissue disease • Otherj • Granulomatous, eosinophilic, focal, orbital, macrophagic, myofasciitis Autoantibodies in Myositis Spectrum Disease • MSDA (myositis spectrum • MAA (myositis associated disorder autoantibodies) autoantibodies) • Anti-tRNA synthetases (e.g. • Anti-PM-Scl anti-Jo-1) • • Anti-Mi-2 Anti-U1RNP • Anti-signal recognition • Anti-Ku particle • Anti-U3RNP • Anti-SAE • Anti-Ro (SSA) • Anti-TIF1-g • Anti-NXP2 • Anti-MDA5 • Anti-HMGCR • Anti-cN-1A MSDAs and target autoantigens I Autoantibodies Target autoantigen Autoantigen function Clinical phenotype Anti-ARS tRNA synthetase Intracytoplasmic protein ASS Anti-Jo-1 Histidyl synthesis Myositis Anti-PL-7 Threonyl Binding between an amino Interstitial pneumonia Anti-PL-12 Alanyl acid and its cognate tRNA Mechanics hands Anti-EJ Glycyl Arthritis Anti-OJ Isoleucyl Anti-KS Asparaginyl Fever Anti-Zo Phenylalanyl Raynauds Anti-YRS Tyrosyl Anti-Mi-2 Helicase protein part of the Nuclear transcription Adult and juvenile DM
    [Show full text]
  • Childhood-Onset Systemic Lupus Erythematosus: a Review and Update
    MEDICAL www.jpeds.com • THE JOURNAL OF PEDIATRICS PROGRESS Childhood-Onset Systemic Lupus Erythematosus: A Review and Update Onengiya Harry, MD, MPH†, Shima Yasin, MD, MSc†, and Hermine Brunner, MD, MSc, MBA, FAAP, FACR upus is a chronic, autoimmune multisystem inflam- Genetic Factors matory disease that is associated with sizable morbid- There is a 10-fold increase in SLE risk among monozygotic as L ity and mortality.1 When lupus commences in an compared to dizygotic twins.15,16 Further, siblings of a patient individual less than 18 years of age,2 it is commonly referred with SLE carry an 8- to 20-fold higher risk of developing SLE to as childhood-onset systemic lupus erythematosus (cSLE). as compared with a healthy general population.16,17 With a reported incidence of 0.3-0.9 per 100 000 children per SLE is considered a polygenic disease, although rare mono- year, and a prevalence of 3.3-24 per 100 000 children,3 cSLE genic causes have been described recently.18 Genetic variants is rare. About 10%-20% of all patients with SLE are diag- that are well-established include very rare mutations in genes nosed during childhood. Typically, cSLE has a more severe clini- coding for select complement factors. Indeed, a single gene mu- cal course than that seen in adults, with a higher prevalence tation that results in a complete deficiency of C1q increases of lupus nephritis, hematologic anomalies, photosensitivity, neu- the risk of SLE, or lupus-like symptoms, to more than 90%. ropsychiatric, and mucocutaneous involvement.3-5 C4 deficiency is also
    [Show full text]
  • Beneath the Surface: Derm Clues to Underlying Disorders
    Christian R. Halvorson, MD; Richard Colgan, MD Department of Family and Beneath the surface: Derm clues Community Medicine, University of Maryland School of Medicine, Baltimore to underlying disorders [email protected] Dermatologic fi ndings are frequent indicators of The authors reported no potential confl ict of interest connective tissue disorders. Here’s what to look for. relevant to this article. any systemic conditions are accompanied by skin PRACTICE manifestations. Th is is especially true for connec- RECOMMENDATIONS Mtive tissue disorders, for which dermatologic fi nd- › When evaluating patients ings are often the key to diagnosis. with suspected cutaneous In this review, we describe the dermatologic fi ndings of lupus erythematosus, use some well-known connective tissue disorders. Th e text and multiple criteria—including photographs in the pages that follow will help you hone your histologic and immuno- diagnostic skills, leading to earlier treatment and, possibly, fl uorescent biopsy fi ndings better outcomes. and American College of Rheumatology criteria—to rule out systemic disease. C Lupus erythematosus: Cutaneous › Cancer screening with a and systemic disease often overlap careful history and physi- Lupus erythematosus (LE), a chronic, infl ammatory autoim- cal examination is recom- mended for all adult patients mune condition that primarily aff ects women in their 20s and whom you suspect of having 30s, may initially present as a systemic disease or in a purely dermatomyositis. C cutaneous form. However, most patients with systemic LE have some skin manifestations, and those with cutaneous › Suspect mixed connective LE often have—or subsequently develop—systemic involve- tissue disease in patients 1 with skin fi ndings charac- ment.
