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Sample records for systemic sclerosis patients

  1. Clinical presentation in patients with systemic sclerosis

    International Nuclear Information System (INIS)

    Silvarino, R.; Rebella, M.; Alonso, J.; Cairoli, E.

    2009-01-01

    Introduction: systemic sclerosis is an autoimmune disease characterized by endothelial damage, and skin, vessel and internal organ fibrosis and inflammation. There are differences in terms of frequency, severity and prognosis for the different ethnic groups, what reinforces the importance of the study in each geographical region with the purpose of enabling early diagnosis of its incipient symptoms.Methods: we conducted a descriptive and retrospective study form March 2006 through March 2008, including patients with a final diagnosis of systemic sclerosis, who are treated at the Systemic Autoimmune Diseases Unit at the Clinicas Hospital. Results: 31 women were included in the study, average follow-up of patients was 39.2 months, and average age at the time of diagnosis was 47.6 years. Eleven patients (35,5) presented diffuse disease and 20 (64.5) of them evidenced limited disease. Thirty patients presented Raynaud's phenomenon. In 92 of cases capilaroscopy showed a sclerodermiform pattern. In terms of the respiratory system, we found interstitial pathology in 25 of cases, pulmonary arterial hypertension in 22.2 and are restrictive pattern in respiratory function studies in 35.5. Also, 67.7 presented digestive manifestations and 9.6 developed sclerodermic renal crisis. We found anti-nuclear antibodies (ANA) in 29 out of 31 patients (93,5) patients; 16 presented anticentromere antibodies and five anti-topoisomerasa-I antibodies. The four patients (12.9)who died during follow-up presented common elements such as diffuse sclerosis, digital ulcers and severe respiratory compromise. Conclusions: the clinical and immune characteristics found in our study were similar to those described in other series. Should there be no specific treatment, it is essential to perform regular assessment of visceral impact in order to control and delay complications which result in high morbimortality rates. (author) [es

  2. Congestive cardiac failure in a patient with systemic sclerosis: Case ...

    African Journals Online (AJOL)

    Congestive cardiac failure in a patient with systemic sclerosis: Case report and literature review. ... The presence of CCF in patients with SSe is a poor prognostic marker and cause of mortality and morbidity, ... not been reported in Nigerians. Keywords: Systemic sclerosis; Primary Cardiac Disease; Heart failure; Nigerians ...

  3. Gastrointestinal transit in patients with systemic sclerosis.

    Science.gov (United States)

    Fynne, Lotte; Worsøe, Jonas; Gregersen, Tine; Schlageter, Vincent; Laurberg, Søren; Krogh, Klaus

    2011-10-01

    Systemic sclerosis (SSc) is an autoimmune disease characterized by fibrosis and collagen deposits. Gastrointestinal symptoms of SSc, including abdominal pain, bloating and discomfort, are common but diffuse and their pathophysiology remains obscure. To investigate the pathophysiology of abdominal pain and discomfort in individuals with SSc. A total of 15 individuals with SSc (13 women, median age 58 years), all suffering from diffuse abdominal symptoms, and 17 healthy volunteers (12 women, median age 52 years) were evaluated with the Motility Tracking System, MTS-1, measuring gastric emptying (GE) and velocity through the small intestine. SSc patients were also examined for bacterial overgrowth using the hydrogen breath test and with radiopaque markers to determine the total gastrointestinal transit time (GITT). Assessed with the MTS-1, the velocity through the proximal small intestine was significantly reduced in SSc patients (median 0.525 m/h, range 0.11-1.15) when compared to healthy subjects (median 0.91 m/h, range 0.51-1.74) (p = 0.02). Prolonged GE was found in 4 SSc patients (27%) but in none of the healthy volunteers (p = 0.04). Only 3 SSc patients (21%) had positive breath tests for small intestinal bacterial overgrowth. GITT was >3 days in 8 patients (53%). Slow small intestinal transit was associated with a prolonged GITT (p < 0.05). Velocity through the small intestine is significantly reduced in SSc patients with diffuse abdominal symptoms.

  4. Brain magnetic resonance imaging findings in patients with systemic sclerosis.

    Science.gov (United States)

    Mohamed, Reem H A; Nassef, Amr A

    2010-02-01

    Systemic sclerosis is a multisystem disease where functional and structural abnormalities of small blood vessels prevail. Recently, transient ischemic attacks, ischemic stroke, and hemorrhages have been reported as primary consequence of vascular central nervous system affection in systemic sclerosis. Magnetic resonance imaging (MRI) is considered to be the most sensitive diagnostic technique for detecting symptomatic and asymptomatic lesions in the brain in cases of multifocal diseases. Evaluate brain changes in patients with systemic sclerosis using MRI. Thirty female patients with systemic sclerosis aged 27-61 years, with disease duration of 1-9 years and with no history of other systemic disease or cerebrovascular accidents, were enrolled. An age-matched female control group of 30 clinically normal subjects, underwent brain MR examination. Central nervous system involvement in the form of white matter hyperintense foci of variable sizes were found in significantly abundant forms in systemic sclerosis patients on MR evaluation than in the age-related control group, signifying a form of central nervous system vasculopathy. Such foci showed no definite correlation with disease duration, yet they showed significant correlation to severity of peripheral vascular disease, headaches, fainting attacks and depression in the group under study. Asymptomatic as well as symptomatic central nervous system ischemic vasculopathy is not uncommon in systemic sclerosis patients and MRI is considered a sensitive noninvasive screening tool for early detection of CNS involvement in patients with systemic sclerosis.

  5. Nutritional support in patients with systemic sclerosis.

    Science.gov (United States)

    Ortiz-Santamaria, Vera; Puig, Celia; Soldevillla, Cristina; Barata, Anna; Cuquet, Jordi; Recasens, Asunción

    2014-01-01

    Systemic sclerosis (SSc) is a chronic multisystem autoimmune disease which involves the gastrointestinal tract in about 90% of cases. It may contribute to nutritional deterioration. To assess whether the application of a nutritional support protocol to these patients could improve their nutritional status and quality of life. Single center prospective study, performed on an outpatient basis, in a county hospital. The Malnutrition Universal Screening Tool (MUST) was used to screen risk for malnutrition. Health questionnaire SF-36 and the Hospital Anxiety and Depression Scale were used to assess quality of life and psychopathology respectively. Weight, height, energy and protein requirements, macronutrient intake and nutritional biochemical parameters were evaluated. Nutritional intervention was performed in patients at risk for malnutrition. Of the 72 patients, 12.5% were at risk for malnutrition. Iron deficiency anemia (18.35%) and vitamin D deficiency (54%) were the most frequently observed nutritional deficits. The questionnaires on psychopathology and quality of life showed a high prevalence of anxiety and depression, and lower level poor quality of life in the physical and mental component. No significant improvements were observed in the weight, food intake, nutritional biochemical parameters, psychopathology and quality of life follow-up. Dietary intervention was able to maintain body weight and food intake. Iron deficiency anemia and vitamin D deficiency improved with iron and vitamine D supplements. No deterioration was observed in psychological assessment or quality of life. Studies with larger numbers of patients are needed to assess the efficacy of this intervention. Copyright © 2013 Elsevier España, S.L.U. All rights reserved.

  6. Systemic sclerosis in a patient with pityriasis rubra pilaris | Frikha ...

    African Journals Online (AJOL)

    Pityriasis rubra pilaris (PRP) is a rare, chronic erythematous squamous disorder of unknown etiology. It has been found in association with several autoimmune diseases, including thyroiditis, myositis, myasthenia gravis and vitiligo. Herein we report a case of systemic sclerosis in a patient with classic adult pityriasis rubra ...

  7. Small intestinal bacterial overgrowth in patients with systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Saara Rawn

    2017-01-01

    Full Text Available Small intestinal bacterial overgrowth (SIBO is common in patients with systemic sclerosis (SSc yet often goes underrecognized in clinical practice. In patients with SSc, untreated SIBO may result in marked morbidity and possible mortality. The pathogenesis of SIBO is multifactorial and relates to immune dysregulation, vasculopathy, and dysmotility. This article reviews various diagnostic approaches and therapeutic options for SIBO. Treatment modalities mainly include prokinetics, probiotics, and antibiotics.

  8. Antiphospholipid Syndrome - A Case Report of Pulmonary Thromboembolism, Followed with Acute Myocardial Infarction in Patient with Systemic Sclerosis

    Directory of Open Access Journals (Sweden)

    Marija Vavlukis

    2015-11-01

    CONCLUSION: The acquired antiphospholipid syndrome is common condition in patients with systemic autoimmune diseases, but relatively rare in patients with systemic sclerosis. Never the less, we have to be aware of it when treating the patients with systemic sclerosis.

  9. A longitudinal study of pulmonary function in Danish patients with systemic sclerosis

    DEFF Research Database (Denmark)

    Jacobsen, Søren; Halberg, P; Ullman, S

    1997-01-01

    To determine the types, prevalence and development of respiratory abnormalities in patients with systemic sclerosis (SSc), and to correlate the results with clinical and serological findings.......To determine the types, prevalence and development of respiratory abnormalities in patients with systemic sclerosis (SSc), and to correlate the results with clinical and serological findings....

  10. Presentation of pain in patients suffering from systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Janković Katarina

    2016-01-01

    Full Text Available Introduction: Systemic sclerosis (SSc is a chronic autoimmune disease with very heterogeneous clinical manifestations. There are not many studies which directly research the pain experienced by patients with SSc. Aim: Evaluation of pain in patients with verified systemic sclerosis; making comparison in the two subsets of SSc (diffuse and limited and in the anti-centromere antibodies (ACA and anti-topoisomerase-I antibodies (ATA detected in patients. Material and methods: The study group included 42 patients with SSc. The research was conducted at the Institute of Rheumatology in Belgrade. Each patient was asked to complete the questionnaire, which included the questions about frequency, location and intensity of the pain. Two statistical methodologies were used in the data analysis: descriptive and analytical statistics. Results: Most of the patients (93% confirmed they had some kind of pain . Arthralgia was the most common pain symptom (78,6%, 29 (69% suffered from pain during Raynaud phenomenon, the back pain was found in 20 (47,6%, a headache in 13 (31%, the chest pain in 10 (23,8%, odynophagia in 9 (21,4% and in 8 (19% patients painful digital ulcers. The pain from digital ulcers was rated as the most intensive with the average value of 8,5/10. The patients with diffuse subset of SSc had a higher average intensity score of arthralgia (7,6, compared to those with limited SSc (5,5. The statistically significant difference in the frequency and intensity of the pain in the patients with anti-topoisomerase-I antibodies and the patients with anti-centromere antibodies was not found. Conclusion: Most of the patients suffer from some kind of pain. The most common pain was arthralgia, and the most intensive one was from digital ulcers, although it was the rarest. The pain frequency and intensity were not significantly different in patients with anti-topoisomerase-I and anti-centromere antibodies. There was a statisticaly significant difference in the

  11. Brain MRI screening showing evidences of early central nervous system involvement in patients with systemic sclerosis.

    Science.gov (United States)

    Mohammed, Reem Hamdy A; Sabry, Yousriah Y; Nasef, Amr A

    2011-05-01

    Systemic sclerosis is a multisystem autoimmune collagen disease where structural and functional abnormalities of small blood vessels prevail. Transient ischemic attacks, ischemic stroke, and hemorrhage have been reported as primary consequence of vascular central nervous system affection in systemic sclerosis. Magnetic resonance imaging is considered to be the most sensitive diagnostic technique for detecting symptomatic and asymptomatic lesions in the brain in cases of multifocal diseases. The objective of this study is to detect subclinical as well as clinically manifest cerebral vasculopathy in patients with systemic sclerosis using magnetic resonance imaging. As much as 30 female patients with systemic sclerosis aged 27-61 years old, with disease duration of 1-9 years and with no history of other systemic disease or cerebrovascular accidents, were enrolled. Age-matched female control group of 30 clinically normal subjects, underwent brain magnetic resonance examination. Central nervous system (CNS) involvement in the form of white matter hyperintense foci of variable sizes were found in significantly abundant forms in systemic sclerosis patients on magnetic resonance evaluation than in age-related control group, signifying a form of CNS vasculopathy. Such foci showed significant correlation to clinical features of organic CNS lesion including headaches, fainting attacks and organic depression as well as to the severity of peripheral vascular disease with insignificant correlation with disease duration. In conclusion, subclinical as well as clinically manifest CNS ischemic vasculopathy is not uncommon in systemic sclerosis patients and magnetic resonance imaging is considered a sensitive noninvasive screening tool for early detection of CNS involvement in patients with systemic sclerosis.

  12. Plasma D-dimer concentration in patients with systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Montagnana Martina

    2006-01-01

    Full Text Available Abstract Background Systemic sclerosis (SSc is an autoimmune disorder of the connective tissue characterized by widespread vascular lesions and fibrosis. Little is known so far on the activation of the hemostatic and fibrinolytic systems in SSc, and most preliminary evidences are discordant. Methods To verify whether SSc patients might display a prothrombotic condition, plasma D-dimer was assessed in 28 consecutive SSc patients and in 33 control subjects, matched for age, sex and environmental habit. Results and discussion When compared to healthy controls, geometric mean and 95% confidence interval (IC95% of plasma D-dimer were significantly increased in SSc patients (362 ng/mL, IC 95%: 361–363 ng/mL vs 229 ng/mL, IC95%: 228–231 ng/mL, p = 0.005. After stratifying SSc patients according to disease subset, no significant differences were observed between those with limited cutaneous pattern and controls, whereas patients with diffuse cutaneous pattern displayed substantially increased values. No correlation was found between plasma D-dimer concentration and age, sex, autoantibody pattern, serum creatinine, erythrosedimentation rate, nailfold videocapillaroscopic pattern and pulmonary involvement. Conclusion We demonstrated that SSc patients with diffuse subset are characterized by increased plasma D-dimer values, reflecting a potential activation of both the hemostatic and fibrinolytic cascades, which might finally predispose these patients to thrombotic complications.

  13. Comprehensive approach to systemic sclerosis patients during pregnancy.

    Science.gov (United States)

    Rueda de León Aguirre, Alexandra; Ramírez Calvo, José Antonio; Rodríguez Reyna, Tatiana Sofía

    2015-01-01

    Systemic sclerosis (SSc) is a connective tissue disease that usually affects women, with a male:female ratio of 1:4-10. It was thought that there was a prohibitive risk of fatal complications in the pregnancies of patients with SSc. It is now known that the majority of these women undergo a normal progression of pregnancy if the right time is chosen and a close obstetric care is delivered. The obstetric risk will depend on the subtype and clinical stage of the disease, and the presence and severity of the internal organ involvement during the pregnancy. The management of these pregnancies should be provided in a specialized center, with a multidisciplinary team capable of identifying and promptly treating complications. Treatment should be limited to drugs with no teratogenic potential, except when renal crises or severe cardiovascular complications develop. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  14. [The treatment of skin ulcers in patients with systemic sclerosis].

    Science.gov (United States)

    Fiori, G; Amanzi, L; Moggi Pignone, A; Braschi, F; Matucci-Cerinic, M

    2004-01-01

    Systemic Sclerosis (Ssc) is a complex disease of the connective tissue, characterized by progressive thickening and fibrosis of the skin and the internal organs and by diffused damage of the microvascular system. The fibrosis ones of the skin associated to the characteristic vascular alterations lead to the genesis of ulcers, more or less extended, often multiple, peripheral localization, chronic course, painful, able to influence patient's quality of life. Indeed, immunity reactivity, the thinning and the loss of elasticity of the skin, the peripheral neurological damage and the eventual drug assumption that can reduce regenerative/reparative abilities, can easily make an ulcer chronic and become infected complicating still more the patient disease, rendering more difficult the cure often, ulcer evolves to gangrene, and in some cases, in amputation too. For all these reasons, we have begun to study ulcers therapy (local and systemic), considering this activity it leave integrating of the charitable distance of the sclerodermic patient, putting to point on strategy both diagnostic and therapeutic, but above all with the primary scope, if possible, is to prevent ulcers, in contrary case, to alleviate the pain and to render the quality of the life of the patient better.

  15. Need for online information and support of patients with Systemic Sclerosis

    NARCIS (Netherlands)

    van der Vaart, R.; Repping-Wuts, Han; Drossaert, Constance H.C.; Taal, Erik; Knaapen-Hans, Hanneke K.A.; van de Laar, Mart A F J

    2013-01-01

    Objective Interactive health communication applications (IHCAs) offer interesting possibilities to support systemic sclerosis (SSc) patients, since SSc is an uncommon, severe disease that needs a multidisciplinary treatment. This study aimed to investigate patients' needs for a hospital-based IHCA.

  16. The treatment of skin ulcers in patients with systemic sclerosis

    Directory of Open Access Journals (Sweden)

    M. Matucci- Cerinic

    2011-09-01

    Full Text Available Systemic Sclerosis (Ssc is a complex disease of the connective tissue, characterized by progressive thickening and fibrosis of the skin and the internal organs and by diffused damage of the microvascular system. The fibrosis ones of the skin associated to the characteristic vascular alterations lead to the genesis of ulcers, more or less extended, often multiple, peripheral localization, chronic course, painful, able to influence patient’s quality of life. Indeed, immunity reactivity, the thinning and the loss of elasticity of the skin, the peripheral neurological damage and the eventual drug assumption that can reduce regenerative/reparative abilities, can easy chronicizzate an ulcer and become infected complicating still more the patient disease, rendering more difficult the cure often, ulcer evolves to gangrene, and in some cases, in amputation too. For all these reasons, we have begun to study ulcers therapy (local and systemic, considering this activity it leave integrating of the charitable distance of the sclerodermico patient, putting to point on strategy both diagnostic and therapeutic, but above all with the primary scope, if possible, is to prevent ulcers, in contrary case, to alleviate the pain and to render the quality of the life of the patient better.

  17. Circulating angiostatin serum level in patients with systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Zofia Gerlicz-Kowalczuk

    2017-12-01

    Full Text Available Introduction : Systemic sclerosis (SSc is achronic connective tissue disease characterized by microangiopathy with inadequate angiogenesis. Angiostatin (AS is a potent antiangiogenic factor specifically inhibiting proliferation and inducing apoptosis of vascular endothelial cells. Aim : To evaluate the level of angiostatin in the serum of patients with SSc. Material and methods : Serum levels of AS were measured in 20 SSc patients and 12 healthy controls. Results : A statistically significant difference in the serum levels of AS in SSc patients was observed compared to the control group (636.51 vs. 869.20 ng/ml; p = 0.012. Significant correlations between limited and disseminated SSc (lSSc/dSSc were not found, however, a difference between lSSc and the control group was demonstrated (620.00 vs. 869.20 ng/ml; p = 0.011. The serum level of AS was not associated positively with organ changes caused by SSc. However, a statistically significant lower serum level of AS was observed in patients with SSc and no esophageal (p = 0.008 or pulmonary changes (p = 0.007 compared to the control group. Conclusions : Our results reveal significant differences in AS level in SSc patients compared to the healthy controls, and suggest that a low level of AS may occur as a result of impaired angiogenesis.

  18. Psychosocial issues and care for patients with systemic sclerosis

    NARCIS (Netherlands)

    Jewett, L.R.; Kwakkenbos, C.M.C.; Delisle, V.C.; Levis, B.; Thombs, B.D.; Varga, J.; Denton, C.P.; Wigley, F.M.; Allanore, Y.; Kuwana, M.

    2016-01-01

    People living with chronic medical conditions face challenges not only with respect to their physical health but also to their emotional and social well-being. Chronic conditions, such as systemic sclerosis (SSc or scleroderma), often result in significant disruptions to activities of daily living,

  19. The treatment of skin ulcers in patients with systemic sclerosis

    OpenAIRE

    M. Matucci- Cerinic; F. Braschi; A. Moggi Pignone; L. Amanzi; G. Fiori

    2011-01-01

    Systemic Sclerosis (Ssc) is a complex disease of the connective tissue, characterized by progressive thickening and fibrosis of the skin and the internal organs and by diffused damage of the microvascular system. The fibrosis ones of the skin associated to the characteristic vascular alterations lead to the genesis of ulcers, more or less extended, often multiple, peripheral localization, chronic course, painful, able to influence patient’s quality of life. Indeed, immunity reactivity, the th...

  20. Aortic pulse wave velocity measurement in systemic sclerosis patients

    Directory of Open Access Journals (Sweden)

    M. Sebastiani

    2012-12-01

    Full Text Available Background. Systemic sclerosis (SSc is characterized by endothelial dysfunction and widespread microangiopathy. However, a macrovascular damage could be also associated. Aortic pulse wave velocity (aPWV is known to be a reliable indicator of arterial stiffness and a useful prognostic predictor of cardiovascular events. Moreover, aPWV may be easily measured by non-invasive, user-friendly tool. Aim of our study was to evaluate aPWV alterations in a series of SSc patients. Methods. The aPWV was evaluated in 35 consecutive female SSc patients and 26 sex- and age-matched healthy controls. aPWV alterations were correlated with cardiopulmonary involvement. Results. A significant increase of aPWV was observed in SSc patients compared to controls (9.4±3.2 m/s vs 7.3±1 m/s; P=0.002. In particular, 14/35 (40% SSc patients and only 1/26 (4% controls (P=0.0009 showed increased aPWV (>9 m/s cut-off value. Moreover, echocardiography evaluation showed an increased prevalence of right atrial and ventricular dilatation (atrial volume: 23.6±6.2 mL vs 20.3±4.3 mL, P=0.026; ventricular diameter 19.5±4.9 mm vs 15.9±1.6 mm; P=0.001 associated to higher values of pulmonary arterial systolic pressure (PAPs in SSc patients (31.5±10.4 mmHg vs 21.6±2.9 mmHg; P50 years old. Furthermore, altered aPWV was more frequently associated with limited cutaneous pattern, longer disease duration (≥5 years, and/or presence of anticentromere antibody (ACA. Conclusions. A significantly higher prevalence of abnormally increased aPWV was evidenced in SSc patients compared to healthy controls. The possibility of more pronounced and diffuse vascular damage in a particular SSc subset (ACA-positive subjects with limited cutaneous scleroderma and longer disease duration might be raised.

  1. Designing an Electronic Patient Management System for Multiple Sclerosis: Building a Next Generation Multiple Sclerosis Documentation System.

    Science.gov (United States)

    Kern, Raimar; Haase, Rocco; Eisele, Judith Christina; Thomas, Katja; Ziemssen, Tjalf

    2016-01-08

    Technologies like electronic health records or telemedicine devices support the rapid mediation of health information and clinical data independent of time and location between patients and their physicians as well as among health care professionals. Today, every part of the treatment process from diagnosis, treatment selection, and application to patient education and long-term care may be enhanced by a quality-assured implementation of health information technology (HIT) that also takes data security standards and concerns into account. In order to increase the level of effectively realized benefits of eHealth services, a user-driven needs assessment should ensure the inclusion of health care professional perspectives into the process of technology development as we did in the development process of the Multiple Sclerosis Documentation System 3D. After analyzing the use of information technology by patients suffering from multiple sclerosis, we focused on the needs of neurological health care professionals and their handling of health information technology. Therefore, we researched the status quo of eHealth adoption in neurological practices and clinics as well as health care professional opinions about potential benefits and requirements of eHealth services in the field of multiple sclerosis. We conducted a paper-and-pencil-based mail survey in 2013 by sending our questionnaire to 600 randomly chosen neurological practices in Germany. The questionnaire consisted of 24 items covering characteristics of participating neurological practices (4 items), the current use of network technology and the Internet in such neurological practices (5 items), physicians' attitudes toward the general and MS-related usefulness of eHealth systems (8 items) and toward the clinical documentation via electronic health records (4 items), and physicians' knowledge about the Multiple Sclerosis Documentation System (3 items). From 600 mailed surveys, 74 completed surveys were returned

  2. Elevated plasma homocysteine level is possibly associated with skin sclerosis in a series of Japanese patients with systemic sclerosis.

    Science.gov (United States)

    Motegi, Sei-Ichiro; Toki, Sayaka; Yamada, Kazuya; Uchiyama, Akihiko; Ishikawa, Osamu

    2014-11-01

    Homocysteine is a sulfhydryl-containing amino acid that is derived from dietary methionine, and there has been increasing evidence that elevated plasma homocysteine levels are associated with increased risk of cardiovascular diseases, including carotid, coronary and peripheral arterial disease (PAD). The association of plasma homocysteine levels with peripheral vascular involvements, such as Raynaud phenomenon (RP), digital ulcers (DU) in systemic sclerosis (SSc) patients has not been well studied. The objective of this study was to examine plasma homocysteine levels and their clinical associations in patients with SSc. Plasma homocysteine levels in 151 Japanese patients with SSc and 20 healthy controls were examined. No significant differences were observed in plasma homocysteine levels between SSc patients and healthy individuals. Demographic and clinical features of the SSc patients revealed that severe skin sclerosis, anti-topoisomerase I antibody positivity, complications of DU, acro-osteolysis (AO) and interstitial lung disease (ILD) were significantly more prevalent among the patients with elevated plasma homocysteine levels. The plasma homocysteine levels were positively correlated with modified Rodnan total skin score. The plasma homocysteine levels in the SSc patients with DU, AO and ILD were significantly higher than those in the SSc without DU, AO and ILD, respectively. Plasma homocysteine levels did not correlate with either the mean or max intima-media thickness (IMT) or plaque score, suggesting that plasma homocysteine levels might not be associated with carotid artery atherosclerosis in SSc patients. The measurement of plasma homocysteine levels in SSc patients might be useful for the risk stratifications of severe skin sclerosis, DU and AO. © 2014 Japanese Dermatological Association.

  3. High serum levels of YKL-40 in patients with systemic sclerosis are associated with pulmonary involvement

    DEFF Research Database (Denmark)

    Nordenbaek, C; Johansen, J S; Halberg, P

    2005-01-01

    OBJECTIVES: YKL-40, a growth factor of connective tissue cells, is elevated in sera from patients with diseases characterized by inflammation, tissue remodelling, or fibrosis. The aim of the study was to determine serum YKL-40 levels in patients with systemic sclerosis (SSc) and to explore any po...

  4. Digital ulcers predict a worse disease course in patients with systemic sclerosis

    DEFF Research Database (Denmark)

    Mihai, Carina; Landewé, Robert; van der Heijde, Désirée

    2016-01-01

    OBJECTIVE: Systemic sclerosis (SSc) is a systemic autoimmune disease with high morbidity and significant mortality. There is a great need of predictors that would allow risk stratification of patients with SSc and ultimately initiation of treatment early enough to ensure optimal clinical results...

  5. Human parvovirus B19 (B19V) infection in systemic sclerosis patients

    DEFF Research Database (Denmark)

    Zakrzewska, K.; Corcioli, F.; Carlsen, Karen Marie

    2009-01-01

    BACKGROUND: Our previous reports suggested a possible association between parvovirus B19 (B19V) infection and systemic sclerosis (SSc), based on higher prevalence of B19V DNA in SSc patients in respect to controls. METHODS: In the present study, to further evaluate the differences in the pattern...

  6. Assessment of light touch sensation in the hands of systemic sclerosis patients

    Directory of Open Access Journals (Sweden)

    Paula Gabriel Silva

    2014-09-01

    Full Text Available INTRODUCTION: Systemic sclerosis is a relatively rare connective tissue disorder characterized by severe and progressive fibrosis of the skin. Due to the current lack of available information on this subject, the aim of the present study was to assess light touch sensations in the hands of patients with systemic sclerosis. METHODS: We completed a cross-sectional comparative study. Light touch sensations were evaluated in 30 individuals, including 15 patients with systemic sclerosis who exhibited changes in the dermis of their hands without loss of the distal phalanx and 15 subjects who did not exhibit changes in the upper limbs (control group. The groups were age- and sex-matched. Tactile sensory evaluations were performed using the Semmes-Weinstein monofilament test and the two-point discrimination test. RESULTS: Statistically significant differences were found between groups in the monofilament test. The study group had lower scores across all points of the hand when compared with the control group. Differences were also found when dominant and non-dominant hands were compared (p<0.05. Statistically significant differences were found between groups for a subset of the assessed points in the two-point discrimination test. CONCLUSIONS: The results of a monofilament test showed that tactile sensation, specifically light touch and deep pressure sensations, is altered in the hands of systemic sclerosis patients.

  7. Skin scoring in systemic sclerosis

    DEFF Research Database (Denmark)

    Zachariae, Hugh; Bjerring, Peter; Halkier-Sørensen, Lars

    1994-01-01

    Forty-one patients with systemic sclerosis were investigated with a new and simple skin score method measuring the degree of thickening and pliability in seven regions together with area involvement in each region. The highest values were, as expected, found in diffuse cutaneous systemic sclerosis...... (type III SS) and the lowest in limited cutaneous systemic sclerosis (type I SS) with no lesions extending above wrists and ancles. A positive correlation was found to the aminoterminal propeptide of type III procollagen, a serological marker for synthesis of type III collagen. The skin score...

  8. Development of systemic lupus erythematosus in-patient with systemic sclerosis

    International Nuclear Information System (INIS)

    Martinez, Jose B; Medina, Yimmy F; Restrepo, Jose Felix; Rondon, Federico; Iglesias G, Antonio

    2005-01-01

    A 56 years old woman with systemic sclerosis consult by rapidly progressive deterioration of his pulmonary and renal function developing a superposition syndrome with systemic lupus erythematosus, unusual presentation that respond to high doses of corticosteroid and ciclophos- phamide. This is the first reported case in the literature of a superposition syndrome that begins with systemic sclerosis. The clinical finding, immunologic profile and its possible association are discussed

  9. [Autonomic nervous system alteration in multiple sclerosis patients with urinary symptoms. Clinical, urodynamic and cardiovascular study].

    Science.gov (United States)

    Amarenco, G; Raibaut, P; Hubeaux, K; Jousse, M; Sheikh Ismaël, S; Lapeyre, E

    2013-12-01

    To assess symptoms related to autonomic nervous system alteration in a population of patients suffering from multiple sclerosis (MS) and presenting with urinary symptoms. We investigated 65 patients (mean age 47.5 years) suffering from MS, and presenting with urological dysfunction by means of symptom scores, urodynamic investigation, cardiovascular autonomic function tests (orthostatic hypotension testing, Valsalva test, deep breath test, cold pressor test) and sympathetic skin responses. Forty-five (69%) patients suffered from overactive bladder, 48 (73%) from voiding dysfunction, 14 (21%) from urinary retention and 13 (20%) from fecal incontinence. Urodynamic investigation demonstrated overactive detrusor in 46 (70%) cases, and underactive detrusor in four (6%) cases. Twenty-five (38%) patients had dysautonomia without correlation neither with clinical or urodynamic data, nor gravity of multiple sclerosis (EDSS). In this series, the prevalence of dysautonomia was high in patients suffering from MS and presenting with urinary disorders. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  10. Demographic and clinical features of autoimmune thyroid disorder in Japanese patients with systemic sclerosis.

    Science.gov (United States)

    Toki, Sayaka; Motegi, Sei-ichiro; Yamada, Kazuya; Uchiyama, Akihiko; Ishikawa, Osamu

    2014-12-01

    Autoimmune thyroid disorders (AITD) are characterized by the impairment of the thyroid gland as a result of systemic or organ-specific autoimmune disorders, and the presence of antithyroid autoantibodies, such as antithyroglobulin antibody (AbTg) and antithyroid peroxidase antibody (AbTPO). Several studies have reported the association of AITD with systemic sclerosis (SSc). However, none of those studies analyzed the association between AITD and skin sclerosis in SSc patients. The aim of this study was to examine the demographic and clinical features of SSc patients with AITD treated in our department. Of a total of 210 SSc patients, we identified 30 with AITD (14.3%), including 29 with Hashimoto's disease (13.8%) and one patient with Graves' disease (0.5%), indicating that hypothyroidism was more common among SSc patients with AITD. All patients with AITD were female, and anticentromere antibody positivity, the complication of Sjögren's syndrome, severe facial skin sclerosis and atrophy of the thyroid gland were significantly prevalent in SSc patients with AITD. SSc patients with such clinical features may be at high risk of AITD and require regular follow up of thyroid function including ultrasonography and the examination of serum hormone levels to start an early treatment. © 2014 Japanese Dermatological Association.

  11. [Multiple sclerosis management system 3D. Moving from documentation towards management of patients].

    Science.gov (United States)

    Schultheiss, T; Kempcke, R; Kratzsch, F; Eulitz, M; Pette, M; Reichmann, H; Ziemssen, T

    2012-04-01

    The increasing therapeutic options for relapsing-remitting multiple sclerosis require a specific treatment and risk management to recognize the individual response as well as potential side effects. To switch from pure MS documentation to MS management by implementing a new multiple sclerosis management and documentation tool may be of importance. This article presents the novel computer-based patient management system "multiple sclerosis management system 3D" (MSDS 3D). MSDS 3D allows documentation and visualization of visit schedules and mandatory examinations via defined study modules by integration of data input from patients, attending physicians and MS nurses. It provides forms for the documentation of patient visits as well as clinical and diagnostic findings. Information is collected via interactive touch screens. A specific module which is part of MSDS 3D's current version allows the monthly monitoring of patients under treatment with natalizumab. A checklist covering clinical signs of progressive multifocal leukoencephalopathy (PML) and a detailed questionnaire about the handling of natalizumab in practice have additionally been added. The MS patient management system MSDS 3D has successfully been implemented and is currently being evaluated in a multi-centre setting. Advanced assessment of patient data may allow improvements in clinical practice and research work. The addition of a checklist and a questionnaire into the natalizumab module may support the recognition of PML during its early, treatable course.

  12. Rituximab-induced neutropenia in a patient with inflammatory myopathy and systemic sclerosis overlap disease.

    Science.gov (United States)

    Akram, Qasim; Roberts, Mark; Oddis, Chester; Herrick, Arianne; Chinoy, Hector

    2016-01-01

    Rituximab (RTX) is a monoclonal chimeric antibody directed against the CD20 antigen of B lymphocytes. Late onset neutropenia (LON) is a recognised complication of rituximab usually occurring 4 weeks after the last dose and is reported in both haematological and rheumatological conditions. However, it has never been described in a patient with myositis and systemic sclerosis overlap disease. We describe a case of LON in a 54-year-old man who was diagnosed with myositis and then systemic sclerosis overlap disease. It resolved within 7 days, and the patient did not suffer neutropenic sepsis or any other complications. We propose similar mechanisms for LON as described in other conditions and routine blood monitoring in such patients.

  13. Proton spectroscopy study of the masseter in patients with systemic sclerosis

    International Nuclear Information System (INIS)

    Marcucci, Marcelo; Abdala, Nitamar

    2009-01-01

    Objective: To evaluate metabolite concentration in the masseter of patients with systemic sclerosis, by analyzing creatine, choline, lipid and lactate levels, and correlating them with the presence of mandibular osteolysis. Materials and methods: The sample included 25 individuals, 15 of them with diagnosis of systemic sclerosis, divided into two groups according to the presence (group I) or absence (group II) of osteolysis, and 10 healthy individuals (group III, control). All of them were submitted to proton magnetic resonance spectroscopy with PRESS sequence and 3D acquisition. Results: Metabolite analysis showed that the creatine and lipid levels were the same for the three groups. Patients in group I presented higher levels of choline when compared with group III. On the other hand, lower lactate levels were observed in groups I and II when compared with the healthy individuals. Creatine/lipid and choline/lactate ratios were the same in the three groups. Conclusion: Lower lactate levels were observed in the patients with systemic sclerosis (groups I and II). Choline levels were increased in the patients with mandibular osteolysis (group I). Creatine/choline, lipid/lactate and choline/lipid ratios were different among the three groups. Further studies are necessary to understand the role played by the masseter in the development of mandibular osteolysis. (author)

  14. A recombinant topoisomerase I used for autoantibody detection in sera from patients with systemic sclerosis.

    Science.gov (United States)

    Verheijen, R; Van den Hoogen, F; Beijer, R; Richter, A; Penner, E; Habets, W J; van Venrooij, W J

    1990-04-01

    We report the expression of a cDNA clone encoding 695 carboxyl-terminal amino acids of human DNA topoisomerase I (topoI) in Escherichia coli. More than 96% of the anti-HeLa topoI-positive sera from patients with a connective tissue disease displayed also an immunoreactivity with this recombinant protein (the HTopoA protein). Sera from patients with a definite diagnosis systemic sclerosis and reacting with HeLa topoI, all reacted with the HTopoA protein as well. Sera from patients with systemic sclerosis that did not contain anti-topoI antibodies (about 30% of the systemic sclerosis sera), as concluded from HeLa immunoblot, displayed also no immunoreactivity with our recombinant antigen. By expressing different fragments of HTopoA, we were able to assign at least three different autoimmune epitope regions on the HTopoA protein and we show that over a period of 5 years the amount of anti-topoI antibodies against these regions may fluctuate.

  15. Efficacy of Autologous Microfat Graft on Facial Handicap in Systemic Sclerosis Patients.

    Science.gov (United States)

    Sautereau, Nolwenn; Daumas, Aurélie; Truillet, Romain; Jouve, Elisabeth; Magalon, Jéremy; Veran, Julie; Casanova, Dominique; Frances, Yves; Magalon, Guy; Granel, Brigitte

    2016-03-01

    Autologous adipose tissue injection is used in plastic surgery for correction of localized tissue atrophy and has also been successfully offered for treatment of localized scleroderma. We aimed to evaluate whether patients with systemic sclerosis (SSc) and facial handicap could also benefit from this therapy. We included 14 patients (mean age of 53.8 ± 9.6 years) suffering from SSc with facial handicap defined by Mouth Handicap in Systemic Sclerosis Scale (MHISS) score more than or equal to 20, a Rodnan skin score on the face more than or equal to 1, and maximal mouth opening of less than 55 mm. Autologous adipose tissue injection was performed under local anesthesia using the technique of subcutaneous microinjection. The main objective of this study was an improvement of the MHISS score 6 months after the surgical treatment. The procedure was well tolerated. We observed a mean decrease in the MHISS score of 10.7 points (±5.1; P handicap, skin sclerosis, mouth opening limitation, sicca syndrome, and facial pain. Thus, this minimally invasive approach offers a new hope for face therapy for patients with SSc.

  16. Relapsing and Progressive Tumefactive Demyelinating Form of Central Nervous System Involvement in a Patient with Progressive Systemic Sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ho Kyun [Dept. of Radiology, Catholic University of Daegu School of Medicine, Daegu (Korea, Republic of); Lee, Hui Joong [Dept. of Kyungpook National University Hospital, Daegu (Korea, Republic of)

    2013-03-15

    White matter hyper intensities (WMHI) on MRI are not rare in patients with progressive systemic sclerosis (PSS). In this presentation, WMHI were developed in both middle cerebellar peduncles and temporal white matter in a patient with PSS, and regressed after medication of high dose steroid. However, new lesions were developed in the subcortices of both precentral gyri, and progressed rapidly to tumefactive hyperintensity on MRI. We report an unusual relapsing and progressive tumefactive demyelinating form of central nervous system involvement in PSS.

  17. Relapsing and Progressive Tumefactive Demyelinating Form of Central Nervous System Involvement in a Patient with Progressive Systemic Sclerosis

    International Nuclear Information System (INIS)

    Kim, Ho Kyun; Lee, Hui Joong

    2013-01-01

    White matter hyper intensities (WMHI) on MRI are not rare in patients with progressive systemic sclerosis (PSS). In this presentation, WMHI were developed in both middle cerebellar peduncles and temporal white matter in a patient with PSS, and regressed after medication of high dose steroid. However, new lesions were developed in the subcortices of both precentral gyri, and progressed rapidly to tumefactive hyperintensity on MRI. We report an unusual relapsing and progressive tumefactive demyelinating form of central nervous system involvement in PSS.

