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    Systemic Sclerosis: Exploring the Potential Interplay Between Thyroid Disorders and Pregnancy Outcome in an Italian Cohort.
    Isr Med Assoc J 2017 Aug;19(8):473-477
    Rheumatology, Allergology and Clinical Immunology, Department of Medicina dei Sistemi, University of Rome Tor Vergata, Rome, Italy.
    Background: Evidence has shown that pregnancy failure (PF) in women with systemic sclerosis (SSc) consists mainly of preterm delivery (PD) and intrauterine growth restriction (IUGR). Thyroid dysfunction (TD) and Hashimoto's thyroiditis (HT) represent a common feature of SSc. Since TD has been associated with PF, its presence in SSc women may potentially affect pregnancy outcome. Read More

    Mortality causes and outcomes in Indigenous populations of Canada, the United States, and Australia with rheumatic disease: A systematic review.
    Semin Arthritis Rheum 2017 Jul 25. Epub 2017 Jul 25.
    Department of Medicine, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada; Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada. Electronic address:
    Background: Indigenous populations of Canada, America, Australia, and New Zealand have increased rates and severity of rheumatic disease. Our objective was to summarize mortality outcomes and explore disease and social factors related to mortality.

    Methods: A systematic search was performed in medical (Medline, EMBASE, and CINAHL), Indigenous and conference abstract databases (to June 2015) combining search terms for Indigenous populations and rheumatic diseases. Read More

    MRI substrates of sustained attention system and cognitive impairment in pediatric MS patients.
    Neurology 2017 Aug 18. Epub 2017 Aug 18.
    From the Neuroimaging Research Unit (E.D.M., E.P., M.F., M.A.R.) and Department of Neurology (E.D.M., L.M., A. Fiorino, G.C., M.F., M.A.R.), Institute of Experimental Neurology, Division of Neuroscience, and Department of Neuroradiology (A. Falini), San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan; Multiple Sclerosis Center (A.G., L.P.), Ospedale di Gallarate; Department of Child Neurology and Psychiatry (P.V., M.C.P.), C. Mondino National Neurological Institute, Brain and Behaviour Department, University of Pavia; Multiple Sclerosis Center (R.C.), Spedali Civili of Brescia; and Department NEUROFARBA (M.P.A.), Section Neurosciences, University of Florence, Italy.
    Objective: To explore the structural and functional integrity of the sustained attention system in patients with pediatric multiple sclerosis (MS) and its effect on cognitive impairment.

    Methods: We enrolled 57 patients with pediatric MS and 14 age- and sex-matched healthy controls (HCs). Patients with >3 abnormal tests at neuropsychological evaluation were classified as cognitively impaired (CI). Read More

    Validation of the ACR/EULAR classification criteria for systemic sclerosis in patients with early scleroderma.
    Rheumatol Int 2017 Aug 17. Epub 2017 Aug 17.
    Rheumatology Division, Escola Paulista de Medicina, Universidade Federal de São Paulo, Rua Botucatu 740, 3º andar, São Paulo, SP, 04023-062, Brazil.
    The aim of this study was to validate the 2013 ACR/EULAR classification criteria for systemic sclerosis (SSc) in patients with SSc, including patients with early SSc. Fifty-six consecutive patients with early SSc (2001 LeRoy and Medsger criteria), 122 patients with established SSc (1980 ACR classification criteria), and 141 patients with SSc-like disorders were included in this cross-sectional study. The diagnostic performance of the 2013 ACR/EULAR criteria was compared with the 1980 ACR criteria in several subsets of patients. Read More

    Autoimmune potential of perchloroethylene: Role of lipid-derived aldehydes.
    Toxicol Appl Pharmacol 2017 Aug 14. Epub 2017 Aug 14.
    Department of Pathology, University of Texas Medical Branch, Galveston, TX 77555, USA. Electronic address:
    Tetrachloroethene (perchloroethylene, PCE), an ubiquitous environmental contaminant, has been implicated in inducing autoimmunity/autoimmune diseases (ADs), including systemic lupus erythematosus (SLE) and scleroderma in humans. However, experimental evidence suggesting the potential of PCE in mediating autoimmunity is lacking. This study was, therefore, undertaken to explore PCE's potential in inducing/exacerbating an autoimmune response. Read More