    [Show full text]
  • Juvenile Dermatomyositis: Novel Treatment Approaches and Outcomes
    REVIEW CURRENT OPINION Juvenile dermatomyositis: novel treatment approaches and outcomes Giulia C. Varniera, Clarissa A. Pilkingtona, and Lucy R. Wedderburna,b,c Purpose of review The aim of this article is to provide a summary of the recent therapeutic advances and the latest research on outcome measures for juvenile dermatomyositis (JDM). 04/06/2021 on BhDMf5ePHKav1zEoum1tQfN4a+kJLhEZgbsIHo4XMi0hCywCX1AWnYQp/IlQrHD3i3D0OdRyi7TvSFl4Cf3VC4/OAVpDDa8KKGKV0Ymy+78= by http://journals.lww.com/co-rheumatology from Downloaded Downloaded Recent findings Several new international studies have developed consensus-based guidelines on diagnosis, outcome from measures and treatment of JDM to standardize and improve patient care. Myositis-specific antibodies http://journals.lww.com/co-rheumatology together with muscle biopsy histopathology may help the clinician to predict disease outcome. A newly developed MRI-based scoring system has been developed to standardize the use of MRI in assessing disease activity in JDM. New data regarding the efficacy and safety of rituximab, especially for skin disease, and cyclophosphamide in JDM support the use of these medications for severe refractory cases. Summary International network studies, new biomarkers and outcome measures have led to significant progress in by BhDMf5ePHKav1zEoum1tQfN4a+kJLhEZgbsIHo4XMi0hCywCX1AWnYQp/IlQrHD3i3D0OdRyi7TvSFl4Cf3VC4/OAVpDDa8KKGKV0Ymy+78= understanding and managing the rare inflammatory myositis conditions such as JDM. Keywords advanced treatment, juvenile dermatomyositis, outcome measures INTRODUCTION To overcome these issues, these two international Juvenile dermatomyositis (JDM) is a rare systemic organizations joined forces and developed a new set autoimmune disease characterized by a vasculopathy of consensus-driven response criteria for adult that primarily affects muscle and skin, but may dermatomyositis/polymyositis and children with involve the lung, bowel, heart and other organs JDM.
    [Show full text]
  • Studies of Somatosensory and Pain Neural Circuits with High Field
    STUDIES OF SOMATOSENSORY AND PAIN NEURAL CIRCUITS WITH HIGH FIELD FUNCTIONAL MRI By Elizabeth Ann Stringer Dissertation Submitted to the Faculty of the Graduate School of Vanderbilt University in partial fulfillment of the requirements for the degree of DOCTOR OF PHILOSOPHY in Neuroscience December, 2010 Nashville, Tennessee Approved: Professor Stephen Bruehl Professor Li Min Chen Professor John C. Gore Professor Jon Kaas Professor Ronald Wiley For my grandfather, John Charles Katz ii ACKNOWLEDGMENTS This research would not have been possible without the financial support of the National Institutes of Health through grants awarded to my advisor, Dr. John C. Gore. Most significantly the EB000461 grant has supported my research on the 7-T MR scanner for the last three years, and the T32 EB003817 predoctoral training grant supported two years of my research. I must acknowledge and thank my advisor Dr. Gore for taking a chance on me when I was a first year graduate student. He provided the finances that allowed me to acquire data whenever I needed to, procure new equipment, travel to conferences, and the list goes on. My research could not have been accomplished without the Vanderbilt University Institute of Imaging Science’s (VUIIS) 7-T scanner and the group of interdisciplinary scientists that keep it operational for human research. None of this would have been possible without Dr. Gore’s vision. I thank my committee members for encouraging me in my research. Their genuine interest in my projects has served as wonderful motivation. Dr. Li Min Chen has been a co-advisor to me and has taught me a great deal about sensory systems and manuscript writing, and her guidance has been critical to my development as a scientist.