  18. Reduced levels of S-nitrosothiols in plasma of patients with systemic sclerosis and Raynaud's phenomenon

    Science.gov (United States)

    Kundu, Devi; Abraham, David; Black, Carol M.; Denton, Christopher P.; Bruckdorfer, K. Richard

    2014-01-01

    Objective S-Nitrosothiols (RSNOs) are bioactive forms of nitric oxide which are involved in cell signalling and redox regulation of vascular function. Circulating S-nitrosothiols are predominantly in the form of S-nitrosoalbumin. In this study plasma concentrations of S-nitrosothiols were measured in patients with systemic sclerosis (SSc) where NO metabolism is known to be abnormal. Patients and methods Venous blood was collected from 16 patients with Raynaud's phenomenon (RP), 45 with systemic sclerosis (SSc) (34 patients had limited SSc (IcSSc) and 11 diffuse cutaneous disease (dcSSc)). Twenty six healthy subjects were used as controls. Plasma S-nitrosothiol concentrations were measured by chemiluminescence. The measurements were related to the extent of biological age, capillary/skin scores and disease duration. Results Plasma RSNO levels in patients with Raynaud's phenomenon (RP) and in those with SSc was significantly lower compared to the concentrations in control subjects. In SSc, plasma S-nitrosothiols were often below the level of detection (1nM). Conclusions Low S-nitrosothiol concentrations were observed in the blood of patients with SSc and patients with RP indicating a profound disturbance of nitric oxide metabolism. PMID:25446164

  19. Characteristics of systemic sclerosis patients in Nairobi, Kenya : a ...

    African Journals Online (AJOL)

    Skin manifestation was the commonest presentation (100%), followed by Raynaud's phenomenon (64%), pulmonary disease (56%) and esophageal disease (54%). Antinuclear antibodies were present in 67% of the patients tested. Of the patients tested for anti- SCL-70 autoantibodies, only 28% were positive. Most of the ...

  20. Internal anal sphincter atrophy in patients with systemic sclerosis.

    Science.gov (United States)

    Thoua, Nora M; Schizas, Alexis; Forbes, Alastair; Denton, Christopher P; Emmanuel, Anton V

    2011-09-01

    SSc is a connective tissue, multisystem disorder of unknown aetiology. The gastrointestinal tract (GIT) is affected in up to 90% of patients. The exact pathophysiology of GIT involvement is not known, but it is related to both neurogenic and myogenic abnormalities as well as possible vascular and ischaemic changes. Thinning of the internal anal sphincter (IAS) has been demonstrated in SSc with faecal incontinence. We aimed to investigate anal sphincter structure in patients with SSc. Forty-four SSc patients [24 symptomatic (Sx) and 20 asymptomatic (ASx)] and 20 incontinent controls (ICs) were studied. Patients underwent anorectal manometry and endoanal US. In the ICs, external anal sphincter defects were more common, but the IAS was less atrophic, evident by both atrophy scores and IAS thickness. There was no significant difference in atrophy scores [Sx: 2 (1.5-3) vs ASx: 2 (1-2)] or IAS thickness [Sx: 1.85 (1.5-2.3) vs ASx: 1.8 (1.7-2.25)] between the Sx and ASx SSc patients. Patients with SSc (both Sx and ASx) have thin and atrophic IAS, suggesting that IAS atrophy develops even in ASx patients and this may be amenable to treatment with sacral neuromodulation.

  1. Neuropathic pain in Systemic Sclerosis patients: A cross-sectional study.

    Science.gov (United States)

    Sousa-Neves, Joana; Cerqueira, Marcos; Santos-Faria, Daniela; Afonso, Carmo; Teixeira, Filipa

    2018-01-31

    To investigate if patients with Systemic Sclerosis (SSc) show a higher prevalence of neuropathic pain (NP) in comparison with controls. To study the relationship between clinical variables of the disease and NP among SSc patients. 48 patients and 45 controls were included. Presence of NP was assessed applying the DN4 "Douleur Neuropathique en 4 Questions" questionnaire. Different clinical variables were also assessed in patients. Statistical analysis included parametric, nonparametric tests and multivariate logistic regression. NP was significantly higher in SSc patients (56.2% vs 13.3%, pNP (pNP in SSc patients and controls. These findings should raise the awareness of the clinician to recognize and address the presence of NP in these patients, especially in those with severe skin involvement. Copyright © 2018 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  2. Dexamethasone pulse therapy in patients of systemic sclerosis: Is it a viable proposition? A study from kashmir

    Directory of Open Access Journals (Sweden)

    Sameem Farah

    2010-01-01

    Full Text Available Background: Systemic sclerosis is a multisystemic autoimmune disorder. Intravenous dexamethasone pulse therapy has been used since 1998. Aim: The aim was to report the beneficial effects of dexamethasone pulse in patients of systemic sclerosis vis-á-vis the side effects. Materials and Methods: Forty-seven patients of systemic sclerosis were included. After looking at the history and physical examination, the patients were submitted to various relevant investigations. Clinical scoring of the patient was done at baseline and 6-month interval according to Furst′s organ indices score. Results: A total of 47 patients of systemic sclerosis were included (45 females, 2 males. In majority, acrosclerosis was seen. Severe sclerosis and contractures were seen in two patients. Moderate proteinuria, restrictive lung disease, dysphagia, and valvular heart involvement were seen. A total of 13 patients on dexamethasone pulse therapy developed tuberculosis. Improvement in skin scoring and decreased severity of Raynaud′s phenomenon was seen. No improvement in dysphagia, severe vascular symptoms, or restrictive lung disease was seen. Conclusion: Thus, beneficial effects of dexamethasone pulse therapy seem to be merely cosmetic.

  3. Bilateral vocal fold immobility in a patient with overlap syndrome rheumatoid arthritis/systemic sclerosis.

    Science.gov (United States)

    Ingegnoli, Francesca; Galbiati, Valentina; Bacciu, Andrea; Zeni, Silvana; Fantini, Flavio

    2007-10-01

    Bilateral vocal fold immobility (BVFI) can be the result of a primary disorder or as an iatrogenic complication of surgery or intubation. Laryngeal involvement can be a rare complication of connective tissue disorders and it usually occurs in association with other symptoms and signs that indicate active disease. We present a case of BVFI in a patient with an overlap syndrome rheumatoid arthritis/systemic sclerosis, referred to our division because of dysphonia and dyspnea. The video-laryngostroboscopy showed the presence of BVFI. Physical examination, blood tests, lung and neck high resolution computed tomography scans did not demonstrate significant abnormalities. She was treated with pulses of intravenous methylprednisolone with slow improvement.

  4. Radioimmunoassay determination of urinary prostaglandins in patients with progressive systemic sclerosis

    International Nuclear Information System (INIS)

    Ramirez P, P.; Erbessd, M.L.; Mares, G.; Recinos, G.; Graef S, A.; Lavalle, C.

    1985-01-01

    The results of urinary determinations of E-2 prostaglandines by radioimmunoassay (RIA) in 24-hour urine are presented for three groups: progressive systemic sclerotic patients with normotension and with elevated or normal APR, progressive systemic sclerotic patients with hypertension and with normal or low APR, control group of normal subjects. In a recent report of progressive systemic sclerosis in patients we demonstrated changes in the urine concentratrion of APR levels, sodium excretion and in total blood volume. Based on these findings we felt the need to perform quantifications of E-2 prostaglandines (PGE-2) in 24-hour recently taken urine samples stored at 70 0 and measure the sodium amounts excreted in the urine. We concluded that urinary determination of E-2 prostaglandines was the most suitable for our study as it allowed the establishment of relationships between APR, aldosterone and metabolic sodium balance. (author)

  5. Thermography Improves Clinical Assessment in Patients with Systemic Sclerosis Treated with Ozone Therapy.

    Science.gov (United States)

    Nowicka, Danuta

    2017-01-01

    Objective. Treatment of scleroderma is challenging and limited. The aim of our study was to evaluate the usefulness of thermography in assessment of the clinical condition (joints movability and skin thickness) in clinically advanced patients with systemic sclerosis before and after ozone therapy. Method. The study included 42 patients aged 32 to 73 years with advanced systemic sclerosis hospitalized in the university clinic between 2003 and 2006. Thermography and clinical examinations were conducted at baseline and after two series of bath in water with ozone. Results. The comparison of results showed significant increase in skin temperature by 2.5°C, significant increase in interphalangeal joints movability by 18 degrees, and significant decrease in skin score by 14.7 points. The skin temperature was correlated with skin score ( r = -0.59) and joints movability ( r = +0.8). Conclusions. Ozone therapy shows positive effect on clinical parameters and skin temperature as measured with thermography. The study indicated possibility of introducing ozonotherapy as an independent therapy in cases with low level of progression or during remission periods and as additional treatment in patients with advanced disease requiring immunosuppressive treatment. Thermography is useful in assessment of skin condition showing strong correlation between skin temperature and clinical parameters.

  6. Multiple sclerosis documentation system (MSDS): moving from documentation to management of MS patients.

    Science.gov (United States)

    Ziemssen, Tjalf; Kempcke, Raimar; Eulitz, Marco; Großmann, Lars; Suhrbier, Alexander; Thomas, Katja; Schultheiss, Thorsten

    2013-09-01

    The long disease duration of multiple sclerosis and the increasing therapeutic options require a individualized therapeutic approach which should be carefully documented over years of observation. To switch from MS documentation to an innovative MS management, new computer- and internet-based tools could be implemented as we could demonstrate with the novel computer-based patient management system "multiple sclerosis management system 3D" (MSDS 3D). MSDS 3D allows documentation and management of visit schedules and mandatory examinations via defined study modules by integration of data input from various sources (patients, attending physicians and MS nurses). It provides forms for the documentation of patient visits as well as clinical and diagnostic findings. Information can be collected via interactive touch screens. Specific modules allow the management of highly efficacious treatments as natalizumab or fingolimod. MSDS can be used to transfer the documented data to databases as, e.g. the registry of the German MS society or REGIMS. MSDS has already been implemented successfully in clinical practice and is currently being evaluated in a multicenter setting. High-quality management and documentation are crucial for improvements in clinical practice and research work.

  7. Therapeutic hypothermia after cardiac arrest in a patient with systemic sclerosis and Raynaud phenomenon.

    Science.gov (United States)

    Bakal, Keren; Danckers, Mauricio; Denson, Joshua L; Sauthoff, Harald

    2015-02-01

    Therapeutic hypothermia favorably impacts neurologic outcomes in patients after cardiopulmonary arrest, although the appropriate target temperature is less clear. Its safety profile in patients with systemic sclerosis (SSc) and Raynaud phenomenon (RP), who may be at increased risk for ischemic complications, has not been addressed in the literature, to our knowledge. Digital lesions are commonly seen in patients with SSc, and cold-induced myocardial ischemia has also been reported. We describe a case of a man with SSc, RP, and digital ulcers who underwent therapeutic hypothermia after cardiopulmonary arrest. He regained full neurologic function, and except for digital necrosis, no hypothermia-associated adverse events were observed. Other risk factors for ischemia, such as cocaine use, may have contributed to the development of the digital necrosis. However, clinicians should be aware of the risk for ischemic complications in patients with SSc and RP when considering the appropriate target temperature after cardiopulmonary arrest.

  8. [Evaluation of the equilibrium system in patients with multiple sclerosis based on qualitative assessment with videonystagmography].

    Science.gov (United States)

    Kenig, Dagmara; Kantor, Ireneusz; Jurkiewicz, Dariusz

    2005-09-01

    Multiple sclerosis (SM) is the most frequent inflammatory-demyelinating disease of central nervous system. The character of SM disease provokes that its most frequent symptoms are vertigo, equilibrium disorders and ataxia. Objective method of vertigo estimation is evaluation of the nystagmus via videonystagmography registration (VNG). This examination allows to simultaneously assess the vertical and horizontal component of the nystagmus. It is considered that mainly the vertical nystagmus is characteristic to equilibrium system impairments of the central nervous system, caused also by SM. The study was carried out on 40 patients (28 women, 12 men) with SM diagnosed as a result of neurological examination. 7 patients (17.5%) suffered from sham - movement vertigo, while 33 patients (82.5%) suffered from instability of posture and walking deviation. The videonystagmography examination resulted in the following: deviation of the eye movement was recorded in 26 patients (65%) during either in saccadic test and in smooth pursuit test, optokinetic nystagmus recorded: dissymetric and variable amplitude result in 24 patients (60%), presence of vertical nystagmus component in 30 patients (75%), positional test: directional-changable nystagmus in 8 patients (20%), pendular nystagmus in 4 patients (10%), presence of vertical nystagmus component in 31 patients (77.5%), caloric test: impairments of one of the labyrinth recorded in 12 patients (30%). SM is still the diagnostic and therapeutic problem. During the mentioned tests we have found the quantitative and qualitative changes in VNG recordings. This may be helpful in SM diagnosis, mainly during its early stages.

  9. Distinct evolution of TLR-mediated dendritic cell cytokine secretion in patients with limited and diffuse cutaneous systemic sclerosis.

    NARCIS (Netherlands)

    Bon, L. van; Popa, C.; Huibens, R.J.F.; Vonk, M.C.; York, M.; Simms, R.; Hesselstrand, R.; Wuttge, D.M.; Lafyatis, R.; Radstake, T.R.D.J.

    2010-01-01

    BACKGROUND: Systemic sclerosis (SSc) is an autoimmune disease and accumulating evidence suggests a role for Toll-like receptor (TLR)-mediated activation of dendritic cells (DCs). OBJECTIVE: To map TLR-mediated cytokine responses of DCs from patients with SSc. METHODS: 45 patients with SSc were

  10. Risk of ischemic stroke in patients with systemic sclerosis: A systematic review and meta-analysis.

    Science.gov (United States)

    Ungprasert, Patompong; Sanguankeo, Anawin; Upala, Sikarin

    2016-01-01

    Several chronic inflammatory disorders, such as rheumatoid arthritis and idiopathic inflammatory myositis, have been shown to increase risk of ischemic stroke but the data on systemic sclerosis (SSc) remains unclear. We conducted a systematic review and meta-analysis of observational studies that reported odds ratio, relative risk, hazard ratio, or standardized incidence ratio comparing risk of ischemic stroke in patients with SSc versus non-SSc participants. Pooled risk ratio and 95% confidence intervals (CIs) were calculated using a random-effect, generic inverse variance method of DerSimonian and Laird. Four retrospective cohort studies were identified and included in our data analysis. We found a statistically significant elevated ischemic stroke risk in patients with SSc with a pooled risk ratio of 1.68 (95% CI, 1.26-2.24). The statistical heterogeneity was moderate with an I(2) of 69%. Our study demonstrated a statistically significant increased ischemic stroke risk among patients with SSc.

  11. Lactose malabsorption in systemic sclerosis.

    Science.gov (United States)

    Marie, I; Leroi, A-M; Gourcerol, G; Levesque, H; Menard, J-F; Ducrotte, P

    2016-11-01

    There are no studies on systemic sclerosis (SSc) assessing the relationship between food intake, especially lactose, and gastrointestinal dysfunction. To determine the prevalence of lactose malabsorption, using lactose breath test, in patients with SSc. To evaluate the correlation between lactose malabsorption and gastrointestinal involvement. To predict which SSc patients exhibit lactose malabsorption. Seventy-seven consecutive Caucasian patients with SSc and 20 control subjects underwent lactose breath test. All patients also completed a questionnaire on digestive symptoms, and a global symptom score (GSS) was calculated. The prevalence of lactose malabsorption was higher in SSc patients than in controls (44.3% vs. 10%; P = 0.004). We observed a marked correlation between the presence of lactose malabsorption and: higher values of GSS (P lactose malabsorption, the median value of GSS of digestive symptoms was lower after initiation of lactose-free diet (P lactose malabsorption often occurs in patients with systemic sclerosis. Furthermore, our findings highlight the fact that lactose breath test is a helpful, noninvasive method, by identifying the group of patients with systemic sclerosis with symptomatic lactose malabsorption that may benefit from a reduction in lactose intake. © 2016 John Wiley & Sons Ltd.

  12. Localized Scleroderma, Systemic Sclerosis and Cardiovascular Risk

    DEFF Research Database (Denmark)

    Hesselvig, Jeanette Halskou; Kofoed, Kristian; Wu, Jashin J

    2018-01-01

    Recent findings indicate that patients with systemic sclerosis have an increased risk of cardiovascular disease. To determine whether patients with systemic sclerosis or localized scleroderma are at increased risk of cardiovascular disease, a cohort study of the entire Danish population aged ≥ 18...... and ≤ 100 years was conducted, followed from 1997 to 2011 by individual-level linkage of nationwide registries. Multivariable adjusted Cox regression models were used to estimate the hazard ratios (HRs) for a composite cardiovascular disease endpoint. A total of 697 patients with localized scleroderma and 1......,962 patients with systemic sclerosis were identified and compared with 5,428,380 people in the reference population. In systemic sclerosis, the adjusted HR was 2.22 (95% confidence interval 1.99-2.48). No association was seen between patients with localized scleroderma and cardiovascular disease. In conclusion...

  13. [Hashimoto thyroiditis may be associated with a subset of patients with systemic sclerosis with pulmonary hypertension].

    Science.gov (United States)

    Costa, Ciliana Cardoso B; Medeiros, Morgana; Watanabe, Karen; Martin, Patricia; Skare, Thelma L

    2014-01-01

    Recent studies show an association between autoimmune thyroiditis and systemic sclerosis (SSc) and suggest that this condition may interfere with the ES phenotype. However these studies evaluate the autoimmune thyroiditis as a whole and none of them specifically addresses Hashimoto's thyroiditis (HT) in SSc. To investigate the presence of HT in SSc patients and its possible association with disease manifestations. Clinical manifestations of hypothyroidism, TSH and anti-thyroid auto antibodies (anti-TPO. anti TBG and TRAb) were studied in 56 patients with SSc. SSc patients with HT were compared with SSc patients without thyroiditis. HT was observed in 19.64% of patients with SSc. No association was observed between HT and the different forms of disease or profile of autoantibodies. Likewise, there was no difference between the mean modified Rodnan score and presence of Raynaud's phenomenon, scars, digital necrosis, myositis, arthritis, sicca symptoms, esophageal dysmotility and scleroderma renal crisis when the groups were compared. On the other hand, patients with HT had higher frequency of pulmonary hypertension in relation to patients without HT (66.6% vs 22.5%, p=0.016). In the studied sample patients with ES and HT had higher prevalence of pulmonary hypertension. Long-term follow-up studies with a larger number of TH and SSc patients are needed to confirm these data. Copyright © 2014 Elsevier Editora Ltda. All rights reserved.

  14. Factors influencing the occupational trajectory of patients with systemic sclerosis: a qualitative study.

    Science.gov (United States)

    Decuman, Saskia; Smith, Vanessa; Grypdonck, Maria; De Keyser, Filip; Verhaeghe, Sofie

    2015-01-01

    To describe, from the patient's point of view, the factors influencing the occupational trajectory of patients with systemic sclerosis (SSc). This was a qualitative study designed using grounded theory with constant comparison. Data were collected through semi-structured interviews with 14 patients who fulfilled the American College of Rheumatology or Leroy-Medsger criteria for SSc. Based on our interviews, we found that the occupational trajectory of patients with SSc is influenced by the continuous interplay between four groups of factors. The first group concerns the values patients attribute to work, including identity, normality, financial value, social contact, and structure. The meaning of these values and how they relate to each other underlies the desire to work. A second group of factors is those influencing the balance between daily life, work participation, and medical condition (e.g. job content, flexibility in organising work, and the willingness to ask for accommodations at work). The occupational trajectory is also influenced by external factors, including availability of support, know-ledge of the disease, pressure to work, contact with medical professionals, and existing regulations and the patient's knowledge about them. Finally, the occupational trajectory is influenced by personal factors, including socio-demographics, psychological assets, and disease- and work-related personal factors. The decisions patients with SSc take concerning work depend on an interplay between many factors and, especially, on the patients' personal interpretation of these factors. These need to be taken into account when helping patients with SSc determine their occupational trajectory.

  15. Treatment of Raynaud phenomenon in systemic sclerosis.

    Science.gov (United States)

    Sinnathurai, P; Schrieber, L

    2013-05-01

    Systemic sclerosis is a connective tissue disease characterised by microvascular injury and excessive fibrosis of the skin and internal organs. Most patients with this condition experience Raynaud phenomenon, usually as the earliest manifestation of disease. In addition to pain and functional impairment, Raynaud phenomenon can produce tissue ischaemia resulting in digital ulceration and gangrene. Current treatments have been only moderately successful in reducing the frequency and severity of Raynaud phenomenon in patients with systemic sclerosis. This review will address treatments available for Raynaud phenomenon in systemic sclerosis. © 2013 The Authors; Internal Medicine Journal © 2013 Royal Australasian College of Physicians.

  16. Demographic, clinical and antibody characteristics of patients with digital ulcers in systemic sclerosis: data from the DUO Registry

    NARCIS (Netherlands)

    Denton, Christopher P.; Krieg, Thomas; Guillevin, Loic; Schwierin, Barbara; Rosenberg, Daniel; Silkey, Mariabeth; Zultak, Maurice; Matucci-Cerinic, Marco; Stetter, M.; Lackner, K.; Tomi, N.; Hafner, F.; Brodmann, M.; Kuen-Spiegel, M.; Kolle, H.; Raffier, B.; Hamberger, N.; Metz, S.; Siebel, C.; Trummer, M.; Thonhofer, R.; Illmer, X.; Trautinger, F.; Schmidt, P.; Rintelen, B.; Sautner, J.; Willfort-Ehringer, A.; Margeta, C.; Monshi, B.; Pirkhammer, D.; Richter, L.; Holzer, G.; Minmair, G.; Broll, H.; Takacs, M.; Hirschl, M.; Mesaric, P.; Feldmann, R.; Semmelweis, K.; Hundstorfer, M.; Reinhart, V.; Maurer, B.; Verner, D.; Distler, O.; Schmidt-Bosshard, R.; Bohmova, J.; Prochazkova, L.; Nemec, P.; Fojtik, Z.; Soukup, T.; Smrzova, A.; Suchy, D.; Zemanova, I.; Becvar, R.; Gawlik, A.; Koch, M.; Rauen, T.; Voss, B.; Kurthen, R.; Unholzer, A.; Starz, H.; Welzel, J.; Plaumann, K.; Merk, B.; Bloching, H. H.; Moosig, F.; Frey, P.; Kahl, S.; Schleenbecker, H.; Storck-Mueller, K.; Schwarting, A.; Hazenbiller, A.; Nichelmann, V.; Flaig, W.; Rumbaur, C.; Boesenberg, I.; Schmeiser, T.; Marx, J.; Mayer, L.; Stein, T.; Ochs, W.; Rasche, C.; Worm, M.; Riemekasten, G.; Deuschle, K.; Becker, M.; Kleiner, H. J.; Schulze, K.; Tiggers, C.; Peters, J.; Kirschke, J.; Schaefer, C.; Monshausen, M.; Mengden, T.; Sadeghlar, F.; Seidel, M.; Hillebrecht, C.; Andresen, J.; Reemtsen, R.; Stoeckl, F.; Sperling, S.; Podda, M.; Wagner, N.; Guenzel, J.; Wuerzburg, I.; Luethke, K.; Enderlein, M.; Kayser, M.; Gerber, A.; Haust, M.; Hoff, N. P.; Mota, R.; Akanay-Diesel, S.; Jahnke, K.; Mettler, S.; Toeller, S.; Zwenger, S.; Klein, E.; Hahn, K.; Beyer, C.; Distler, J.; Katzemich, A.; Erfurt-berge, C.; Sticherling, M.; Schuch, F.; Rapp, P.; Mitchell, A.; Freundlieb, C.; Rushentsova, U.; Himsel, A.; Henkemeier, U.; Eilbacher, P.; Ullrich-Guenther, C.; Neul, S.; Oelsner, M.; Hermanns, G.; Fiene, M.; Gause, A.; Mensing, C.; Klings, D.; Mensing, H.; Messall, J.; Zuper, R.; May, D.; Bruckner, L.; Sheikh, N.; Aries, P.; Kirchberg, S.; Funkert, A.; Blank, N.; Lupaschko, S.; Schwuerzer-Voit, M.; Meier, L.; Herr, U.; Meier, U.; Neek, G.; Wernitzsch, H.; Pfoehler, C.; Assmann, G.; Vosswinkel, J.; Krog, B.; Wollersdorfer, E.; Oltmann-Schroeder, J.; Zeuner, R.; Uhlig, S.; Barth, S.; Huegel, R.; Glaeser, R.; Rabe, B.; Schuster, J.; Scholz, J.; Kremer, K.; Robakidze-Torbahn, M.; Moinzadeh, P.; Mittag, M.; Dohse, A.; Muhlack, A.; Schultz, L.; Schult, S.; Frambach, Y.; Kettenbach, A.; Fell, I.; Schweda, K.; Steinbrink, K.; Podobinska, M.; Harmuth, W.; Nielen, C.; Kaczmarczyk, A.; Kellner, C.; von Oelhafen, J.; von Bildering, P. B.; Kunze, S.; Niedermeier, A.; Messer, G.; Sardy, M.; Bekou, V.; Belloni, B.; Huettig, B.; Ziai, M.; Hein, R.; Hallecker, A.; Gaubitz, M.; Hallermann, C.; Schmidt, K.; Herrgott, I.; Hildebrandt, B.; Eiden, E.; Guertler, I.; Gernot Scheibl, E.; Brand, H.; Kaeding, U.; Weiss, E.; Reischel, N.; Kern, S.; Baumann, C.; Hellmich, B.; Loeffler, C.; Pflugfelder, J.; Karaenke, P.; Ruchenburg, J.; Blume, J.; Zabel, M.; Deppermann, N.; Chromik, S.; Metzler, C.; Krupp, E.; Rumpel, H.; Krause Rostock, J.-O.; Kneitz, C.; Federow, I.; Schneider, K.; Semmler, M.; Hapke, S.; Barnd, A.; Linke, M.; Kampe-Juzak, E.; Knoebel, K.; Niefanger, K.; Wilhelm, H. U.; Lauterwein, B.; Fierlbeck, G.; Schanz, S.; Pfeiffer, C.; Hassel, R.; Wahn, H.; Schildt, K.; von Elling, A.; Boro, D.; Ebel, J.; Ahmadi, K.; Moritz, D.; Dietl, S.; Dyballa, J.; Alsheimer, B.; Schuetz, N.; Schuart, T.; Mueglich, C.; Tony, H. P.; Marina, P.; Deininger, F.; Hartmann, F.; Olsen, A. B.; Sondergaard, K. H.; Naderi, Y.; Iversen, L. V.; Karlsmark, T.; Knudsen, J. B.; Gil, J. G.; Lopez, J. C. F.; Tasende, J. A. P.; Gonzales, M. F.; Sandoval, A. A.; del Carmen Torres Martin, M.; Corteguera, M.; Barca, B. A.; Montes, I. C.; de la Torre, R. G.; Victoria Egurbide, M.; Pros, A.; Munoz, J.; Simeon, C. P.; Espinosa, G.; Espinposa, G.; Rodriguez, M. A. P.; Castellvi, I.; Mascaro, J. M.; Bellido, D.; Manzanedo, V. S.; Huertas, M. P.; Sanchez, M. D. M.; Trenado, M. S. S.; Garcia, P. V.; Gines Martinez, F.; Angeles Aquirre, M.; del Rio, A. H.; Vazquez, J. L. G.; Coleman, J. V.; Lopez, M. R.; Sanchez, P. S.; Aizpuru, E. M. F.; Mateo, F. J. N.; Callejas, J. L.; Ortego, N.; Santo, M. P.; Rubio, M.; Martin, I.; Cruz, A.; Crespo, M.; Ramos, P. C.; Fernandez, A. S.-A.; Filloy, J. A. M.; Rodriguez, T. R. V.; Marhuenda, A. R.; Blanco, J. J. R.; Hernan, M. G. B.; Mendoza, A. Z.; de la Puente, C.; Rabaneda, E. V.; de Vicuna, R. G.; del Mar Ripoll Macias, M.; del la Pena Lefebvre, P. G.; de Ramon, E.; Camps, M. T.; Fernandez, C.; Miguelez, R.; Uson, J.; Delgado, E. G.; Villaverde, V.; Maceiras, F.; Cruz, J.; Mosquera, J. A.; Mera, A.; Pampin, E. P.; Blanco, J. S.; Maneiro, J. R.; Diaz, J. J.; Losada, L.; Caamano, M.; Fernandez, S.; Insua, S. A.; Laurin, C. U.; Sanchez, J.; Fernandez, N. C.; Becerra, N. D.; Garcia, A.; Nicolas, G. M.; del Carmen Ortega de la O, M.; Rueda, A.; Calvo, J.; Roman Ivorra, J.; Sancho Alegre, J. J.; Barbado, J.; Montes, J.; Saez, L.; Kaarto, A.; Makinen, H.; Madaule, S.; Dadban, A.; Lok, C.; Ferrandiz, D.; Moiton, M. P.; Magy-Bertrand, N.; Taieb, A.; Droitcourt, C.; Belin, E.; Balquiere, S.; Prey, S.; Boulon, C.; Constans, J.; Richez, C.; Sassolas, B.; Misery, L.; Greco, M.; collet, E.; Berthier, S.; Leguy-Seguin, V.; Imbert, B.; Carpentier, P.; Blaise, S.; Maillard, H.; Beneton, N.; Launay, D.; Hachulla, E.; Woijtasik, G.; Charlanne, H.; Lambert, M.; Jourdain, N.; Hatron, P. Y.; Morell, S.; Spars, A.; Couraud, A.; Doeffel-hantz, V.; Fauchais, A. L.; Vidal, E.; Goudran, G.; Bezanahary, H.; Boussely, N.; Manea, P.; Dumonteil, S.; Loustaud-ratti, V.; Hot, A.; Coppere, B.; Desmurs-Clavel, H.; Ninet, J.; Girard-Madoux, M. H.; Granel, B.; Keynote, A.; Khau van Kien, A.; Rullier, P.; Le Quellec, A.; Riviere, S.; Bessis, D.; Cohen, J. D.; Farcas, C.; Granel-brocard, F.; Agard, C.; Durant, C.; Fuzibet, J. G.; Queyrel, V.; Berezne, A.; Guillevin, L.; Mouthon, L.; Frances, C.; Toledano, C.; Cabane, J.; Tiev, K.; Farge, D.; Keshtmand, H.; Lazareth, I.; Priollet, P.; Michon-Pasturel, U.; Wipff, J.; Assous, N.; Cartry, O.; Kostrzwewa, E.; Doutre, M. S.; Blum, L.; Reguiai, Z.; Letremy, A.; Perlat, A.; Cazalets-lacoste, C.; Decaux, O.; Jego, P.; Duval-modeste, A. B.; Deboves, O.; Sordet, C.; Chatelus, E.; Chiffot, H.; Sibillia, J.; Couret, B.; Moulis, G.; Sailler, L.; Adoue, D.; Gaches, F.; Diot, E.; Skowron, F.; Zenone, T.; Quemeneur, T.; Kyndt, X.; Wahl, D.; Zuily, S.; Moline, T.; Bravetti, V.; Galanopoulos, N.; Vasilopoulos, D.; Vlachoyannopoulos, P.; Kritikos, I.; Tsifetaki, N.; Koutroumbas, A.; Garyfallos, A.; Athanassiou, P.; Aslanidis, S.; Kamali, S.; Dimitroulas, T.; Galanopoulo, V.; Elezoglou, A.; Grier, A.; Murray, M.; O'Rourke, M.; Gabrielli, A.; Lapadula, G.; Serafino, L.; Terlizzi, N.; Bellissimo, S.; Stisi, S.; Malavolta, N.; Airo, P.; Vacca, A.; Battaglia, E.; Foti, R.; Mazzuca, S.; Bortoluzzi, A.; Trotta, F.; Galluccio, F.; Marucci, A.; Cantatore, F.; Bucci, R.; Puppo, F.; de Angeli, R.; Grassi, W.; Cipriani, P.; Mazzone, A.; Faggioli, P.; Severino, A.; Scorza, R.; Belloli, L.; Ughi, N.; Antivalle, M.; del Papa, N.; Maglione, W.; Zeni, S.; Ferri, C.; Colaci, M.; Varcasia, G.; Cuomo, G.; Cozzi, F.; Triolo, G.; Gatti, S.; Montecucco, C. M.; Doveri, M.; Nigro, A.; Olivieri, I.; Bajoochi, G.; Rosato, E.; Salsano, F.; Faustini, F.; Ferraccioli, G.; Colonna, L.; Pallotta, S.; Riccieri, V.; Mussi, A.; Bellisai, F.; Galeazzi, M.; Fusaro, E.; Saracco, M.; Pellerito, R.; Masolini, P.; de Vita, S.; Lombardi, S.; Lunardi, C.; Moolenburgh, J. D.; Heurkens, A. H. M.; Voskuyl, A.; Hak, A. E.; Stroes, E. S. K.; Remans, J.; Gerdes, V.; van Woerkom, J. M.; de Long, A. J. L.; Kaasjager, H. A. H.; Visser, H.; Janssen, M.; van Guldener, C.; van Neer, F.; Vos, P.; Peters, A. J.; Hulsmans, H.; Ronday, K.; Goekoop, R.; Ewals, J.; Valentijn, R.; de Bois, M.; Westedt, M. L.; Siewertsz van Reesema, D.; Knifjj-Dutmer, E.; Stolk, J. N.; Willems, H.; Kuiper-geertsma, D. G.; Baudaoin, P.; Fretter, P.; Westra, R.; Sonnaville, P. B. J.; Smit, A.; Bootsma, H.; Brouwer, L.; Bijl, M.; Molders, N.; Lebrun, C.; van der Veen, M. J.; Noordzij, M.; Houben, H.; Landewe, R. M. B.; Vercoutere, W.; Jahangier de Veen, Z. N.; Zijlstra, T. R.; Ubels, F.; Bruyn, G.; Jansen, P.; Schuerwegh, A.; Huizinga, T. W. J.; Paassen, P.; Hurkens, T.; Geurts, M.; van den Hoogen, F.; Vonk, M.; Jacobs, P. J. C.; Groenendael, J. H. L. M.; Seys, P.; van Zeben, D.; van Paassen, H.; Groenendael, J.; Han, K. H.; Wlarvens, M.; van Hagen, M.; van Daele, P.; Dolhain, R.; Gerards, A. H.; van der Lubbe, P.; Kanter, M. D. E.; Muller, W. H.; Ton, E.; van Krugten, M.; van Gameren, I.; Lanting, P.; den Hengst, C.; Gjessdal, C. G.; Hjertaker, S. L.; Madland, T. M.; Bendvold, A.; Bitter, H.; Hoffmann-Vold, A. M.; Midtvedt, O.; Bakland, G.; Aslkaksen, H. K.; Seip, M.; Kalstad, S.; Koldingsnes, W.; Grandauent, B.; Nordvag, B. Y.; Stran, E. K.; Skomsvoll, J.; Andersen, M.; Thomsen, R. S.; Pedersen, T.; Bakkeheim, V.; Cordeiro, A.; Alves, J.; Oliveira, S.; Coelho, P.; Resende, C.; Ponte, C.; Almeida, I.; Silva, I.; Santos, C.; Camara, I.; Costa, J.; Hellstrom, H.; Mohammad, A.; Lind, I.; Lind, K.; Bracin, T.; Liljequist, E.; Vingren, T.; Ostenson, A.; Hermansson, E.; Thorsson, C.; Soderlin, M.; Nordin, A.; Waldheim, E.; Vengemyr, K.; Albertsson, K.; Karlsson, M. L.; Rydvald, Y.; Rizk, M.; Dolnicar, A. S.; Lukac, J.; James, J.; McHugh, N.; Cole, S.; Brown, S.; Hamilton, A.; Faizal, A.; Hall, F.; Murphy, K.; Skingle, S.; Harris, H.; Madhok, F.; Hampson, R.; Baguley, E.; Ogunbambi G, O.; Lamb, J.; Anderson, M.; Moots, R.; White-Alao, B.; Morrison, C.; Dobson, J.; Gordon, P.; Salerno, R.; Denton, C.; Parker, L.; Ochiel, R.; Vincent, R.; Zimba, S.; Ngcozana, T.; Xu, Y.; D'Cruz, D.; Choong, L. M.; Herrick, A.; Wragg, E.; Manning, J.; Moore, T.; Kelsey, C.; Chakravarty, K.; Skyes, H.; Athiveer, P.

    2012-01-01

    The Digital Ulcers Outcome (DUO) Registry was designed to describe the clinical and antibody characteristics, disease course and outcomes of patients with digital ulcers associated with systemic sclerosis (SSc). The DUO Registry is a European, prospective, multicentre, observational, registry of SSc

  17. Critical finger ischemia and myocardial fibrosis development after sudden interruption of sildenafil treatment in a systemic sclerosis patient.

    Science.gov (United States)

    Bruni, C; Bellando-Randone, S; Gargani, L; Picano, E; Pingitore, A; Matucci-Cerinic, M; Guiducci, S

    2016-09-09

    Systemic sclerosis (SSc) is a connective tissue disease frequently associated with Raynaud's Phenomenon (RP). Among possible pharmacological treatments, phosphodiesterase 5 inhibitors are considered in cases of severe non -responsive RP. We present the case of a male SSc patient wh presented with critical finger ischemia and concomitant appearance of myocardial fibrosis after sudden interruption of sildenafil treatment.

  18. Fructose Malabsorption in Systemic Sclerosis

    OpenAIRE

    Marie, Isabelle; Leroi, Anne-Marie; Gourcerol, Guillaume; Levesque, Herv?; M?nard, Jean-Fran?ois; Ducrotte, Philippe

    2015-01-01

    Abstract The deleterious effect of fructose, which is increasingly incorporated in many beverages, dairy products, and processed foods, has been described; fructose malabsorption has thus been reported in up to 2.4% of healthy subjects, leading to digestive clinical symptoms (eg, pain, distension, diarrhea). Because digestive involvement is frequent in patients with systemic sclerosis (SSc), we hypothesized that fructose malabsorption could be responsible for intestinal manifestations in thes...

  19. Wound healing after hand surgery in patients with systemic sclerosis--a retrospective analysis of 41 operations in 19 patients.

    Science.gov (United States)

    Tägil, M; Dieterich, J; Kopylov, P

    2007-06-01

    This retrospective study evaluates the results of 41 consecutive hand and forearm operations in 19 patients with systemic sclerosis performed between 1985 and 2000. The mean age of the patients was 50 (14-84) years. Twenty-seven operations were elective and 14 were acute, carried out for skin breakdown and/or skin necrosis. One minor wound healing problem occurred in the elective group. In the acute group, seven of 14 operations healed uneventfully. Four patients had necrosis/infections after surgery, which required further surgery. Two patients had repeated wound infections. Another patient only healed after he stopped smoking. In systemic sclerosis, surgery performed electively does not seem to have increased difficulty with wound healing. Even larger operations, such as wrist arthrodesis or wrist replacement, can be performed safely. In acute cases with spontaneous skin breakdown and/or necrosis and/or critically ischaemic fingers, wound healing is more precarious and several procedures may be necessary to achieve skin healing.

  20. Prospective evaluation of frequency of signs of systemic sclerosis in 76 patients with morphea.

    Science.gov (United States)

    Lipsker, Dan; Bessis, Didier; Cosnes, Anne; Kluger, Nicolas; Lutz, Virginie; Sauleau, Erik; Francès, Camille

    2015-01-01

    Some authors consider that morphoea and systemic sclerosis (SSc) could be part of the same disease spectrum. The aim of this study was to analyse the prevalence of signs indicative of SSc in a cohort of patients with morphoea. This is a prospective multi-centre study performed in four French academic dermatology departments: 76 patients with morphoea and 101 age- and sex-matched controls, who underwent complete clinical examination, were enrolled. A systemic search for signs indicative of SSc (e.g. Raynaud's phenomenon, reflux) was performed with the help of a standardised questionnaire. There were 58 women and 18 men (ration=3/1) with a median age of 59 years. Mean age at diagnosis was 54 years (extremes, 13-87). 49 subjects had plaque morphoea, 9 had generalised morphoea and 18 had linear morphoea. Mean duration of morphoea was 7.9 years. Signs possibly indicative of SSc were noted in four patients of the control group and in 8 patients with morphoea. This difference was not statistically significant (p=0.129). Further investigations ruled out SSc in all patients. Signs indicative of SSc are statistically not more frequently present in patients with morphoea than in controls and this study does not support the view that those 2 entities are part of a common disease spectrum.

  1. Analysis of an immunodominant epitope of topoisomerase I in patients with systemic sclerosis.

    Science.gov (United States)

    Meesters, T M; Hoet, M; van den Hoogen, F H; Verheijen, R; Habets, W J; van Venrooij, W J

    1992-05-01

    In this paper an immunodominant epitope of Topoisomerase I is described. An epitope expression sublibrary was constructed from Topoisomerase I cDNA. The subclones were screened with an antiserum from a patient with systemic sclerosis (SSc). The positive clones defined one immunodominant B cell epitope (epitope III), which was located at the carboxyterminal part of the protein. The epitope, 52 amino acids in length, neither contains the p30gag sequence nor the suggested active site Tyr-723, both presumed antibody recognition sites. More than 70% of our anti-TopoI sera recognize this epitope III, indicating that it is a major recognition site of the anti-TopoI autoantibodies in SSc sera. DNA relaxation experiments show that all sera that recognize epitope III and most sera with antibodies to other epitopes inhibit Topoisomerase I activity.