    Understanding coping strategies among people living with scleroderma: a focus group study.
    Disabil Rehabil 2017 Aug 17:1-10. Epub 2017 Aug 17.
    a Lady Davis Institute for Medical Research , Jewish General Hospital , Montréal , Canada.
    Purpose: Systemic sclerosis or scleroderma is a chronic, rare connective tissue disease with negative physical and psychological implications. Coping strategies used by scleroderma patients have not been studied in-depth. The objective of the present study was to gain a greater understanding of the coping strategies employed by people living with scleroderma. Read More

    Nintedanib macrophage activation and ameliorates vascular and fibrotic manifestations in the Fra2 mouse model of systemic sclerosis.
    Ann Rheum Dis 2017 Aug 16. Epub 2017 Aug 16.
    Department of Internal Medicine 3 and Institute for Clinical Immunology, University of Erlangen-Nuremberg, Erlangen, Germany.
    Background: Nintedanib is an inhibitor targeting platelet-derived growth factor receptor, fibroblast growth factor receptor and vascular endothelial growth factor receptor tyrosine kinases that has recently been approved for the treatment of idiopathic pulmonary fibrosis. The aim of this study was to analyse the effects of nintedanib in the fos-related antigen-2 (Fra2) mouse model of systemic sclerosis (SSc).

    Methods: The effects of nintedanib on pulmonary arterial hypertension with proliferation of pulmonary vascular smooth muscle cells (PVSMCs) and luminal occlusion, on microvascular disease with apoptosis of microvascular endothelial cells (MVECs) and on fibroblast activation with myofibroblast differentiation and accumulation of extracellular matrix were analysed. Read More

    [Clinical and pathological characteristics of Erdheim-Chester disease involving the lungs].
    Zhonghua Jie He He Hu Xi Za Zhi 2017 Aug;40(8):604-610
    Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China.
    Objective: To explore the clinical manifestations, pathological features, differential diagnosis and gene mutation status in patients with pulmonary involvement of Erdheim-Chester disease (ECD). Methods: The clinical data of 4 cases of Erdheim-Chester disease admitted to Peking Union Medical College Hospital from October 2014 to August 2016 were examined for imaging, microscopic and immunohistochemitry findings, and BRAFV600E mutation. The related literatures were reviewed. Read More

    Inhibition of beta-catenin signaling in the skin rescues cutaneous adipogenesis in systemic sclerosis: a randomized, double blind, placebo-controlled trial of C-82.
    J Invest Dermatol 2017 Aug 11. Epub 2017 Aug 11.
    Rheumatology Division, Feinberg School of Medicine.
    Several studies have suggested that Wnts might contribute to skin fibrosis in systemic sclerosis (SSc) by affecting the differentiation of pluripotent dermal cells. We tested C-82, a therapeutic that inhibits canonical Wnt signaling by blocking the interaction of cAMP Response Element-Binding Protein with β-Catenin and inhibiting Wnt-activated genes. We utilized previously unreported trial design, formulating C-82 for topical application and conducting a placebo controlled, double-blinded clinical trial in which patients with diffuse cutaneous SSc were treated with C-82 or placebo on opposite forearms. Read More

    Structural and Neuronal Integrity Measures of Fatigue Severity in Multiple Sclerosis.
    Brain Sci 2017 Aug 12;7(8). Epub 2017 Aug 12.
    The Sastry Foundation Advanced Imaging Laboratory, Wayne State School of Medicine, 4201 St Antoine, Detroit 48201, MI, USA.
    Fatigue is a common and disabling symptom in Multiple Sclerosis (MS). However, consistent neuroimaging correlates of its severity are not fully elucidated. In this article, we study the neuronal correlates of fatigue severity in MS. Read More

    European Dermatology Forum S1-guideline on the diagnosis and treatment of sclerosing diseases of the skin, Part 1: localized scleroderma, systemic sclerosis and overlap syndromes.
    J Eur Acad Dermatol Venereol 2017 Aug 9. Epub 2017 Aug 9.
    Department of Dermatology and Venereology, University Hospital of Cologne, Cologne, Germany.
    The term 'sclerosing diseases of the skin' comprises specific dermatological entities, which have fibrotic changes of the skin in common. These diseases mostly manifest in different clinical subtypes according to cutaneous and extracutaneous involvement and can sometimes be difficult to distinguish from each other. The present guideline focuses on characteristic clinical and histopathological features, diagnostic scores and the serum autoantibodies most useful for differential diagnosis. Read More