    [Show full text]
  • Brown Medical School Biomed 370 the Brain and Human Behavior
    Brown Medical School Biomed 370 The Brain and Human Behavior The Brain and Human Behavior Biomed 370 A first year, second semester course sponsored by the Department of Psychiatry and Human Behavior Course Directors: Robert Boland, M.D. 455-6417 (office), 455-6497 (fax) [email protected] Stephen Salloway, M.D., M.S. 455-6403 (office), 455-6405 (fax) [email protected] Web site available through WebCT Teaching Assistants: Nancy Brim ([email protected]) Marisa Kastoff ([email protected]) Stan Pelosi ([email protected]) Grace Farris ([email protected]) Table of Contents. Overall Course Objectives.....................................................................4 Section 1. Basic Principles. ...................................................................7 Chapter 1. Limbic System Anatomy........................................................8 Chapter 2. Frontal Lobe Function And Dysfunction..............................13 Chapter 3. Clinical Neurochemistry......................................................19 Chapter 4. The Neurobiology Of Memory............................................36 Chapter 5. The Control Of Feeding Behavior .......................................46 Chapter 6. Principles Of Pharmacology................................................51 Chapter 7. Principles Of Neuroimaging.................................................55 Chapter 8. The Mental Status Examination...........................................74 Section 2. The Clinical Disorders.......................................................89
    [Show full text]
  • Review Article Vasculitis in Systemic Sclerosis
    Hindawi Publishing Corporation International Journal of Rheumatology Volume 2010, Article ID 385938, 9 pages doi:10.1155/2010/385938 Review Article Vasculitis in Systemic Sclerosis Lily Kao and Cornelia Weyand Division of Immunology and Rheumatology, School of Medicine, Stanford University, Stanford, 1000 Welch Road, Suite #203, Palo Alto, CA 94304, USA Correspondence should be addressed to Lily Kao, [email protected] Received 14 May 2010; Accepted 17 July 2010 Academic Editor: Laura K. Hummers Copyright © 2010 L. Kao and C. Weyand. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Systemic sclerosis (SSc) is a multiorgan connective tissue disease characterized by autoantibody production and fibroproliferative stenosis of the microvasculature. The vascoluopathy associated with SSc is considered to be noninflammatory, yet frank vasculitis can complicate SSc, posing diagnostic and therapeutic challenges. Here, we have reviewed the literature for reports of small-, medium-, and large-vessel vasculitis occurring in SSc. Amongst 88 reported cases of vasculitis in SSc, patients with ANCA-associated vasculitis appear to present a unique subclass in that they combined typical features of SSc with the renal manifestation of ANCA-associated glomerulonephritis. Other vasculitic syndromes, including large-vessel vasculitis, Behcet’s disease, cryoglobulinemia, and polyarteritis nodosa, are rarely encountered in SSc patients. ANCA-associated vasculitis needs to be considered as a differential diagnosis in SSc patients presenting with renal insufficiency, as renal manifestations may result from distinct disease processes and require appropriate diagnostic testing and treatment. 1. Introduction 2.
    [Show full text]