  2. Effects of cisapride on colonic transit in patients with progressive systemic sclerosis

    International Nuclear Information System (INIS)

    Wang, S.J.; Lin, W.Y.; Lan, J.L.; Chen, D.Y.; Chen, Y.H.; Hsieh, T.Y.

    2002-01-01

    Progressive systemic sclerosis (PSS) may involve any portion of the gastrointestinal tract including the colon. Constipation is common in patients with PSS. Cisapride, a benzamide derivative, is a potentially useful agent in the treatment if chronic idiopathic constipation. The effect of cisapride on colonic transit was evaluated in 16 PSS patients by radionuclide colonic transit method. Static images were acquired at regular times, then the geometric center (GC) values were calculated. Each patient received cisapride orally three times a day for a week. The median GC at 4 hours was 0.351 in patients before treatment and 0.775 after treatment. The difference is significant with a p value of 0.026. The median GC at 24 hours was 1.957 in patients before treatment and significantly increased to 2.509 after treatment. The p value was 0.038. Clinically, twelve patients had symptoms of constipation and 8 of them showed improvement of the symptoms after administration of cisapride. The result showed acceleration in colonic transit in response to cisapride. We conclude that cisapride is effective in the treatment of constipation in patients with PSS

  3. Ventilation distribution and small airway function in patients with systemic sclerosis

    Directory of Open Access Journals (Sweden)

    B.R.A. Silva

    2017-05-01

    Full Text Available Background: Despite the importance of traditional pulmonary function tests (PFTs in managing systemic sclerosis (SSc, many patients with pulmonary disease diagnosed by computed tomography (CT present with normal PFTs. Objective: To evaluate the efficacy of the nitrogen single-breath washout (N2SBW test in diagnosing SSc and to correlate N2SBW parameters with the PFT indexes used in the follow-up of these patients, clinical data, and CT findings. Methods: Cross-sectional study in which 52 consecutive SSc patients were subjected to spirometry, body plethysmography, analysis of the diffusing capacity for carbon monoxide (DLCO, analysis of respiratory muscle strength, N2SBW testing, and CT analysis. Results: Twenty-eight patients had a forced vital capacity (FVC that was 120% of the predicted value, while 15 patients had a closing volume/vital capacity (CV/VC that was >120% of the predicted value. A significant difference in Phase III slopeN2SBW was observed when the patients with predominant traction bronchiectasis and honeycombing were compared to the patients with other CT patterns (p < 0.0001. The Phase III slopeN2SBW was correlated with FVC (rs = −0.845, p < 0.0001 and DLCO (rs = −0.600, p < 0.0001, and the CV/VC was correlated with FVC (rs = −0.460, p = 0.0006 and residual volume/total lung capacity (rs = 0.328, p = 0.017. Conclusion: Ventilation heterogeneity is a frequent finding in SSc patients that is associated with restrictive damage, changes in pulmonary diffusion, and CT patterns. In addition, approximately one-third of the patients presented with findings that were compatible with small airway disease. Keywords: Systemic sclerosis, Respiratory function tests, Nitrogen single-breath washout test

  4. Vasoactive Therapy in Systemic Sclerosis: Real-life Therapeutic Practice in More Than 3000 Patients.

    Science.gov (United States)

    Moinzadeh, Pia; Riemekasten, Gabriela; Siegert, Elise; Fierlbeck, Gerhard; Henes, Joerg; Blank, Norbert; Melchers, Inga; Mueller-Ladner, Ulf; Frerix, Marc; Kreuter, Alexander; Tigges, Christian; Lahner, Nina; Susok, Laura; Guenther, Claudia; Zeidler, Gabriele; Pfeiffer, Christiane; Worm, Margitta; Karrer, Sigrid; Aberer, Elisabeth; Bretterklieber, Agnes; Genth, Ekkehard; Simon, Jan C; Distler, Joerg H W; Hein, Ruediger; Schneider, Matthias; Seitz, Cornelia S; Herink, Claudia; Steinbrink, Kerstin; Sárdy, Miklos; Varga, Rita; Mensing, Hartwig; Mensing, Christian; Lehmann, Percy; Neeck, Gunther; Fiehn, Christoph; Weber, Manfred; Goebeler, Matthias; Burkhardt, Harald; Buslau, Michael; Ahmadi-Simab, Keihan; Himsel, Andrea; Juche, Aaron; Koetter, Ina; Kuhn, Annegret; Sticherling, Michael; Hellmich, Martin; Kuhr, Kathrin; Krieg, Thomas; Ehrchen, Jan; Sunderkoetter, Cord; Hunzelmann, Nicolas

    2016-01-01

    Vasculopathy is a key factor in the pathophysiology of systemic sclerosis (SSc) and the main cause for Raynaud phenomenon (RP), digital ulcers (DU), and/or pulmonary arterial hypertension (PAH). It is so far unknown how patients with SSc are treated with vasoactive agents in daily practice. To determine to which extent patients with SSc were treated with different vasoactive agents, we used data from the German Network for Systemic Scleroderma registry. The data of 3248 patients with SSc were analyzed. Patients were treated with vasoactive drugs in 61.1% of cases (1984/3248). Of these, 47.6% received calcium channel inhibitors, followed by 34.2% treated with angiotensin-converting enzyme (ACE) inhibitors, 21.1% treated with intravenous (IV) prostanoids, 10.1% with pentoxifylline, 8.8% with angiotensin 1 receptor antagonists (AT1RA), 8.7% with endothelin 1 receptor antagonists (ET1RA), 4.1% with phosphodiesterase type 5 (PDE5) inhibitors, and 5.3% with others. Patients with RP received vasoactive therapy in 63.3% of cases, with DU in 70.1%, and with PAH in 78.2% of cases. Logistic regression analysis revealed that patients with PAH were significantly more often treated with PDE5 inhibitors and ET1RA, and those with DU with ET1RA and IV prostanoids. In addition, 41.8% of patients were treated with ACE inhibitors and/or AT1RA. Patients registered after 2009 received significantly more often ET1RA, AT1RA, and IV prostanoids compared with patients registered prior to 2005. These data clearly indicate that many patients with SSc do not yet receive sufficient vasoactive therapy. Further, in recent years, a marked change of treatment regimens can be observed.

  5. Familial autoimmunity and polyautoimmunity in 60 Brazilian Midwest patients with systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Alex Magno Coelho Horimoto

    Full Text Available ABSTRACT Introduction: Systemic sclerosis (SSc is a connective tissue disease of unknown etiology, characterized by a triad of vascular injury, autoimmunity and tissue fibrosis. It is known that a positive family history is the greatest risk factor already identified for the development of SSc in a given individual. Preliminary observation of a high prevalence of polyautoimmunity and of familial autoimmunity in SSc patients support the idea that different autoimmune phenotypes may share common susceptibility variants. Objectives: To describe the frequency of familial autoimmunity and polyautoimmunity in 60 SSc patients in the Midwest region of Brazil, as well as to report the main autoimmune diseases observed in this association of comorbidities. Methods: A cross-sectional study with recruitment of 60 consecutive patients selected at the Rheumatology Department, University Hospital, Medicine School, Federal University of Mato Grosso do Sul (FMUFMS, as well as interviews of their relatives during the period from February 2013 to March 2014. Results: A frequency of 43.3% of polyautoimmunity and of 51.7% of familial autoimmunity in SSc patients was found. Patients with the presence of polyautoimmunity and familial autoimmunity presented primarily the diffuse form of SSc, but this indicator did not reach statistical significance. The autoimmune diseases most frequently observed in polyautoimmunity patients were: Hashimoto's thyroiditis (53.8%, Sjögren's syndrome (38.5%, and inflammatory myopathy (11.5%. The main autoimmune diseases observed in SSc patients' relatives were: Hashimoto's thyroiditis (32.3%, rheumatoid arthritis (22.6%, and SLE (22.6%. The presence of more than one autoimmune disease in SSc patients did not correlate with disease severity or activity. Conclusions: From the high prevalence of coexisting autoimmune diseases found in SSc patients, we stress the importance of the concept of shared autoimmunity, in order to promote a

  6. Autonomic Dysfunction Predicts Early Cardiac Affection in Patients with Systemic Sclerosis

    Directory of Open Access Journals (Sweden)

    Khaled M. Othman

    2010-01-01

    Full Text Available Objective To detect the early preclinical alterations in cardiac autonomic control as well as altered cardiac function in systemic sclerosis (SSc patients and their relevance to the clinical features of the disease using noninvasive methods. Methods 30 SSc patients and 15 healthy controls matched for age and sex underwent clinical examination, serological analysis, and echocardiographic assessment including Doppler flow imaging to evaluate cardiac function, and 24-hour Holter monitoring analyzed for arrhythmia and heart rate variability (HRV in the time and frequency domains. Results The trans-mitral Doppler of early to atrial wave (E/A ratio was reversed in five patients (16.6% and the tricuspid E/A ratio was reversed in 10 patients (33.3%. Holter analysis for SSc patients revealed an increased prevalence of premature ventricular contractions (PVC ≥ 10/h ( P = 0.02, supra-ventricular tachycardias (SVTs ( P = 0.2, and total PVC count ( P = 0.0000. Highly significant ( P = 0.000 impairment in all HRV parameters was demonstrated in the SSc patients. Total skin thickness score (TSS, Raynaud's phenomenon and anti-scleroderma 70 (anti-SCL70 showed significant positive correlations with all arrhythmia parameters, while showing a significant negative correlation with the impaired ventricular diastolic function and various HRV parameters. No correlation was found between arrhythmia and HRV parameters and disease duration, disease type, or presence of anti-centromere antibodies. Conclusion Low heart rate variability, increased TSS and the presence of anti-SCL70 are correlated with preclinical cardiac involvement in SSc patients and may predict the likelihood of malignant arrhythmia and sudden cardiac death. Therefore, noninvasive HRV evaluation before clinical cardiac involvement in these patients might be beneficial when added to the clinical and laboratory assessments in detecting high-risk patients, and may allow for implementation of preventive

  7. Improved pulmonary function following pirfenidone treatment in a patient with progressive interstitial lung disease associated with systemic sclerosis

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    Zarir F Udwadia

    2015-01-01

    Full Text Available Pirfenidone is an anti-fibrotic drug which has been approved for the management of patients with Idiopathic Pulmonary Fibrosis (IPF. However, its role in interstitial lung disease (ILD due to other causes such as systemic sclerosis (SSc is not clear. We present a case of a patient with SSc associated ILD who showed a subjective as well as objective improvement in lung function with pirfenidone.

  8. Expression of specific chemokines and chemokine receptors in the central nervous system of multiple sclerosis patients

    DEFF Research Database (Denmark)

    Sørensen, Torben Lykke; Tani, M; Jensen, J

    1999-01-01

    Chemokines direct tissue invasion by specific leukocyte populations. Thus, chemokines may play a role in multiple sclerosis (MS), an idiopathic disorder in which the central nervous system (CNS) inflammatory reaction is largely restricted to mononuclear phagocytes and T cells. We asked whether...

  9. Hypogelsolinemia, a disorder of the extracellular actin scavenger system, in patients with multiple sclerosis

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    Janmey Paul A

    2010-11-01

    Full Text Available Abstract Background Extracellular gelsolin (GSN and GC-globulin/Vitamin D-binding protein (DBP appear to play an important role in clearing the actin from extracellular fluids and in modulating cellular responses to anionic bioactive lipids. In this study we hypothesized that cellular actin release and/or increase in bioactive lipids associated with multiple sclerosis (MS development will translate into alteration of the actin scavenger system protein concentrations in blood and cerebrospinal fluid (CSF of patients with MS. Methods We measured GSN and DBP concentrations in blood and CSF obtained from patients diagnosed with MS (n = 56 in comparison to a control group (n = 20 that includes patients diagnosed with conditions such as idiopathic cephalgia (n = 11, idiopathic (Bell's facial nerve palsy (n = 7 and ischialgia due to discopathy (n = 2. GSN and DBP levels were measured by Western blot and ELISA, respectively. Results We found that the GSN concentration in the blood of the MS group (115 ± 78 μg/ml was significantly lower (p Conclusions The decrease of GSN concentration in blood and CSF of MS subjects suggests that this protein may be involved in chronic inflammation associated with neurodegeneration. Additionally, the results presented here suggest the possible utility of GSN evaluation for diagnostic purposes. Reversing plasma GSN deficiency might represent a new strategy in MS treatment.

  10. Nailfold digital capillaroscopic findings in patients with diffuse and limited cutaneous systemic sclerosis.

    Science.gov (United States)

    Shenavandeh, Saeedeh; Haghighi, Mahyar Yousefipour; Nazarinia, Mohammad Ali

    2017-01-01

    Systemic sclerosis (SSc) is a chronic disease with microvascular damage. Nailfold capillaroscopy is a non-invasive method used for evaluating capillaries in SSc. Its findings could be related to the internal organ involvement and SSc course. In this study, we aimed to determine the association of the capillaroscopic patterns of nailfold capillaries with the disease subtypes of SSc, disease duration, and clinical manifestations. Seventy patients with SSc (15 cases with diffuse cutaneous SSc [DcSSc] and 55 patients with limited SSc [LcSSc]) were studied. The patients were classified into early and intermediate/late DcSSc and LcSSc regarding their disease duration. The capillaroscopy findings were classified into normal, 'early', 'active' and 'late' scleroderma patterns, and 'non-specific' changes. The association of the nailfold capillaroscopy changes and their components with clinical manifestations was also studied. We studied 15 DcSSc and 55 LcSSc patients. No association was found between the patterns of capillaroscopic changes and these subtypes. There were 8 early DcSSc, 7 intermediate/late DcSSc, 34 early LcSSc, and 21 intermediate/late LcSSc patients. In patients with LcSSc, the 'early' scleroderma pattern of capillaroscopy was associated with early disease based on duration. We found a direct association between some capillary components and some clinical findings. Also, some capillaroscopic components had an inverse association with some clinical manifestations. We found no association between the patterns of capillaroscopy and SSc subtypes; early scleroderma pattern of capillaroscopy was significantly associated with early LcSSc, compatible with the slower course of the disease in LcSSc. Subtle changes, capillary elongation, and capillary tortuosity had an inverse association with clinical manifestations and might be considered as good prognostic factors.

  11. Disease-related and psychosocial factors associated with depressive symptoms in patients with systemic sclerosis, including fear of progression and appearance self-esteem.

    NARCIS (Netherlands)

    Kwakkenbos, C.M.C.; Lankveld, W.G. van; Vonk, M.C.; Becker, E.S.; Hoogen, F.H.J. van den; Ende, C.H.M. van den

    2012-01-01

    OBJECTIVE: The prevalence of depressive symptoms is high in patients with systemic sclerosis (SSc, scleroderma). This study was conducted to determine which disease-related and psychosocial factors are associated with depressive symptoms, independent of sociodemographic factors. METHODS: In total,

  12. Disease-related and psychosocial factors associated with depressive symptoms in patients with systemic sclerosis, including fear of progression and appearance self-esteem

    NARCIS (Netherlands)

    Kwakkenbos, C.M.C.; Lankveld, W.G.J.M. van; Vonk, M.C.; Becker, E.S.; Hoogen, F.H.J. van den; Ende, C.H.M. van den

    2012-01-01

    Objective: The prevalence of depressive symptoms is high in patients with systemic sclerosis (SSc, scleroderma). This study was conducted to determine which disease-related and psychosocial factors are associated with depressive symptoms, independent of sociodemographic factors. Methods: In total,

  13. Clinical significance of changes of plasma endothelial vasoactive factors contents after treatment in patients with systemic sclerosis (SSc)

    International Nuclear Information System (INIS)

    Wang Chunxi; Han Li'na; Yao Di; Wang Taihan

    2005-01-01

    Objective: To investigate the relationship between endothelial vasoactive factors and development of systemic sclerosis (SSc). Methods: Blood circulating endothelial cell count (CEC, with density gradient precipitation method); plasma endothelin (ET), thromboxane B 2 (TXB 2 ), 6-keto-prostaglandin F 1α concentrations (all above three with RIA); nitric oxide (NO) contents (with Griss method) and plasma intercellular adhesion molecule-1 (ICAM-1), p-selectin (P-S) contents (with ELISA) were measured in 52 patients with systemic sclerosis (SSc) both before and after treatment with prostaglandin E1 and 30 controls. Results: Plasma ET, TXB 2 , ICAM-1, P-S contents and CEC were significantly higher and plasma NO, 6-K-PGF 1α contents were significantly lower in all the patients with SSc before treatment than those in the controls, After treatment, the patients with satisfactory responses (n=33) had the abnormal plasma values of these parameters greatly corrected (vs before treatment P<0.05, P<0.01); while poorly responding patients had the plasma values little changed. Conclusion: Endothelial vasoactive factors are closely involved in the development of systemic sclerosis and may be used as predictors of treatment efficiency. (authors)

  14. On the respiratory mechanics measured by forced oscillation technique in patients with systemic sclerosis.

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    Ingrid Almeida Miranda

    Full Text Available BACKGROUND: Pulmonary complications are the most common cause of death and morbidity in systemic sclerosis (SSc. The forced oscillation technique (FOT offers a simple and detailed approach to investigate the mechanical properties of the respiratory system. We hypothesized that SSc may introduce changes in the resistive and reactive properties of the respiratory system, and that FOT may help the diagnosis of these abnormalities. METHODOLOGY/PRINCIPAL FINDINGS: We tested these hypotheses in controls (n = 30 and patients with abnormalities classified using spirometry (n = 52 and pulmonary volumes (n = 29. Resistive data were interpreted with the zero-intercept resistance (Ri and the slope of the resistance (S as a function of frequency. Reactance changes were evaluated by the mean reactance between 4 and 32 Hz (Xm and the dynamic compliance (Crs,dyn. The mechanical load was evaluated using the absolute value of the impedance in 4 Hz (Z4Hz. A compartmental model was used to obtain central (R and peripheral (Rp resistances, and alveolar compliance (C. The clinical usefulness was evaluated by investigating the area under the receiver operating characteristic curve (AUC. The presence of expiratory flow limitation (EFL was also evaluated. For the groups classified using spirometry, SSc resulted in increased values in Ri, R, Rp and Z4Hz (p0.90. In groups classified by pulmonary volume, SSc resulted in reductions in S, Xm, C and Crs,dyn (p0.80. It was also observed that EFL is not common in patients with SSc. CONCLUSIONS/SIGNIFICANCE: This study provides evidence that the respiratory resistance and reactance are changed in SSc. This analysis provides a useful description that is of particular significance for understanding respiratory pathophysiology and to ease the diagnosis of respiratory abnormalities in these patients.

  15. Determinants of unemployment amongst Australian systemic sclerosis patients: results from a multicentre cohort study.

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    Morrisroe, Kathleen; Huq, Molla; Stevens, Wendy; Rabusa, Candice; Proudman, Susanna M; Nikpour, Mandana

    2016-01-01

    We sought to assess employment status, risk factors for unemployment and the associations of unemployment with patients' health related quality of life (HRQoL). All patients enrolled in a systemic sclerosis (SSc) longitudinal cohort study, completed an employment questionnaire on enrolment. Clinical manifestations were defined based on presence at the time of enrolment. Summary statistics, chi-square tests, univariate and multivariable logistic regression were used to determine the associations of various risk factors with employment. Among 1587 SSc patients, 160 (20%) were unemployed at the time of cohort enrolment excluding retired patients. Of these, 63% had limited disease subtype. Mean (±SD) age at enrollment was 51.9 (±10.4) years; 13 years below the average retirement age in Australia. Mean (±SD) disease duration at recruitment was 11.1 (±10.9) years. Multivariable regression analysis revealed the presence of digital amputation (OR 3.9, 95%CI 1.7-9.1, p=0.002), diffuse disease subtype (OR 2.2, 95%CI 1.3-3.5, p-value=0.002), sicca symptoms (OR 2.7, 95%CI 1.6-4.4, punemployment. Unemployed patients had consistently poorer HRQoL scores in all domains (physical, emotional and mental health) of the SF-36 form than those who were employed. SSc is associated with substantial work disability and unemployment, which is in turn associated with poor quality of life. Raising awareness, identifying modifiable risk factors and implementing employment strategies and work place modifications are possible ways of reducing this burden.

  16. [Systemic sclerosis: a multisystem disease

    NARCIS (Netherlands)

    Berrevoets, M.A.; Markhorst, J.; Meek, I.; Ede, A.E. van; Vonk, M.C.

    2014-01-01

    Systemic sclerosis is a rare, systemic autoimmune disease, characterized by inflammation, vasculopathy and fibrosis of the skin and internal organs. The disease is associated with a significantly increased morbidity and mortality, and can be rapidly progressive. Interstitial lung disease, renal

  17. CURRENT VIEWS ON THE HETEROGENEITY OF RENAL INVOLVEMENTS IN PATIENTS WITH SYSTEMIC SCLEROSIS

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    A. V. Gordeev

    2015-01-01

    Full Text Available Systemic sclerosis (SS, is an autoimmune connective tissue disease, the main clinical signs of which are due to disseminated microcirculatory disorders and fibrosis of the skin and viscera. Morphological examinations showed that 80% of patients with SS had renal changes, including those unassociated with rheumatic diseases. Whereas the prevalence of scleroderma renal crisis is now estimated to be 2–5%, there is considerably often an asymptomatic reduction in renal function (silent uremia, which is caused by multimorbidity and comorbidity. Its incidence in patients with SS may be as high as 55%. The presence of autoimmune connective tissue disease may be itself regarded as a risk factor of renal involvement. Fifteen-year survival is 72% in SS patients with no renal involvement and not more than 13% in those having renal involvement. In patients with SS, proteinuria is one of the most important independent risk factors for fatal outcomes (relative risk, 3.34, leaving far behind canonical risk factors, such as pulmonary hypertension, restrictive lung disease (a forced expiratory volume in one second to forced vital capacity ratio of <80%, respiratory failure (NYHA Class III and IV, as well as decreased lung diffuse capacity and high skin scores. The authors first propose a concept of the existence and pathogenesis of chronic scleroderma nephropathy, the basis for which is the vascular endothelial dysfunction phenomenon developing in different structural components of the nephron and kidney as a whole.

  18. Hypogelsolinemia, a disorder of the extracellular actin scavenger system, in patients with multiple sclerosis

    Science.gov (United States)

    2010-01-01

    Background Extracellular gelsolin (GSN) and GC-globulin/Vitamin D-binding protein (DBP) appear to play an important role in clearing the actin from extracellular fluids and in modulating cellular responses to anionic bioactive lipids. In this study we hypothesized that cellular actin release and/or increase in bioactive lipids associated with multiple sclerosis (MS) development will translate into alteration of the actin scavenger system protein concentrations in blood and cerebrospinal fluid (CSF) of patients with MS. Methods We measured GSN and DBP concentrations in blood and CSF obtained from patients diagnosed with MS (n = 56) in comparison to a control group (n = 20) that includes patients diagnosed with conditions such as idiopathic cephalgia (n = 11), idiopathic (Bell's) facial nerve palsy (n = 7) and ischialgia due to discopathy (n = 2). GSN and DBP levels were measured by Western blot and ELISA, respectively. Results We found that the GSN concentration in the blood of the MS group (115 ± 78 μg/ml) was significantly lower (p < 0.001) compared to the control group (244 ± 96 μg/ml). In contrast, there was no statistically significant difference between blood DBP concentrations in patients with MS (310 ± 68 μg/ml) and the control group (314 ± 82 μg/ml). GSN and DBP concentrations in CSF also did not significantly differ between those two groups. Conclusions The decrease of GSN concentration in blood and CSF of MS subjects suggests that this protein may be involved in chronic inflammation associated with neurodegeneration. Additionally, the results presented here suggest the possible utility of GSN evaluation for diagnostic purposes. Reversing plasma GSN deficiency might represent a new strategy in MS treatment. PMID:21040581

  19. Quality of life in patients with systemic sclerosis compared to the general population and patients with other chronic conditions.

    Science.gov (United States)

    Hudson, Marie; Thombs, Brett D; Steele, Russell; Panopalis, Pantelis; Newton, Evan; Baron, Murray

    2009-04-01

    Systemic sclerosis (SSc) affects multiple physical, psychological, and social domains and is associated with impaired health-related quality of life (HRQOL).We compared the HRQOL of SSc patients with individuals in the general population and patients with other common chronic diseases. HRQOL of SSc patients in the Canadian Scleroderma Research Group registry was measured using version 2 of the Medical Outcomes Trust Short Form-36 (SF-36). Results were compared to US general population norms and scores reported for patients with other common chronic diseases, namely heart disease, lung disease, hypertension, diabetes, and depression. SF-36 scores were available for 504 SSc patients (86% women, mean age 56 yrs, mean disease duration since onset of first non-Raynaud's manifestation of SSc 11 yrs). The greatest impairment in SF-36 subscale scores appeared to be in the physical functioning, general health, and role physical domains. SF-36 subscale and summary scores in SSc were significantly worse compared to US general population norms for women of similar ages, except for mental health and mental component summary score, which were not significantly different, and were generally comparable to or worse than the scores of patients with other common chronic conditions. HRQOL of patients with SSc is significantly impaired compared to that of the general population and is comparable to or worse than that of patients with other common chronic conditions.

  20. Mucocutaneous and demographic features of systemic sclerosis: A profile of 46 patients from Eastern India

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    Sudip Kumar Ghosh

    2012-01-01

    Full Text Available Background: Systemic sclerosis (SSc is a multisystem connective tissue disorder of uncertain etiology. The clinical picture is frequently dominated by prominent cutaneous manifestations that have diagnostic and prognostic significance. The objective of the present study was to find out the demographic profile and the relative frequencies and characteristics of different mucocutaneous features of SSc in a group of patients from eastern India. In addition, we sought to compare the frequency and pattern of the findings in the limited versus the diffuse variety of the disease. Materials and Methods:This was a cross-sectional, clinical observational study. Consecutive patients of SSc attending the dermatology O.P.D. of a tertiary care hospital of eastern India over 3 years were enrolled to the present study. Results:A total of 46 patients (41 females and 5 males; mean age 29.6±12.3 years of SSc were evaluated. Among mucocutaneous manifestations Raynaud′s phenomenon was present in 39 (84.8% patients. Other cutaneous features included dyspigmentation (40, 86.9%, sclerodactyly (38, 82.6%, inability to open the mouth (38,82.6%, mat-like telangiectasia (11,23.1%, fingertip ulceration and scarring (29,63%, cutaneous calcinosis (1,2.2%, digital gangrene in (2,4.3%, generalized pruritus (4,8.7%, cutaneous small vessel vasculitis (2,4.3%, chronic urticaria (2,4.3%, flexion contractures of the fingers (13,28.3%, and amputation of the digits (3,6.5%. Mucosal changes were observed in 10 (21.7% patients and nail changes were seen in 13 (28.2% patients. Diffuse cutaneous SSc was noted in 27 (58.7% patients and limited cutaneous SSc was seen in the remainder. Thirty-six (78.2% patients tested positive for ANA. Conclusion: The present study provides a snapshot of the spectrum of the demographic and mucocutaneous manifestations of SSc in the eastern Indian population. We have not observed any statistically significant differences between dcSSc and lcSSc in terms

  1. Selected methods of rehabilitation in systemic sclerosis

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    Agnieszka Gerkowicz

    2017-09-01

    Full Text Available Systemic sclerosis is a chronic connective tissue disease characterized by microvascular abnormalities, immune disturbances and progressive fibrosis of the skin and internal organs. Skin involvement may result in contractures, leading to marked loss of hand mobility, adversely affecting the performance of daily activities and decreasing the quality of life. Face involvement not only causes functional loss, but also lowers the self-esteem of patients. Increasing attention has recently been focused on the need to rehabilitate patients with systemic sclerosis in order to prevent the development of joint contractures and loss of mobility. The study presents a review of the current literature on rehabilitation possibilities in patients with systemic sclerosis, with a special focus on physiotherapy methods.

  2. Clinical differences between Thai systemic sclerosis patients with positive versus negative anti-topoisomerase I.

    Science.gov (United States)

    Foocharoen, Chingching; Suwannachat, Prangsuporn; Netwijitpan, Sittichai; Mahakkanukrauh, Ajanee; Suwannaroj, Siraphop; Nanagara, Ratanavadee

    2016-03-01

    Anti-topoisomerase I antibody (ATA) carries an increased risk of systemic sclerosis (SSc) internal organ involvement. There have been no published comparisons of the clinical characteristics of patients positive and negative for ATA in Thailand, where the positive rate for ATA is higher than among Caucasians. To define the clinical differences between SSc, positive versus negative, for ATA. A retrospective cohort study was performed among SSc patients over 18 at Srinagarind Hospital, Khon Kaen University, Thailand, during January 2006-December 2013. SSc-overlap syndrome was excluded. Two hundred and ninety-four SSc patients were included (female : male 2.5 : 1). The majority (68.6%) were the diffuse cutaneous SSc subset (dcSSc). ATA was positive in 252 patients (85.7%), among whom 71.7% had dcSSc and 28.2% limited cutaneous SSc (lcSSc). Using a multivariate analysis, hand deformity had a significantly positive association with ATA (odds ratio [OR] 7.01; 95% CI 1.02-48.69), whereas being anti-centromere (ACA) positive had a negative association (OR 0.17; 95% CI 0.03-0.92). After doing a subgroup analysis of the SSc subset, the median duration of disease at time of pulmonary fibrosis detection among ATA positive dcSSc was significantly shorter than the ATA negative group (1.05 vs. 6.77 years, P = 0.01). Raynaud's phenomenon (RP) at onset was significantly more frequent in lcSSc sufferers who were ATA negative than those who were ATA positive (90.5% vs. 56.9%, P = 0.005). A high prevalence of ATA positivity was found among Thai SSc patients and this was associated with a high frequency of hand deformity, ACA negativity, a short duration of pulmonary fibrosis in dcSSc and a lower frequency of RP in lcSSc. © 2014 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

  3. Illness representations of systemic lupus erythematosus and systemic sclerosis: a comparison of patients, their rheumatologists and their general practitioners.

    Science.gov (United States)

    Arat, Seher; Lenaerts, Jan L; De Langhe, Ellen; Verschueren, Patrick; Moons, Philip; Vandenberghe, Joris; Taelman, Veerle; Westhovens, Rene

    2017-01-01

    Discrepancies in illness representations between patients and physicians result in treatment difficulties, decreased well-being of patients and misunderstandings and disrupted communication. Hence, the objective of this study was to compare illness perceptions of individual patients with systemic lupus erythematosus (SLE) and systemic sclerosis (SSc), their rheumatologists and their general practitioners (GPs) and explore potential differences. This study has a cross-sectional design. Patients with SLE and SSc, who were followed at the rheumatology department of the University Hospitals Leuven (Belgium), completed the revised Illness Perception Questionnaire which measures patients' perceptions of their condition and captures nine dimensions. Physicians completed the Revised Illness Perception Questionnaire for Healthcare Professionals which consists of seven dimensions and measures perceptions of the healthcare professional regarding the disease of their patients. Intraclass correlation was performed to examine relationships between pairs of respondents; Cohen's d was used for estimating the magnitude of the difference. Questionnaires were sent to 284 patients of whom 241 (113 SSc and 128 SLE patients) were included. Five rheumatologists and 160 GPs participated. For both diseases, positive correlations were found for 'consequences', 'illness coherence' and 'emotional representations' among patients, rheumatologists and GPs. GPs scored higher on the 'consequences' of these diseases for the patient (d=0.71 for SLE; d=0.80 for SSc). Differences between rheumatologists and GPs were small for SSc and moderate to large for 'consequences' (d=0.56) and 'timeline acute/chronic' (d=0.95) in SLE with higher scores for GPs. For both diseases and among the three groups, significant correlations are detected for the dimensions 'consequences', 'illness coherence' and 'emotional representations'. Differences between rheumatologists and GPs were mainly detected in the case of SLE

  4. Correlation of Endostatin and Tissue Inhibitor of Metalloproteinases 2 (TIMP2 Serum Levels With Cardiovascular Involvement in Systemic Sclerosis Patients

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    Bozena Dziankowska-Bartkowiak

    2005-01-01

    pathogenesis of SSc. Heart fibrosis is one of the most important prognostic factors in SSc patients. So, the aim of our study was to examine cardiovascular dysfunction in SSc patients and its correlation with serum levels of vascular endothelial growth factor (VEGF, endostatin, and tissue inhibitor of metalloproteinase 2 (TIMP2. The study group comprised 34 patients (19 with limited scleroderma (lSSc and 15 with diffuse scleroderma (dSSc. The control group consisted of 20 healthy persons, age and sex matched. Internal organ involvement was assessed on the basis of specialist procedures. Serum VEGF, endostatin, and TIMP2 levels were evaluated by ELISA. We found cardiovascular changes in 15 patients with SSc (8 with lSSc and 7 with dSSc. The observed symptoms were of different characters and also coexisted with each other. Higher endostatin serum levels in all systemic sclerosis patients in comparison to the control group were demonstrated (P<.05. Also higher serum levels of endostatin and TIMP2 were observed in patients with cardiovascular changes in comparison to the patients without such changes (P<.05. The obtained results support the notion that angiogenesis and fibrosis disturbances may play an important role in SSc. Evaluation of endostatin and TIMP2 serum levels seems to be one of the noninvasive, helpful examinations of heart involvement in the course of systemic sclerosis.

  5. Paradoxical reaction of raynaud phenomenon following the repeated administration of iloprost in a patient with diffuse cutaneous systemic sclerosis.

    Science.gov (United States)

    Barreira, Rebeca Iglesias; García, Belén Bardán; López, Mónica Granero; Legazpi, Iria Rodríguez; Díaz, Hortensia Álvarez; Penín, Isaura Rodríguez

    2012-10-01

    To report a paradoxical reaction of Raynaud phenomenon following the repeated administration of iloprost in a patient with diffuse cutaneous systemic sclerosis with vascular involvement. In January 2006, a 40-year-old male was diagnosed with diffuse cutaneous systemic sclerosis with pulmonary, esophageal, cutaneous, and vascular involvement (Raynaud phenomenon, with digital ulcers on his hands). In December 2008, treatment with iloprost was started due to worsening disease. Nine cycles of iloprost were administered at a rate of 0.5-1 ng/kg/min (6 hours per day, for 5 days every 6-8 weeks); the patient tolerated this treatment well. However, on the fourth day of cycles 10 and 11, the patient developed paradoxical Raynaud phenomenon in the hand with perfusion when the infusion was increased to 1 ng/kg/min, requiring treatment to be stopped. Treatment was continued during cycles 12 and 13 at 0.5 ng/kg/min; the patient tolerated the treatment well, although paradoxical Raynaud phenomenon occurred when the rate of infusion was increased. Raynaud phenomenon is extremely common in patients with scleroderma, and often is severe. Iloprost has vasodilating, antiplatelet, cytoprotective, and immunomodulating properties, and has been found to be an efficacious alternative to nifedipine for the treatment of Raynaud phenomenon in patients with scleroderma. The Naranjo probability scale indicated that iloprost was the probable cause of the paradoxical Raynaud phenomenon in this patient. This case demonstrates a probable relationship between the rate of infusion of iloprost and the paradoxical reaction of Raynaud phenomenon.

  6. STRUCTURAL AND FUNCTIONAL CHANGES EVALUATED BY ECHOCARDIOGRAPHY IN PATIENTS WITH SYSTEMIC SCLEROSIS AND HEART RATE VARIABILITY

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    E. O. Saad

    2017-01-01

    Full Text Available Objective: to estimate heart rate variability (HRV in patients with systemic sclerosis (SS and to investigate their relationship to echocardiographic structural and functional changes in the heart.Subjects and methods. The investigation enrolled 125 patients with SS and 50 gender- and age-matched apparently healthy individuals who made up a control group. In addition to clinical examinations, 73 patients underwent HRV assessment from 24-hour Holter electrocardiogram (ECG monitoring results and 121 patients had echocardiography (EchoCG. 24-hour Holter ECG monitoring was carried out in all control individuals.Results and discussion. Examination of the main parameters of time-domain HRV in patients with SS revealed a significant decline in all temporal and spectral indices, except for the mean R–R interval duration (meanNN, as compared with the control group. EchoCG detected a variety of changes, primarily the induration and calcification of aortic and mitral valves in most patients. Left ventricular diastolic dysfunction was encountered in almost half of the patients with SS. Eight patients had a lower left ventricular ejection fraction (LVEF, which was <55%. Studying the association of HRV values with separate EchoCG parameters revealed significant inverse correlations of the mean standard deviation of R–R intervals in 5-minute recording segments during 24 hours with the thickness of the interventricular septum (r = -0.18; p < 0.05 and with the induration of the aortic valve (r = -0.18; p < 0.05; the square root mean squared of successive differences (RMSSD, ms for R–R intervals and the percentage of adjacent R–R intervals that varied by more than 50 ms (pNN50 correlated with the induration of the aortic valve (r = -0.23; p<0.05 and r = -0.25; p < 0.05, respectively, with the presence of pericarditis (r = -0.24; p < 0.05 and r = -0,27; p < 0.05, respectively, and with the level of pulmonary artery systolic pressure (r = -0

  7. Metallothionein expression in the central nervous system of multiple sclerosis patients

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    Penkowa, M; Espejo, C; Ortega-Aznar, A

    2003-01-01

    Multiple sclerosis (MS) is a major chronic demyelinating and inflammatory disease of the central nervous system (CNS) in which oxidative stress likely plays a pathogenic role in the development of myelin and neuronal damage. Metallothioneins (MTs) are antioxidant proteins induced in the CNS...... by tissue injury, stress and some neurodegenerative diseases, which have been postulated to play a neuroprotective role. In fact, MT-I+II-deficient mice are more susceptible to developing experimental autoimmune encephalomyelitis (EAE), and treatment of Lewis rats with Zn-MT-II reduces EAE severity. We show...

  8. Mapping and predicting mortality from systemic sclerosis

    DEFF Research Database (Denmark)

    Elhai, Muriel; Meune, Christophe; Boubaya, Marouane

    2017-01-01

    OBJECTIVES: To determine the causes of death and risk factors in systemic sclerosis (SSc). METHODS: Between 2000 and 2011, we examined the death certificates of all French patients with SSc to determine causes of death. Then we examined causes of death and developed a score associated with all-ca...

  9. Progressive systemic sclerosis in a child

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    Arun K De

    2013-01-01

    Full Text Available Systemic sclerosis is a clinically heterogeneous systemic disease affecting the connective tissues of skin, walls of blood vessels and internal organs like lung, heart and kidneys. Systemic sclerosis is very unusual in pediatric population. Children represent fewer than 10% of all cases. We report a case of 11 years old girl of progressive systemic sclerosis presenting with features of cutaneous sclerosis, microstomia, mask-like facies, sclerodactyly, esophageal dysmotility, Raynaud′s phenomenon, arthralgia and pulmonary fibrosis.

  10. Efficacy of Botulinum Toxin B Injection for Raynaud's Phenomenon and Digital Ulcers in Patients with Systemic Sclerosis.

    Science.gov (United States)

    Motegi, Sei-Ichiro; Uehara, Akihito; Yamada, Kazuya; Sekiguchi, Akiko; Fujiwara, Chisako; Toki, Sayaka; Date, Yuki; Nakamura, Tetsuya; Ishikawa, Osamu

    2017-07-06

    The efficacy and safety of botulinum toxin B (BTX-B) for treatment of Raynaud's phenomenon and digital ulcers in patients with systemic sclerosis was assessed. A total of 45 patients with systemic sclerosis who had Raynaud's phenomenon were blinded and divided randomly into 4 groups: a no-treatment control group, and 3 treatment groups, using 250, 1,000 or 2,000 international units (U) of BTX-B injections in the hand with more severe symptoms. Four weeks after injection, pain/numbness visual analogue scale scores and Raynaud's score in the groups treated with 1,000 and 2,000 U BTX-B were significantly lower than in the control group and the group treated with 250 U BTX-B. These beneficial effects were sustained until 16 weeks after the single injection. At 4 weeks after injection skin temperature recovery in the group treated with 2,000 U BTX-B was significantly improved. The numbers of digital ulcers in the groups treated with 1,000 and 2,000 U BTX-B were significantly lower than in the control group. In conclusion, 1,000 and 2,000 U BTX-B injections significantly suppressed the activity of Raynaud's phenomenon and digital ulcers in patients with SSc without serious adverse events.