    [THE ROLE OF SEMAPHORIN 7A IN SYSTEMIC SCLEROSIS].
    Harefuah 2017 Jul(1):418-421
    Division of Allergy and Clinical Immunology, Bnai Zion Medical Center, Faculty of Medicine, Technion, Haifa, Israel.
    Introduction: Semaphorins are a large group of membrane bound and secreted proteins. The semaphorins were first recognized for their important role in neurodevelopment and specifically their repulsive axonal growth guidance during embryonic development. Recently, semaphorins have also been found to have an important role in the regulation of the immune system, thus denoted as "immune semaphorins". Read More

    Left atrial phasic function and heart rate variability in patients with systemic sclerosis: A new part of the old puzzle.
    Echocardiography 2017 Aug 7. Epub 2017 Aug 7.
    Cardiology Department, University Clinical Hospital Center "Dr. Dragisa Misovic - Dedinje,", Belgrade, Serbia.
    Objective: We aimed to research left atrial (LA) phasic function and heart rate variability (HRV), as well as their relationship, in subjects with uncomplicated systemic sclerosis (SSc).

    Methods: The investigation involved 44 SSc patients and 33 age-matched healthy controls. All participants underwent clinical examination, serological tests, 24-hours Holter monitoring, and echocardiographic examination including strain analysis. Read More

    Adult's onset Still disease occurring during pregnancy: Case-report and literature review.
    Semin Arthritis Rheum 2017 Jul 10. Epub 2017 Jul 10.
    Service de Médecine Interne and Inflammation-Immunopathology-Biotherapy Department (DHU i2B), AP-HP, Hôpital Saint-Antoine, Sorbonne Universités, UPMC University Paris 06, F-75012, Paris, France.
    Introduction: Adult onset Still's disease is a rare affection classified among non-hereditary autoinflammatory diseases. We here report a case of AOSD revealed during pregnancy with a life-threatening presentation along with a review of 19 cases from literature.

    Case: A 38-years old woman was treated in our department for diffuse systemic sclerosis and associated Sjögren syndrome. Read More

    [Vitamin D metabolism and osteoporosis in systemic sclerosis].
    Orv Hetil 2017 Aug;158(32):1252-1258
    Reumatológiai Tanszék, Debreceni Egyetem, Általános Orvostudományi Kar Debrecen, Nagyerdei krt. 98., 4032.
    In the past few years more and more data have become available on the important role of vitamin D in immunological processes and inflammation. The role of vitamin D deficiency in the pathogenesis as well as in disease progression of different autoimmune and inflammatory conditions is suspected. Vitamin D deficiency is prevalent in several autoimmune diseases, including systemic sclerosis. Read More

    How I treat patients with systemic sclerosis in clinical practice.
    Autoimmun Rev 2017 Aug 1. Epub 2017 Aug 1.
    Rheumatology Unit, University Hospital, Padua, Italy. Electronic address:
    Systemic sclerosis (SSc) or scleroderma is a disorder of the connective tissue affecting the skin, and it is often associated with visceral involvement. The predominant pathological features of SSc are autoimmunity, vasculopathy, and fibrosis. Progressive fibrosis is associated with changes in the microcirculation of the involved organs. Read More

    Role of Anti-Receptor Autoantibodies in Pathophysiology of Scleroderma.
    Autoimmun Rev 2017 Aug 1. Epub 2017 Aug 1.
    Rheumatology Division, Department of Medicine, Georgetown University.
    The pathophysiology of SSc-mediated organ damage is complex and not well understood. Hallmarks of the disease include skin thickening, vasculopathy and gastrointestinal dysmotility. Diverse anti-nuclear antibodies can be used as biomarkers for classification and prognosis, but their role in producing tissue pathology/organ dysfunction is not established. Read More

    Autoimmune myocarditis in systemic sclerosis: an unusual form of scleroderma heart disease presentation.
    ESC Heart Fail 2017 Aug 22;4(3):365-370. Epub 2017 Apr 22.
    Coimbra Hospital and University Center, Cardiology Department, Coimbra, Portugal.
    Primary cardiac involvement in systemic sclerosis is common, often subclinical, and is associated with significant mortality. We report the case of a patient who developed autoimmune myocarditis at an early stage of systemic sclerosis, who completely recovered from cardiac dysfunction under optimal medical therapy for heart failure and immunosuppression. This challenging case aims at increasing awareness around the fact that the heart is a target organ of scleroderma disease. Read More