  11. Depressive symptoms in patients with systemic sclerosis: Association between clinical variables, functional status and the quality of life

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    Mustafa Akif Sarıyıldız

    2013-03-01

    Full Text Available Objective: The aim of this study is to evaluate the relationshipbetween the depressive symptoms with diseaserelatedvariables, functional status and quality of life inpatients with systemic sclerosis (SSc.Material and methods: Forty patients diagnosed withSSc and 36 healthy control subjects were enrolled in thestudy. The demographic and clinical characteristics of thepatients such as the Raynaud’s phenomenon, SSc subtype,digital ulcers, gastrointestinal and lung involvementand disease activity were recorded. All patients were assessedusing the Short Form-36 Quality of Life (SF-36QoL scale, the Health Assessment Questionnaire (HAQand the Beck Depression Inventory (BDI. Generalizedpain and fatigue was assessed with the Visual AnalogueScale.Results: The patients with SSc had significantly higherscores in the depressive symptoms in terms of the BDIscore compared to the healthy control group. Accordingto the results of Spearman’s analysis, there was a significantlycorrelation between the depressive symptomswith education level, generalized pain, dyspnea, diseaseactivity score, gastroesophageal reflux, dysphagia, functionalstatus, mental and physical score of the SF-36.Conclusion: Depressive symptoms is enhanced in patientswith SSc. Depressive symptoms is especially associatedwith the generalised pain, disease activity, dysphagia,functional status, mental and quality of life in patientswith SSc.Key words: Systemic sclerosis, depressive symptom,pain, functional status, quality of life

  12. Risk of coronary artery disease in patients with systemic sclerosis: a systematic review and meta-analysis.

    Science.gov (United States)

    Ungprasert, Patompong; Charoenpong, Prangthip; Ratanasrimetha, Praveen; Thongprayoon, Charat; Cheungpasitporn, Wisit; Suksaranjit, Promporn

    2014-08-01

    Several chronic inflammatory disorders, such as rheumatoid arthritis and systemic lupus erythematosus, have been shown to increase coronary artery disease (CAD) risk but the data on systemic sclerosis (SSc) is unclear. We conducted a systematic review and meta-analysis of observational studies that reported odds ratio, relative risk, hazard ratio, or standardized incidence ratio comparing CAD risk in patients with SSc versus non-SSc participants. Pooled risk ratio and 95 % confidence intervals were calculated using a random effect, generic inverse variance method. Four studies were identified and included in our data analysis. The pooled risk ratio of CAD in patients with SSc was 1.82 (95 % CI, 1.40 to 2.36). The statistical heterogeneity of this meta-analysis was moderate with an I (2) of 73 %. Our study demonstrated a statistically significant increased CAD risk among patients with SSc.

  13. Growth Differentiation Factor-15 (GDF-15) Level and Relation to Clinical Manifestations in Egyptian Systemic Sclerosis patients: Preliminary Data.

    Science.gov (United States)

    Gamal, Sherif M; Elgengehy, Fatema T; Kamal, Asmaa; El Bakry, Samah A; Shabaan, Elham; Elgendy, Aliaa; Bassyouni, Iman H

    2017-10-01

    This study aims to assess Growth differentiation factor-15 (GDF-15) level in Scleroderma patients and its relation to disease manifestations. This study included 55 scleroderma patients and 40 age and sex matched healthy volunteers. All patients were subjected to full history taking, thorough clinical examination, and laboratory investigations. GDF-15 serum levels were analyzed in patients and controls using human GDF-15 immunoassay Quantikine ELISA kit. The GDF-15 serum level was significantly higher in Systemic sclerosis (SSc) patients in comparison to healthy control individuals, p-value = 0.004. In addition, the GDF-15 serum levels increased in a significant way in patients with diffuse SSc than those with limited SSc, p = 0.026. Also, we had discovered a significant positive correlation between serum GDF-15 levels and the modified Rodnan score of the SSc patients, r = 0.442, p = 0.001 and a significant association was found between high GDF-15 level and SSc patients with interstitial pulmonary fibrosis (IPF) as compared to healthy controls (p = 0.002). However, no significant difference was found between SSc patients without IPF and healthy subjects regarding GDF-15 level (p = 0.106). GDF-15 serum levels were elevated in patients with SSc and correlated with the extent of skin fibrosis, and it was found to be higher in SSc patients with IPF. Such results may suggest a pivotal role of GDF-15 in fibrotic changes in SSc, and GDF-15 could be a treatment target in SSc patients in future.

  14. Esophageal transit scintigraphy in systemic sclerosis

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    Marek Chojnowski

    2016-11-01

    Full Text Available Systemic sclerosis is a rare connective tissue disease, distinctive features of which are fibrosis and microangiopathy. The esophagus is one of the most commonly involved internal organs. Most patients experience dysphagia, difficulties in swallowing and gastro-esophageal reflux. However, in up to one third of cases, the initial onset of esophageal disease may be clinically silent. There are several diagnostic modalities available for assessing both morphological and functional abnormalities of the esophagus. If structural abnormalities are suspected, endoscopy is the method of choice. Functional evaluation is best achieved with manometry. Both endoscopy and manometry are invasive techniques, with low patient acceptance. Barium-contrast study is well tolerated, but qualitative assessment of functional abnormalities is imprecise. Esophageal scintigraphy is an easy, non-invasive, sensitive and specific diagnostic modality. It can detect esophageal dysfunction even in asymptomatic patients. In patients already diagnosed with systemic sclerosis, scintigraphy is useful in evaluating severity and progression of the disease.

  15. Clinical characteristics of children with Juvenile Systemic Sclerosis: follow-up of 23 patients in a single tertiary center

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    Katsicas María M

    2007-05-01

    Full Text Available Abstract Background Juvenile systemic sclerosis (JSS is a multisystem connective tissue disease characterized by skin fibrosis and internal organ involvement. It has a low prevalence, even in a tertiary facility setting. The purpose of the present study is to describe and analyze the clinical and laboratory characteristics of a group of children with JSS followed in a single center. Methods Clinical charts of children with a diagnosis of JSS who were seen at a tertiary referral center between 1995 and 2005 were reviewed. Clinical features were recorded and analysed. Results Twenty-three patients who met preliminary classification criteria for JSS were included. Age at first symptom attributable to JSS was 6 (1–14 years, The first symptom attributable to JSS was Raynaud's phenomenon in 14 cases. Proximal sclerosis (23 patients, 100%, sclerodactyly (21, 91%, Raynaud's phenomenon (19, 83%, and periungual capillaropathy (17, 74% were the most consistent clinical findings during follow-up. Respiratory involvement occurred in two thirds of our patients, and it manifested as dyspnea as well as abnormal imaging and/or pulmonary function tests; pulmonary hypertension was an infrequent finding. Dysphagia was the commonest gastrointestinal symptom (9 patients, 39%. The most frequent musculoskeletal symptom was arthralgia (14 children, 6%; symmetrical arthritis was found in 8 (35% patients. Periungual capillary abnormalities were evident during physical examination in 17 children; capillaroscopy revealed abnormalities in all 19 examined patients. ANA were present in 17 (74% children: homogeneous pattern was the most frequent (8 patients, nucleolar (5 and speckled (4 were less common. Conclusion Raynaud's phenomenon heralds the beginning of the disease. Capilaroscopy is a major adjuvant in the diagnosis, since autoantibody determination may not offer sensitive and specific markers. Skin and vascular manifestations are the most common clinical features

  16. Estudo da densidade óssea na esclerodermia sistêmica Bone density in systemic sclerosis (scleroderma patients

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    H.C. da Silva

    1997-03-01

    Full Text Available OBJETIVO. A osteopenia em pacientes com esclerodermia sistêmica foi descrita, radiologicamente, em mãos e, por densidade óssea, no terço proximal e distal do rádio. A redução da massa óssea, nesses pacientes, tem sido atribuída à isquemia, imobilização e à menopausa precoce. O objetivo deste estudo é analisar a densidade óssea na coluna, região proximal do fêmur e corpo todo de pacientes com esclerodermia sistêmica. PACIENTES E MÉTODO. Foram examinadas 25 pacientes caucasóides, sem outras condições que pudessem afetar o metabolismo ósseo. A média de idade das pacientes foi de 48 ± 12 anos, e o tempo de doença, de 7 ± 7 anos; 13 estavam na pós-menopausa há 8 ± 8 anos. A medida de massa óssea foi realizada na coluna, região proximal do fêmur e corpo todo, utilizando-se densitômetro de dupla emissão com fonte de raios X (Lunar - modelo DPX. RESULTADOS. Não houve diferença estatisticamente significante na densidade óssea das regiões avaliadas nas pacientes com esclerodermia sistêmica e as mulheres-controle pareadas para a idade, peso, altura e anos de menopausa. A densidade óssea das pacientes com forma limitada não foi diferente daquelas com a forma difusa. Pacientes com calcinose apresentaram menor densidade óssea na região proximal do fêmur que aquelas sem calcinose. CONCLUSÕES. Os autores concluíram que pacientes com esclerodermia sistêmica não apresentam perda de massa óssea. Portanto, a esclerodermia não é um fator de risco para o desenvolvimento de osteoporose generalizada.BACKGROUND - Osteopenia in systemic sclerosis (scleroderma patients was reported in X-ray studies of hands and by proximal and distal forearm bone mass measurement. It has been suggested that bone loss in these patients might be due to chronic ischemia, immobilization and early menopause. Nevertheless it is not established if these patients present generalized osteopenia. To shed light into this point we studied bone

  17. Chromosomal radiosensitivity in patients with multiple sclerosis

    International Nuclear Information System (INIS)

    Milenkova, Maria; Milanov, Ivan; Kmetska, Ksenia; Deleva, Sofia; Popova, Ljubomira; Hadjidekova, Valeria; Groudeva, Violeta; Hadjidekova, Savina; Domínguez, Inmaculada

    2013-01-01

    Highlights: • We studied radiosensitivity to in vitro γ-irradiated lymphocytes from MS patients. • Immunotherapy in RRMS patients reduced the yield of radiation induced MN. • The group of treated RRMS accounts for the low radiosensitivity in MS patients. • Spontaneous yield of MN was similar in treated and untreated RRMS patients. - Abstract: Multiple sclerosis is a clinically heterogeneous autoimmune disease leading to severe neurological disability. Although during the last years many disease-modifying agents as treatment options for multiple sclerosis have been made available, their mechanisms of action are still not fully determined. In the present study radiosensitivity in lymphocytes of patients with relapsing–remitting multiple sclerosis, secondary progressive multiple sclerosis and healthy controls was investigated. Whole blood cultures from multiple sclerosis patients and healthy controls were used to analyze the spontaneous and radiation-induced micronuclei in binucleated lymphocytes. A subgroup of patients with relapsing–remitting multiple sclerosis was treated with immunomodulatory agents, interferon β or glatiramer acetate. The secondary progressive multiple sclerosis patients group was not receiving any treatment. Our results reveal that the basal DNA damage was not different between relapsing–remitting and secondary progressive multiple sclerosis patients, and healthy controls. No differences between gamma-irradiation induced micronuclei frequencies in binucleated cells from relapsing–remitting and secondary progressive multiple sclerosis patients, and healthy controls were found either. Nevertheless, when we compared the radiation induced DNA damage in binucleated cells from healthy individuals with the whole group of patients, a reduction in the frequency of micronuclei was obtained in the patients group. Induced micronuclei yield was significantly lower in the irradiated samples from treated relapsing–remitting multiple

  18. Chromosomal radiosensitivity in patients with multiple sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Milenkova, Maria; Milanov, Ivan; Kmetska, Ksenia [III Neurological Clinic, University Hospital Saint Naum, Sofia (Bulgaria); Deleva, Sofia; Popova, Ljubomira; Hadjidekova, Valeria [Laboratory of Radiation Genetics, NCRRP, Sofia (Bulgaria); Groudeva, Violeta [Department of Diagnostic Imaging, University Hospital St. Ekaterina, Sofia (Bulgaria); Hadjidekova, Savina [Department of Medical Genetics, Medical University, Sofia (Bulgaria); Domínguez, Inmaculada, E-mail: idomin@us.es [Department of Cell Biology, Faculty of Biology, University of Seville, Avda. Reina Mercedes 6, 41012 (Spain)

    2013-09-15

    Highlights: • We studied radiosensitivity to in vitro γ-irradiated lymphocytes from MS patients. • Immunotherapy in RRMS patients reduced the yield of radiation induced MN. • The group of treated RRMS accounts for the low radiosensitivity in MS patients. • Spontaneous yield of MN was similar in treated and untreated RRMS patients. - Abstract: Multiple sclerosis is a clinically heterogeneous autoimmune disease leading to severe neurological disability. Although during the last years many disease-modifying agents as treatment options for multiple sclerosis have been made available, their mechanisms of action are still not fully determined. In the present study radiosensitivity in lymphocytes of patients with relapsing–remitting multiple sclerosis, secondary progressive multiple sclerosis and healthy controls was investigated. Whole blood cultures from multiple sclerosis patients and healthy controls were used to analyze the spontaneous and radiation-induced micronuclei in binucleated lymphocytes. A subgroup of patients with relapsing–remitting multiple sclerosis was treated with immunomodulatory agents, interferon β or glatiramer acetate. The secondary progressive multiple sclerosis patients group was not receiving any treatment. Our results reveal that the basal DNA damage was not different between relapsing–remitting and secondary progressive multiple sclerosis patients, and healthy controls. No differences between gamma-irradiation induced micronuclei frequencies in binucleated cells from relapsing–remitting and secondary progressive multiple sclerosis patients, and healthy controls were found either. Nevertheless, when we compared the radiation induced DNA damage in binucleated cells from healthy individuals with the whole group of patients, a reduction in the frequency of micronuclei was obtained in the patients group. Induced micronuclei yield was significantly lower in the irradiated samples from treated relapsing–remitting multiple

  19. UVA1 for diffuse cutaneous systemic sclerosis in a Fitzpatrick skin type VI patient: outcomes in the modified Rodnan skin score

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    Bárbara Roque Ferreira

    2017-04-01

    Full Text Available Introduction: Cutaneous sclerosis can lead to important mobility impairment. Ultraviolet (UV A1 phototherapy may improve skin sclerosis, although most of the studies have been with Caucasian patients. Material and Methods: A 44-year-old patient, Fitzpatrick skin type VI, was being followed up with the diagnosis of diffuse cutaneous systemic sclerosis. He had significant mobility impairment, especially of the right hand and arm. In 2015 he started UVA1 phototherapy daily, Monday until Friday (Waldmann® 7001 UVA cabin equipped with 40 Philips TL/10R lamps − spectral irradiation between 340 and 400 nm. The initial dose was 10 J/cm2, rapidly increased up to a steady dose of 35 J/cm2. Results: After 40 sessions of UVA1, active fingers flexion and abduction of the right arm significantly improved and the modified Rodnan skin score changed from 26 to 11. Conclusion: The modified Rodnan skin score is a practical and useful tool during the follow-up of patients with systemic sclerosis. UVA1 phototherapy improves cutaneous sclerosis, and the related mobility impairment, and a dose of 35 J/cm2 is effective, even in higher phototypes, having a good safety profile.

  20. HLA typing in systemic sclerosis

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    M. Faré

    2011-09-01

    Full Text Available Objective: the aim of the study was to investigate the relationship between Systemic Sclerosis (SSc and HLA antigens, and to correlate these antigens with the clinical manifestations of the disease. Materials and methods: 55 patients were stratified according a to the cutaneous involvement b to the positivity of Scl- 70 and anticentromere antibody and c to the internal organ involvement, in particular we used HRCT to demonstrate lung fibrosis, echocardiography for the diagnosis of pulmonary hypertension, blood creatinine, urinalysis and arterial hypertension to demonstrate renal failure, and esophagus double-countrast barium swallow for the diagnosis of esophagopathy. The control group consisting of 2000 healthy Caucasian subjects was recruited from the same population. Results: the frequency of the antigens A23 (p=0.003, RR=3.69, B18 (p<0.0001, RR=3.57, and DR11 (p<0.0001, RR=6.18 was statistically increased in the patients population compared with the healthy controls. Although there is no any significant correlation between HLA antigens and different clinical subsets of scleroderma, antigens B18 and DR11 could be associated with more severe clinical features. Conclusions: the presence of a significant association between SSc and specific HLA antigens (A23, B18, and DR11 could link the HLA system with SSc.

  1. Primary sclerosing cholangitis associated with systemic sclerosis.

    Science.gov (United States)

    Fraile, G.; Rodríguez-García, J. L.; Moreno, A.

    1991-01-01

    Primary sclerosing cholangitis is a chronic inflammatory fibrotic disorder strongly associated with inflammatory bowel disease. Although an association between some inflammatory fibrotic conditions, such as Riedel's thyroiditis and retroperitoneal fibrosis and primary sclerosing cholangitis has been described, to our knowledge there are no reports of primary sclerosing cholangitis in patients with systemic sclerosis. A patient with this combination of conditions is presented and the possible significance of the association discussed. Images Figure 1 Figure 2 PMID:2041852

  2. Association between systemic lupus erythematosus and multiple sclerosis: lupoid sclerosis

    International Nuclear Information System (INIS)

    Medina, Yimy F; Martinez, Jose B; Fernandez, Andres R; Quintana, Gerardo; Restrepo, Jose Felix; Rondon, Federico; Gamarra, Antonio Iglesias

    2010-01-01

    Multiple sclerosis (MS) and Systemic Lupus Erythematosus (SLE) with/without antiphospholipid syndrome are autoimmune illnesses. It has been described in many occasions the association of these two illnesses and the clinical picture of MS with characteristics of laboratory of SLE. When they affect to the central nervous system they can make it in a defined form for each illness or they can also make it in interposed or combined form of the two illnesses what has been called lupoid sclerosis; making that in some cases difficult the differentiation of the two illnesses and therefore to address the treatment. We present four cases of lupoid sclerosis, discuss the clinical and laboratory characteristics of this entity and we make a differentiation of the multiple sclerosis with the neurological affectation of SLE especially for images and laboratory results.

  3. Relationship of endothelial dysfunction and kidney functional state in patients with systemic sclerosis

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    A M Basova

    2009-01-01

    Full Text Available Objective. To study vasoregulatory function of vascular wall in pts with systemic sclerosis (SS and chronic scleroderma-related renal disease (SRD and determine relationship with main measures of kidney functional state. Material and methods. 25 pts with SS (24 female with mean age 46,4±10,7 years and mean disease duration 7,5±4,7 years were included. 24 pts (96% had diffuse form and 17 pts (68% – generalized stage of SS. 22 pts (88% had chronic course of the disease with typical damage of vessels, heart, lungs and skin. SRD was revealed in 17 pts (68%. Sonographic method of Celermejer D. et al. (1992 was used for assessment of vascular endothelial function. 15 healthy persons without SS were included in control group. Results. Most prominent changes of brachial artery reactivity with insufficient vasodilatation and paradoxical vasoconstriction to reactive hyperemia were revealed in most pts with moderate and severe SRD. Conclusion. These changes of endothelium dependent and endothelium independent parameters in pts with SRD pointed to irreversible probably scleroderma-related vascular wall damage.

  4. Fructose Malabsorption in Systemic Sclerosis.

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    Marie, Isabelle; Leroi, Anne-Marie; Gourcerol, Guillaume; Levesque, Hervé; Ménard, Jean-François; Ducrotte, Philippe

    2015-09-01

    The deleterious effect of fructose, which is increasingly incorporated in many beverages, dairy products, and processed foods, has been described; fructose malabsorption has thus been reported in up to 2.4% of healthy subjects, leading to digestive clinical symptoms (eg, pain, distension, diarrhea). Because digestive involvement is frequent in patients with systemic sclerosis (SSc), we hypothesized that fructose malabsorption could be responsible for intestinal manifestations in these patients. The aims of this prospective study were to: determine the prevalence of fructose malabsorption, in SSc; predict which SSc patients are at risk of developing fructose malabsorption; and assess the outcome of digestive symptoms in SSc patients after initiation of standardized low-fructose diet. Eighty consecutive patients with SSc underwent fructose breath test. All SSc patients also completed a questionnaire on digestive symptoms, and a global symptom score (GSS) was calculated. The prevalence of fructose malabsorption was as high as 40% in SSc patients. We also observed a marked correlation between the presence of fructose malabsorption and: higher values of GSS score of digestive symptoms (P = 0.000004); and absence of delayed gastric emptying (P = 0.007). Furthermore, in SSc patients with fructose malabsorption, the median value of GSS score of digestive symptoms was lower after initiation of standardized low-fructose diet (4 before vs. 1 after; P = 0.0009). Our study underscores that fructose malabsorption often occurs in SSc patients. Our findings are thus relevant for clinical practice, highlighting that fructose breath test is a helpful, noninvasive method by: demonstrating fructose intolerance in patients with SSc; and identifying the group of SSc patients with fructose intolerance who may benefit from low-fructose diet. Interestingly, because the present series also shows that low-fructose diet resulted in a marked decrease of gastrointestinal clinical manifestations

  5. Skin autofluorescence, as marker of accumulation of advanced glycation endproducts and of cumulative metabolic stress, is not increased in patients with systemic sclerosis

    NARCIS (Netherlands)

    Hettema, M. E.; Bootsma, H; Graaff, R; de Vries, R; Kallenberg, C G M; Smit, A J

    2011-01-01

    Objective. To investigate whether advanced glycation endproducts (AGEs) in the skin are increased in patients with systemic sclerosis (SSc) and are related to the presence of disease-related and traditional cardiovascular risk factors. Methods. Skin autofluorescence, as a measure for the

  6. Adie’s Tonic Pupil in Systemic Sclerosis: A Rare Association

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    Anusha Venkataraman

    2015-01-01

    Full Text Available We report a rare association of Adie’s tonic pupil in a patient with systemic sclerosis who was otherwise systemically stable. This paper is an effort to unravel whether the tonic pupil and systemic sclerosis are an association by chance (which may be the case or systemic sclerosis is the source of the tonic pupil.

  7. Vascular Complications of Systemic Sclerosis during Pregnancy

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    Eliza F. Chakravarty

    2010-01-01

    Full Text Available Systemic sclerosis (SSc is a chronic autoimmune disorder characterized by progressive fibrosis of the skin and visceral tissues as well as a noninflammatory vasculopathy. Vascular disease in systemic sclerosis is a major cause of morbidity and mortality among nonpregnant patients with SSc and is even a bigger concern in the pregnant SSc patient, as the underlying vasculopathy may prevent the required hemodynamic changes necessary to support a growing pregnancy. Vascular manifestations including scleroderma renal crisis and pulmonary arterial hypertension should be considered relative contraindications against pregnancy due to the high associations of both maternal and fetal morbidity and mortality. In contrast, Raynaud's phenomenon may actually improve somewhat during pregnancy. Women with SSc who are considering a pregnancy or discover they are pregnant require evaluation for the presence and extent of underlying vasculopathy. In the absence of significant visceral vasculopathy, most women with SSc can expect to have reasonable pregnancy outcomes.

  8. Patients' Perspectives and Experiences Living with Systemic Sclerosis: A Systematic Review and Thematic Synthesis of Qualitative Studies.

    Science.gov (United States)

    Nakayama, Ayano; Tunnicliffe, David J; Thakkar, Vivek; Singh-Grewal, Davinder; O'Neill, Sean; Craig, Jonathan C; Tong, Allison

    2016-07-01

    Systemic sclerosis (SSc) is a chronic, progressive autoimmune disease with major end-organ involvement. Much attention has been focused on the management of physical and clinical manifestations; however, the effect of the disease and treatment on the patient's identity, relationships, functioning, and mental well-being are less known. We aimed to describe the patients' perspectives and experiences of living with SSc. Electronic databases were searched to October 2014. Thematic synthesis was used to analyze the findings. We included 26 studies involving 463 patients. Six key themes were identified: distressing appearance transformation (disturbing facial changes, stigmatizing sickness, unrecognizable self), palpable physical limitations (bodily restrictions, frustrating mind-body disconnect, pervasive fatigue, disabling pain), social impairment (breaking intimacy, struggling to fulfill family responsibilities, maintaining work, losing independence), navigating uncertainty (diagnostic ambiguity, medically fending for oneself, unpredictable course of illness), alone and misunderstood (fearful avoidance of fellow patients, invisible suffering), and gradual acceptance and relative optimism (adapting to change and accepting limitations, taking a positive spin, cautious hoping, empowering relationships, valuing medical support). SSc is a rare and unpredictable illness that undermines patients' sense of certainty and control and impairs their self-image, identity, and daily functioning. Patient-centered care that encompasses strategies to promote self-esteem, resilience, and self-efficacy may help to improve treatment satisfaction and health and quality of life outcomes for patients with SSc.

  9. Bone mineral density, bone turnover markers and fractures in patients with systemic sclerosis: a case control study.

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    Marco Atteritano

    Full Text Available OBJECTIVE: The aim of our study was to elucidate the pathophysiology of systemic sclerosis-related osteoporosis and the prevalence of vertebral fragility fracture in postmenopausal women with systemic sclerosis (SSc. METHODOLOGY: Fifty-four postmenopausal women with scleroderma and 54 postmenopausal controls matched for age, BMI, and smoking habits were studied. BMD was measured by dual energy-x-ray absorptiometry at spine and femur, and by ultrasonography at calcaneus The markers of bone turnover included serum osteocalcin and urinary deoxypyridinoline. All subjects had a spine X-ray to ascertain the presence of vertebral fractures. RESULTS: bone mineral density at lumbar spine (BMD 0.78±0.08 vs 0.88±0.07; p<0,001, femoral neck (BMD: 0.56±0.04 vs 0.72±0.07; p<0,001 and total femur (BMD: 0.57±0.04 vs 0.71±0.06; p<0,001 and ultrasound parameter at calcaneus (SI: 80.10±5.10 vs 94.80±6.10 p<0,001 were significantly lower in scleroderma compared with controls; bone turnover markers and parathyroid hormone level were significantly higher in scleroderma compared with controls, while serum of 25(OHD3 was significantly lower. In scleroderma group the serum levels of 25(OHD3 significantly correlated with PTH levels, BMD, stiffness index and bone turnover markers. One or more moderate or severe vertebral fractures were found in 13 patients with scleroderma, wherease in control group only one patient had a mild vertebral fracture. CONCLUSION: Our data shows, for the first time, that vertebral fractures are frequent in subjects with scleroderma, and suggest that lower levels of 25(OHD3 may play a role in the risk of osteoporosis and vertebral fractures.

  10. Diminished production of TWEAK by the peripheral blood mononuclear cells is associated with vascular involvement in patients with systemic sclerosis.

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    Otylia Kowal-Bielecka

    2010-02-01

    Full Text Available Widespread vasculopathy and profound fibrosis are key features of the pathogenesis of systemic sclerosis (SSc. We hypothesized that the TNF-like weak inducer of apoptosis (TWEAK, a recently recognized multifunctional cytokine which regulates angiogenesis and tissue remodeling, may play a role in the development of SSc. The production of TWEAK by the peripheral blood mononuclear cells (PBMC was investigated, by means of ELISA, in 24 SSc patients and 14 healthy subjects. Moreover, production of TWEAK was correlated with clinical features of SSc. PBMC were isolated using density gradient centrifugation on Histopaque and were cultured in FCS supplemented RPMI medium at 37 degrees C under 5% CO2. Production of TWEAK by PBMC was significantly diminished in patients with more severe microvascular damage, as indicated by the presence of "active" capillaroscopic pattern, compared with SSc patients with less pronounced microangiopathy ("slow" pattern, and healthy subjects. Moreover production of TWEAK correlated inversely with duration of Raynaud's phenomenon. PBMC from patients with scleroderma-related interstitial lung disease tended to produce lower amounts of TWEAK compared with SSc patients without lung involvement but the difference was not significant. The results of our study suggest that diminished production of TWEAK might play a role in the pathogenesis of vascular injury in SSc patients. Whether TWEAK may represent a new therapeutic target in SSc requires further studies.

  11. Cardiointervalography in patients with multiple sclerosis

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    A. R. Rakhmatullin

    2016-01-01

    Full Text Available Cardiovascular autonomic symptoms significantly impart quality of life in patients with multiple sclerosis (MR and, in some cases, pose a threat to their life.Objective: to study cardiovascular autonomic dysfunction by cardiointervalography in MS patients.Patients and methods. Cardiovascular tests (CVT were carried out in 47 patients with MS (a study group and in 22 healthy individuals (a control group.Results. Comparative analysis revealed a significant reduction in the values of basic CVTs (Cresp, C30:15, and CVals in MS patients (p<0.05. The isometric contraction test showed a statistically significant decrease in diastolic blood pressure; a severe lesion of the segmental area of the autonomic nervous system was detected in 45% of cases.Conclusion. A significant decrease in vagal and sympathetic activities was recorded in patients with MS.

  12. Pulmonary magnetic resonance imaging is similar to chest tomography in detecting inflammation in patients with systemic sclerosis

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    Carolina de Souza Müller

    Full Text Available Abstract Interstitial lung disease (ILD and pulmonary arterial hypertension (PAH are prevalent complications of systemic sclerosis (SSc and are currently the leading causes of death related to the disease. The accurate recognition of these conditions is therefore of utmost importance for patient management. A study was carried out with 24 SSc patients being followed at the Rheumatology Department of the Hospital de Clínicas of Universidade Federal do Paraná (UFPR and 14 healthy volunteers, with the objective of evaluating the usefulness of lung magnetic resonance imaging (MRI when assessing ILD in SS patients. The results obtained with lung MRI were compared to those obtained by computed tomography (CT of the chest, currently considered the examination of choice when investigating ILD in SS patients. The assessed population was predominantly composed of women with a mean age of 50 years, limited cutaneous SS, and a disease duration of approximately 7 years. In most cases, there was agreement between the findings on chest CT and lung MRI. Considering it is a radiation-free examination and capable of accurately identifying areas of lung tissue inflammatory involvement, lung MRI showed to be a useful examination, and further studies are needed to assess whether there is an advantage in using lung MRI instead of chest CT when assessing ILD activity in SS patients.

  13. Expressions of p53 and PUMA in fibroblasts of systemic sclerosis patients are normal at transcription level.

    Science.gov (United States)

    Mahmoudi, Mohammad Bagher; Abed Khojasteh, Majid; Alsahebfosoul, Fereshteh; Gharibdoost, Farhad; Mostafaei, Shayan; Ganjalikhani-Hakemi, Mazdak; Mahmoudi, Mahdi

    2017-09-14

    Systemic sclerosis (SSc) fibroblasts show resistance apoptosis mechanisms, which enhances the fibrosis stage of the disease. Impaired function of p53 upregulated modulator of apoptosis (PUMA) has been related to deficits in p53-dependant apoptosis pathway. This study aimed to evaluate the transcriptional levels of p53 and PUMA mRNAs in fibroblasts from SSc patients and compare it with healthy individuals. In this case-control study, skin biopsy samples were obtained from 19 patients with diffuse cutaneous SSc (DcSSc) and 16 healthy controls. Afterward, dermal fibroblasts were isolated and cultured. After extraction of total RNA from cultured fibroblasts, complementary DNA (cDNA) was synthesized. mRNA quantification was carried out using real-time PCR, SYBR Green PCR master mix, and specific primers for p53 and PUMA. No significant alteration was observed in mRNA expression levels of p53 and PUMA (P = .99 and .23, respectively) in fibroblasts from SSc patients compared with controls. Apoptosis pathways are impaired in fibroblasts from patients with SSc, leading to chronic fibrosis. Nonetheless, PUMA/p53 pathway may not be involved in dysfunction of apoptosis mechanisms in fibroblasts of patients with SSc. © 2017 Wiley Periodicals, Inc.

  14. Serum total antioxidant capacity in patients with multiple sclerosis

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    Almira Hadžović-Džuvo

    2011-02-01

    Full Text Available Multiple sclerosis (MS is a chronic inflammatory disease of the central nervous system (CNS. It is characterized by loss of myelin, the fatty tissue that surrounds and protects nerve fibres allowing them to conduct electrical impulses. Recent data indicate that oxidative stress (OS plays a major role in the pathogenesis of multiple sclerosis (MS. The aim of this study was to estimate level of serum total antioxidative capacity in patients with multiple sclerosis. Our cross-sectional study included 33 patients with MS and 24 age and sex matched control subjects. All our patients had a Poser criteria for definite diagnostic categories of multiple sclerosis. Serum total antioxidant capacity (TAC was measured by quantitative colorimetric determination, using Total antioxidant Capacity-QuantiCromAntioxidant Assay Kit (BioAssay systems, USA; DTAC-100. Mean serum TAC in multiple sclerosis group of patients was 119.2 mM Trolox equivalents and was significantly lower (p<0.001 compared to the control group of subjects (167.1 mM Trolox equivalents. Our results showed that oxidative stress plays an important role in pathogenesis of multiple sclerosis. This finding, also, suggests the importance of antioxidants in diet and therapy of MS patients.

  15. Clinical, autoimmune, and psychiatric parameters correlate with sleep disturbance in patients with systemic sclerosis and rheumatoid arthritis.

    Science.gov (United States)

    Bagnato, Gian Luca; Fiorenza, Alessia; Cordova, Francesca; Roberts, William Neal; Moore, Charles; Greco, Domenica; Monaco, Claudia; Muscatello, Maria Rosaria Anna; Bruno, Antonio; Zoccali, Rocco; Bagnato, Gianfilippo

    2016-01-01

    Sleep disturbance is an important contributor to poor quality of life in rheumatic disorders. This study aims to test whether clinical, autoimmune and psychological factors are associated with sleep disturbance in systemic sclerosis (SSc) compared to rheumatoid arthritis (RA) patients and controls. 101 female subjects (SSc=33, RA=34, healthy controls=34) participated in this observational, cross-sectional, parallel group study. Sleep disturbance was assessed with the Pittsburgh Sleep Quality Index (PSQI). Other assessments included the visual analogue scale (VAS) for pain, 36-item Short-Form Health Survey (SF-36), Beck Depression Inventory (BDI) and the State-Trait Anxiety Inventory (STAI). Clinical parameters, therapeutic regimen, and serologic status were recorded. In SSc patients, PSQI scores were higher than in RA patients and controls. Linear regression analysis showed that in SSc patients PSQI scores was associated with BDI, disease duration, modified Rodnan skin score and VAS, while DAS28 and BDI were associated with PSQI scores in RA patients. Anti-Scl70 and ANA positive SSc patients showed higher PSQI scores compared to those ANA positive only, while no differences were observed in RA patients classified according to rheumatoid factor positivity. SSc patients treated with immunosuppressants had lower PSQI scores compared to those not on therapy, whereas only corticosteroid treatment was significantly associated with higher PSQI scores in RA patients. RA patients with disease activity higher than moderate (DAS28≥3.2) had higher PSQI scores than those with lower than moderate (DAS28<3.2). Longitudinal studies are needed to identify disease-specific patterns associated with sleep disturbances and the influence on sleep function induced by immunosuppressive therapy among rheumatic patients.

  16. Targeted Therapy in Systemic Sclerosis

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    Murray Baron

    2016-10-01

    Full Text Available Targeted therapies use an understanding of the pathophysiology of a disease in an individual patient. Although targeted therapy for systemic sclerosis (SSc, scleroderma has not yet reached the level of patient-specific treatments, recent developments in the understanding of the global pathophysiology of the disease have led to new treatments based on the cells and pathways that have been shown to be involved in the disease pathogenesis. The presence of a B cell signature in skin biopsies has led to the trial of rituximab, an anti-CD20 antibody, in SSc. The well-known properties of transforming growth factor (TGF-β in promoting collagen synthesis and secretion has led to a small trial of fresolimumab, a human IgG4 monoclonal antibody capable of neutralizing TGF-β. Evidence supporting important roles for interleukin-6 in the pathogenesis of SSc have led to a large trial of tocilizumab in SSc. Soluble guanylate cyclase (sGC is an enzyme that catalyzes the production of cyclic guanosine monophosphate (cGMP upon binding of nitric oxide (NO to the sGC molecule. Processes such as cell growth and proliferation are regulated by cGMP. Evidence that sGC may play a role in SSc has led to a trial of riociguat, a molecule that sensitizes sGC to endogenous NO. Tyrosine kinases (TKs are involved in a wide variety of physiologic and pathological processes including vascular remodeling and fibrogenesis such as occurs in SSc. This has led to a trial of nintedanib, a next-generation tyrosine-kinase (TK inhibitor which targets multiple TKs, in SSc.

  17. A multi-national qualitative research study exploring the patient experience of Raynaud's phenomenon in systemic sclerosis.

    Science.gov (United States)

    Pauling, John D; Domsic, Robyn T; Saketkoo, Lesley A; Almeida, Celia; Withey, Jane; Jay, Hilary; Frech, Tracy M; Ingegnoli, Francesca; Dures, Emma; Robson, Joanna; McHugh, Neil J; Herrick, Ariane L; Matucci-Cerinic, Marco; Khanna, Dinesh; Hewlett, Sarah

    2017-11-21

    Raynaud's phenomenon (RP) is the commonest manifestation of systemic sclerosis (SSc). RP is an episodic phenomenon, not easily assessed in the clinic, leading to reliance on self-report. A thorough understanding of the patient experience of SSc-RP is essential to ensuring patient-reported outcome (PRO) instruments capture domains important to the target patient population. We report the findings of an international qualitative research study investigating the patient experience of SSc-RP. Focus groups (FGs) of SSc patients were conducted across 3 scleroderma centers in the US and UK, using a topic guide and a priori purposive sampling framework devised by qualitative researchers, SSc patients and SSc experts. FGs were audio recorded, transcribed, anonymised and analysed using inductive thematic analysis. FGs were conducted until thematic saturation was achieved. Forty SSc patients participated in 6 focus groups conducted in Bath (UK), New Orleans (US) and Pittsburgh (US). Seven major themes were identified that encapsulate the patient experience of SSc-RP: physical symptoms, emotional impact, triggers & exacerbating factors, constant vigilance & self-management, impact on daily life, uncertainty and adaptation. The inter-relationship of the 7 constituent themes can be arranged within a conceptual map of SSc-RP. We have explored the patient experience of SSc-RP in a diverse and representative SSc cohort and identified a complex interplay of experiences that result in significant impact. Work to develop a novel PRO instrument for assessing the severity and impact of SSc-RP, comprising domains/items grounded in the patient experiences of SSc-RP identified in this study is underway. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  18. Oroal manifestations in patients with multiple sclerosis

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    Grajales González Hilda María

    2014-07-01

    Full Text Available Multiple sclerosis is a chronic autoimmune inflammatory disease of the central nervous system, characterized by the presence of acute focal inflammatory demyelination, axonal loss and gliosis. It affects predominantly in young adults between 20 and 40 years of age; it is infrequent in the pediatric age. A observational, retrospective and descriptive cohort research was conducted between May 1999 and January 2012 to assess demographic characteristics, and pathological manifestations in the oral cav- ity of children with this condition. Records of 17 patients, under 18 years of age, of either sex were included, who had been evaluated in the Department of Stomatology. Data recorded were age, sex, State of origin, oral and facial pathological features, focal cavity infections and ceod index. There were no patients with trigeminal neuralgia or facial paralysis; a 5.7% ceod index was identified. Most of the patients were under immunopressive treatment. A protocol for stomatological follow-up in patients with multiple sclerosis does not exist. The medical profession must be sensibilized to establish strategies for an integral follow-up in patients with this condition.

  19. Effectiveness and safety of oxycodone/naloxone in the management of chronic pain in patients with systemic sclerosis with recurrent digital ulcers: two case reports

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    Ughi N

    2016-03-01

    Full Text Available Nicola Ughi, Chiara Crotti, Francesca Ingegnoli Division of Rheumatology, Department of Clinical Sciences and Community Health, Gaetano Pini Institute, The University of Milan, Milan, Italy Abstract: Digital ulcers (DUs are a severe and frequent clinical feature of patients with systemic sclerosis (SSc. The presence of DUs may cause severe pain and often lead to impairment of patient’s functional activities and health-related quality of life. Moreover, poor patient cooperation during the wound care procedure due to pain may be associated with a negative outcome of DU healing. Therefore, pain management has a key role in patients with SSc. These two case reports describe the effectiveness and safety of oxycodone/naloxone in patients with SSc complicated by painful chronic DUs. Such a therapy has provided pain relief and consequently an increased compliance during redressing wounds. Keywords: oxycodone, naloxone, systemic sclerosis, pain, digital ulcer, scleroderma, analgaesia, wound healing, opioids, calcinosis, UCLA-SCTC GIT 2.0

  20. Intrinsic functional plasticity of the thalamocortical system in minimally disabled patients with relapsing-remitting multiple sclerosis

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    Fuqing eZhou

    2016-01-01

    Full Text Available The thalamus plays a crucial role in sensorimotor, cognitive and attentional circuit functions. Disruptions in thalamic connectivity are believed to underlie the symptoms of multiple sclerosis (MS. Therefore, assessing thalamocortical structural connectivity (SC and functional connectivity (FC may provide new insights into the mechanism of intrinsic functional plasticity in a large-scale neural network. We used resting-state FC measurement and diffusion tensor imaging probabilistic tractography to study the functional and structural integrity of the thalamocortical system in patients with relapsing-remitting MS (RRMS and matched healthy controls. In the thalamocortical connections of RRMS patients, we found lesion load-related regional FC in the right temporal pole, which reflected compensatory hyperconnectivity related to lesion-related demyelination. We also found significant correlations between increased diffusivity and slowed cognitive processing (PASAT or the impact of fatigue (MFIS-5, as well as between connective fiber loss and disease duration. Taken together, the evidence from SC and FC analysis of the thalamocortical system suggests that minimally disabled RRMS patients exhibit a dissociated SC-FC pattern and limited regional functional plasticity to compensate for the chronic demyelination-related loss of long-distance SC. These results also provide further evidence supporting the notion that MS is a disorder of anatomical disconnection.

  1. Efficacy of bosentan in the treatment of Raynaud's phenomenon in patients with systemic sclerosis never treated with prostanoids.

    Science.gov (United States)

    Parisi, S; Bruzzone, M; Centanaro Di Vittorio, C; Laganà, A; Peroni, C L; Fusaro, E

    2014-03-17

    The objective of this study was to evaluate the efficacy of the endothelin receptor antagonist, bosentan, in patients with Raynaud's phenomenon secondary to systemic sclerosis never treated with prostanoids and without digital ulcers. The study design is a preliminary, prospective open label trial. The patients recruited took one 62.5 mg dose of bosentan twice daily for 4 weeks, followed by 125 mg twice daily for 24 weeks. Of the 10 patients recruited, all completed the study. The reduction in Raynaud's phenomenon attacks at week 24 from the baseline was statistically significant (Δ-1.3, P=0.0126). The Raynaud's condition score showed a statistically significant improvement (Δ-1.4, P=0.0279), as did the visual analog pain scale (Δ-1.5, P=0.0016) at the 24th week. Bosentan appears to be effective and may be a valid alternative for the treatment of severe secondary Raynaud's phenomenon for patients where prostanoids therapy is contraindicated or refused.

  2. Comprehensive immune profiling reveals substantial immune system alterations in a subset of patients with amyotrophic lateral sclerosis.

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    Michael P Gustafson

    Full Text Available Amyotrophic lateral sclerosis (ALS is a fatal neurodegenerative disease with a median lifespan of 2-3 years after diagnosis. There are few meaningful treatments that alter progression in this disease. Preclinical and clinical studies have demonstrated that neuroinflammation may play a key role in the progression rate of ALS. Despite this, there are no validated biomarkers of neuroinflammation for use in clinical practice or clinical trials. Biomarkers of neuroinflammation could improve patient management, provide new therapeutic targets, and possibly help stratify clinical trial selection and monitoring. However, attempts to identify a singular cause of neuroinflammation have not been successful. Here, we performed multi-parameter flow cytometry to comprehensively assess 116 leukocyte populations and phenotypes from lymphocytes, monocytes, and granulocytes in a cohort of 80 ALS patients. We identified 32 leukocyte phenotypes that were altered in ALS patients compared to age and gender matched healthy volunteers (HV that included phenotypes of both inflammation and immune suppression. Unsupervised hierarchical clustering and principle component analysis of ALS and HV immunophenotypes revealed two distinct immune profiles of ALS patients. ALS patients were clustered into a profile distinct from HVs primarily due to differences in a multiple T cell phenotypes, CD3+CD56+ T cells and HLA-DR on monocytes. Patients clustered into an abnormal immune profile were younger, more likely to have a familial form of the disease, and survived longer than those patients who clustered similarly with healthy volunteers (344 weeks versus 184 weeks; p = 0.012. The data set generated from this study establishes an extensive accounting of immunophenotypic changes readily suitable for biomarker validation studies. The extensive immune system changes measured in this study indicate that normal immune homeostatic mechanisms are disrupted in ALS patients, and that

  3. Clinical and diagnostic significance of activity of enzymes participating in endoergic reactions of patients systemic lupus erythematosus and systemic sclerosis

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    LA Zborovskaya

    2004-01-01

    Full Text Available Objective. To improve quality of diagnosis of systemic lupus erythematosus (SLE and systemic sclerosis (SS. Material and methods. 30 pts with SLE and 30 with SS were included. Besides complex clinical, instrumental and laboratory examination activity and isoenzymes of succinate dehydrogenase (SDG, fumarate hydrase (FH, malate dehydrogenase (MDG, cytochrome oxidase (CO were evaluated trice (at admission, after two weeks and at discharge with original methods. 30 healthy persons were included in the control group. Results. SLE and SS pts had significant changes of energy metabolism enzymes depended on clinical features of the disease. Enzyme indices at minimal activity of SLE and SS were more informative than most of traditional laboratory tests. Comparative analysis of enzyme indices in SLE and SS pts revealed some features with along with clinical, instrumental and traditional laboratory data should be consider in diagnosis of these diseases. Enzyme indices correlated with changes of pts clinical state what allow to use them as criteria of treatment efficacy.

  4. Longitudinal patterns of pain in patients with diffuse and limited systemic sclerosis: integrating medical, psychological, and social characteristics.

    Science.gov (United States)

    Merz, Erin L; Malcarne, Vanessa L; Roesch, Scott C; Nair, Deepthi K; Salazar, Gloria; Assassi, Shervin; Mayes, Maureen D

    2017-01-01

    Pain is a common but understudied quality of life concern in systemic sclerosis (SSc). This investigation sought to describe patient-reported pain during the early phase of the disease and to examine potential predictors of this over time. A prospective cohort (N = 316) of patients with early-disease SSc from the Genetics versus ENvironment In Scleroderma Outcome Study (GENISOS) were followed for 3 years. Multilevel modeling was used to describe longitudinal changes in pain and the extent to which pain variance was explained by disease type, emotional health, perceived physical health, health worry, and social support. Patient-reported pain remained relatively stable, with slight improvement over time. More severe disease type was associated with worse initial pain, but the association was reduced to nonsignificance after accounting for the psychosocial variables. Better emotional health and perceived physical health were associated with lower initial pain. There were marginal interactive effects for perceived physical health and social support such that initial perceptions of poorer physical health, and higher social support, were predictive of greater improvements in pain over time. These data suggest that emotional health, perceived physical health, and social support are more relevant to longitudinal SSc pain than disease severity and that perceived physical health and social support may impact pain trajectories. Researchers and rheumatology health professionals should consider these factors in comprehensive pain models and pain management protocols.

  5. Beneficial effect of botulinum toxin A on Raynaud's phenomenon in Japanese patients with systemic sclerosis: A prospective, case series study.

    Science.gov (United States)

    Motegi, Sei-ichiro; Yamada, Kazuya; Toki, Sayaka; Uchiyama, Akihiko; Kubota, Yuka; Nakamura, Tetsuya; Ishikawa, Osamu

    2016-01-01

    Currently, there is no satisfactory treatment for Raynaud's phenomenon (RP) in systemic sclerosis (SSc). Recently, it has been reported that botulinum toxin A (BTX-A) injection was effective for the treatment of RP in SSc patients. The objective was to assess the efficacy and safety of BTX-A on RP in Japanese SSc patients. In the prospective, case series study, 10 Japanese SSc patients with RP received 10 U of BTX-A injections into the hand. The change in severity of RP, including the frequency of attacks/pain, color changes, duration time of RP and the severity of pain, was assessed by Raynaud's score and pain visual analog scale (VAS) at each visit during 16 weeks. The recovery of skin temperature 20 min after cold water stimulation was examined by thermography at baseline and 4 weeks after injection. The number of digital ulcers (DU) and adverse effects were assessed at each visit. BTX-A injection decreased Raynaud's score and pain VAS from 2 weeks after injection, and the suppressive effect was continued until 16 weeks after injection. Skin temperature recovery after cold water stimulation at 4 weeks after injection was significantly enhanced compared with that before injection. All DU in five patients were healed within 12 weeks after injection. Neither systemic nor local adverse effects were observed in all cases. We conclude that BTX-A injection significantly improved the activity of RP in SSc patients without any adverse events, suggesting that BTX-A may have possible long-term preventive and therapeutic potentials for RP in Japanese SSc patients. © 2015 Japanese Dermatological Association.

  6. "It's Not Me, It's Not Really Me." Insights From Patients on Living With Systemic Sclerosis: An Interview Study.

    Science.gov (United States)

    Sumpton, Daniel; Thakkar, Vivek; O'Neill, Sean; Singh-Grewal, Davinder; Craig, Jonathan C; Tong, Allison

    2017-11-01

    Patients with systemic sclerosis (SSc) experience severe physical limitations and psychological morbidity, but their lived experience remains underrepresented and is reflected in the scarcity of evidence-based patient-centered interventions. We aimed to describe patients' perspectives of SSc to inform strategies to improve their care. Face-to-face semistructured interviews were conducted with 30 adult patients with limited cutaneous or diffuse cutaneous SSc in Australia. Transcripts were thematically analyzed using HyperRESEARCH software. Six themes were identified: bodily malfunction (restrictive pain, debilitating physical changes, pervasive exhaustion), deprivation of social function (loss of work and career, social isolation, threat to traditional roles, loss of intimacy), disintegration of identity (stigmatizing physical changes, disassociated self-image, extinguished hopes, alone and powerless, invisibility of illness), insecurity of care (unrecognized disease, ambiguity around diagnosis and cause, information insufficiency, resigning to treatment limitations, seeking reassurance, fear of progression), avoiding the sick role (evading thoughts of sickness, protecting family, favorable comparison), and perseverance and hope (positive stoicism, optimism about treatment and monitoring, taking control of own health, pursuing alternative treatments, transcending illness through support). SSc inflicts major bodily and social restrictions that crush patients' identity and self-image. Uncertainties about the cause, diagnosis, and prognosis can undermine confidence in care, leading to anxiety and therapeutic nihilism. Access to psychosocial care to support the patients' role and functioning capacity, as well as communication and education that explicitly address their concerns regarding management may potentially improve treatment satisfaction, self-efficacy, adherence, and outcomes in patients with SSc. © 2017, American College of Rheumatology.

  7. A Novel Prothrombotic Pathway in Systemic Sclerosis Patients: Possible Role of Bisphosphonate-Activated γδ T Cells.

    Science.gov (United States)

    Marcu-Malina, Victoria; Balbir-Gurman, Alexandra; Dardik, Rima; Braun-Moscovici, Yolanda; Segel, Michael J; Bank, Ilan

    2014-01-01

    Infusions of aminobisphonates (ABP) activate Vγ9δ2T cells in vivo and induce an acute inflammatory response in 30% of patients treated for osteoporosis. Following the observation of digital thrombosis in a systemic sclerosis (SSc) patient after treatment with an intravenous ABP, zoledronate (Zol), we evaluated whether patient and control peripheral blood (PB) mononuclear cell (MC, PBMC) acquire a prothrombotic phenotype in response to Zol. Vγ9δ2T cells of both patients and healthy donors (HD) upregulated the CD69 activation antigen and secreted tumor necrosis factor (TNF)α in response to Zol in vitro. In addition, exposure to either Zol or lipopolysaccharide (LPS), or to both additively, induced expression of the highly procoagulant, tissue factor (TF)-1 on CD14+ monocytes. Importantly, only Zol-induced TF-1 was blocked by a monoclonal antibody to TNFα. Interestingly, we found that SSc, but not HD, Vδ1+ T cells were concurrently activated by Zol to produce interleukin (IL)-4. Addition of plasma from the blood of the SSc patient who developed critical digital ischemia after infusion of Zol, but neither plasma from a second patient with no adverse clinical response to Zol infusion nor of a HD, strongly enhanced Zol-induced monocyte TF-1, which could still be blocked by anti-TNFα. Aminobisphonates induced secretion of TNFα by Vγ9δ2+ T cells may lead to TNFα-dependent induction of procoagulant TF-1 induction on monocytes. In certain clinical settings, e.g., SSc, TF-1+ monocytes could play a role in triggering clinically relevant thrombosis.

  8. Gastric antral vascular ectasia and its clinical correlates in patients with early diffuse systemic sclerosis in the SCOT trial.

    Science.gov (United States)

    Hung, Emily W; Mayes, Maureen D; Sharif, Roozbeh; Assassi, Shervin; Machicao, Victor I; Hosing, Chitra; St Clair, E William; Furst, Daniel E; Khanna, Dinesh; Forman, Stephen; Mineishi, Shin; Phillips, Kristine; Seibold, James R; Bredeson, Christopher; Csuka, Mary Ellen; Nash, Richard A; Wener, Mark H; Simms, Robert; Ballen, Karen; Leclercq, Sharon; Storek, Jan; Goldmuntz, Ellen; Welch, Beverly; Keyes-Elstein, Lynette; Castina, Sharon; Crofford, Leslie J; Mcsweeney, Peter; Sullivan, Keith M

    2013-04-01

    To describe the prevalence and clinical correlates of endoscopic gastric antral vascular ectasia (GAVE; "watermelon stomach") in early diffuse systemic sclerosis (SSc). Subjects with early, diffuse SSc and evidence of specific internal organ involvement were considered for the Scleroderma: Cyclophosphamide Or Transplant (SCOT) trial. In the screening procedures, all patients underwent upper gastrointestinal endoscopy. Patients were then categorized into those with or without endoscopic evidence of GAVE. Demographic data, clinical disease characteristics, and autoantibody data were compared using Pearson chi-square or Student t tests. Twenty-three of 103 (22.3%) individuals were found to have GAVE on endoscopy. Although not statistically significant, anti-topoisomerase I (anti-Scl70) was detected less frequently among those with GAVE (18.8% vs 44.7%; p = 0.071). Similarly, anti-RNP antibodies (anti-U1 RNP) showed a trend to a negative association with GAVE (0 vs 18.4%; p = 0.066). There was no association between anti-RNA polymerase III and GAVE. Patients with GAVE had significantly more erythema or vascular ectasias in other parts of the stomach (26.1% vs 5.0%; p = 0.003). Endoscopic GAVE was present on screening in almost one-fourth of these highly selected patients with early and severe diffuse SSc. While anti-Scl70 and anti-U1 RNP trended toward a negative association with GAVE, there was no correlation between anti-RNA Pol III and GAVE. Patients with GAVE had a higher frequency of other gastric vascular ectasias outside the antrum, suggesting that GAVE may represent part of the spectrum of the vasculopathy in SSc.

  9. Lower limb muscle strength is associated with functional performance and quality of life in patients with systemic sclerosis

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    Tatiana R. L. Lima

    2015-04-01

    Full Text Available Background: Complaints of peripheral muscle weakness are quite common in patients with systemic sclerosis (SSc. It is likely that the muscle impairments may reduce the patients' exercise performance, which in turn may decrease their functional capacity and exert a direct impact on their quality of life. Objectives: To assess the peripheral and respiratory muscle strength in individuals with SSc and to investigate their correlation with the 6-min walk distance (6MWD and quality of life measurements. Moreover, we aimed to characterize their nutritional status, pulmonary function, functional capacity, and quality of life compared to the controls. Method: The present cross-sectional study included 20 patients with SSc and 20 control subjects. All of the participants were subjected to isometric dynamometry, surface electromyography, bioelectrical impedance analysis, pulmonary function testing, and the 6-min walk test. Patients with SSc also responded to the Medical Outcomes Study 36-Item Short-Form Health Survey (SF-36 and the Health Assessment Questionnaire Disability Index (HAQ-DI. Results: The individuals with SSc exhibited a reduction in quadriceps strength (p=0.0001, increased quadriceps fatigability (p=0.034, impaired pulmonary function, and a reduced 6MWD (p=0.0001 compared to the controls. Quadriceps strength was significantly correlated with the 6MWD (Rho=0.719; p=0.0004 and the HAQ-DI (Rho=-0.622; p=0.003. We also found significant correlations between quadriceps fatigability and maximal inspiratory (Rho=0.684; p=0.0009 and maximal expiratory (Rho=0.472; p=0.035 pressure. Conclusions: Patients with SSc exhibited reduced respiratory muscle and quadriceps strength and an increase in its fatigability. In these individuals, there was a relationship between quadriceps strength, functional capacity, and quality of life.

  10. A comparision of Brain-Behavioral Systems in patients with multiple sclerosis and normal individuals

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    kobra Moradi

    2016-05-01

    Full Text Available Background: The aim of this study was to compare   Brain-Behavioral Systems in patient with multiple sclerocis (MS and normal individuals. Materials and Methods: This research was a post facto comparative study, subjects included  healthy persons and all patients with MS, which in summer and autumn 2013 referred to neurologists in the Lorestan province. Of the population using as samples, 117 cases (75 patients and 42 normal subjects were selected, then Gray- Wilson Personality Questionnaire was completed for them. To analyze the data, multivariate analysis of variance (MANOVA test  was used to compare the two groups. Results: The results showed, in BAS scales, people with MS had significantly lower scores than normal subjects Conclusion: What comes from findings indicates that a low score in behavioral activation as a pathological factors in chronic diseases such as MS is concerned and is in need of psychological treatment.

  11. Behavioral Changes in Patients with Multiple Sclerosis

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    Mirjam R. Heldner

    2017-08-01

    Full Text Available BackgroundBehavioral changes are common in patients with multiple sclerosis (MS, however not as readily recognized as cognitive impairments.ObjectiveThe aim of this study was to analyze behavioral changes and its relation to disease characteristics, disability, and cognitive impairments in patients with MS.MethodThis is a single-center cross-sectional study. A detailed neuropsychological examination, including the Frontal Systems Behavior Scale (FrSBe, the Beck depression inventory (BDI, and the Wuerzburg Fatigue Inventory for Multiple Sclerosis (WEIMuS test, was performed. FrSBe results were correlated with disease characteristics, disability, and cognitive assessments.Results66 patients were enrolled (mean age: 43.4 years; disease duration: 9.3 years; Expanded Disability Status Scale: 3.0. Up to one third of patients showed behavioral changes in at least one domain or the total score of the FrSBe. Patients were mildly affected with regard to cognitive functioning. Consistent correlation was found between behavioral changes and fatigue (WEIMuS and depressive symptoms (BDI, but not with disease characteristics, disability, or cognitive functions. There was an increase of behavioral changes on all FrSBe scales in the current status compared to the retrospectively rated status before disease onset. Self- and family ratings with regard to current behavioral changes were similar.ConclusionBehavioral changes are common in otherwise mildly affected MS patients with up to one third being affected. In this patient cohort, behavioral changes occur largely independent of disease characteristics, physical disability, and cognitive functioning but correlate with both fatigue and depressive symptoms. Therefore, they should be tested specifically.

  12. The high frequency of spontaneous micronuclei observed in lymphocytes of systemic sclerosis patients: preliminary results

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    L. Migliore

    2011-09-01

    Full Text Available Objective: aim of the study is to assess the presence of spontaneous chromosome damage in patients affected by limited (lSSc or diffuse (dSSc Systemic Slerosis, using the micronucleus (MN assay. Methods: we evaluated MN frequency in cultured peripheral lymphocytes of 18 SSc and in a group of 20 healthy controls. Patients were also classified as ACA+, Scl70+, FAN+ according to the presence of the specific anti-nuclear antibodies. We also explored the hypothesis that the extent of cytogenetic alteration might be related to the severity of the pathological condition and/or to the immunological profile. Results: compared to controls, the patient group as a whole showed significantly higher MN frequencies (10.8±4.5 vs. 27.8±13.7, p<0.001. No correlation was found between spontaneous chromosome damage and severity of the disease, being MN frequency 33.1±17.0 and 19.8±2.7 in lSSc and dSSc, respectively. Interestingly, ACA+ subjects displayed the highest MN frequency (36.9±15.0, as compared to patients with different antibody pattern (Scl70+, FAN+; 19.7±8.2. Conclusions: our results confirm the presence of chromosomal damage in circulating lymphocytes of SSc patients and would suggest a key role of antibodies to the centromere in determining the observed cytogenetic anomalies.

  13. Myeloproliferative neoplasms in five multiple sclerosis patients

    DEFF Research Database (Denmark)

    Thorsteinsdottir, Sigrun; Bjerrum, Ole Weis

    2013-01-01

    The concurrence of myeloproliferative neoplasms (MPNs) and multiple sclerosis (MS) is unusual. We report five patients from a localized geographic area in Denmark with both MS and MPN; all the patients were diagnosed with MPNs in the years 2007-2012. We describe the patients' history and treatment...

  14. Evidence of cell-mediated cardiac myocyte injury involved in the heart failure of a patient with progressive systemic sclerosis.

    Science.gov (United States)

    Takahashi, N; Seko, Y; Azuma, M; Yagita, H; Okumura, K; Yazaki, Y

    1999-01-01

    A 54-year-old woman with progressive systemic sclerosis (PSS) was admitted to hospital because of dyspnea and chest pain. Echocardiogram revealed diffuse hypokinesis of the left ventricle (ejection fraction 24%). Methylprednisolone, heparin, and diuretics were administered, without benefit. Anemia, thrombocytopenia, and renal dysfunction rapidly progressed, and she died of heart failure on the 14th hospital day. Immunohistochemical study of the myocardial tissue showed mild to moderate cell infiltration, mainly consisting of natural killer (NK) cells, macrophages, cytotoxic T lymphocytes (CTLs), and T helper cells. Perforin, a cytolytic factor, was expressed in the infiltrating CTLs and NK cells, indicating that these cells were activated killer cells. Furthermore, human leukocyte antigen classes I and II, intercellular adhesion molecule-1, as well as costimulatory molecules B7-1, B7-2, and CD40, all of which are known not to be expressed in cardiac myocytes under normal conditions, were moderately to strongly expressed in cardiac myocytes. There was no detectable level of enterovirus genomes in the polymerase chain reaction products from the myocardial tissue of this patient. These findings strongly suggest that the infiltrating killer cells recognized cardiac myocytes as target cells and directly damaged them by releasing perforin. Enhanced expression of these antigens may have played an important role in the activation and cytotoxicity of the infiltrating killer cells. Absence of enterovirus genomes in the myocardial tissue may suggest that this autoimmune process is primarily induced by PSS.

  15. The risk of fracture in incident multiple sclerosis patients

    DEFF Research Database (Denmark)

    Bazelier, Marloes T; Bentzen, Joan; Vestergaard, Peter

    2012-01-01

    Patients with multiple sclerosis (MS) may be at increased risk of fractures owing to osteoporosis and falling.......Patients with multiple sclerosis (MS) may be at increased risk of fractures owing to osteoporosis and falling....

  16. Improvement of peripheral artery disease with Sildenafil and Bosentan combined therapy in a patient with limited cutaneous systemic sclerosis

    Science.gov (United States)

    Omarjee, Loukman; Fontaine, Cedric; Mahe, Guillaume; Jaquinandi, Vincent

    2017-01-01

    Abstract Rationale: Sildenafil, a phosphodiesterase-5-inhibitor and Bosentan, an endothelin-1-receptor antagonist combined therapy could have beneficial effect in systemic sclerosis (SSc) patients with peripheral artery disease. Patient concerns: We report a case of a 48-year-old Black woman, who developed severe left limb claudication and walking limitation following a left femoropopliteal bypass occlusion in 2014. She was a heavy smoker and had a history of right middle cerebral artery ischemic stroke and bilateral Raynaud phenomenon. Diagnoses: According to the American College of Rheumatology/European League Against Rheumatism-2013 criteria, diagnosis of limited cutaneous SSc was retained with macrovascular lesions. She was referred for investigation of left limb claudication on treadmill using transcutaneous oxygen pressure measurement during exercise to argue for the vascular origin of the walking impairment. She had a severe left limb ischemia and the maximum walking distance (MWD) she reached was 118 m in March 2015 despite the medical optimal treatment and walking rehabilitation. Interventions: Sildenafil, 20 mg tid, was introduced due to active digital ulcers. In July 2015, the MWD increased to 288 m, then to 452 m in December 2015. Adding Bosentan to Sildenafil to prevent recurrent digital ulcers resulted in an MWD of 1576 m. Outcomes: Recently, the patient is treated with the combined therapy. She has no more pain during walking and his quality of life has improved. Lessons: Sildenafil and Bosentan combined therapy was associated in our case with an improvement of MWD without adverse effect. Further clinical trials are necessary to confirm our original observation. PMID:28640077

  17. Effect of treatment with iloprost with or without bosentan on nailfold videocapillaroscopic alterations in patients with systemic sclerosis.

    Science.gov (United States)

    Cestelli, Valentina; Manfredi, Andreina; Sebastiani, Marco; Praino, Emanuela; Cannarile, Francesca; Giuggioli, Dilia; Ferri, Clodoveo

    2017-01-01

    Vascular involvement plays a decisive role in systemic sclerosis (SSc) pathogenesis; it is responsible for some important clinical manifestations of the disease such as Raynaud's phenomenon and digital ulcers (DU). Bosentan, a dual receptor endothelin antagonist, and iloprost, often in combination therapy, seems to be able to interfere with the scleroderma microangiopathy. Aim of the study was to evaluate the effect of bosentan and iloprost on scleroderma microangiopathy, analyzed by means of capillaroscopic skin ulcer risk index (CSURI), in SSc patients treated for the prevention of DU. Nailfold videocapillaroscopy (NVC) was performed in 95 SSc patients, treated with iloprost alone (group 1) or combination therapy with iloprost and bosentan (group 2), at baseline and after one year. In all patients CSURI was calculated according to the formula "diameter × number of megacapillaries/(total number of capillaries) 2 ": in addition, total number of capillaries, giant capillaries, micro-hemorrhages, disorganization of the vascular array, and ramified capillaries were evaluated by means of a semiquantitative score. After 12 months, we observed a reduction of the number of giant capillaries in both groups, while an increase of ramified capillaries was recorded only in group 2. CSURI improved slightly in group 2 without statistical significance; on the contrary, in group 1 a significant worsening was recorded (p ≤ 0.001). Our study confirms the effectiveness of bosentan, in combination with iloprost, in SSc microangiopathy observed to NVC. Moreover, the observed findings further support the role of CSURI in the evaluation and monitoring of SSc microangiopathy.

  18. Pilot study assessing pathophysiology and healing of digital ulcers in patients with systemic sclerosis using laser Doppler imaging and thermography.

    Science.gov (United States)

    Murray, Andrea K; Moore, Tonia L; Wragg, Elizabeth; Ennis, Holly; Vail, Andy; Dinsdale, Graham; Muir, Lindsay; Griffiths, Christopher E M; Herrick, Ariane L

    2016-01-01

    Systemic sclerosis (SSc)-related digital ulcers (DU) cause significant pain and disability and are often a primary endpoint in clinical trials. However, their pathophysiology has been little studied. The objectives of this prospective study were to determine whether laser Doppler imaging (LDI) and thermography can identify ischaemic components in both fingertip and extensor surface DU and assess ulcer healing. Patients prospectively reported new DU over a year. Patients' DU underwent imaging until the ulcer had healed. Ischaemia was defined as lower blood flow or skin temperature (and inflammation as higher) within the ulcer, compared to a non-affected site. 53 ulcers (19 fingertip, 18 extensor, 16 'other' sites) in 17 patients were imaged (53 with LDI, 52 with thermography). For LDI data 32 (60%) ulcers were ischaemic; median perfusion ulcer/unaffected area; 0.79 (range 0.11-2.9). For thermography data 35 (66%) were ischaemic; 0.98 (0.89 to 1.1). Inflammation in the surrounding area was identified for all ulcers by LDI but not thermography. In the 36 ulcers with repeat imaging, LDI showed trends (with healing) towards increased ulcer perfusion (p=0.23) and decreased hyperaemia in adjacent areas (p=0.59). Skin temperature at the ulcer site showed no significant change (p=0.13) but adjacent area showed decreased temperature (p=0.04 signifying decreased blood flow). LDI and thermography are sufficiently sensitive to measure ischaemia in both fingertip and extensor ulcers. LDI was better suited to monitoring change in perfusion with healing (due to higher imaging resolution, or vascular changes occurring in more superficial skin layers).

  19. Design and development of an ethnically-diverse imaging informatics-based eFolder system for multiple sclerosis patients.

    Science.gov (United States)

    Ma, Kevin C; Fernandez, James R; Amezcua, Lilyana; Lerner, Alex; Shiroishi, Mark S; Liu, Brent J

    2015-12-01

    MRI has been used to identify multiple sclerosis (MS) lesions in brain and spinal cord visually. Integrating patient information into an electronic patient record system has become key for modern patient care in medicine in recent years. Clinically, it is also necessary to track patients' progress in longitudinal studies, in order to provide comprehensive understanding of disease progression and response to treatment. As the amount of required data increases, there exists a need for an efficient systematic solution to store and analyze MS patient data, disease profiles, and disease tracking for both clinical and research purposes. An imaging informatics based system, called MS eFolder, has been developed as an integrated patient record system for data storage and analysis of MS patients. The eFolder system, with a DICOM-based database, includes a module for lesion contouring by radiologists, a MS lesion quantification tool to quantify MS lesion volume in 3D, brain parenchyma fraction analysis, and provide quantitative analysis and tracking of volume changes in longitudinal studies. Patient data, including MR images, have been collected retrospectively at University of Southern California Medical Center (USC) and Los Angeles County Hospital (LAC). The MS eFolder utilizes web-based components, such as browser-based graphical user interface (GUI) and web-based database. The eFolder database stores patient clinical data (demographics, MS disease history, family history, etc.), MR imaging-related data found in DICOM headers, and lesion quantification results. Lesion quantification results are derived from radiologists' contours on brain MRI studies and quantified into 3-dimensional volumes and locations. Quantified results of white matter lesions are integrated into a structured report based on DICOM-SR protocol and templates. The user interface displays patient clinical information, original MR images, and viewing structured reports of quantified results. The GUI also

  20. Systemic pharmacokinetics and cerebrospinal fluid uptake of intravenous ceftriaxone in patients with amyotrophic lateral sclerosis.

    Science.gov (United States)

    Zhao, Yanli; Cudkowicz, Merit E; Shefner, Jeremy M; Krivickas, Lisa; David, William S; Vriesendorp, Francine; Pestronk, Alan; Caress, James B; Katz, Jonathan; Simpson, Ericka; Rosenfeld, Jeffrey; Pascuzzi, Robert; Glass, Jonathan; Rezania, Kourosh; Harmatz, Jerold S; Schoenfeld, David; Greenblatt, David J

    2014-10-01

    The cephalosporin antibiotic ceftriaxone was evaluated as a potential therapeutic agent for the treatment of amyotrophic lateral sclerosis (ALS). The pharmacokinetics (PK) of ceftriaxone in plasma and cerebrospinal fluid (CSF) were investigated in 66 participants in a previously reported clinical trial. Their mean age was 51 years, and 65% were male. Participants were randomly assigned to 1 of 3 treatment groups receiving intravenous infusions (mean duration: 25 minutes) every 12 hours of either: placebo and placebo; 2 g ceftriaxone and placebo; or 2 g ceftriaxone twice. Mean steady-state plasma PK variables were: volume of distribution, 14 L (0.17 L/kg); elimination half-life, 8-9 h; total clearance, 17-21 mL/min (0.22-0.25 mL/min/kg). Values were not different between dosage groups. CSF PK analysis, determined through sparse CSF sampling, indicated apparent entry and elimination half-life values of 1.0 and 34 hours, respectively. With both dosage regimens, CSF concentrations were maintained above the target threshold of 1.0 µM (0.55 µg/mL) as determined from in vitro models. The plasma and CSF PK profiles of ceftriaxone were used as a basis for planning the Phase 3 clinical trial of ceftriaxone in ALS. © 2014, The American College of Clinical Pharmacology.

  1. Erasmus Syndrome: Silicosis and Systemic Sclerosis.

    Science.gov (United States)

    Jain, Shubhra; Joshi, Vinod; Rathore, Yogendra S; Khippal, Narendra

    2017-01-01

    Several occupational hazards, especially exposure to silica, have been implicated as causal factors for the development of scleroderma-like disorders. Compared to other connective tissue disorders, silica-associated systemic sclerosis (SA-SS) is relatively rare. Silica-induced scleroderma is indistinguishable from idiopathic systemic sclerosis. However, the former expresses a high predisposition of pulmonary involvement and anti-Scl-70 antibody. We report the case of a 42-year-old male, stone cutter by occupation, who was diagnosed as simple chronic silicosis and developed systemic sclerosis.

  2. Neurorehabilitation for multiple sclerosis patients with emotional dysfunctions

    Directory of Open Access Journals (Sweden)

    Yuwen eHung

    2016-01-01

    Full Text Available Depression frequently develops in multiple sclerosis (MS patients, exacerbating the manifestations of the disease and making its management challenging. To date, no consensus has been reached regarding effective treatments for these sufferers due to limited understanding regarding the underlying mechanisms responsible for emotional disorders that are highly comorbid with this disease. There is an urgent need to rethink current treatment options for these patients. This article aims to optimise the treatment outcomes and improve the quality of life for multiple sclerosis patients. Based on an in-depth and critical review of the current literature, we provide a neurorehabilitative framework that explains possible regulatory mechanisms underlying the emotional symptoms highly developed in multiple sclerosis. This article offers practical knowledge and therapeutic strategies to optimise the treatment options in the current care system for MS, as well as for other disabling diseases.

  3. Therapeutic use of sport climbing for patients with multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Ana Ožura

    2009-05-01

    Full Text Available Sport climbing is a form of exercise that requires complex and variable movement. Because of the use of the so-called "top-rope system", this is a safe activity appropriate for individuals with physical disabilities. Therefore, climbing might prove to be an effective form of therapy for patients with multiple sclerosis. Multiple sclerosis is a chronic neurological disease that may include motor and cognitive deficits as well as affective disturbances. The illness is characterized by multifocal areas of brain damage (plaques, as consequence of autoimmune inflammation. Sport climbing might be a potentially useful activity for treating spasticity, improving a person's self image and certain aspects of cognition, such as attention and executive functions, as well as for managing emotional disturbances. All of the above are areas where patients with multiple sclerosis might be in need of assistance. The article also describes the experience of a patient with multiple sclerosis who was enrolled in our climbing program. Future research is needed to evaluate the effect of climbing therapy for patients with multiple sclerosis.

  4. [A patient with dermatomyositis and systemic sclerosis with preferential facioscapulohumeral muscle involvement and fatal cardiomyopathy].

    Science.gov (United States)

    Oya, Y; Toyama, J; Ogawa, M; Nonaka, I; Kawai, M

    2001-06-01

    We report a 23-year-old man suffering from an overlap syndrome of systemic scleroderma and dermatomyositis who died from severe dilated cardiomyopathy. Because his weakness involved predominantly muscles in the facio-scapulo-humeral regions, he was initially thought to have facioscapulohumeral muscular dystrophy (FSHD) at other hospitals. However, he had also Raynaud phenomenon and low voltages on electrocardiogram. His apparent facial weakness was mainly due to atrophic skin changes. Unlike FSHD, the deltoid and levator scapulae muscles were also atrophic. Deltoid muscle biopsy performed one year earlier at another hospital showed mild myopathic changes without inflammation, but there were scattered thick-walled endomysial capillaries, suggesting inflammatory myopathy. Biceps brachii muscle biopsy in our hospital showed marked inflammation with perifascicular atrophy. In this patient, the cardiac muscle involvement progressed together with the skeletal muscle inflammation before scleroderma became apparent.

  5. Stubborn rectal prolapse in systemic sclerosis.

    Science.gov (United States)

    Petersen, Sven; Tobisch, Alexander; Puhl, Gero; Kötter, Ina; Wollina, Uwe

    2017-01-01

    Systemic sclerosis (SSc) is an autoimmune connective tissue disorder. Anorectal involvement might typically cause fecal incontinence and rarely rectal prolapse. Here we report three female patients, who were admitted with a mean history of 10 years suffering from SSc. All patients presented with the initial symptom of anal incontinence, in all cases this was associated with rectal intussusception or rectal prolapse. The three women faced prolapse recurrence, independent of the initial procedure. After surgical removal of the prolapse, the incontinence remained. In SSc rectal prolapse syndrome might occur at an earlier age, and a primary prolapse of the ventral aspect of the rectal wall seems to be typical for this disease. If patients with prior diagnosis of SSc appear with third degree of fecal incontinence, it is suspected to be associated with rectal prolapse. The prolapse recurrence rate after surgery in SSc patients is high.

  6. Gastric antral vascular ectasia--a cause of refractory anaemia in systemic sclerosis.

    LENUS (Irish Health Repository)

    Busteed, S

    2012-02-03

    Recurrent gastrointestinal haemorrhage is an uncommon manifestation of systemic sclerosis. We report a case of gastrointestinal bleeding due to gastric antral vascular ectasia (GAVE) in a patient with systemic sclerosis. Failure to recognise the condition as a cause of gastrointestinal bleeding may delay the instigation of appropriate treatment. GAVE should be considered in the differential diagnosis of anaemia in patients with autoimmune conditions such as systemic sclerosis and primary biliary cirrhosis.

  7. Intrinsic Deregulation of Vascular Smooth Muscle and Myofibroblast Differentiation in Mesenchymal Stromal Cells from Patients with Systemic Sclerosis.

    Directory of Open Access Journals (Sweden)

    Björn Hegner

    Full Text Available Obliterative vasculopathy and fibrosis are hallmarks of systemic sclerosis (SSc, a severe systemic autoimmune disease. Bone marrow-derived mesenchymal stromal cells (MSCs from SSc patients may harbor disease-specific abnormalities. We hypothesized disturbed vascular smooth muscle cell (VSMC differentiation with increased propensity towards myofibroblast differentiation in response to SSc-microenvironment defining growth factors and determined responsible mechanisms.We studied responses of multipotent MSCs from SSc-patients (SSc-MSCs and healthy controls (H-MSCs to long-term exposure to CTGF, b-FGF, PDGF-BB or TGF-β1. Differentiation towards VSMC and myofibroblast lineages was analyzed on phenotypic, biochemical, and functional levels. Intracellular signaling studies included analysis of TGF-β receptor regulation, SMAD, AKT, ERK1/2 and autocrine loops.VSMC differentiation towards both, contractile and synthetic VSMC phenotypes in response to CTGF and b-FGF was disturbed in SSc-MSCs. H-MSCs and SSc-MSCs responded equally to PDGF-BB with prototypic fibroblastic differentiation. TGF-β1 initiated myofibroblast differentiation in both cell types, yet with striking phenotypic and functional differences: In relation to H-MSC-derived myofibroblasts induced by TGF-β1, those obtained from SSc-MSCs expressed more contractile proteins, migrated towards TGF-β1, had low proliferative capacity, and secreted higher amounts of collagen paralleled by reduced MMP expression. Higher levels of TGF-β receptor 1 and enhanced canonical and noncanonical TGF-β signaling in SSc-MSCs accompanied aberrant differentiation response of SSc-MSCs in comparison to H-MSCs.Deregulated VSMC differentiation with a shift towards myofibroblast differentiation expands the concept of disturbed endogenous regenerative capacity of MSCs from SSc patients. Disease related intrinsic hyperresponsiveness to TGF-β1 with increased collagen production may represent one responsible mechanism

  8. HLA Class I and II Blocks Are Associated to Susceptibility, Clinical Subtypes and Autoantibodies in Mexican Systemic Sclerosis (SSc Patients.