    Lymphocytic hidradenitis: A distinctive histopathological finding of annular erythema of Sjögren syndrome.
    Australas J Dermatol 2017 Aug 3. Epub 2017 Aug 3.
    College of Medicine, Chang Gung University, Taoyuan, Taiwan.
    Background/objectives: Lymphocytic hidradenitis is a non-specific histopathological feature observed in many dermatoses such as lupus erythematosus, morphea or scleroderma. When it occurs it is usually accompanied by the other distinctive histological features of those conditions. Isolated lymphocytic hidradenitis is uncommon and its clinical features and associated underlying medical conditions are still undetermined. Read More

    Timing of onset affects arthritis presentation pattern in antisyntethase syndrome.
    Clin Exp Rheumatol 2017 Jul 26. Epub 2017 Jul 26.
    Division of Rheumatology, University and IRCCS Policlinico S. Matteo Foudation, Pavia, Italy.
    Objectives: To evaluate if the timing of appearance with respect to disease onset may influence the arthritis presentation pattern in antisynthetase syndrome (ASSD).

    Methods: The patients were selected from a retrospective large international cohort of ASSD patients regularly followed-up in centres referring to AENEAS collaborative group. Patients were eligible if they had an antisynthetase antibody testing positive in at least two determinations along with arthritis occurring either at ASSD onset (Group 1) or during the course of the disease (Group 2). Read More

    Neuroimaging techniques to assess inflammation in Multiple Sclerosis.
    Neuroscience 2017 Jul 29. Epub 2017 Jul 29.
    Dipartimento di Neurologia e Psichiatria, Sapienza Università di Roma, 00185 Roma, Italy; IRCCS Neuromed, 86077 Pozzilli, IS, Italy.
    Multiple Sclerosis (MS) is a chronic neurological disease that represents a leading cause of disability in young adults and is characterized by inflammation and degeneration of both white matter (WM) and gray matter (GM). Defining the presence or absence of inflammation on individual basis is a key point in choosing the therapy and monitoring the treatment response. Magnetic resonance imaging (MRI) represents the most sensitive non-invasive tool to monitor inflammation in the clinical practice. Read More

    Scleroderma-related interstitial lung disease.
    Respir Med Case Rep 2017 15;22:109-112. Epub 2017 Jul 15.
    Department of Medicine, Division of Pulmonary, Critical Care and Sleep Medicine, University of Louisville Health Sciences Center, Louisville, KY, USA.
    Scleroderma-related interstitial lung disease (SSc-ILD) is a pulmonary fibrosing disorder characterized by systemic inflammation and progressive scarring of the lungs that leads to respiratory failure. Although certain immunosuppressive therapies may slow disease progression, current treatment strategies are not curative; consequently, SSc-ILD continues to be a major cause of morbidity and mortality. We present four cases of SSc-ILD that emphasize the importance of early screening and detection, close follow-up, and aggressive management. Read More

    A 55-year-old female with leukoencephalopathy with cerebral calcifications and cysts: Case report and radiopathologic description.
    Pathol Res Pract 2017 Jul 6. Epub 2017 Jul 6.
    Rush University Medical Center, Department of Pathology, 1653 West Congress Parkway, 570 Jelke, Chicago, IL 60612, USA.
    Adult-onset leukoencephalopathies with increased cerebral volume can present a potentially challenging diagnosis for the pathologist. We present the case of a patient with a rare adult-onset disease called Leukoencephalopathy with cerebral Calcifications and Cysts (LCC). A 55-year-old woman with a history of morning headaches, mild memory loss, diabetes, and hypertension presented to the emergency department with acute onset altered mental status. Read More

    Quartz Crystal Microbalance Assay of Clinical Calcinosis Samples and Their Synthetic Models Differentiates the Efficacy of Chelation-Based Treatments.
    ACS Appl Mater Interfaces 2017 Aug 15. Epub 2017 Aug 15.
    Manchester Institute of Biotechnology, University of Manchester , 131 Princess Street, Manchester, M1 7DN, U.K.
    This paper sets out in vitro protocols for studying the relative effectiveness of chelators used in the dissolution-based treatment of hard calcinosis. Pulverized hard calcinosis samples from human donors or synthetic hydroxyapatite nanoparticles were deposited by electrophoretic deposition on the surface of a quartz crystal microbalance sensor. Over 150 deposits of <20 μg were dissolved over the course of 1 h by aliquots of buffered, aqueous solutions of two calcium chelators, EDTA and citrate, with the surface-limited dissolution kinetics monitored with <1 s time resolution. Read More

    Localized pigmentation disorder after subcutaneous pegylated interferon beta-1a injection.
    Mult Scler 2017 Jul 1:1352458517708465. Epub 2017 Jul 1.
    Multiple Sclerosis Center, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
    We report the case of a 42-year-old female patient who developed peculiar skin lesions due to subcutaneous polyethylene glycol (PEG) interferon beta-1a. The dermatological examination showed hypochromic macules that had coalesced into a 10-cm-diameter patch. On the abdomen injection sites, there was a greyish diffuse hyperpigmentation arranged irregularly in annular macules. Read More

    Risk factors and outcome of Thai patients with scleroderma renal crisis: a disease duration-matched case control study.
    Int J Rheum Dis 2017 Jul 27. Epub 2017 Jul 27.
    Division of Nephrology, Department of Internal Medicine, Chiang Mai University, Chiang Mai, Thailand.
    Introduction: Data regarding the prevalence, risk factors and outcome of scleroderma renal crisis (SRC) in Asian patients with systemic sclerosis (SSc) are limited.

    Objective: To determine the prevalence, risk factors and outcomes of SRC in Thai SSc patients.

    Method: Medical records of all SSc patients seen at the Division of Rheumatology, Chiang Mai University, Thailand, from January 1990 to December 2015 were retrospectively reviewed. Read More

    Disease-related autoantibody profile in patients with systemic sclerosis.
    Autoimmunity 2017 Jul 27:1-8. Epub 2017 Jul 27.
    a Department of Rheumatology and Clinical Immunology , Faculty of Medicine, School of Health Sciences, University of Thessaly , Larissa , Greece.
    Background: Autoantibodies (autoAbs) help in diagnosis and predicting clinical phenotypes in systemic sclerosis (SSc).

    Aim Of The Study: To determine the clinical utility of 13 SSc-related autoAbs in SSc patients.

    Material And Methods: A total of 131 consecutive patients with SSc (111 female, mean age 58. Read More

    Are there risk factors for scleroderma-related calcinosis?
    Mod Rheumatol 2017 Jul 19:1-5. Epub 2017 Jul 19.
    b Department of Medicine, Division of Rheumatology and Connective Tissue Research , Rutgers-Robert Wood Johnson Medical School , New Brunswick , NJ , USA.
    Objectives: Pathogenesis and risk factors of scleroderma associated calcinosis is poorly understood and there is no effective treatment. This study was performed to better understand the prevalence and clinical features associated with calcinosis in a cohort of SSc outpatients.

    Methods: In this cross-sectional study, we compared clinical characteristics of SSc patients with (SSc-calcinosis) and without calcinosis (SSc-control) seen in the outpatient Rutgers-RWJ Scleroderma Program between 2012 and 2015. Read More

    Hemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report.
    BMC Nephrol 2017 Jul 18;18(1):243. Epub 2017 Jul 18.
    Baylor College of Medicine, Department of Pediatrics, Renal Section, Houston, TX, USA.
    Background: Hemolytic uremic syndrome (HUS) can occur as a primary process due to mutations in complement genes or secondary to another underlying disease. HUS sometimes occurs in the setting of glomerular diseases, and it has been described in association with Denys-Drash syndrome (DDS), which is characterized by the triad of abnormal genitourinary development; a pathognomonic glomerulopathy, diffuse mesangial sclerosis; and the development of Wilms tumor.

    Case Presentation: We report the case of a 46, XX female infant who presented with HUS and biopsy-proven thrombotic microangiopathy. Read More

    Intestinal microbiome in scleroderma: recent progress.
    Curr Opin Rheumatol 2017 Jul 15. Epub 2017 Jul 15.
    Department of Medicine, University of California, David Geffen School of Medicine, California, Los Angeles, USA.
    Purpose Of Review: Our evolving understanding of how gut microbiota affects immune function and homeostasis has led many investigators to explore the potentially pathologic role of gut microbiota in autoimmune diseases. This review will discuss the rapidly advancing field of microbiome research in systemic sclerosis (SSc), an incurable autoimmune disease with significant gastrointestinal morbidity and mortality.