    Directory of Open Access Journals (Sweden)

    Tatiana S Rodriguez-Reyna

    Full Text Available Human leukocyte antigen (HLA polymorphism studies in Systemic Sclerosis (SSc have yielded variable results. These studies need to consider the genetic admixture of the studied population. Here we used our previously reported definition of genetic admixture of Mexicans using HLA class I and II DNA blocks to map genetic susceptibility to develop SSc and its complications.We included 159 patients from a cohort of Mexican Mestizo SSc patients. We performed clinical evaluation, obtained SSc-associated antibodies, and determined HLA class I and class II alleles using sequence-based, high-resolution techniques to evaluate the contribution of these genes to SSc susceptibility, their correlation with the clinical and autoantibody profile and the prevalence of Amerindian, Caucasian and African alleles, blocks and haplotypes in this population.Our study revealed that class I block HLA-C*12:03-B*18:01 was important to map susceptibility to diffuse cutaneous (dc SSc, HLA-C*07:01-B*08:01 block to map the susceptibility role of HLA-B*08:01 to develop SSc, and the C*07:02-B*39:05 and C*07:02-B*39:06 blocks to map the protective role of C*07:02 in SSc. We also confirmed previous associations of HLA-DRB1*11:04 and -DRB1*01 to susceptibility to develop SSc. Importantly, we mapped the protective role of DQB1*03:01 using three Amerindian blocks. We also found a significant association for the presence of anti-Topoisomerase I antibody with HLA-DQB1*04:02, present in an Amerindian block (DRB1*08:02-DQB1*04:02, and we found several alleles associated to internal organ damage. The admixture estimations revealed a lower proportion of the Amerindian genetic component among SSc patients.This is the first report of the diversity of HLA class I and II alleles and haplotypes Mexican patients with SSc. Our findings suggest that HLA class I and class II genes contribute to the protection and susceptibility to develop SSc and its different clinical presentations as well as

  9. Gastric Antral Vascular Ectasia in Systemic Sclerosis: Current Concepts

    Directory of Open Access Journals (Sweden)

    Raphael Hernando Parrado

    2015-01-01

    Full Text Available Introduction. Gastric antral vascular ectasia (GAVE is a rare entity with unique endoscopic appearance described as “watermelon stomach.” It has been associated with systemic sclerosis but the pathophysiological changes leading to GAVE have not been explained and still remain uncertain. Methods. Databases Medline, Scopus, Embase, PubMed, and Cochrane were searched for relevant papers. The main search words were “Gastric antral vascular ectasia,” “Watermelon Stomach,” “GAVE,” “Scleroderma,” and “Systemic Sclerosis.” Fifty-four papers were considered for this review. Results. GAVE is a rare entity in the spectrum of manifestations of systemic sclerosis with unknown pathogenesis. Most patients with systemic sclerosis and GAVE present with asymptomatic anemia, iron deficiency anemia, or heavy acute gastrointestinal bleeding. Symptomatic therapy and endoscopic ablation are the first-line of treatment. Surgical approach may be recommended for patients who do not respond to medical or endoscopic therapies. Conclusion. GAVE can be properly diagnosed and treated. Early diagnosis is key in the management of GAVE because it makes symptomatic therapies and endoscopic approaches feasible. A high index of suspicion is critical. Future studies and a critical review of the current findings about GAVE are needed to understand the role of this condition in systemic sclerosis.

  10. Treatment of systemic sclerosis: potential role for stem cell transplantation

    Directory of Open Access Journals (Sweden)

    Wen Xiong

    2009-11-01

    Full Text Available Wen Xiong, Chris T DerkDivision of Rheumatology, Thomas Jefferson University, Philadelphia, PA, 19107, USAAbstract: Hematopoietic stem cell transplantation may “reset” the immune reconstitution and induce self tolerance of autoreactive lymphocytes, and has been explored in the treatments for systemic sclerosis. Phase I/II trials have shown a satisfactory risk benefit ratio. The true benefit will be identified by two ongoing prospective, randomized phase III trials. Multipotent mesenchymal stromal cells (MSCs possess antiproliferative, anti-inflammatory, and immunosuppressive properties. The use of MSCs has showed successful responses in patients with severe steroid-resistant acute graft versus host disease in phase II trials, and may be a potentially promising option for patients with systemic sclerosis.Keywords: scleroderma, systemic sclerosis, treatment, stem cells, transplant

  11. Increased risk of acute myocardial infarction in systemic sclerosis: a nationwide population-based study.

    Science.gov (United States)

    Chu, Szu-Ying; Chen, Yi-Ju; Liu, Chia-Jen; Tseng, Wei-Cheng; Lin, Ming-Wei; Hwang, Chian-Yaw; Chen, Chih-Chiang; Lee, Ding-Dar; Chen, Tzeng-Ji; Chang, Yun-Ting; Wang, Wen-Jen; Liu, Han-Nan

    2013-11-01

    Systemic sclerosis is a life-threatening autoimmune disease characterized by vasculopathy, which results in myocardial involvement in an extremely high percentage of patients. Nevertheless, there have been no large-scale epidemiological studies about the risk of acute myocardial infarction in patients with systemic sclerosis. The aims of this study were to evaluate the hazard ratio (HR) and risk factors of acute myocardial infarction in patients with systemic sclerosis, as well as to compare the risks of acute myocardial infarction among systemic sclerosis patients taking different immunosuppressors. The study cohort included 1344 patients with systemic sclerosis and 13,440 (1:10) age-, sex-, and comorbidity-matched controls during the period between 1997 and 2006, from the National Health Insurance Research Database. We compared the risk of acute myocardial infarction between patients with systemic sclerosis and controls and calculated the adjusted HRs for acute myocardial infarction in systemic sclerosis patients taking immunosuppressors and not taking immunosuppressors. The incidence rates of acute myocardial infarction were 535 and 313 cases per 100,000 person-years for systemic sclerosis cohort and reference cohort, respectively (P systemic sclerosis was found to be an independent risk factor for acute myocardial infarction (HR 2.45). Other risk factors included hypertension (HR 2.08) and diabetes (HR 2.14). The multivariate adjusted HR for acute myocardial infarction did not decrease among the systemic sclerosis patients taking systemic steroids, penicillamine, cyclophosphamide, azathioprine, methotrexate, or cyclosporine. Systemic sclerosis is independently associated with an increased risk of acute myocardial infarction. Immunosuppressors do not lower the risk of acute myocardial infarction in our study. Copyright © 2013 Elsevier Inc. All rights reserved.

  12. Improvement of Mouth Functional Disability in Systemic Sclerosis Patients over One Year in a Trial of Fat Transplantation versus Adipose-Derived Stromal Cells

    Directory of Open Access Journals (Sweden)

    Maria Giuseppina Onesti

    2016-01-01

    Full Text Available Background. Systemic sclerosis (SSc is a multisystem disease characterized by cutaneous and visceral fibrosis. Face and mouth changes include telangiectasia, sicca syndrome, and thinning and reduction of mouth width (microcheilia and opening (microstomia. We applied autologous fat transplantation compared with autologous adipose-derived stromal cells (ADSCs injection to evaluate the clinical improvement of mouth opening. Methods. From February to May 2013 ten consecutive SSc patients were enrolled from the outpatient clinic of Plastic Surgery Department of Sapienza University of Rome. Patients were divided into two groups as follows: 5 patients were treated with fat transplantation and 5 patients received infiltration of ADSCs produced by cell factory of our institution. To value mouth opening, we use the Italian version of Mouth Handicap in Systemic Sclerosis Scale (IvMHISS. Mouth opening was assessed in centimetres (Maximal Mouth Opening, MMO. In order to evaluate compliance and physician and patient satisfaction, we employed a Questionnaire of Satisfaction and the Visual Analogic Scale (VAS performed before starting study and 1 year after the last treatment. Results and Conclusion. We noticed that both procedures obtained significant results but neither one emerged as a first-choice technique. The present clinical experimentation should be regarded as a starting point for further experimental research and clinical trials.

  13. Systemic Vasculitis During the Course of Systemic Sclerosis

    Science.gov (United States)

    Quéméneur, Thomas; Mouthon, Luc; Cacoub, Patrice; Meyer, Olivier; Michon-Pasturel, Ulrique; Vanhille, Philippe; Hatron, Pierre-Yves; Guillevin, Loïc; Hachulla, Eric

    2013-01-01

    Abstract Although the presence of antineutrophil cytoplasmic antibodies (ANCA) has been reported in patients with systemic sclerosis (SSc), the association of SSc and systemic vasculitis has rarely been described. We obtained information on cases of systemic vasculitis associated with SSc in France from the French Vasculitis Study Group and all members of the French Research Group on Systemic Sclerosis. We identified 12 patients with systemic vasculitis associated with SSc: 9 with ANCA-associated systemic vasculitis (AASV) and 3 with mixed cryoglobulinemia vasculitis (MCV). In all AASV patients, SSc was of the limited type. The main complication of SSc was pulmonary fibrosis. Only 2 patients underwent a D-penicillamine regimen before the occurrence of AASV. The characteristics of AASV were microscopic polyangiitis (n = 7) and renal limited vasculitis (n = 2). Anti-myeloperoxidase antibodies were found in 8 of the 9 patients. The Five Factor Score was above 1 in 3 of the 9 patients. Of the 3 patients with MCV, Sjögren syndrome was confirmed in 2. We compared our findings with the results of a literature review (42 previously reported cases of AASV with SSc). Although rare, vasculitis is a complication of SSc. AASV is the most frequent type, and its diagnosis can be challenging when the kidney is injured. Better awareness of this rare association could facilitate earlier diagnosis and appropriate management to reduce damage. PMID:23263715

  14. Cardio-pulmonary involvement in systemic sclerosis: A study at a tertiary care center

    Directory of Open Access Journals (Sweden)

    Geetakiran Arakkal

    2017-01-01

    Conclusions: In our patients, pulmonary involvement was more common than cardiac involvement. Interstitial lung disease and cardiac involvement were more commonly seen in diffuse systemic sclerosis whereas pulmonary hypertension was more frequent in limited systemic sclerosis. Hence, it is important to screen the patients for cardiopulmonary involvement for early diagnosis and treatment and a better prognostic outcome.

  15. Tomography patterns of lung disease in systemic sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Bastos, Andrea de Lima; Correa, Ricardo de Amorim; Ferreira, Gilda Aparecida, E-mail: andrealb@ufmg.br [Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG (Brazil). Faculdade de Medicina

    2016-09-15

    Currently, lung impairment is the leading factor responsible for the morbidity and mortality associated with systemic sclerosis. Therefore, the recognition of the various tomography patterns becomes decisive in the clinical management of these patients. In high-resolution computed tomography studies, the most common pattern is that of nonspecific interstitial pneumonia. However, there are other forms of lung involvement that must also be recognized. The aim of this study was to review the literature on the main changes resulting from pulmonary involvement in systemic sclerosis and the corresponding radiological findings, considering the current classification of interstitial diseases. We searched the Medline (PubMed), Lilacs, and SciELO databases in order to select articles related to pulmonary changes in systemic sclerosis and published in English between 2000 and 2015. The pulmonary changes seen on computed tomography in systemic sclerosis are varied and are divided into three main categories: interstitial, alveolar, and vascular. Interstitial changes constitute the most common type of pulmonary involvement in systemic sclerosis. However, alveolar and vascular manifestations must also be recognized and considered in the presence of atypical clinical presentations and inadequate treatment responses. (author)

  16. Tomography patterns of lung disease in systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Andréa de Lima Bastos

    Full Text Available Abstract Currently, lung impairment is the leading factor responsible for the morbidity and mortality associated with systemic sclerosis. Therefore, the recognition of the various tomography patterns becomes decisive in the clinical management of these patients. In high-resolution computed tomography studies, the most common pattern is that of nonspecific interstitial pneumonia. However, there are other forms of lung involvement that must also be recognized. The aim of this study was to review the literature on the main changes resulting from pulmonary involvement in systemic sclerosis and the corresponding radiological findings, considering the current classification of interstitial diseases. We searched the Medline (PubMed, Lilacs, and SciELO databases in order to select articles related to pulmonary changes in systemic sclerosis and published in English between 2000 and 2015. The pulmonary changes seen on computed tomography in systemic sclerosis are varied and are divided into three main categories: interstitial, alveolar, and vascular. Interstitial changes constitute the most common type of pulmonary involvement in systemic sclerosis. However, alveolar and vascular manifestations must also be recognized and considered in the presence of atypical clinical presentations and inadequate treatment responses.

  17. Associations between Systemic Sclerosis and Thyroid Diseases

    Directory of Open Access Journals (Sweden)

    Poupak Fallahi

    2017-10-01

    Full Text Available We have reviewed scientific literature about the association of systemic sclerosis (SSc and thyroid disorders. A high incidence, and prevalence, of new cases of autoimmune thyroiditis (AT and/or hypothyroidism have been shown in sclerodermic patients (overall in the female gender. An association among a Th1 immune-predominance, low vitamin D levels, and AT have been also shown in SSc patients. Cases of Graves’ disease (GD have been described in SSc patients, too, according with the higher prevalence of thyroid autoimmunity. It has been also shown a higher prevalence of papillary thyroid cancer (PTC, in association with AT, in SSc patients. However, in order to confirm results about GD and thyroid cancer, studies in larger number of patients with SSc are needed. During the follow-up of SSc patients it would be appropriate to monitor carefully their thyroid status. The abovementioned data strongly suggest a periodic thyroid function follow-up in female SSc patients [showing a borderline high (although in the normal range thyroid-stimulating hormone level, antithyroid peroxidase antibody positivity, and a small thyroid with a hypoechoic pattern], and, when necessary, appropriate treatments. In conclusion, most of the studies show an association among SSc, AT, and hypothyroidism, such as an increased prevalence of TC overall in SSc patients with AT. Only few cases of GD have been also described in SSc.

  18. Musical identity of patients with multiple sclerosis.

    Science.gov (United States)

    Moreira, Shirlene Vianna; França, Cecília Cavalieri; Moreira, Marcos Aurélio; Lana-Peixoto, Marco Aurélio

    2009-03-01

    Musical autobiographies consist of a powerful therapeutic tool by which individuals define themselves. The use of this technique may help (re)construction personal identities and improve quality of life of patients with multiple sclerosis (MS). Eight adult patients on treatment at CIEM Multiple Sclerosis Investigation Center after selecting 10 to 15 pieces of music most significant in their lives were interviewed. The data collected were classified according to Even Rudd categories, which reveal how a person expresses his personal, social, temporal and transpersonal identities. We observed that recall of musical history makes MS patients get better perception both of their feelings and body awareness, as well as provide them with an alternative way to express themselves, activate and contextualize affective memories, and achieving a sense of life continuity in spite of the disease.

  19. Temporomandibular joint disorder in systemic sclerosis: a case report

    Science.gov (United States)

    Chebbi, Raja; Khalifa, Hanen Ben; Dhidah, Monia

    2016-01-01

    Systemic sclerosis have several effects on the orofacial region such as widening of the periodontal ligament space, xerostomia and bone resorption of the mandible. We report a case of systemic sclerosis with temporomandibular joint involvement in a 45-year-old female patient accompanied by severe limited mouth opening and pain in the right and left preauricular regions and tenderness in masseter muscles with a morning stiffness of jaws.Magnetic resonance imaging showed a resorption of mandibular condylar process, with disk and joint abnormalities. PMID:28292126

  20. Autoantibodies in systemic sclerosis: Unanswered questions

    Directory of Open Access Journals (Sweden)

    CRISTIANE eKAYSER

    2015-04-01

    Full Text Available Systemic sclerosis (SSc is an autoimmune disease characterized by vascular abnormalities, and cutaneous and visceral fibrosis. Serum autoantibodies directed to multiple intracellular antigens are present in more than 95% of patients and are considered a hallmark of SSc. They are helpful biomarkers for the early diagnosis of SSc and are associated with distinctive clinical manifestations. With the advent of more sensitive, multiplexed immunoassays, new and old questions about the relevance of autoantibodies in SSc are emerging. In this review we discuss the clinical relevance of autoantibodies in SSc emphasizing the more recently published data. Moreover, we will summarize recent advances regarding the stability of SSc autoantibodies over the course of disease, whether they are mutually exclusive and their potential roles in the disease pathogenesis.

  1. Epigenetics: The Future Direction in Systemic Sclerosis.

    Science.gov (United States)

    Walczyk, M; Paradowska-Gorycka, A; Olesinska, M

    2017-12-01

    Systemic sclerosis (SSc) is an immune-mediated connective tissue disease of which the aetiology is still unclear. Previous genetic studies including candidate-gene studies and genomewide association studies have identified a number of genetic variations that confer risk to SSc. However, these variants, such as single nucleotide polymorphisms, cannot completely explain the SSc susceptibility and the diversity in the clinical symptoms of SSc patients. The contribution of epigenetic mechanisms as a link between genetics and environmental triggers represents promising field in understanding the pathogenesis of SSc. The aim of this review was to present the current knowledge on epigenetic mechanisms and highlight novel directions in diagnostic and therapeutical approaches. © 2017 The Foundation for the Scandinavian Journal of Immunology.

  2. Systemic sclerosis presenting as CREST syndrome: A case report ...

    African Journals Online (AJOL)

    Case report. A 31 years old female patient from senafe with remote history of systemic sclerosis and recurrent hospital admissions presented to the ED of Orotta hospital with shortness of breath and altered mental status. She had generalized body weakness, and dry cough associated with chest pain. She also complained.

  3. Early- versus Late-Onset Systemic Sclerosis

    Science.gov (United States)

    Alba, Marco A.; Velasco, César; Simeón, Carmen Pilar; Fonollosa, Vicent; Trapiella, Luis; Egurbide, María Victoria; Sáez, Luis; Castillo, María Jesús; Callejas, José Luis; Camps, María Teresa; Tolosa, Carles; Ríos, Juan José; Freire, Mayka; Vargas, José Antonio; Espinosa, Gerard

    2014-01-01

    Abstract Peak age at onset of systemic sclerosis (SSc) is between 20 and 50 years, although SSc is also described in both young and elderly patients. We conducted the present study to determine if age at disease onset modulates the clinical characteristics and outcome of SSc patients. The Spanish Scleroderma Study Group recruited 1037 patients with a mean follow-up of 5.2 ± 6.8 years. Based on the mean ± 1 standard deviation (SD) of age at disease onset (45 ± 15 yr) of the whole series, patients were classified into 3 groups: age ≤30 years (early onset), age between 31 and 59 years (standard onset), and age ≥60 years (late onset). We compared initial and cumulative manifestations, immunologic features, and death rates. The early-onset group included 195 patients; standard-onset group, 651; and late-onset, 191 patients. The early-onset group had a higher prevalence of esophageal involvement (72% in early-onset compared with 67% in standard-onset and 56% in late-onset; p = 0.004), and myositis (11%, 7.2%, and 2.9%, respectively; p = 0.009), but a lower prevalence of centromere antibodies (33%, 46%, and 47%, respectively; p = 0.007). In contrast, late-onset SSc was characterized by a lower prevalence of digital ulcers (54%, 41%, and 34%, respectively; p < 0.001) but higher rates of heart conduction system abnormalities (9%, 13%, and 21%, respectively; p = 0.004). Pulmonary hypertension was found in 25% of elderly patients and in 12% of the youngest patients (p = 0.010). After correction for the population effects of age and sex, standardized mortality ratio was shown to be higher in younger patients. The results of the present study confirm that age at disease onset is associated with differences in clinical presentation and outcome in SSc patients. PMID:24646463

  4. The endocannabinoid system and multiple sclerosis.

    Science.gov (United States)

    Baker, David; Pryce, Gareth

    2008-01-01

    Multiple sclerosis (MS) is a neurodegenerative disease that is characterised by repeated inflammatory/demyelinating events within the central nervous system (CNS). In addition to relapsing-remitting neurological insults, leading to loss of function, patients are often left with residual, troublesome symptoms such as spasticity and pain. These greatly diminish "quality of life" and have prompted some patients to self-medicate with and perceive benefit from cannabis. Recent advances in cannabinoid biology are beginning to support these anecdotal observations, notably the demonstration that spasticity is tonically regulated by the endogenous cannabinoid system. Recent clinical trials may indeed suggest that cannabis has some potential to relieve, pain, spasms and spasticity in MS. However, because the CB(1) cannabinoid receptor mediates both the positive and adverse effects of cannabis, therapy will invariably be associated with some unwanted, psychoactive effects. In an experimental model of MS, and in MS tissue, there are local perturbations of the endocannabinoid system in lesional areas. Stimulation of endocannabinoid activity in these areas either through increase of synthesis or inhibition of endocannabinoid degradation offers the positive therapeutic potential of the cannabinoid system whilst limiting adverse events by locally targeting the lesion. In addition, CB(1) and CB(2) cannabinoid receptor stimulation may also have anti-inflammatory and neuroprotective potential as the endocannabinoid system controls the level of neurodegeneration that occurs as a result of the inflammatory insults. Therefore cannabinoids may not only offer symptom control but may also slow the neurodegenerative disease progression that ultimately leads to the accumulation of disability.

  5. Low field-low cost: Can low-field magnetic resonance systems replace high-field magnetic resonance systems in the diagnostic assessment of multiple sclerosis patients?

    International Nuclear Information System (INIS)

    Ertl-Wagner, B.B.; Reith, W.; Sartor, K.

    2001-01-01

    As low-field MR imaging is becoming a widely used imaging technique, we aimed at a prospective assessment of differences in imaging quality between low- and high-field MR imaging in multiple sclerosis patients possibly interfering with diagnostic or therapeutic decision making. Twenty patients with clinically proven multiple sclerosis were examined with optimized imaging protocols in a 1.5- and a 0.23-T MR scanner within 48 h. Images were assessed independently by two neuroradiologists. No statistically significant interrater discrepancies were observed. A significantly lower number of white matter lesions could be identified in low-field MR imaging both on T1- and on T2-weighted images (T2: high field 700, low field 481; T1: high field 253, low field 177). A total of 114 enhancing lesions were discerned in the high-field MR imaging as opposed to 45 enhancing lesions in low-field MR imaging. Blood-brain barrier disruption was identified in 11 of 20 patients in the high-field MR imaging, but only in 4 of 20 patients in low-field MR imaging. Since a significantly lower lesion load is identified in low-field MR imaging than in high-field MR imaging, and blood-brain barrier disruption is frequently missed, caution must be exercised in interpreting a normal low-field MR imaging scan in a patient with clinical signs of multiple sclerosis and in interpreting a scan without enhancing lesions in a patient with known multiple sclerosis and clinical signs of exacerbation. (orig.)

  6. Proteome-wide Analysis and CXCL4 as a Biomarker in Systemic Sclerosis

    NARCIS (Netherlands)

    van Bon, L.; Affandi, A. J.; Broen, J.; Christmann, R. B.; Marijnissen, R. J.; Stawski, L.; Farina, G. A.; Stifano, G.; Mathes, A. L.; Cossu, M.; York, M.; Collins, C.; Wenink, M.; Huijbens, R.; Hesselstrand, R.; Saxne, T.; DiMarzio, M.; Wuttge, D.; Agarwal, S. K.; Reveille, J. D.; Assassi, S.; Mayes, M.; Deng, Y.; Drenth, J. P. H.; de Graaf, J.; den Heijer, M.; Kallenberg, C. G. M.; Bijl, M.; Loof, A.; van den Berg, W. B.; Joosten, L. A. B.; Smith, V.; de Keyser, F.; Scorza, R.; Lunardi, C.; van Riel, P. L. C. M.; Vonk, M.; van Heerde, W.; Meller, S.; Homey, B.; Beretta, L.; Roest, M.; Trojanowska, M.; Lafyatis, R.; Radstake, T. R. D. J.

    2014-01-01

    BackgroundPlasmacytoid dendritic cells have been implicated in the pathogenesis of systemic sclerosis through mechanisms beyond the previously suggested production of type I interferon. MethodsWe isolated plasmacytoid dendritic cells from healthy persons and from patients with systemic sclerosis who

  7. Early aggressive intra-venous pulse cyclophosphamide therapy for interstitial lung disease in a patient with systemic sclerosis. A case report.

    LENUS (Irish Health Repository)

    Peshin, R

    2009-06-01

    Interstitial lung disease is an important cause of mortality and morbidity in patients with systemic sclerosis (SSc). There are currently no recommended guidelines for management of these patients. This is probably due to the rarity of this condition, as well as clinical trials with only a small number of cases. There are published case report and case series along with the two main trials, viz. Scleroderma Lung Study and the Fibrosing Alveolitis Study, but again, there is no consensus on treatment protocols. In this report, we present a case of aggressive interstitial lung disease in a patient with SSc, which improved dramatically on treatment with intra-venous cyclophosphamide and high dose prednisolone therapy.

  8. Deterioration of lung function is associated with presence of IgM rheumatoid factor and smoking in patients with systemic sclerosis

    DEFF Research Database (Denmark)

    Broholm, B.; Ullman, S.; Halberg, P.

    2008-01-01

    of patients with systemic sclerosis (SSc) the influence of smoking and IgM RF on the lung function was calculated. One hundred fifty-five persons with SSc had vital capacity (VC) and diffusing capacity (DLco) measured at least twice with at least 1-year interval as percents of predicted values according...... and whether the presence of IgM RF in smoking patients with SSc actually confers an increased risk of pulmonary damage remains to be determined Udgivelsesdato: 2008/8......Smoking is a known risk factor for the development of several lung diseases, autoimmune diseases, and IgM rheumatoid factor (RF) in nonrheumatic persons. In patients with rheumatoid arthritis and IgM RF the diffusion capacity is decreased in smokers but not in nonsmokers. In the present study...

  9. Deterioration of lung function is associated with presence of IgM rheumatoid factor and smoking in patients with systemic sclerosis

    DEFF Research Database (Denmark)

    Broholm, Berit; Ullman, Susanne; Halberg, Poul

    2008-01-01

    of patients with systemic sclerosis (SSc) the influence of smoking and IgM RF on the lung function was calculated. One hundred fifty-five persons with SSc had vital capacity (VC) and diffusing capacity (DLco) measured at least twice with at least 1-year interval as percents of predicted values according...... and whether the presence of IgM RF in smoking patients with SSc actually confers an increased risk of pulmonary damage remains to be determined.......Smoking is a known risk factor for the development of several lung diseases, autoimmune diseases, and IgM rheumatoid factor (RF) in nonrheumatic persons. In patients with rheumatoid arthritis and IgM RF the diffusion capacity is decreased in smokers but not in nonsmokers. In the present study...

  10. Gastro-intestinal involvement in systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Saurabh Kedia

    2017-01-01

    Full Text Available The gastrointestinal (GI tract can be involved in up to 90% of patients with systemic sclerosis (SSc and is the leading cause of morbidity and third most common cause of mortality in these patients. The GI involvement can occur in the absence of cutaneous manifestations in 10% of patients. Vasculopathy, cellular and humoral immunity, and diffuse fibrosis are the principal pathogenetic mechanisms in SSc and begin with autoantibody-mediated neuronal damage followed by muscular damage and fibrosis. This leads to progressive dysmotility of the entire GI tract from mouth to anus and is responsible for the clinical manifestations including gastroesophageal reflux disease and dysphagia due to esophageal involvement, gastroparesis, small intestinal bacterial overgrowth and chronic intestinal pseudo-obstruction, and constipation due to colonic and fecal incontinence due to anorectal involvement. The clinical features resulting from the involvement of these organs often overlap and multiple areas may be involved simultaneously. The treatment remains mostly symptomatic because effective disease-modifying therapies are lacking. These patients are at a risk of malnutrition and nutritional screening, and thus rehabilitation is very important. Refractory cases require nutritional support in the form of enteral nutrition and/or home parenteral nutrition. Future research is needed in the pathogenesis, development of biomarkers for early identification of GI involvement at the asymptomatic stage, and targeted disease-modifying therapies, which can alter/halt the disease progression.

  11. Insulin resistance in drug naive patients with multiple sclerosis

    OpenAIRE

    Kostić Smiljana; Kolić Ivana; Raičević Ranko; Stojanović Zvezdana; Kostić Dejan; Dinčić Evica

    2017-01-01

    Background/Aim. Due to the fact that there is a relatively small number of data related to systemic insulin abnormalities in the multiple sclerosis (MS), the main objective of our study was to determine whether a dysbalance of glucose and insulin metabolism exist in patients with natural course of MS. Our hypothesis was that the metabolic disorder that characterizes state of the insulin resistance (IR) and reduced insulin sensitivity (IS) in untreated patie...

  12. Measurement of cold challenge responses in primary Raynaud's phenomenon and Raynaud's phenomenon associated with systemic sclerosis.

    Science.gov (United States)

    O'Reilly, D; Taylor, L; el-Hadidy, K; Jayson, M I

    1992-01-01

    Using computed thermography continuous temperature recordings were made before and after cold challenge of the fingers of control subjects and patients with primary Raynaud's phenomenon and Raynaud's phenomenon associated with systemic sclerosis. Basal skin temperature measurements (Tpre) were significantly lower in patients with primary Raynaud's phenomenon and Raynaud's phenomenon associated with systemic sclerosis than in the controls. Temperatures immediately after cold challenge (T0) were significantly lower in patients with primary Raynaud's phenomenon and Raynaud's phenomenon associated with systemic sclerosis than in controls. The lag phase before the start of temperature recovery (Tlag) was significantly greater in patients with primary Raynaud's phenomenon and Raynaud's phenomenon associated with systemic sclerosis than in control subjects. The maximum recovery index (R%) was significantly less in patients with primary Raynaud's phenomenon and Raynaud's phenomenon associated with systemic sclerosis than in controls. The maximum rate of change of temperature during the rapid phase of rewarming (Gmax) was significantly greater in controls than in patients with primary Raynaud's phenomenon and Raynaud's phenomenon associated with systemic sclerosis. Discriminant analysis showed that the dynamic parameters of rewarming (Tlag, Gmax, and R%) showed greater variation between the patients with primary Raynaud's phenomenon and those with Raynaud's phenomenon associated with systemic sclerosis than did Tpre or T0. This method of analysis of cold challenge will be used in studies of the effects of treatment of Raynaud's phenomenon. PMID:1466594

  13. Immune system alterations in amyotrophic lateral sclerosis

    DEFF Research Database (Denmark)

    Hovden, H; Frederiksen, J L; Pedersen, S W

    2013-01-01

    Amyotrophic lateral sclerosis is a disease of which the underlying cause and pathogenesis are unknown. Cumulatative data clearly indicates an active participation by the immune system in the disease. An increasingly recognized theory suggests a non-cell autonomous mechanism, meaning that multiple...

  14. The cardiac magnetic resonance in the diagnosis of cardiac Raynaud phenomenon in a patient with systemic sclerosis: case report and review of literature.

    Science.gov (United States)

    Quarta, Silvia; Galea, Nicola; Gigante, Antonietta; Romaniello, Antonella; Rosato, Edoardo; Carbone, Iacopo

    2016-01-01

    Raynaud phenomenon (RP) is the hallmark of Systemic Sclerosis (SSc). Visceral RP has also been proposed in SSc patients. Cardiac Raynaud's phenomenon (C-RP) was evaluated in a few clinical studies both as cold-induced transient myocardial ischaemia and as presence of advanced myocardial fibrosis and contraction band necrosis in autopsied patients. Until today numerous techniques, such as scintigraphy and myocardial contrast echocardiography, have been used to evaluate C-RP. In this case report for the first time we have used Cardiac Magnetic Resonance (CMR) after cold test to demonstrate the presence of the C-RP. In addition we have shown that therapy with Iloprost can be used to reduce episodes of C-RP.

  15. Oral and periodontal manifestations associated with systemic sclerosis: A case series and review

    OpenAIRE

    Rekha Jagadish; Dhoom Singh Mehta; P Jagadish

    2012-01-01

    Systemic sclerosis is a rare connective tissue disorder with a wide range of oral manifestations. This case series reports significant oral and periodontal changes and also makes an attempt to correlate oral and systemic findings in these patients which enable the clinician for a better diagnosis and evolve a comprehensive treatment plan. Six patients with a known diagnosis of systemic sclerosis were included. After obtaining the patient's informed consent, relevant medical history, oral mani...

  16. Pulmonary vasospasm in systemic sclerosis: noninvasive techniques for detection

    OpenAIRE

    Keir, Gregory J.; Nair, Arjun; Giannarou, Stamatia; Yang, Guang-Zhong; Oldershaw, Paul; Wort, S. John; MacDonald, Peter; Hansell, David M.; Wells, Athol U.

    2015-01-01

    In a subgroup of patients with systemic sclerosis (SSc), vasospasm affecting the pulmonary circulation may contribute to worsening respiratory symptoms, including dyspnea. Noninvasive assessment of pulmonary blood flow (PBF), utilizing inert-gas rebreathing (IGR) and dual-energy computed-tomography pulmonary angiography (DE-CTPA), may be useful for identifying pulmonary vasospasm. Thirty-one participants (22 SSc patients and 9 healthy volunteers) underwent PBF assessment with IGR and DE-CTPA ...

  17. Incidence and predictors of cutaneous manifestations during the early course of systemic sclerosis

    DEFF Research Database (Denmark)

    Wirz, Elina G; Jaeger, Veronika K; Allanore, Yannick

    2016-01-01

    OBJECTIVES: To longitudinally map the onset and identify risk factors for skin sclerosis and digital ulcers (DUs) in patients with systemic sclerosis (SSc) from an early time point after the onset of Raynaud's phenomenon (RP) in the European Scleroderma Trials and Research (EUSTAR) cohort. METHOD...

  18. Abundance of Stress, Anxiety and Depression in Multiple Sclerosis Patients

    Directory of Open Access Journals (Sweden)

    A. Dehghan

    2013-05-01

    Conclusion: The findings of this research revealed high stress, anxiety and depression in Multiple Sclerosis Patients that can jeopardize their health. Hence the providing appropriate education for coping and adapting with the symptoms in Multiple Sclerosis Patients seems to be necessary.

  19. Identification of epileptogenic tubers in patients with tuberous sclerosis complex

    NARCIS (Netherlands)

    Jansen, F.E.

    2007-01-01

    Identification of epileptogenic tubers in patients with tuberous sclerosis complex Tuberous sclerosis complex (TSC) is associated with epilepsy and mental retardation. The principal aim of this thesis was to identify epileptogenic tuber(s) enabling the selection of patients for epilepsy surgery. In

  20. Coexistence of diabetes mellitus type 1 with diffuse systemic sclerosis - case report and literature review.

    Science.gov (United States)

    Wielosz, Ewa; Kurowska, Maria; Suszek, Dorota; Majdan, Maria

    2017-01-01

    Diabetic sclerodactyly is a frequently recognized skin finding that may occur in patients with diabetes mellitus but coexistence of diabetes and systemic sclerosis is rare. We describe a case of coexistence of type 1 diabetes mellitus and systemic sclerosis in 42-year-old man with the history of Raynaud's phenomenon, progressive diffuse hardening of the skin and sclerodactyly, slowly worsening with time. The medical history included type 1 diabetes since childhood with microvascular complications. The patient presented a typical capillaroscopic scleroderma-like pattern, antinuclear antibodies and sclerotic lesions in gastrointestinal system. Summing up, our case represents the rare coexistence of autoimmune diseases like diabetes mellitus type 1 and systemic sclerosis.

  1. Dermatoglyphic features in patients with multiple sclerosis.

    Science.gov (United States)

    Sabanciogullari, Vedat; Cevik, Seyda; Karacan, Kezban; Bolayir, Ertugrul; Cimen, Mehmet

    2014-10-01

    To examine dermatoglyphic features to clarify implicated genetic predisposition in the etiology of multiple sclerosis (MS). The study was conducted between January and December 2013 in the Departments of Anatomy, and Neurology, Cumhuriyet University School of Medicine, Sivas, Turkey. The dermatoglyphic data of 61 patients, and a control group consisting of 62 healthy adults obtained with a digital scanner were transferred to a computer environment. The ImageJ program was used, and atd, dat, adt angles, a-b ridge count, sample types of all fingers, and ridge counts were calculated. In both hands of the patients with MS, the a-b ridge count and ridge counts in all fingers increased, and the differences in these values were statistically significant. There was also a statistically significant increase in the dat angle in both hands of the MS patients. On the contrary, there was no statistically significant difference between the groups in terms of dermal ridge samples, and the most frequent sample in both groups was the ulnar loop. Aberrations in the distribution of dermatoglyphic samples support the genetic predisposition in MS etiology. Multiple sclerosis susceptible individuals may be determined by analyzing dermatoglyphic samples.

  2. Sleep quality in patients with systemic sclerosis: relationship between the clinical variables, depressive symptoms, functional status, and the quality of life.

    Science.gov (United States)

    Sariyildiz, Mustafa Akif; Batmaz, Ibrahim; Budulgan, Mahmut; Bozkurt, Mehtap; Yazmalar, Levent; Inanir, Ahmet; Celepkolu, Tahsin; Çevik, Remzi

    2013-08-01

    The aim of this study is to evaluate the relationship between the sleep quality and the disease-related variables, functional status, quality of life, and depressive symptoms in patients with systemic sclerosis (SSc). Forty-eight patients diagnosed with SSc and 42 healthy control subjects were enrolled in the study. The demographic and clinical characteristics of the patients such as the Raynaud's phenomenon, SSc subtype, digital ulcers, gastrointestinal and lung involvement, and disease activity were recorded. All patients were assessed using the short form 36 (SF-36) quality of life scale, the health assessment questionnaire and the beck depression inventory. Generalized pain and fatigue were assessed with the Visual Analoge Scale. For the evaluation of the sleep disturbance, the SSc and control groups were assessed with the help of the Pittsburgh Sleep Quality Index (PSQI). The patients with SSc had significantly higher scores in the subjective sleep quality, sleep latency, habitual sleep efficiency, sleep disturbance, daytime dysfunction domains, and in terms of the total PSQI score compared to the healthy control group (p sleep disturbance (p sleep disturbance (p sleep quality is disturbed in patients with SSc. The lower quality of sleep is especially associated with the pain, fatigue, depressive symptoms, and functional status.

  3. Optimal management of digital ulcers in systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Abraham S

    2015-06-01

    Full Text Available Shawn Abraham, Virginia SteenDivision of Rheumatology, Immunology, and Allergy, MedStar Georgetown University Hospital, Washington, DC, USAAbstract: Raynaud’s phenomenon and digital ulcerations are two common clinical features seen in patients with systemic sclerosis. They are painful and lead to significant morbidity and altered hand function within this patient population. While currently there are no US Food and Drug Administration (FDA-approved medications for the treatment of digital ulcerations in the United States, clinical trials have supported the use of pharmacologic and nonpharmacologic modalities in facilitating healing of existing digital ulcers and preventing formation of new ulcers. This article reviews the published data on these therapeutic options.Keywords: scleroderma, systemic sclerosis, Raynaud’s phenomenon, digital ulcers, treatment

  4. Interstitial Lung disease in Systemic Sclerosis

    International Nuclear Information System (INIS)

    Ooi, G.C.; Mok, M.Y.; Tsang, K.W.T.; Khong, P.L.; Fung, P.C.W.; Chan, S.; Tse, H.F.; Wong, R.W.S.; Lam, W.K.; Lau, C.S.; Wong, Y.