    Recent Findings: Recent reports have identified common perturbations in gut microbiota across different SSc cohorts. Read More

    Silent myocarditis in systemic sclerosis detected by cardiovascular magnetic resonance using Lake Louise criteria.
    BMC Cardiovasc Disord 2017 Jul 17;17(1):187. Epub 2017 Jul 17.
    Onassis Cardiac Surgery Center, 50 Esperou Street, 175-61 P.Faliro, Athens, Greece.
    Background: Systemic sclerosis (SSc) is an autoimmune disease characterized by microvascular abnormalities, inflammation and fibrosis. We hypothesized that myocarditis may be diagnosed in asymptomatic SSc, undergoing routine cardio-vascular magnetic resonance (CMR) for fibrosis assessment, using the Lake Louise criteria: T2 ratio, early (EGE) and late gadolinium enhanced (LGE) images.

    Methods: Eighty-two asymptomatic SSc, diagnosed according to American College of Rheumatology criteria, aged 43 ± 5 yrs. Read More

    Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review.
    Clin Rev Allergy Immunol 2017 Jul 16. Epub 2017 Jul 16.
    Section of Dermatology, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
    Scleroderma refers to an autoimmune connective tissue fibrosing disease, including three different subsets: localized scleroderma, limited cutaneous systemic sclerosis, and diffuse cutaneous systemic sclerosis with divergent patterns of organ involvement, autoantibody profiles, management, and prognostic implications. Although systemic sclerosis is considered the disease prototype that causes cutaneous sclerosis, there are many other conditions that can mimic and be confused with SSc. They can be classified into immune-mediated/inflammatory, immune-mediated/inflammatory with abnormal deposit (mucinoses), genetic, drug-induced and toxic, metabolic, panniculitis/vascular, and (para)neoplastic disorders according to clinico-pathological and pathogenetic correlations. Read More

    Assessment of English-French differential item functioning of the Satisfaction with Appearance Scale (SWAP) in systemic sclerosis.
    Body Image 2017 Jul 13;22:97-102. Epub 2017 Jul 13.
    Departments of Educational and Counselling Psychology; Psychiatry; Medicine; Epidemiology, Biostatistics, and Occupational Health; and Psychology, McGill University and Lady Davis Institute for Medical Research, Jewish General Hospital, Montréal, Québec, Canada.
    The Satisfaction with Appearance Scale (SWAP) has been used to assess body image distress among people with the rare and disfiguring disease systemic sclerosis (SSc); however, it has not been validated across different languages groups. The objective was to examine differential item functioning of the SWAP among 856 Canadian English- or French-speaking SSc patients. Confirmatory factor analysis was used to evaluate the SWAP two-factor structure (Dissatisfaction with Appearance and Social Discomfort). Read More

    Cortical influences drive amyotrophic lateral sclerosis.
    J Neurol Neurosurg Psychiatry 2017 Jul 14. Epub 2017 Jul 14.
    Brain and Mind Centre, The University of Sydney, Sydney, NSW, Australia.
    The early motor manifestations of sporadic amyotrophic lateral sclerosis (ALS), while rarely documented, reflect failure of adaptive complex motor skills. The development of these skills correlates with progressive evolution of a direct corticomotoneuronal system that is unique to primates and markedly enhanced in humans. The failure of this system in ALS may translate into the split hand presentation, gait disturbance, split leg syndrome and bulbar symptomatology related to vocalisation and breathing, and possibly diffuse fasciculation, characteristic of ALS. Read More

    Time-dependent evolution of seizures in a model of mesial temporal lobe epilepsy.
    Neurobiol Dis 2017 Oct 12;106:205-213. Epub 2017 Jul 12.
    Montreal Neurological Institute, Department of Neurology & Neurosurgery, McGill University, 3801 University Street, Montréal, QC H3A 2B4, Canada; Montreal Neurological Institute, Department Physiology, McGill University, 3801 University Street, Montréal, QC H3A 2B4, Canada. Electronic address:
    Low-voltage fast (LVF) and hypersynchronous (HYP) - onset seizures occur in the EEG obtained with depth electrodes from mesial temporal lobe epilepsy (MTLE) patients and animal models. In epileptic rats analyzed up to approximately two weeks after pilocarpine-induced status epilepticus (SE), these patterns are associated with specific high-frequency oscillation (HFO) content: ripples (80-200Hz) or fast-ripples (250-500Hz) predominate in LVF or HYP seizures, respectively. To establish whether these features change over the course of the disease, we recorded the EEG from the hippocampal CA3 subfield, subiculum, entorhinal cortex and dentate gyrus in two groups of pilocarpine-treated rats: the "early stage group" (n=8) was analyzed from day 3 to 20 post-SE while the "late stage group" (n=7) was studied from day 27 to 53 post-SE. Read More