    2003-01-01

    Purpose: To evaluate high-resolution CT (HRCT) parameters of inflammation and fibrosis in systemic sclerosis (SSc), for correlation with lung function, skin scores and exercise tolerance. Material and Methods: : 45 SSc patients (40 women, 48.5±13.4 years), underwent thoracic HRCT, lung function assessment, and modified Rodnan skin scores. Exercise tolerance was also graded. HRCT were scored for extent of 4 HRCT patterns of interstitial lung disease (ILD): ground glass opacification (GGO), reticular, mixed and honeycomb pattern in each lobe. Total HRCT score, inflammation index (GGO and mixed score) and fibrosis index (reticular and honeycomb scores) were correlated with lung function and clinical parameters. Results: ILD was present in 39/45 (86.7%) patients. Abnormal (<80% predicted) forced vital capacity (FVC), total lung capacity (TLC) and carbon monoxide diffusion factor (DLco) were detected in 30%, 22% and 46% of patients. Total HRCT score correlated with FVC (r=0.43, p=0.008), FEV1 (forced expiratory volume) (r=-0.37, p=0.03), TLC (r=-0.47, p=0.003), and DLCO (r=-0.43, p=0.008); inflammatory index with DLCO (r=-0.43, p=0.008) and exercise tolerance (r=-0.39, p < 0.05); and fibrosis index with FVC (r=-0.31, p=0.05) and TLC (r=-0.38, p=0.02). Higher total HRCT score, and inflammation and fibrosis indices were found in patients with abnormal lung function. Conclusion: Qualitative HRCT is able to evaluate inflammation and fibrosis, showing important relationships with diffusion capacity and lung volume, respectively

  5. Systemic sclerosis, birth order and parity.

    Science.gov (United States)

    Russo, Paul A J; Lester, Susan; Roberts-Thomson, Peter J

    2014-06-01

    A recent study identified increasing birth order to be a risk factor for the development of systemic sclerosis (SSc). This finding supports the theory that transplacental microchimerism may be a key pathological event in the initiation of SSc. We investigated the relationship between birth order and parity and the age of onset of SSc in South Australia. A retrospective analysis of patient data in the South Australian Scleroderma Register was performed. Data were obtained from a mailed questionnaire. Control data was collected prospectively using a similar questionnaire. The relationship between birth order, family size or parity and risk of subsequent development of SSc was analyzed by mixed effects logistic regression analysis. Three hundred and eighty-seven index probands were identified and compared with 457 controls. Controls were well matched for gender, but not for age. No statistically significant relationship was identified between SSc and birth order, parity in females, family size, age at first pregnancy in females or gender of first child in parous females. Our data suggests that parity, age at first pregnancy and the gender of the first child are not relevant factors in our understanding of the epidemiology and pathogenesis of SSc. Birth order and family size in both genders also appears irrelevant. These results argue against microchimerism as being relevant in the pathogenesis of SSc and add further support to the theory that stochastic events may be important in the etiopathogenesis of SSc. © 2013 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

  6. Psychiatric Symptoms and Quality of Life in Systemic Sclerosis

    OpenAIRE

    Mura, G; Bhat, Krishna M; Pisano, A; Licci, G; Carta, MG

    2012-01-01

    Introduction: Systemic sclerosis (SSc) is a rare conjunctive tissue disorder characterized by fibrosis of the skin and internal organs, and vascular obliteration phenomena. Patients with SSc often experience elevated symptoms of psychological distress, determined by the disfiguration, the pain, the fatigue sensation, and the difficult in daily life occupations. The characteristics of the disease may influence the perceived quality of life (QoL) in people with SSc. Methods: This is a narrative...

  7. Risks of multiple sclerosis in relatives of patients in Flanders, Belgium

    NARCIS (Netherlands)

    Carton, H; Vlietinck, R; Debruyne, J; DeKeyser, J; DHooghe, MB; Loos, R; Medaer, R; Truyen, L; Yee, IML; Sadovnick, AD

    Objectives - To calculate age adjusted risks for multiple sclerosis in relatives of Flemish patients with multiple sclerosis. Methods - Lifetime risks were calculated using the maximum likelihood approach. Results - Vital information was obtained on 674 probands with multiple sclerosis in Flanders

  8. Optical Elastography of Systemic Sclerosis Skin

    Science.gov (United States)

    2017-09-01

    have been tested in SSc, with varying success. Here, we advance a novel contact-independent noninvasive technique capable of micrometer/nanometer...1, the animal model of SSc has been successfully re-established. In addition, animals are being scheduled for the proposed treatment and monitoring...study. 15. SUBJECT TERMS Systemic Sclerosis, Imaging, Skin, Diagnostics, Animal Models, OCT, OCE 16. SECURITY CLASSIFICATION OF: 17. LIMITATION OF

  9. Pro-angiogenic cytokines in systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Ewa Robak

    2014-12-01

    Full Text Available Systemic sclerosis (SSc is a multifactorial connective tissue disease characterized by excessive and progressive fibrosis along with microvasculopathy due to poor vascular formation and repair. Despite a general increase in many potent angiogenic factors, the vasculopathy compensatory angiogenesis and vasculogenesis are impaired. In this review, we discuss the role of proangiogenic factors – VEGF, PlGF, endoglin, PDGF, endothelin-1, angiopoietins, SDF-1, uPAR – and the paradoxical paucity of an inadequate angiogenic response in SSc.

  10. The role of platelets in the pathogenesis of systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Giuseppe A. eRamirez

    2012-06-01

    Full Text Available Systemic sclerosis (SSc is an inflammatory disease of unknown etiology characterized by widespread organ dysfunction due to fibrosis and ischemia. Its nebulous pathogenic background and the consequent absence of an etiological therapy prevent the adoption of satisfying treatment strategies, able to improve patients' quality of life and survival and stimulate researchers to identify a unifying pathogenic target. Platelets show a unique biological behavior, lying at the crossroads between vascular function, innate and adaptive immunity and regulation of cell proliferation. Consequently they are also emerging players in the pathogenesis of many inflammatory diseases, including systemic sclerosis. In the setting of SSc platelets are detectable in a persistent activated state, which is intimately linked to the concomitant presence of an injured endothelium and to the widespread activation of the innate and adaptive immune system. As a consistent circulating source of bioactive compounds platelets contribute to the development of many characteristic phenomena of SSc, such as fibrosis and impaired vascular tone.

  11. Swallowing difficulties with medication intake assessed with a novel self-report questionnaire in patients with systemic sclerosis – a cross-sectional population study

    Directory of Open Access Journals (Sweden)

    Messerli M

    2017-09-01

    Full Text Available Markus Messerli,1,2 Rebecca Aschwanden,1 Michael Buslau,2 Kurt E Hersberger,1 Isabelle Arnet1 1Pharmaceutical Care Research Group, Department of Pharmaceutical Sciences, University of Basel, Basel, Switzerland; 2European Centre for the Rehabilitation of Scleroderma, Reha Rheinfelden, Rheinfelden, Switzerland Objectives: To assess subjective swallowing difficulties (SD with medication intake and their practical consequences in patients suffering from systemic sclerosis (SSc with a novel self-report questionnaire.Design and setting: Based on a systematic literature review, we developed a self-report questionnaire and got it approved by an expert panel. Subsequently, we sent the questionnaire by post mail to SSc patients of the European Center for the Rehabilitation of Scleroderma Rheinfelden, Switzerland.Participants: Patients were eligible if they were diagnosed with SSc, treated at the center, and were of age ≥18 years at the study start.Main outcome measures: Prevalence and pattern of SD with oral medication intake, including localization and intensity of complaints.Results: The questionnaire consisted of 30 items divided into five sections Complaints, Intensity, Localization, Coping strategies, and Adherence. Of the 64 SSc patients eligible in 2014, 43 (67% returned the questionnaire. Twenty patients reported SD with medication intake (prevalence 47%, either currently (11; 26% or in the past that had been overcome (9; 21%. Self-reported SD were localized mostly in the larynx (43% and esophagus (34%. They were of moderate (45% or strong to unbearable intensity (25%. Modification of the dosage form was reported in 40% of cases with SD. Adherence was poor for 20 (47% patients and was not associated with SD (p=0.148.Conclusion: Our novel self-report questionnaire is able to assess the pattern of complaints linked to medication intake, that is, localization and intensity. It may serve as a guide for health care professionals in selecting the most

  12. Evaluation of the Needs of Patients with Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Ali Dehghani

    2012-09-01

    Full Text Available Background: Multiple sclerosis (MS is a demyelinating disease of the central nervous system that causes many problems in patients. Since training should be done in according to the educational needs, this study is performed to assess the educational needs of MS patients.Materials and Methods: This is a descriptive cross-sectional study, and its tool was a questionnaire on the educational needs of MS patients. Fifty patients referred to the MS society were selected through simple sampling.Results: Based on the obtained results, 60% of patients were female, 52% were single, and 16% were high school undergraduates. Seventy-eight percent of the patients needed training about disease nature, 82% about treatment and care, 46% about nutrition, and 32% about physical activity.Conclusion: The findings showed that patients need more education about treatment and self-care.

  13. [The Multiple Sclerosis Documentation System MSDS. Discussion of a documentation standard for multiple sclerosis].

    Science.gov (United States)

    Pette, M; Eulitz, M

    2002-02-01

    The MSDS (multiple sclerosis documentation system) has been developed at the Department of Neurology, Technical University of Dresden, Germany, during the last 4 years. The first version of this database application has been in use since October 2000. The MSDS manages information on MS patients, their treating physicians, patient history (symptoms, other diseases, biographical history, family history, habits, medication), clinical signs, results of laboratory examinations (blood chemistry, autoantibodies, borrelia serology, evoked potentials, cranial and spinal cord magnetic resonance imaging), clinical scores relevant for MS, and biosamples. In principle, MSDS allows online data input and semiautomatically generates reports to all general practitioners and neurologists treating the respective patient. Patient information sheets and internal treatment guidelines are part of the system. During a 3-month evaluation, the first version of MSDS was tested at eight university multiple sclerosis ambulatory care units and one general neurology hospital. The overall judgement was favorable. Suggestions for changes and improvements, as well as practical experiences, were considered when developing MSDS 2.0, which will be available by the end of 2001.

  14. The value of pattern capillary changes and antibodies to predict the development of systemic sclerosis in patients with primary Raynaud's phenomenon.

    Science.gov (United States)

    Pavlov-Dolijanovic, Slavica R; Damjanov, Nemanja S; Vujasinovic Stupar, Nada Z; Baltic, Snezana; Babic, Dragan D

    2013-12-01

    The aim of this study is to assess the prognostic value of major provisional criteria for the development of systemic sclerosis (SSc) in primary Raynaud's phenomenon (RP) patients. We retrospectively studied the chart of 497 patients with primary RP in whom anticentromere (ACA) and antitopoisomerase I (ATA) antibodies tests and a capillary reading were available. Sensitivity, specificity, positive predictive value, negative predictive value, positive likelihood ratios (LHR+), negative likelihood ratios (LHR-), odds ratio (OR), and area under the receiver operating characteristics curve (AUC) of those criteria were assessed to predict the development of SSc. During the average follow-up of 2.3 ± 1.9 years, 159 (32 %) patients evolved to SSc, 245 (49.3 %) evolved to other connective tissue diseases, and 93 (18.7 %) patients did not progress. The SSc pattern predicted SSc satisfactorily (LHR+ 4.12, LHR- 0.07, OR 63, AUC 0.819; P pattern and ACA or ATA were significantly associated with the development of SSc (LHR+ 2.98, LHR- 0.70, OR 4.2, AUC 0.674; P pattern or ATA as independent risk factors, as well as following two parameters together (SSc pattern and ATA or SSc pattern and ACA) were good predictors for the development of SSc.

  15. Abnormalities of small bowel and colon in systemic sclerosis

    International Nuclear Information System (INIS)

    Scutellari, P.N.; Cinotti, A.; Cavallari, L.; Orzincolo, C.; Dovigo, L.; Trotta, F.; Menegale, G.

    1990-01-01

    A series of 21 subjects (2 males and 19 females) affected with systemic sclerosis, was examined by small bowel (oral and intubation methods) and colon enema. The underlying process responsible for abnormalities in the small bowel and colon in systemic sclerosis is a variable and pacthy destruction of the muscularis propria, that produces the structural and functional changes detected on X-ray: Pathologic condition is the same affecting the esophagus. The scout film of the abdomen often reveals colonic distension and fecal impaction, so that it may be quite difficult to prepare adequately the patients for a barium enema. Peristalsis may be virtually absent in short segments, and transit time may be several time longer than that in normal patients. For these reasons, intestinal pseudo-obstruction may appear in systemic sclerosis. The observed radiographic changes are: 1) in the small bowel: a) dilatation of the gut, especially in its proximal portions (duodenum and jejunum), in which the valvulae conniventes are straightened, normal or thinned; b) presence of diverticula, 2-4 cm in diameter, with hemispherical shape without the neck-like opening into the bowel lumen; 2) in the colon, the characteristic finding is an increase in size of individual haustra, forming sacculations or pseudo-diverticula, usually on the antemesenteric border of the transverse colon, better demonstrated on post-evacuation film. Moreover, loss of colonic haustration is also observed associated to colonic elongation and dilatation

  16. Rhabdomyolysis following interferon-beta treatment in a patient with multiple sclerosis - A case report.

    Science.gov (United States)

    Dalbjerg, Sara Maria; Tsakiri, Anna; Frederiksen, Jette Lautrup

    2016-07-01

    Multiple sclerosis is an inflammatory disease of the central nervous system for which there is currently no cure. Interferon-beta-1-alpha is worldwide one of the most widely used treatments in multiple sclerosis. To our knowledge there is one previous reported case of rhabdomyolysis associated with Interferon-beta treatment. We describe a 30 year old man with relapsing remitting multiple sclerosis who developed rhabdomyolysis and increased creatine kinase following Interferon-beta-1-alpha therapy. After the medication was discontinued, the patient rapidly improved. Clinicians should be aware of the possibility of rhabdomyolysis occurring during Interferon-beta-1-alpha therapy. In cases where patients complain of severe myalgia, and in particular if weakness is reported, creatine kinase activity should be measured to prevent irreversible rhabdomyolysis during Interferon-beta-1-alpha therapy in patients with multiple sclerosis. Copyright © 2016 Elsevier B.V. All rights reserved.

  17. An Update on the Treatment of the Cutaneous Manifestations of Systemic Sclerosis

    Science.gov (United States)

    Vitiello, Magalys; Abuchar, Adriana; Santana, Néstor; Dehesa, Luis

    2012-01-01

    Systemic sclerosis is a connective tissue disorder that affects multiple organs. Although the initial symptoms of the disease are vascular, skin involvement is almost universally present in patients with systemic sclerosis. The presence of Raynaud's phenomenon, progressive thickening of the skin, digital ulcers, and calcinosis all correlate proportionally with disease severity. Since no treatment is available to completely prevent the natural course of the disease, emphasis is often placed on managing symptoms and complications. In this review, the authors focus on the management of each one of the skin manifestations seen in systemic sclerosis, as the dermatologist may facilitate the early recognition and treatment of these complications. PMID:22798974

  18. Comorbidity in US patients with multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Edwards NC

    2018-02-01

    Full Text Available Natalie C Edwards,1 Michael Munsell,2 Joseph Menzin,2 Amy L Phillips3 1Health Services Consulting Corporation (NCE, Boxborough, MA, USA; 2Boston Health Economics, Inc., Waltham, MA, USA; 3EMD Serono, Inc., Rockland, MA, USA Objective: To assess the trends in the prevalence of comorbidities in US patients with multiple sclerosis (MS, and the association of demographic characteristics with the presence of comorbidities. Study design: A retrospective analysis was conducted from a sample of 5 million patients from the IMS Health Real World Data Adjudicated Claims – US database.Methods: Comorbidity in patients with MS was assessed by year (2006–2014, and logistic regression models evaluated the association of age, sex, and region with select comorbidities.Results: The most common comorbidities from 2006 to 2014 were hyperlipidemia and hypertension (25.9%–29.7% of patients within an individual year, followed by gastrointestinal disease (18.4%–21.2% of patients and thyroid disease (12.9%–17.1% of patients. The proportion with a claim for hyperlipidemia increased from 2006 to 2009, was stable from 2009 to 2011, and then declined from 2011 to 2014. The proportion with a claim for hypertension generally increased from 2006 to 2013, then declined from 2013 to 2014. The proportion with a claim for gastrointestinal disease, thyroid disease, and anxiety generally increased from 2006 to 2014. Claims for comorbidities were statistically significantly more likely among older age groups (p<0.05, with the exception of anxiety and alcohol abuse, which were statistically significantly less likely among older age groups. Claims for gastrointestinal disease (OR=0.75, thyroid disease (OR=0.36, chronic lung disease (OR=0.76, arthritis (OR=0.71, anxiety (OR=0.63, and depression (OR=0.69 were statistically significantly less likely among males versus females (all p<0.05. Claims for hyperlipidemia (OR=1.39, hypertension (OR=1.25, diabetes (OR=1.31, and alcohol

  19. Malignancies in Patients with Anti-RNA Polymerase III Antibodies and Systemic Sclerosis: Analysis of the EULAR Scleroderma Trials and Research Cohort and Possible Recommendations for Screening.

    Science.gov (United States)

    Lazzaroni, Maria-Grazia; Cavazzana, Ilaria; Colombo, Enrico; Dobrota, Rucsandra; Hernandez, Jasmin; Hesselstrand, Roger; Varju, Cecilia; Nagy, Gabriella; Smith, Vanessa; Caramaschi, Paola; Riccieri, Valeria; Hachulla, Eric; Balbir-Gurman, Alexandra; Chatelus, Emmanuel; Romanowska-Próchnicka, Katarzyna; Araújo, Ana Carolina; Distler, Oliver; Allanore, Yannick; Airò, Paolo

    2017-05-01

    To analyze the characteristics of anti-RNA polymerase III antibodies (anti-RNAP3)- positive patients with systemic sclerosis (SSc) in the European League Against Rheumatism Scleroderma Trials and Research group (EUSTAR) registry with a focus on the risk of cancer and the characteristics of malignancies, and the aim to provide guidelines about potential cancer screening in these patients. (1) Analysis of the EUSTAR database: 4986 patients with information on their anti-RNAP3 status were included. (2) Case-control study: additional retrospective data, including malignancy history, were queried in 13 participating EUSTAR centers; 158 anti-RNAP3+ cases were compared with 199 local anti-RNAP3- controls, matched for sex, cutaneous subset, disease duration, and age at SSc onset. (3) A Delphi exercise was performed by 82 experts to reach consensus for cancer screening in anti-RNAP3+ patients. In the EUSTAR registry, anti-RNAP3 were associated in multivariable analysis with renal crisis and diffuse cutaneous involvement. In the case-control study, anti-RNAP3 were associated with gastric antral vascular ectasia, rapid progression of skin involvement, and malignancies concomitant to SSc onset (OR 7.38, 95% CI 1.61-33.8). When compared with other anti-RNAP3+ patients, those with concomitant malignancies had older age (p < 0.001) and more frequent diffuse cutaneous involvement (p = 0.008). The Delphi exercise highlighted the need for malignancy screening at the time of diagnosis for anti-RNAP3+ patients and tight followup in the following years. Anti-RNAP3+ patients with SSc have a high risk of concomitant malignancy. These results have implications for clinical practice and suggest regular screening for cancer in anti-RNAP3+ patients.

  20. Bone Health in Patients with Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Vit Zikan

    2011-01-01

    Full Text Available Multiple sclerosis (MS is a gait disorder characterized by acute episodes of neurological defects leading to progressive disability. Patients with MS have multiple risk factors for osteoporotic fractures, such as progressive immobilization, long-term glucocorticoids (GCs treatment or vitamin D deficiency. The duration of motor disability appears to be a major contributor to the reduction of bone strength. The long term immobilization causes a marked imbalance between bone formation and resorption with depressed bone formation and a marked disruption of mechanosensory network of tightly connected osteocytes due to increase of osteocyte apoptosis. Patients with higher level of disability have also higher risk of falls that combined with a bone loss increases the frequency of bone fractures. There are currently no recommendations how to best prevent and treat osteoporosis in patients with MS. However, devastating effect of immobilization on the skeleton in patients with MS underscores the importance of adequate mechanical stimuli for maintaining the bone structure and its mechanical competence. The physical as well as pharmacological interventions which can counteract the bone remodeling imbalance, particularly osteocyte apoptosis, will be promising for prevention and treatment of osteoporosis in patients with MS.

  1. [Development of a telephone survey system for patients with amyotrophic lateral sclerosis using the ALSFRS-R (Japanese version) and application of this system in a longitudinal multicenter study].

    Science.gov (United States)

    Atsuta, Naoki; Watanabe, Hirohisa; Ito, Mizuki; Nakamura, Ryoichi; Senda, Jo; Kato, Shigenori; Sobue, Gen

    2011-05-01

    To investigate the various clinical courses of patients with amyotrophic lateral sclerosis (ALS), we developed a telephone survey system for determining the activities of daily living (ADL) status of patients with ALS. In this system, every 3 months, clinical research coordinators (CRCs) conducted a telephone survey using the flow charts of the revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R; Japanese version). To confirm the reliability of the results of the telephone survey, we compared the scores of 37 ALS patients obtained in the telephone surveys (telephone scores) to the scores obtained during clinical examinations by neurologists (neurologists' scores). The mean (SD) age of the included patients was 62.6 (11.8) years. Eighteen patients answered the surveys themselves, whereas the primary caregivers of 19 patients answered the surveys for the patients. Before the study, we informed the CRCs of the study plan, general knowledge of ALS, procedures of the telephone survey, ethical issues relevant to the study, and requisite considerations for ALS patients and caregivers. The intraclass correlation coefficient (ICC) between the telephone scores and the neurologists' scores in the 37 ALS patients was 0.97 (95% confidence interval [CI], 0.94-0.98). The kappa statistics of 12 questions of the ALSFRS-R between the telephone scores and the neurologists' scores ranged from 0.58 to 0.85. The ICC of the scores of the 18 cases in which the patients answered the telephone questions themselves was 0.96 (95% CI, 0.89-0.98). The ICC of the scores of the 19 cases in which the caregivers answered the telephone questions was 0.97 (95% CI, 0.92-0.99). These results showed a good reliability of the telephone survey, regardless of whether the patients themselves or the caregivers answered telephone questions. In 2006, a longitudinal multicenter study of Japanese ALS patients was initiated called the Japanese Consortium for Amyotrophic Lateral Sclerosis

  2. Capillaroscopy 2016: new perspectives in systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Carmen Pizzorni

    2016-01-01

    Full Text Available Systemic sclerosis (SSc is an autoimmune disorder of unknown aetiology characterized by early impairment of the microvascular system. Nailfold microangiopathy and decreased peripheral blood perfusion are typical clinical aspects of SSc. The best method to evaluate vascular injury is nailfold videocapillaroscopy, which detects peripheral capillary morphology, and classifies and scores the abnormalities into different patterns of microangiopathy. Microangiopathy appears to be the best evaluable predictor of the disease development and has been observed to precede the other symptoms by many years. Peripheral blood perfusion is also impaired in SSc, and there are different methods to assess it: laser Doppler and laser speckle techniques, thermography and other emerging techniques.

  3. Very Early Systemic Sclerosis and Pre-systemic Sclerosis: Definition, Recognition, Clinical Relevance and Future Directions.

    Science.gov (United States)

    Bellando-Randone, Silvia; Matucci-Cerinic, Marco

    2017-09-18

    The approach to systemic sclerosis (SSc) has changed over the years with an increasing focus on the very early diagnosis of the disease. The terminology identifying patients in the early phase of SSc has been significantly confusing in the last three decades. The purpose of this article is to analyze how the concept of "very early SSc" has evolved over the years, which is the role of an early diagnosis and how early treat patients. Several attempts have been made over time, to create more sensitive and specific classification criteria to include the largest number of SSc patients, also in the earliest phase. An algorythm for the very early diagnosis of SSc was identified, diagnostic preliminary criteria proposed, and new 2013 ACR/EULAR SSc classification criteria published, including new items and adding emphasis to the vasculopathic manifestations. True biomarkers that could predict the disease evolution are still missing. Treat or not to treat patients in the earliest phases still remain a dilemma. For the moment, the only feasible clinical strategy in very early SSc remains a tight follow up program to detect in "real time" the early internal organ involvement which may allow an aggressive therapeutic agenda.

  4. Elevated serum levels of macrophage migration inhibitory factor and stem cell growth factor β in patients with idiopathic and systemic sclerosis associated pulmonary arterial hypertension

    Directory of Open Access Journals (Sweden)

    K. Stefanantoni

    2015-03-01

    Full Text Available Pulmonary arterial hypertension (PAH can be idiopathic or secondary to autoimmune diseases, and it represents one of the most threatening complications of systemic sclerosis (SSc. Macrophage migration inhibitory factor (MIF is a pleiotropic cytokine with proinflammatory functions that appears to be involved in the pathogenesis of hypoxia-induced PH. In SSc patients, high serum levels of MIF have been associated with the development of ulcers and PAH. Stem cell growth factor β (SCGF β is a human growth factor that, together with MIF, is involved in the pathogenesis of chronic spinal cord injury. The aim of our study was to measure serum levels of MIF in patients with idiopathic and SSc-associated PAH. We enrolled 13 patients with idiopathic PAH and 15 with SSc-associated PAH. We also selected 14 SSc patients without PAH and 12 normal healthy controls, matched for sex and age. PAH was confirmed by right hearth catheterism (mPAP>25 mmHg. MIF and SCGF β levels were measured by ELISA. We found significantly higher circulating levels of MIF and of SCGF β in patients with idiopathic PAH (P=0.03 and P=0.004 and with PAH secondary to SSc (P=0.018 and P=0.023 compared to SSc patients without PAH. Higher levels of MIF were found in those patients with an higher New York Heart Association (NYHA class (P=0.03. We can hypothesize that MIF and SCGF β are able to play a role in PAH, both idiopathic or secondary, and in the future they may be evaluated as useful biomarkers and prognostic factors for this serious vascular disease.

  5. Elevated serum levels of macrophage migration inhibitory factor and stem cell growth factor β in patients with idiopathic and systemic sclerosis associated pulmonary arterial hypertension.

    Science.gov (United States)

    Stefanantoni, K; Sciarra, I; Vasile, M; Badagliacca, R; Poscia, R; Pendolino, M; Alessandri, C; Vizza, C D; Valesini, G; Riccieri, V

    2015-03-31

    Pulmonary arterial hypertension (PAH) can be idiopathic or secondary to autoimmune diseases, and it represents one of the most threatening complications of systemic sclerosis (SSc). Macrophage migration inhibitory factor (MIF) is a pleiotropic cytokine with proinflammatory functions that appears to be involved in the pathogenesis of hypoxia-induced PH. In SSc patients, high serum levels of MIF have been associated with the development of ulcers and PAH. Stem cell growth factor β (SCGF β) is a human growth factor that, together with MIF, is involved in the pathogenesis of chronic spinal cord injury. The aim of our study was to measure serum levels of MIF in patients with idiopathic and SSc-associated PAH. We enrolled 13 patients with idiopathic PAH and 15 with SSc-associated PAH. We also selected 14 SSc patients without PAH and 12 normal healthy controls, matched for sex and age. PAH was confirmed by right hearth catheterism (mPAP>25 mmHg). MIF and SCGF β levels were measured by ELISA. We found significantly higher circulating levels of MIF and of SCGF β in patients with idiopathic PAH (P=0.03 and P=0.004) and with PAH secondary to SSc (P=0.018 and P=0.023) compared to SSc patients without PAH. Higher levels of MIF were found in those patients with an higher New York Heart Association (NYHA) class (P=0.03). We can hypothesize that MIF and SCGF β are able to play a role in PAH, both idiopathic or secondary, and in the future they may be evaluated as useful biomarkers and prognostic factors for this serious vascular disease.

  6. Poor sleep in patients with multiple sclerosis.

    Science.gov (United States)

    Bøe Lunde, Hanne Marie; Aae, Tommy F; Indrevåg, William; Aarseth, Jan; Bjorvatn, Bjørn; Myhr, Kjell-Morten; Bø, Lars

    2012-01-01

    Poor sleep is a frequent symptom in patients with multiple sclerosis (MS). Sleep may be influenced by MS-related symptoms and adverse effects from immunotherapy and symptomatic medications. We aimed to study the prevalence of poor sleep and the influence of socio-demographic and clinical factors on sleep quality in MS- patients. A total of 90 MS patients and 108 sex-and age- matched controls were included in a questionnaire survey. Sleep complaints were evaluated by Pittsburgh Sleep Quality Index (PSQI) and a global PSQI score was used to separate good sleepers (≤ 5) from poor sleepers (>5). Excessive daytime sleepiness, the use of immunotherapy and antidepressant drugs, symptoms of pain, depression, fatigue and MS-specific health related quality of life were registered. Results were compared between patients and controls and between good and poor sleepers among MS patients. MS patients reported a higher mean global PSQI score than controls (8.6 vs. 6.3, p = 0.001), and 67.1% of the MS patients compared to 43.9% of the controls (p = 0.002) were poor sleepers. Pain (p = 0.02), fatigue (p = 0.001), depression (p = 0.01) and female gender (p = 0.04) were associated with sleep disturbance. Multivariate analyses showed that female gender (p = 0.02), use of immunotherapy (p = 005) and a high psychological burden of MS (p = 0.001) were associated with poor sleep among MS patients. Poor sleep is common in patients with MS. Early identification and treatment of modifiable risk factors may improve sleep and quality of life in MS.

  7. Poor sleep in patients with multiple sclerosis.

    Directory of Open Access Journals (Sweden)

    Hanne Marie Bøe Lunde

    Full Text Available BACKGROUND: Poor sleep is a frequent symptom in patients with multiple sclerosis (MS. Sleep may be influenced by MS-related symptoms and adverse effects from immunotherapy and symptomatic medications. We aimed to study the prevalence of poor sleep and the influence of socio-demographic and clinical factors on sleep quality in MS- patients. METHODS: A total of 90 MS patients and 108 sex-and age- matched controls were included in a questionnaire survey. Sleep complaints were evaluated by Pittsburgh Sleep Quality Index (PSQI and a global PSQI score was used to separate good sleepers (≤ 5 from poor sleepers (>5. Excessive daytime sleepiness, the use of immunotherapy and antidepressant drugs, symptoms of pain, depression, fatigue and MS-specific health related quality of life were registered. Results were compared between patients and controls and between good and poor sleepers among MS patients. RESULTS: MS patients reported a higher mean global PSQI score than controls (8.6 vs. 6.3, p = 0.001, and 67.1% of the MS patients compared to 43.9% of the controls (p = 0.002 were poor sleepers. Pain (p = 0.02, fatigue (p = 0.001, depression (p = 0.01 and female gender (p = 0.04 were associated with sleep disturbance. Multivariate analyses showed that female gender (p = 0.02, use of immunotherapy (p = 005 and a high psychological burden of MS (p = 0.001 were associated with poor sleep among MS patients. CONCLUSIONS: Poor sleep is common in patients with MS. Early identification and treatment of modifiable risk factors may improve sleep and quality of life in MS.

  8. Transforming growth factor-β increases interleukin-13 synthesis via GATA-3 transcription factor in T-lymphocytes from patients with systemic sclerosis.

    Science.gov (United States)

    Baraut, Julie; Farge, Dominique; Jean-Louis, Francette; Masse, Ingrid; Grigore, Elena Ivan; Arruda, Lucas C M; Lamartine, Jérôme; Verrecchia, Franck; Michel, Laurence

    2015-07-31

    Transforming growth factor (TGF)-β and interleukin (IL)-13 play a crucial role in the pathogenesis of systemic sclerosis (SSc), partly through activation of collagen production that leads to fibrosis. The aim of the present study was to determine whether TFG-β alters IL-13 production in T lymphocytes from patients with SSc from that seen in those of healthy donors. IL-13 mRNA and protein synthesis under TFG-β exposure was measured in circulating T lymphocytes from healthy donors and patients with SSc and also in the Jurkat Th2 T-cell line, using quantitative real-time PCR and fluorescence-activated cell sorting analysis, respectively. The involvement of Smad and GATA-3 transcription factors was assessed by using specific inhibitors and small interfering RNA, and the binding capacity of GATA-3 to the IL-13 gene promoter was evaluated by chromatin immunoprecipitation assay. TGF-β induced a significant decrease in IL-13 mRNA and protein levels in lymphocytes from healthy donors (mean [±SD] inhibition of 30% ± 10% and 20% ± 7%, respectively; p T-cell subtypes from patients with SSc, with respective increases of 2.4 ± 0.3-fold, 1.6 ± 0.05-fold and 2.7 ± 0.02-fold. The involvement of the Smad signaling pathway and upregulation of GATA-3 binding capacity on the IL-13 promoter in lymphocytes from patients with SSc contributed to the effect of TGF-β on IL-13 production. These results demonstrate that TGF-β upregulates IL-13 synthesis through GATA-3 expression in the T lymphocytes of patients with SSc, confirming that the GATA-3 transcription factor can be regarded as a novel therapeutic target in patients with SSc.

  9. Pomalidomide in Patients with Interstitial Lung Disease due to Systemic Sclerosis: A Phase II, Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel-group Study.

    Science.gov (United States)

    Hsu, Vivien M; Denton, Christopher P; Domsic, Robyn T; Furst, Daniel E; Rischmueller, Maureen; Stanislav, Marina; Steen, Virginia D; Distler, Jörg H W; Korish, Shimon; Cooper, Alyse; Choi, Suktae; Schafer, Peter H; Horan, Gerald; Hough, Douglas R

    2017-11-01

    To evaluate the safety and efficacy of pomalidomide (POM) on forced vital capacity (FVC), modified Rodnan skin score (mRSS), and gastrointestinal (GI) symptomatology over 52 weeks of treatment in patients with interstitial lung disease due to systemic sclerosis (SSc). Twenty-three adult patients diagnosed with SSc were randomized 1:1 POM:placebo (PBO). Mean change at Week 52 from baseline in predicted FVC% -5.2 and -2.8; mRSS -2.7 and -3.7; and UCLA Scleroderma Clinical Trial Consortium Gastrointestinal Tract (SCTC GIT 2.0) score 0.1 and 0.0, with POM and PBO, respectively. Statistical significance was not achieved for any of these 3 primary endpoints at 52 weeks. Because of recruitment challenges, subject enrollment was discontinued early. In an interim analysis, the study did not meet its Week 52 primary endpoints. Therefore, a decision was made to terminate all study phases. POM was generally well tolerated, with an adverse event profile consistent with the known safety and tolerability profile of POM in other diseases. Study results were neither positive nor negative because too few subjects were enrolled to make meaningful conclusions. Clinical Trials number: NCT01559129.

  10. Incidence and prevalence of systemic sclerosis in Campo Grande, State of Mato Grosso do Sul, Brazil.

    Science.gov (United States)

    Horimoto, Alex Magno Coelho; Matos, Erica Naomi Naka; Costa, Márcio Reis da; Takahashi, Fernanda; Rezende, Marcelo Cruz; Kanomata, Letícia Barrios; Locatelli, Elisangela Possebon Pradebon; Finotti, Leandro Tavares; Maegawa, Flávia Kamy Maciel; Rondon, Rosa Maria Ribeiro; Machado, Natália Pereira; Couto, Flávia Midori Arakaki Ayres Tavares do; Figueiredo, Túlia Peixoto Alves de; Ovidio, Raphael Antonio; Costa, Izaias Pereira da

    Systemic sclerosis is an autoimmune disease which shows extreme heterogeneity in its clinical presentation and that follows a variable and unpredictable course. Although some discrepancies in the incidence and prevalence rates between geographical regions may reflect methodological differences in the definition and verification of cases, they may also reflect true local differences. To determine the prevalence and incidence of systemic sclerosis in the city of Campo Grande, state capital of Mato Grosso do Sul (MS), Brazil, during the period from January to December 2014. All health care services of the city of Campo Grande - MS with attending in the specialty of Rheumatology were invited to participate in the study through a standardized form of clinical and socio-demographic assessment. Physicians of any specialty could report a suspected case of systemic sclerosis, but necessarily the definitive diagnosis should be established by a rheumatologist, in order to warrant the standardization of diagnostic criteria and exclusion of other diseases resembling systemic sclerosis. At the end of the study, 15 rheumatologists reported that they attended patients with systemic sclerosis and sent the completed forms containing epidemiological data of patients. The incidence rate of systemic sclerosis in Campo Grande for the year 2014 was 11.9 per million inhabitants and the prevalence rate was 105.6 per million inhabitants. Systemic sclerosis patients were mostly women, white, with a mean age of 50.58 years, showing the limited form of the disease with a mean duration of the disease of 8.19 years. Regarding laboratory tests, 94.4% were positive for antinuclear antibody, 41.6% for anti-centromere antibody and 19.1% for anti-Scl70; anti-RNA Polymerase III was performed in 37 patients, with 16.2% positive. The city of Campo Grande, the state capital of MS, presented a lower incidence/prevalence of systemic sclerosis in comparison with those numbers found in US studies and close

  11. Immunoglobulins G from Sera of Amyotrophic Lateral Sclerosis Patients Induce Oxidative Stress and Upregulation of Antioxidative System in BV-2 Microglial Cell Line

    OpenAIRE

    Milošević, Milena; Milićević, Katarina; Božić, Iva; Lavrnja, Irena; Stevanović, Ivana; Bijelić, Dunja; Dubaić, Marija; Živković, Irena; Stević, Zorica; Giniatullin, Rashid; Andjus, Pavle

    2017-01-01

    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder with a very fast progression, no diagnostic tool for the presymptomatic phase, and still no effective treatment of the disease. Although ALS affects motor neurons, the overall pathophysiological condition points out to the non-cell autonomous mechanisms, where astrocytes and microglia play crucial roles in the disease progression. We have already shown that IgG from sera of ALS patients (ALS IgG) induce calcium transients and...

  12. [Botulinum toxin type A contribution in the treatment of Raynaud's phenomenon due to systemic sclerosis].

    Science.gov (United States)

    Serri, J; Legré, R; Veit, V; Guardia, C; Gay, A-M

    2013-12-01

    Raynaud's phenomenon is a vasospastic disorder of the extremities that can lead, in the hands, to pain, disability, ischemic ulcers and digital chronic ischemia. Medical and surgical current treatments are not fully effective while causing side effects. Recent studies have emphasized the value of botulinum toxin type A (BTX A) in the management of primary Raynaud's phenomenon. The originality of Raynaud's syndrome secondary to systemic sclerosis is to combine both arterial vasospasm and sclerosis of the arterial wall, what is supposed to reduce BTX A effects. The purpose of this work is to evaluate BTX A efficiency in patients with Raynaud's phenomenon secondary to systemic sclerosis. We performed a prospective study for 12 months. Patients with severe Raynaud's phenomenon due to systemic sclerosis were injected with BTX A in the two hands. Evolution of ischemic ulcers, QuickDASH Score, O2 partial pressure, pain were measured before and 30 days after injection. We treated 18 patients. Thirty days after injection, we noticed a complete healing of ulcers, QuickDASH Score was improved from 39.4 to 20, as the O2 partial pressure from 16 to 42 mmHg and the pain from VNS from 6/10 to 2/10. BTX A appears to improve significantly Raynaud's phenomenon symptomatology in patients with systemic sclerosis despite the component of arterial sclerosis. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  13. Safety and efficacy of subcutaneous tocilizumab in adults with systemic sclerosis (faSScinate) : a phase 2, randomised, controlled trial

    NARCIS (Netherlands)

    Khanna, Dinesh; Denton, Christopher P.; Jahreis, Angelika; van Laar, Jacob M.; Frech, Tracy M.; Anderson, Marina E.; Baron, Murray; Chung, Lorinda; Fierlbeck, Gerhard; Lakshminarayanan, Santhanam; Allanore, Yannick; Pope, Janet E.; Riemekasten, Gabriela; Steen, Virginia; Müller-Ladner, Ulf; Lafyatis, Robert; Stifano, Giuseppina; Spotswood, Helen; Chen-Harris, Haiyin; Dziadek, Sebastian; Morimoto, Alyssa; Sornasse, Thierry; Siegel, Jeffrey; Furst, Daniel E.

    2016-01-01

    Background Systemic sclerosis is a rare disabling autoimmune disease with few treatment options. The efficacy and safety of tocilizumab, an interleukin 6 receptor-α inhibitor, was assessed in the faSScinate phase 2 trial in patients with systemic sclerosis. Methods We did this double-blind,

  14. Effects of Acupuncture on Gait of Patients with Multiple Sclerosis.

    Science.gov (United States)

    Criado, Maria Begoña; Santos, Maria João; Machado, Jorge; Gonçalves, Arminda Manuela; Greten, Henry Johannes

    2017-11-01

    Multiple sclerosis is considered a complex and heterogeneous disease. Approximately 85% of patients with multiple sclerosis indicate impaired gait as one of the major limitations in their daily life. Acupuncture studies found a reduction of spasticity and improvement of fatigue and imbalance in patients with multiple sclerosis, but there is a lack of studies regarding gait. We designed a study of acupuncture treatment, according to the Heidelberg model of Traditional Chinese Medicine (TCM), to investigate if acupuncture can be a useful therapeutic strategy in patients with gait impairment in multiple sclerosis of relapsing-remitting type. The sample consisted of 20 individuals with diagnosis of multiple sclerosis of relapsing-remitting type. Gait impairment was evaluated by the 25-foot walk test. The results showed differences in time to walk 25 feet following true acupuncture. In contrast, there was no difference in time to walk 25 feet following sham acupuncture. When using true acupuncture, 95% of cases showed an improvement in 25-foot walk test, compared with 45% when sham acupuncture was done. Our study protocol provides evidence that acupuncture treatment can be an attractive option for patients with multiple sclerosis, with gait impairment.

  15. Cross-language measurement equivalence of the Center for Epidemiologic Studies Depression (CES-D) scale in systemic sclerosis: a comparison of Canadian and Dutch patients.