    Changes in pulmonary exercise haemodynamics in scleroderma: a 4-year prospective study.
    Eur Respir J 2017 Jul 13;50(1). Epub 2017 Jul 13.
    Dept of Internal Medicine, Division of Pulmonology, Medical University of Graz, Graz, Austria.
    Pulmonary arterial hypertension (PAH) is a feared complication of systemic sclerosis. In this prospective cohort study, we monitored the changes in resting and exercise pulmonary haemodynamics of scleroderma patients without initial PAH over a mean follow-up period of ∼4 years.All patients underwent exercise echocardiography and cardiopulmonary exercise testing at baseline and follow-up. Read More

    International consensus: What else can we do to improve diagnosis and therapeutic strategies in patients affected by autoimmune rheumatic diseases (rheumatoid arthritis, spondyloarthritides, systemic sclerosis, systemic lupus erythematosus, antiphospholipid syndrome and Sjogren's syndrome)?: The unmet needs and the clinical grey zone in autoimmune disease management.
    Autoimmun Rev 2017 Sep 11;16(9):911-924. Epub 2017 Jul 11.
    Department of Pathophysiology, University of Athens, Athens, Greece.
    Autoimmune diseases are a complex set of diseases characterized by immune system activation and, although many progresses have been done in the last 15years, several unmet needs in the management of these patients may be still identified. Recently, a panel of international Experts, divided in different working groups according to their clinical and scientific expertise, were asked to identify, debate and formulate a list of key unmet needs within the field of rheumatology, serving as a roadmap for research as well as support for clinicians. After a systematic review of the literature, the results and the discussions from each working group were summarised in different statements. Read More

    [Systemic sclerosis and occupational difficulties: Results of a prospective study].
    Rev Med Interne 2017 Jul 10. Epub 2017 Jul 10.
    Service de pathologies professionnelles et maintien en emploi, CHRU de Lille, Lille, France; Laboratoire de recherche, EA4487 axe droit/santé-travail, Lille, France. Electronic address:
    Between 9000 and 14000 people have systemic sclerosis (ScS) in France. The work is often affected. Our study aims to assess the frequency of professional difficulties (DP) of scleroderma patients, identify these DP, the symptoms involved and the solutions used. Read More

    Treatment of connective tissue disease-associated interstitial lung disease: the pulmonologist's point of view.
    Korean J Intern Med 2017 Jul 30;32(4):600-610. Epub 2017 Jun 30.
    Division of Allergy and Respiratory Medicine, Department of Internal Medicine, Soon Chun Hyang University Seoul Hospital, Seoul, Korea.
    Interstitial lung disease (ILD) occurs in 15% of patients with collagen vascular disease (CVD), referred to as connective tissue disease (CTD). Despite advances in management strategies, ILD continues to be a significant cause of mortality in patients with CVD-associated ILD (CTD-ILD). There is a lack of randomized, clinical trials assessing pharmacological agents for CTD-ILD, except in cases of ILD-associated systemic sclerosis (SSc). Read More

    Phototherapy in systemic sclerosis: Review.
    Photodermatol Photoimmunol Photomed 2017 Jul 13. Epub 2017 Jul 13.
    Division of Dermatology, Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.
    Systemic scleroderma-also known as systemic sclerosis (SSc)-is a chronic systemic connective tissue disease characterized by collagen deposition in cutaneous and internal organs, leading to skin sclerosis and multiple organ fibrosis. The pathogenesis is complex and remains poorly understood. Treatment is based on organ involvement and requires a multidisciplinary approach. Read More

    Autoamputation and Polyneuropathy in Mixed Connective Tissue Disorder: A Case Report.
    Cureus 2017 Jun 5;9(6):e1313. Epub 2017 Jun 5.
    Department of Medicine, Jinnah Postgraduate Medical Center Karachi Pakistan.
    Mixed connective tissue disorder (MCTD) is a multisystem disease with overlapping features of other autoimmune diseases, such as systemic lupus erythematosus (SLE), myositis, rheumatoid arthritis, and scleroderma. MCTD presents with a distinctive antibody in serum known as U1-ribonucleoprotein (RNP). MCTD is quite rare as compared to other connective tissue disorders like SLE, systemic sclerosis, dermatomyositis, and polymyositis. Read More

    Somatostatin receptor expression in lymphomas: a source of false diagnosis of neuroendocrine tumor at (68)Ga-DOTANOC PET/CT imaging.
    Acta Oncol 2017 Jul 7:1-7. Epub 2017 Jul 7.
    b Turku PET Centre, Turku University Hospital, University of Turku , Turku , Finland.
    Background: (68)Ga-DOTANOC PET/CT is routinely used to image neuroendocrine tumors (NETs). A case of lymphoma initially thought to be NET based on a positive (68)Ga-DOTANOC PET/CT was recently seen at our institution. This prompted us to determine prospectively somatostatin receptor (SSTR) status in patients with lymphoma by immunohistochemical analysis of SSTR subtypes 2, 3 and 5 (SSTR2,3,5) and (68)Ga-DOTANOC PET/CT imaging. Read More

    The "myth" of loss of angiogenesis in systemic sclerosis: a pivotal early pathogenetic process or just a late unavoidable event?
    Arthritis Res Ther 2017 Jul 6;19(1):162. Epub 2017 Jul 6.
    Department of Experimental and Clinical Medicine, Division of Rheumatology and Scleroderma Unit, Azienda Ospedaliera Universitaria Careggi, University of Florence, Viale Pieraccini 18, 50139, Florence, Italy.
    Systemic sclerosis is considered a disease dominated by a "loss of angiogenesis", although in its early phases evidence indicates a disturbed angiogenic response only. In fact, microvascular changes are primarily due to endothelial cell injury, triggering downstream significant enlargement of the capillary in an inflammatory environment, followed by capillary rupture (microhemorrhages). Subsequent pro-angiogenic efforts lead to an aberrant angiogenesis and, eventually, to a total loss of vessel repair and regeneration (loss of angiogenesis). Read More

    Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations.
    BMC Nephrol 2017 Jul 6;18(1):220. Epub 2017 Jul 6.
    Department of Pediatrics, Kansai Medical University, 2-5-1 Shimachi, Hirakata, Osaka, 573-1010, Japan.
    Background: Congenital nephrotic syndrome (CNS) is a rare disorder caused by various structural and developmental defects of glomeruli. It occurs typically as an isolated kidney disorder but associates sometimes with other systemic, extrarenal manifestations.

    Case Presentations: An infant presented with severe CNS, which progressed rapidly to renal failure at age of 3 months and death at 27 months. Read More

    Physico-Pathologic Mechanisms Involved in Neurodegeneration: Misfolded Protein-Plasma Membrane Interactions.
    Neuron 2017 Jul;95(1):33-50
    École Normale Supérieure, Institut de Biologie de l'ENS (IBENS), INSERM, CNRS, PSL Research University, 46 Rue d'Ulm, 75005 Paris, France. Electronic address:
    Several neurodegenerative disorders, such as Alzheimer's and Parkinson's disease, are characterized by prominent loss of synapses and neurons associated with the presence of abnormally structured or misfolded protein assemblies. Cell-to-cell transfer of misfolded proteins has been proposed for the intra-cerebral propagation of these diseases. When released, misfolded proteins diffuse in the 3D extracellular space before binding to the plasma membrane of neighboring cells, where they diffuse on a 2D plane. Read More

    IL-9 over-expression and Th9 polarization in Systemic Sclerosis patients.
    Clin Exp Immunol 2017 Jul 6. Epub 2017 Jul 6.
    Dipartimento Biomedico di Medicina Interna e Specialistica, Sezione di Reumatologia, Università di Palermo, Palermo.
    Th9 cells and IL-9 are involved in the pathogenesis of several autoimmune diseases. The exact role of IL-9 and Th9 cells in patients with Systemic Sclerosis (SSc) has not been yet adequately studied. IL-9, IL-9R, transcription factor PU. Read More

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