    Science.gov (United States)

    Kwakkenbos, Linda; Arthurs, Erin; van den Hoogen, Frank H J; Hudson, Marie; van Lankveld, Wim G J M; Baron, Murray; van den Ende, Cornelia H M; Thombs, Brett D

    2013-01-01

    Increasingly, medical research involves patients who complete outcomes in different languages. This occurs in countries with more than one common language, such as Canada (French/English) or the United States (Spanish/English), as well as in international multi-centre collaborations, which are utilized frequently in rare diseases such as systemic sclerosis (SSc). In order to pool or compare outcomes, instruments should be measurement equivalent (invariant) across cultural or linguistic groups. This study provides an example of how to assess cross-language measurement equivalence by comparing the Center for Epidemiologic Studies Depression (CES-D) scale between English-speaking Canadian and Dutch SSc patients. The CES-D was completed by 922 English-speaking Canadian and 213 Dutch SSc patients. Confirmatory factor analysis (CFA) was used to assess the factor structure in both samples. The Multiple-Indicator Multiple-Cause (MIMIC) model was utilized to assess the amount of differential item functioning (DIF). A two-factor model (positive and negative affect) showed excellent fit in both samples. Statistically significant, but small-magnitude, DIF was found for 3 of 20 items on the CES-D. The English-speaking Canadian sample endorsed more feeling-related symptoms, whereas the Dutch sample endorsed more somatic/retarded activity symptoms. The overall estimate in depression scores between English and Dutch was not influenced substantively by DIF. CES-D scores from English-speaking Canadian and Dutch SSc patients can be compared and pooled without concern that measurement differences may substantively influence results. The importance of assessing cross-language measurement equivalence in rheumatology studies prior to pooling outcomes obtained in different languages should be emphasized.

  16. Cross-language measurement equivalence of the Center for Epidemiologic Studies Depression (CES-D scale in systemic sclerosis: a comparison of Canadian and Dutch patients.

    Directory of Open Access Journals (Sweden)

    Linda Kwakkenbos

    Full Text Available Increasingly, medical research involves patients who complete outcomes in different languages. This occurs in countries with more than one common language, such as Canada (French/English or the United States (Spanish/English, as well as in international multi-centre collaborations, which are utilized frequently in rare diseases such as systemic sclerosis (SSc. In order to pool or compare outcomes, instruments should be measurement equivalent (invariant across cultural or linguistic groups. This study provides an example of how to assess cross-language measurement equivalence by comparing the Center for Epidemiologic Studies Depression (CES-D scale between English-speaking Canadian and Dutch SSc patients.The CES-D was completed by 922 English-speaking Canadian and 213 Dutch SSc patients. Confirmatory factor analysis (CFA was used to assess the factor structure in both samples. The Multiple-Indicator Multiple-Cause (MIMIC model was utilized to assess the amount of differential item functioning (DIF.A two-factor model (positive and negative affect showed excellent fit in both samples. Statistically significant, but small-magnitude, DIF was found for 3 of 20 items on the CES-D. The English-speaking Canadian sample endorsed more feeling-related symptoms, whereas the Dutch sample endorsed more somatic/retarded activity symptoms. The overall estimate in depression scores between English and Dutch was not influenced substantively by DIF.CES-D scores from English-speaking Canadian and Dutch SSc patients can be compared and pooled without concern that measurement differences may substantively influence results. The importance of assessing cross-language measurement equivalence in rheumatology studies prior to pooling outcomes obtained in different languages should be emphasized.

  17. Disease-related and psychosocial factors associated with depressive symptoms in patients with systemic sclerosis, including fear of progression and appearance self-esteem.

    Science.gov (United States)

    Kwakkenbos, Linda; van Lankveld, Wim G J M; Vonk, Madelon C; Becker, Eni S; van den Hoogen, Frank H J; van den Ende, Cornelia H M

    2012-03-01

    The prevalence of depressive symptoms is high in patients with systemic sclerosis (SSc, scleroderma). This study was conducted to determine which disease-related and psychosocial factors are associated with depressive symptoms, independent of sociodemographic factors. In total, 215 patients with SSc completed questionnaires on sociodemographics, physical functioning (HAQ-DI), pain (VAS), fatigue (CIS), psychosocial characteristics (CISS, ICQ, PRQ, ASE, FoP-Q-SF) and depressive symptoms (CES-D). Disease characteristics (disease duration, disease subtype, modified Rodnan Skin Score) were collected. Hierarchical linear regression analyses were conducted to assess associations with depressive symptoms. The mean CES-D score was 12.9 (SD=9.7) and the prevalence of patients scoring>= 16 and>=19 were 32.1% and 25.1%, respectively. The variance explained by sociodemographics and disease characteristics was negligible (R(2)≤.09). Fatigue and pain were independently associated with depressive symptoms (R(2) change=.35). After adding psychological factors (R(2) change=.21), satisfaction with social support, emotion-focused coping and helplessness were also significantly associated with depressive symptoms. Higher fear of progression was associated with more depressive symptoms (P≤.01), and appearance self-esteem showed a marginally significant association (P=.08). Depressive symptoms were common in the present sample of patients with SSc and were independently associated with pain, fatigue, social support, emotion-focused coping, helplessness and fear of progression. Results suggest that, in addition to assessment of disease characteristics, attention should be given also to psychosocial factors found to be associated with depressive symptoms. For the development and trialling of psychological interventions, fear of progression could be an important target. Copyright © 2011 Elsevier Inc. All rights reserved.

  18. [Systemic sclerosis and occupational exposures: About a case in a driller-powderman].

    Science.gov (United States)

    Boulanger, M; Bienvenu, B; Marquignon, M-F; Letourneux, M; Clin, B

    2015-08-01

    Erasmus' syndrome is the association between systemic sclerosis and silica exposure. We report a case of this syndrome in a driller-powderman exposed to silica and nitro compounds contained in explosives. Physiopathology and etiologies of systemic sclerosis are still not well known. However, nitric oxide, a product of nitro compounds metabolism, is involved in the physiopathology of the disease: it seems thus licit to wonder about the consequences of an uncontrolled occupational exposure to nitric oxide on the vascular function, already damaged by systemic sclerosis. To a wider extent, our report highlights the importance of a comprehensive and detailed collection of occupational exposures for patients diagnosed with systemic sclerosis. Copyright © 2014 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  19. [Autoantibodies against centrosomes in a patient with limited systemic sclerosis with ulcera cruris and arteriopathy--case report and review of the literature].

    Science.gov (United States)

    Appel, H; Sieper, J; Golder, W; Hiepe, F; Distler, A; Braun, J

    1997-10-01

    A 63 year old woman developed painful, up to 15 x 7 cm large ulcers on both lower limbs and an acral necrosis on the right big toe. The patient had no symptoms of intermittent claudication, but a history of 40 package years of cigarette smoking. Angiography showed circumscript stenosis of medium-sized vessels, deformed vessel segments, and rarification and obstruction of peripheral vessels. Arterial occlusive disease was diagnosed, and percutaneous transluminal angioplasty (PTA) of the right common iliac artery and both femoral arteries performed. However, despite documented patency of these vessels clinical symptoms worsened. The consulting rheumatologist found a history of Raynaud's syndrome, acral necrosis of the fourth finger of the right hand, sclerodactylia, and microstomia. Capillaroscopy revealed megacapillaries and vessel rarification. High titers of antinuclear antibodies with specificity for centrosomes (1:10240), which have not been described in this context to date, were detected and limited systemic sclerosis of the CREST type was diagnosed. Treatment with iloprost (50 micrograms/day i.v.) and pulsed cyclophosphamide (800 mg i.v./month) resulted in almost complete healing of the crural and digital ulcers and a significant reduction of the analgetic medication.

  20. Factors affecting dignity of patients with multiple sclerosis.

    Science.gov (United States)

    Sharifi, Simin; Borhani, Fariba; Abbaszadeh, Abbas

    2016-12-01

    MS is one of the most common chronic diseases of the nervous system. Apart from disease progression, other complications such as unemployment, separation and divorce could potentially threat patients' dignity. Most of the previous studies have been done of maintaining patients' dignity in interaction with healthcare team, but studies on affecting factors of dignity in chronic patients in the society and in interaction with usual people are scarce. We aimed to investigate factors affecting dignity of Iranian patients with MS in daily living and in interaction of them with the society. In this qualitative study, 13 patients with multiple sclerosis were chosen by purposive sampling and semi-structured interviews were conducted until data saturation. The study was done in Tehran, the capital city of Iran. Factors affecting dignity were classified as 'personal factors' and 'social factors'. Personal factors consist of the following subcategories: patients' communication with self, patients' knowledge, patients' values and beliefs and patients' resources. Social factors include others' communication with patients, social knowledge, social values and beliefs and social resources. Multiple personal and social factors interfere in perceived patient dignity. In fact, interaction between personal and social factors can be influential in final perceived dignity. By focusing on whole aspects of the patients' lives, we can identify dignity-promoting or dignity-threatening factors and help patients maintain their dignity by taking appropriate measures for moderating threatening factors and improving dignity enhancing ones. © 2016 Nordic College of Caring Science.

  1. High-dose erythropoietin in patients with progressive multiple sclerosis

    DEFF Research Database (Denmark)

    Schreiber, Karen; Magyari, Melinda; Sellebjerg, Finn

    2017-01-01

    BACKGROUND: Erythropoietin (EPO) is a part of an endogenous neuroprotective system in the brain and may address pathophysiological mechanisms in progressive multiple sclerosis (MS). OBJECTIVE: To evaluate a treatment effect of EPO on progressive MS. METHODS: This was a single-center, randomized......, double-blind, placebo-controlled phase 2 trial, in which 52 patients with secondary or primary progressive MS were allocated to treatment with recombinant EPO (48,000 IU) or placebo, administered intravenously 17 times during 24 weeks. Patients had an Expanded Disability Status Score (EDSS) from 4 to 6.......5 and clinical progression without relapses in the 2 preceding years. The primary outcome was the change in a composite measure of maximum gait distance, hand dexterity, and cognition from baseline to 24 weeks. RESULTS: A total of 50 patients completed the study. Venesection was performed often...

  2. Oral and periodontal manifestations associated with systemic sclerosis: A case series and review.

    Science.gov (United States)

    Jagadish, Rekha; Mehta, Dhoom Singh; Jagadish, P

    2012-04-01

    Systemic sclerosis is a rare connective tissue disorder with a wide range of oral manifestations. This case series reports significant oral and periodontal changes and also makes an attempt to correlate oral and systemic findings in these patients which enable the clinician for a better diagnosis and evolve a comprehensive treatment plan. Six patients with a known diagnosis of systemic sclerosis were included. After obtaining the patient's informed consent, relevant medical history, oral manifestations including periodontal findings and oral hygiene index simplified index were recorded. In these patients, oral changes included restricted mouth opening and, resorption of the mandible. The periodontal changes observed were gingival recession, absence or minimal gingival bleeding on probing, and widened periodontal ligament space, radiographically. Patients with systemic sclerosis often show wide range of oral manifestations, which is of major concern for the dentist.

  3. Sexual Dysfunction and Incidence of Depression in Multiple Sclerosis Patients

    Science.gov (United States)

    Zavoreo, Iris; Gržinčić, Tihana; Preksavec, Marina; Madžar, Tomislav; Bašić Kes, Vanja

    2016-09-01

    Multiple sclerosis (MS) is one of the most common diseases of the central nervous system and usually occurs at the age when people would be expected to be in the prime of their sexual lives. In everyday practice, sexual dysfunction is underestimated because clinicians mostly concentrate on the classic neurologic deficits and often overlook symptoms that can seriously affect the quality of life. Our study included 98 patients (42 men and 56 women, mean age 35±12 years) with relapse from our MS register, with established diagnosis of relapsing remitting multiple sclerosis according to McDonald criteria. Patients completed the questionnaires (Sexual Satisfaction Scale, SSS and Beck Depression Scale BDS), and underwent neurological assessment (Expanded Disability Status Scale, EDSS). All patients were in the group with EDSS 2 to 4 points (mobile patients). There was no statistically significant difference in BDS and SSS values according to EDSS score. Correlation coefficients were calculated (BDS and SSS) for men (p=0.42) and women (p=0.44), yielding positive correlation. There was no statistically significant difference in BDS and SSS values according to gender, disease duration or immunomodulatory therapy. In our group of patients, despite low EDSS score (fully ambulatory without aid, self sufficient patients) we found positive correlation between sexual dysfunction and depression, showing that even in such patients the quality of life can be decreased. In conclusion, sexual dysfunction and depression are mostly under-recognized by neurologists because they are not part of routine testing; therefore, some additional questionnaires should be used in the evaluation in MS patients, even those with low EDSS score, in order to improve their quality of life.

  4. Information-seeking Behavior and Information Needs in Patients With Amyotrophic Lateral Sclerosis: Analyzing an Online Patient Community.

    Science.gov (United States)

    Oh, Juyeon; Kim, Jung A

    2017-07-01

    A few studies have examined the specific informational needs of the population with amyotrophic lateral sclerosis. The aims of this study were to describe the information-seeking behavior and information needs of patients with amyotrophic lateral sclerosis and their families in Korea by analyzing messages from an online patient community. A total of 1047 messages from the question and answer forum of the "Lou Gehrig's Disease Network" (http://cafe.daum.net/alsfree) from January 2010 to September 2015 were collected. The word frequency, main questions, and asker of the messages were analyzed and coded. Terms such as "hospital," "mother," "father," "gastrostomy," and "ALS" were most frequently identified. The most commonly mentioned main topic was about disease-specific information, while the most frequent subcategory was symptoms or management of symptoms. Other prominent categories concerned information about treatment, rehabilitation, and the medical system. The people who wrote the questions were mostly the son/daughter of patients with amyotrophic lateral sclerosis. Patients with amyotrophic lateral sclerosis and their family members commonly obtained information by posting their inquiries online and have a variety of questions regarding amyotrophic lateral sclerosis in this study. The findings of this study can be used as a base of information for developing educational programs and resources for patients with amyotrophic lateral sclerosis and their families.

  5. Recognizing systemic sclerosis: comparative analysis of various sets of classification criteria.

    Science.gov (United States)

    Romanowska-Próchnicka, Katarzyna; Walczyk, Marcela; Olesińska, Marzena

    2016-01-01

    Systemic sclerosis is a complex disease characterized by autoimmunity, vasculopathy and tissue fibrosis. Although most patients present with some degree of skin sclerosis, which is a distinguishing hallmark, the clinical presentation vary greatly complicating the diagnosis. In this regard, new classification criteria were jointly published in 2013 by American College of Rheumatology (ACR) and European League Against Rheumatism (EULAR). A recent major development in the classification criteria is improved sensitivity, particularly for detecting early disease. The new criteria allow more cases to be classified as having systemic sclerosis (SSc), which leads to earlier treatment. Moreover it is clinically beneficial in preventing the disease progression with its irreversible fibrosis and organ damage. The aim of this review is to give insight into new classification criteria and current trends in the diagnosis of systemic sclerosis.

  6. Clinical and serological features of systemic sclerosis in a multicenter African American cohort: Analysis of the genome research in African American scleroderma patients clinical database.

    Science.gov (United States)

    Morgan, Nadia D; Shah, Ami A; Mayes, Maureen D; Domsic, Robyn T; Medsger, Thomas A; Steen, Virginia D; Varga, John; Carns, Mary; Ramos, Paula S; Silver, Richard M; Schiopu, Elena; Khanna, Dinesh; Hsu, Vivien; Gordon, Jessica K; Gladue, Heather; Saketkoo, Lesley A; Criswell, Lindsey A; Derk, Chris T; Trojanowski, Marcin A; Shanmugam, Victoria K; Chung, Lorinda; Valenzuela, Antonia; Jan, Reem; Goldberg, Avram; Remmers, Elaine F; Kastner, Daniel L; Wigley, Fredrick M; Gourh, Pravitt; Boin, Francesco

    2017-12-01

    Racial differences exist in the severity of systemic sclerosis (SSc). To enhance our knowledge about SSc in African Americans, we established a comprehensive clinical database from the largest multicenter cohort of African American SSc patients assembled to date (the Genome Research in African American Scleroderma Patients (GRASP) cohort).African American SSc patients were enrolled retrospectively and prospectively over a 30-year period (1987-2016), from 18 academic centers throughout the United States. The cross-sectional prevalence of sociodemographic, clinical, and serological features was evaluated. Factors associated with clinically significant manifestations of SSc were assessed using multivariate logistic regression analyses.The study population included a total of 1009 African American SSc patients, comprised of 84% women. In total, 945 (94%) patients met the 2013 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) classification criteria for SSc, with the remaining 64 (6%) meeting the 1980 ACR or CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia) criteria. While 43% were actively employed, 33% required disability support. The majority (57%) had the more severe diffuse subtype and a young age at symptom onset (39.1 ± 13.7 years), in marked contrast to that reported in cohorts of predominantly European ancestry. Also, 1 in 10 patients had a severe Medsger cardiac score of 4. Pulmonary fibrosis evident on computed tomography (CT) chest was present in 43% of patients and was significantly associated with anti-topoisomerase I positivity. 38% of patients with CT evidence of pulmonary fibrosis had a severe restrictive ventilator defect, forced vital capacity (FVC) ≤50% predicted. A significant association was noted between longer disease duration and higher odds of pulmonary hypertension, telangiectasia, and calcinosis. The prevalence of potentially fatal scleroderma renal crisis was

  7. Association of systemic sclerosis and psoriatic arthritis: a case report

    Directory of Open Access Journals (Sweden)

    A. Musio

    2011-09-01

    Full Text Available The association of Systemic Sclerosis (SSc and Psoriatic Arthritis (PsA is unfrequent; only few cases are reported in literature. We describe a case of a patient with SSc following the onset of PsA. The disease begun with tenosynovitis, polyarthritis in association with psoriasis. After two years, Raynaud’s phenomenon and sclerodactyly appeared, and, later, pulmonary interstizial fibrosis and esophageal dysfunction. The existence of a common pathogenesis of the two diseases, SSc and PsA, is discussed.

  8. Oral and periodontal manifestations associated with systemic sclerosis: A case series and review

    Directory of Open Access Journals (Sweden)

    Rekha Jagadish

    2012-01-01

    Full Text Available Systemic sclerosis is a rare connective tissue disorder with a wide range of oral manifestations. This case series reports significant oral and periodontal changes and also makes an attempt to correlate oral and systemic findings in these patients which enable the clinician for a better diagnosis and evolve a comprehensive treatment plan. Six patients with a known diagnosis of systemic sclerosis were included. After obtaining the patient′s informed consent, relevant medical history, oral manifestations including periodontal findings and oral hygiene index simplified index were recorded. In these patients, oral changes included restricted mouth opening and, resorption of the mandible. The periodontal changes observed were gingival recession, absence or minimal gingival bleeding on probing, and widened periodontal ligament space, radiographically. Patients with systemic sclerosis often show wide range of oral manifestations, which is of major concern for the dentist.

  9. Improved patient-reported health impact of multiple sclerosis

    DEFF Research Database (Denmark)

    Macdonell, Richard; Nagels, Guy; Laplaud, David-Axel

    2016-01-01

    BACKGROUND: Multiple sclerosis (MS) is a debilitating disease that negatively impacts patients' lives. OBJECTIVE: ENABLE assessed the effect of long-term prolonged-release (PR) fampridine (dalfampridine extended release in the United States) treatment on patient-perceived health impact in patient...

  10. [Prevalence of macrovascular arterial involvement of the 4 limbs in systemic sclerosis: About a case series of 14 patients].

    Science.gov (United States)

    Watelet, B; Jeancolas, J; Lanéelle, D; Bienvenu, B; Le Hello, C

    2017-07-01

    Trophic disorders of the extremities are a common complication of systemic sclerosis (SSc), mainly related to microvascular damage. However, SSc seems to be a risk factor for premature athero-thrombotic disease that can affect the peripheral arteries, participate in the occurrence of trophic disorders and promote the occurrence of infectious complications. The objective of this study was to assess the prevalence of arterial disease of the limbs in SSc patients. Consecutive inclusions in the context of a multidisciplinary consultation centered on disability of the hand with collection of clinical data [cardiovascular risk factors (CVRF), history of trophic disorders of ischemic origin, peripheral pulse palpation, Allen maneuver the upper (UL) and lower limbs (LL)], and hemodynamic data (flow recorded by Doppler in radial, ulnar, anterior and posterior tibial arteries, and measurement of systolic indices ankles). Fourteen patients were included (11 right-handers, 2 left-handers, 1 ambidextrous). The sex-ratio male/female was 0.27 and the average age of 58.1±10.4 years. The main CVRF were age and smoking. In the UL, 42.8% of patients had a history of trophic disorders, Allen maneuver was abnormal for 35.7% of the superficial palmar arch, 42.9% of ulnar pulse were not perceived and there was no recordable flow in 25% of ulnar artery. In the LL, 14.3% of patients had already presented trophic disorders toes, Allen maneuver was abnormal for 15.4% of the posterior tibial artery, 25.6% of posterior tibial pulse were not perceived and flow of 15.4% of posterior tibial arteries was pathological. The distal macrovascular disease preferentially affecting the ulnar and posterior tibial arteries with a high frequency to the UL and two times less at LL. The pathophysiology is unclear but it could be a proper manifestation of SSc. It seems necessary that SSc patients have a strict balance of their CVRF and a screening of macrovascular arterial lesions. There is also the question

  11. The Vascular Microenvironment and Systemic Sclerosis

    Directory of Open Access Journals (Sweden)

    Tracy Frech

    2010-01-01

    Full Text Available The role of the vascular microenvironment in the pathogenesis Systemic Sclerosis (SSc is appreciated clinically as Raynaud's syndrome with capillary nail bed change. This manifestation of vasculopathy is used diagnostically in both limited and diffuse cutaneous subsets of SSc, and is thought to precede fibrosis. The degree of subsequent fibrosis may also be determined by the vascular microenvironment. This paper describes why the vascular microenvironment might determine the degree of end-organ damage that occurs in SSc, with a focus on vascular cell senescence, endothelial progenitor cells (EPC including multipotential mesenchymal stem cells (MSC, pericytes, and angiogenic monocytes. An explanation of the role of EPC, pericytes, and angiogenic monocytes is important to an understanding of SSc pathogenesis. An evolving understanding of the vascular microenvironment in SSc may allow directed treatment.

  12. Color blindness among multiple sclerosis patients in Isfahan

    Directory of Open Access Journals (Sweden)

    Vahid Shaygannejad

    2012-01-01

    Full Text Available Background: Multiple sclerosis (MS is a disease of young and middle aged individuals with a demyelinative axonal damage nature in central nervous system that causes various signs and symptoms. As color vision needs normal function of optic nerve and macula, it is proposed that MS can alter it via influencing optic nerve. In this survey, we evaluated color vision abnormalities and its relationship with history of optic neuritis and abnormal visual evoked potentials (VEPs among MS patients. Materials and Methods: The case group was included of clinically definitive MS patients and the same number of normal population was enrolled as the control group. Color vision of all the participants was evaluated by Ishihara test and then visual evoked potential (VEPs and history of optic neuritis (ON was assessed among them. Then, frequency of color blindness was compared between the case and the control group. Finally, color blinded patients were compared to those with the history of ON and abnormal VEPs. Results: 63 MS patients and the same number of normal populations were enrolled in this study. 12 patients had color blindness based on the Ishihara test; only 3 of them were among the control group, which showed a significant different between the two groups (P = 0.013. There was a significant relationship between the color blindness and abnormal VEP (R = 0.53, P = 0.023 but not for the color blindness and ON (P = 0.67. Conclusions: This study demonstrates a significant correlation between color blindness and multiple sclerosis including ones with abnormal prolonged VEP latencies. Therefore, in individuals with acquired color vision impairment, an evaluation for potentially serious underlying diseases like MS is essential.

  13. Increased Expression and Modulated Regulatory Activity of Coinhibitory Receptors PD-1, TIGIT, and TIM-3 in Lymphocytes From Patients With Systemic Sclerosis.

    Science.gov (United States)

    Fleury, Michelle; Belkina, Anna C; Proctor, Elizabeth A; Zammitti, Christopher; Simms, Robert W; Lauffenburger, Douglas A; Snyder-Cappione, Jennifer E; Lafyatis, Robert; Dooms, Hans

    2018-04-01

    Immune dysfunction is an important component of the disease process underlying systemic sclerosis (SSc), but the mechanisms contributing to altered immune cell function in SSc remain poorly defined. This study was undertaken to measure the expression and function of the coinhibitory receptors (co-IRs) programmed cell death 1 (PD-1), T cell immunoglobulin and ITIM domain (TIGIT), T cell immunoglobulin and mucin domain 3 (TIM-3), and lymphocyte activation gene 3 (LAG-3) in lymphocyte subsets from the peripheral blood of patients with SSc. Co-IR expression levels on subsets of immune cells were analyzed using a 16-color flow cytometry panel. The functional role of co-IRs was determined by measuring cytokine production after in vitro stimulation of SSc and healthy control peripheral blood mononuclear cells (PBMCs) in the presence of co-IR-blocking antibodies. Supernatants from cultures of stimulated PBMCs were added to SSc fibroblasts, and their impact on fibroblast gene expression was measured. Mathematical modeling was used to reveal differences between co-IR functions in SSc patients and healthy controls. Levels of the co-IRs PD-1 and TIGIT were increased, and each was coexpressed, in distinct T cell subsets from SSc patients compared to healthy controls. Levels of TIM-3 were increased in SSc natural killer cells. PD-1, TIGIT, and TIM-3 antibody blockade revealed patient-specific roles of each of these co-IRs in modulating activation-induced T cell cytokine production. In contrast to healthy subjects, blockade of TIGIT and TIM-3, but not PD-1, failed to reverse inhibited cytokine production in SSc patients, indicating that enhanced T cell exhaustion is present in SSc. Finally, cytokines secreted in anti-TIM-3-treated PBMC cultures distinctly changed the gene expression profile in SSc fibroblasts. The altered expression and regulatory capacity of co-IRs in SSc lymphocytes may contribute to disease pathophysiology by modulating the cytokine-mediated cross-talk of

  14. Coping strategies and mood profiles in patients with multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Aysel Milanlioglu

    2014-07-01

    Full Text Available Objective: The aim of the present study was to investigate the coping strategies, mood characteristics and the association between these aspects in patients diagnosed with multiple sclerosis and healthy subjects. Method: Fifty consecutive patients who were diagnosed with multiple sclerosis according to McDonald criteria and thirty-one healthy subjects were included in the study. In addition to the sociodemographic form, Expanded Disability Status Scale (EDSS, Coping Orientation for Problem Experiences Scale (COPE, and Profile of Mood States (POMS tests were applied to the participants. Results: Non-functional coping strategies were significantly higher in the secondary-progressive type (p≤0.05. Depression-dejection, fatigue-inertia and total POMS scores were significantly higher in the secondary-progressive type (p≤0.05. Conclusion: The results of our study demonstrate the importance of rehabilitation programs that encourage exercise among patients with multiple sclerosis to increase vigor-activity levels.

  15. Experimentally-derived fibroblast gene signatures identify molecular pathways associated with distinct subsets of systemic sclerosis patients in three independent cohorts.

    Directory of Open Access Journals (Sweden)

    Michael E Johnson

    Full Text Available Genome-wide expression profiling in systemic sclerosis (SSc has identified four 'intrinsic' subsets of disease (fibroproliferative, inflammatory, limited, and normal-like, each of which shows deregulation of distinct signaling pathways; however, the full set of pathways contributing to this differential gene expression has not been fully elucidated. Here we examine experimentally derived gene expression signatures in dermal fibroblasts for thirteen different signaling pathways implicated in SSc pathogenesis. These data show distinct and overlapping sets of genes induced by each pathway, allowing for a better understanding of the molecular relationship between profibrotic and immune signaling networks. Pathway-specific gene signatures were analyzed across a compendium of microarray datasets consisting of skin biopsies from three independent cohorts representing 80 SSc patients, 4 morphea, and 26 controls. IFNα signaling showed a strong association with early disease, while TGFβ signaling spanned the fibroproliferative and inflammatory subsets, was associated with worse MRSS, and was higher in lesional than non-lesional skin. The fibroproliferative subset was most strongly associated with PDGF signaling, while the inflammatory subset demonstrated strong activation of innate immune pathways including TLR signaling upstream of NF-κB. The limited and normal-like subsets did not show associations with fibrotic and inflammatory mediators such as TGFβ and TNFα. The normal-like subset showed high expression of genes associated with lipid signaling, which was absent in the inflammatory and limited subsets. Together, these data suggest a model by which IFNα is involved in early disease pathology, and disease severity is associated with active TGFβ signaling.

  16. Absence of an association between anti-Ro antibodies and prolonged QTc interval in systemic sclerosis: a multicenter study of 689 patients.

    Science.gov (United States)

    Massie, Charles; Hudson, Marie; Tatibouet, Solène; Steele, Russell; Huynh, Thao; Fritzler, Marvin J; Baron, Murray; Pineau, Christian A

    2014-12-01

    To examine the association between anti-Ro antibodies, namely anti-Ro60/SS-A and anti-Ro52/TRIM21, together and separately, and a prolonged QT interval corrected for heart rate (QTc) in systemic sclerosis (SSc) patients. A total of 689 SSc patients enrolled in a multicenter cohort study underwent a 12-lead resting EKG at baseline. The QTc interval was measured, and a QTc ≥ 440ms was considered prolonged. Detailed clinical data and sera of these patients were collected and positivity for anti-Ro60/SS-A and anti-Ro52/TRIM21 antibodies was determined using an addressable laser bead immunoassay (ALBIA). QTc prolongation was common in this SSc cohort (25%). In a univariate analysis, Ro antibodies, together or separately, were not associated with prolongation of the QTc interval [mean difference in QTc in anti-Ro antibody positive versus negative subjects was -2.2ms (p = 0.5748), in anti-Ro60/SS-A antibody positive versus negative subjects was 1.3ms (p = 0.8616), and in anti-Ro52/TRIM21 antibody positive versus negative subjects was -3.3ms (p = 0.4106)]. In a multivariate logistic regression analysis adjusting for possible confounders, there was no association between prolonged QTc and anti-Ro antibodies [odds ratio (OR) = 0.74, 95% confidence interval (CI): 0.45, 1.22], anti-Ro60/SS-A antibodies (OR = 1.57, 95% CI: 0.72, 3.41), and anti-Ro52/TRIM21 antibodies (OR = 0.76, 95% CI: 0.46, 1.26). However, in both univariate and multivariate analyses, QTc prolongation was associated with longer disease duration, greater disease severity, and the presence of anti-RNA polymerase III antibodies. QTc prolongation is common in SSc, although anti-Ro antibodies do not seem to be associated with it as is the case in systemic lupus erythematosus. The reasons for this difference as well as the cause of abnormalities in cardiac repolarization in SSc will require additional studies. Copyright © 2014 Elsevier Inc. All rights reserved.

  17. The role of information system in multiple sclerosis management

    Science.gov (United States)

    Ajami, Sima; Ahmadi, Golchehreh; Etemadifar, Masoud

    2014-01-01

    Multiple sclerosis (MS) is a chronic disease of central nervous system. The multiple sclerosis information system (MSIS), such as other information system (IS), depends on identification, collection and processing of data for producing useful information. Lack of the integrated IS for collecting standard data causes undesirable effects on exchanging, comparing, and managing. The aim of this study was to recognize the role of the IS in the MS management and determine the advantages and barriers in implementing of the MSIS. The present study was a nonsystematized review that was done in order to recognize the role of the IS in the MS management. In this study, electronic scientific resources such as scientific magazines and books and published topics at conferences were used. We used key words (IS, chronic disease management, and multiple sclerosis), their combination or their synonyms in title, key words, abstracts, and text of English articles and published reports from 1980 until 2013, and by using search engines such as Google, Google Scholar and scientific databases and electronic issues such as iPubMed, sufficiently important difference, Scopus, Medlib, and Magiran for gathering information. More than 200 articles and reports were collected and assessed and 139 of them. Findings showed that the MSIS can reduce of disease expenses through continuously collecting correct, accurate, sufficient, and timely patients and disease nature information; recoding; editing; processing; exchanging, and distributing among different health care centers. Although the MSIS has many advantages; but, we cannot ignore cultural, economic, technical, organizational, and managerial barriers. Therefore, it is necessary to do studies for preventing, reducing, and controlling them. One of the ways is to recognize the advantages of the MSIS and usage information technology in optimizing disease management. PMID:25709660

  18. The role of information system in multiple sclerosis management.

    Science.gov (United States)

    Ajami, Sima; Ahmadi, Golchehreh; Etemadifar, Masoud

    2014-12-01

    Multiple sclerosis (MS) is a chronic disease of central nervous system. The multiple sclerosis information system (MSIS), such as other information system (IS), depends on identification, collection and processing of data for producing useful information. Lack of the integrated IS for collecting standard data causes undesirable effects on exchanging, comparing, and managing. The aim of this study was to recognize the role of the IS in the MS management and determine the advantages and barriers in implementing of the MSIS. The present study was a nonsystematized review that was done in order to recognize the role of the IS in the MS management. In this study, electronic scientific resources such as scientific magazines and books and published topics at conferences were used. We used key words (IS, chronic disease management, and multiple sclerosis), their combination or their synonyms in title, key words, abstracts, and text of English articles and published reports from 1980 until 2013, and by using search engines such as Google, Google Scholar and scientific databases and electronic issues such as iPubMed, sufficiently important difference, Scopus, Medlib, and Magiran for gathering information. More than 200 articles and reports were collected and assessed and 139 of them. Findings showed that the MSIS can reduce of disease expenses through continuously collecting correct, accurate, sufficient, and timely patients and disease nature information; recoding; editing; processing; exchanging, and distributing among different health care centers. Although the MSIS has many advantages; but, we cannot ignore cultural, economic, technical, organizational, and managerial barriers. Therefore, it is necessary to do studies for preventing, reducing, and controlling them. One of the ways is to recognize the advantages of the MSIS and usage information technology in optimizing disease management.

  19. Progressive Systemic sclerosis, manifested like malabsorption syndrome. Case report

    International Nuclear Information System (INIS)

    Ortiz Piza, Gabriel Jaime; Gonzalez Vasquez, Carlos Mario

    2005-01-01

    We report the case of a 32 year old woman whose first manifestation of systemic sclerosis was malabsorption syndrome. The small bowel series was the clue to the diagnosis, confirmed by laboratory tests and progression of the disease

  20. Multiple Sclerosis in the Contemporary Age: Understanding the Millennial Patient with Multiple Sclerosis to Create Next-Generation Care.

    Science.gov (United States)

    Hansen, Madison R; Okuda, Darin T

    2018-02-01

    The average age of onset of multiple sclerosis (MS) is between 20 and 40 years of age. Therefore, most new patients diagnosed with MS within the next 10 to 15 years will be from the millennial generation, representing those born between 1982 and 2000. Certain preferences and trends of this contemporary generation will present new challenges to the MS physician and effective MS care. By first understanding these challenges, relevant and successful solutions can be created to craft a system of care that best benefits the millennial patient with MS. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Imaging features of encapsulating peritoneal sclerosis in continuous ambulatory peritoneal dialysis patients.

    LENUS (Irish Health Repository)

    Ti, Joanna P

    2010-07-01

    OBJECTIVE: The purpose of this article is to present the spectrum of radiologic findings of encapsulating peritoneal sclerosis in patients undergoing continuous ambulatory peritoneal dialysis (CAPD). CONCLUSION: Although a rare diagnosis, encapsulating peritoneal sclerosis in patients undergoing CAPD has a high morbidity and mortality. Diagnosis is often delayed because clinical features are insidious and nonspecific. Radiologic imaging may be helpful in the early diagnosis of encapsulating peritoneal sclerosis and in facilitating timely intervention for CAPD patients with encapsulating peritoneal sclerosis.

  2. Prediction of worsening of skin fibrosis in patients with diffuse cutaneous systemic sclerosis using the EUSTAR database.

    Science.gov (United States)

    Maurer, Britta; Graf, Nicole; Michel, Beat A; Müller-Ladner, Ulf; Czirják, László; Denton, Christopher P; Tyndall, Alan; Metzig, Carola; Lanius, Vivian; Khanna, Dinesh; Distler, Oliver

    2015-06-01

    To identify predictive parameters for the progression of skin fibrosis within 1 year in patients with diffuse cutaneous SSc (dcSSc). An observational study using the EUSTAR database was performed. Inclusion criteria were dcSSc, American College of Rheumatology (ACR) criteria fulfilled, modified Rodnan skin score (MRSS) ≥7 at baseline visit, valid data for MRSS at 2nd visit, and available follow-up of 12±2 months. Worsening of skin fibrosis was defined as increase in MRSS >5 points and ≥25% from baseline to 2nd visit. In the univariate analysis, patients with progressive fibrosis were compared with non-progressors, and predictive markers with panalysis. The prediction models were then validated in a second cohort. A total of 637 dcSSc patients were eligible. Univariate analyses identified joint synovitis, short disease duration (≤15 months), short disease duration in females/patients without creatine kinase (CK) elevation, low baseline MRSS (≤22/51), and absence of oesophageal symptoms as potential predictors for progressive skin fibrosis. In the multivariate analysis, by employing combinations of the predictors, 17 models with varying prediction success were generated, allowing cohort enrichment from 9.7% progressive patients in the whole cohort to 44.4% in the optimised enrichment cohort. Using a second validation cohort of 188 dcSSc patients, short disease duration, low baseline MRSS and joint synovitis were confirmed as independent predictors of progressive skin fibrosis within 1 year resulting in a 4.5-fold increased prediction success rate. Our study provides novel, evidence-based criteria for the enrichment of dcSSc cohorts with patients who experience worsening of skin fibrosis which allows improved clinical trial design. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  3. CHANGES OF ACTIVITY INDEX AND TOTAL SEVERITY INDEX IN PATIENTS WITH SYSTEMIC SCLEROSIS AND INTERSTITIAL LUNG DISEASE OVER A 5-YEAR FOLLOW-UP PERIOD

    Directory of Open Access Journals (Sweden)

    O. B. Ovsyannikova

    2016-01-01

    Full Text Available Systemic sclerosis (SS is a systemic disease, the basis for which is microcirculatory disorders, inflammation, and generalized fibrosis. Interstitial lung disease (ILD is one of the primary manifestations of SS. Assessment of SS activity and severity is hindered as it is very difficult to differentiate fibrous and inflammatory changes that are mostly interrelated and have a similar picture.Objective: to estimate activity index (AI and total severity index (TSI for the follow-up of SS patients with different variants of ILD. Subjects and methods. The investigation enrolled 77 patients with SS and ILD, who were followed up at the V.A. Nasonova Research Institute of Rheumatology; their mean age at inclusion was 46±13 years. All the patients underwent high-resolution computed tomography (HRCT of the chest and determination of TSI and AI scores at baseline and after an average of 59±12 months. According to the time course of HRCT revealed pulmonary changes over a 5-year follow-up, the patients were divided into 3 groups: 1 patients with improvement (n=16; 2 those without changes (n=39; 3 those with deterioration (n=22. The disease was regarded as active with AI scores of ≥3.Results and discussion. The mean AI scores for the entire patient cohort were low and substantially unchanged during the follow-up period, amounting to 2.1±1.55 and 2.37±1.55 (p > 0.05 at the start and at the end of the investigation, respectively. Following 5 years, only Group 3 showed AI scores of > 3. At inclusion, the groups did not differ in AI scores; however, 5 years later AI became significantly higher in Group 3 than that in Groups 1 and 2 (p = 0.004 and p=0.03, respectively. During the follow-up, TSI remained substantially unchanged and averaged 6.5±2.5 and 6.9±2.3 at inclusion and at the end of the investigation, respectively. Moreover, TSI tended to decline in Groups 1 and 2; but it significantly increased in Group 3 (p = 0.006 and at the end of the

  4. Sacral nerve stimulation for faecal incontinence due to systemic sclerosis

    Science.gov (United States)

    Kenefick, N J; Vaizey, C J; Nicholls, R J; Cohen, R; Kamm, M A

    2002-01-01

    Background: Faecal incontinence occurs in over one third of patients with systemic sclerosis. The aetiology is multifactorial. Conventional treatment is often unsuccessful. Sacral nerve stimulation is a new effective treatment for resistant faecal incontinence. Aims: To evaluate sacral nerve stimulation in patients with systemic sclerosis. Patients: Five women, median age 61 years (30–71), with scleroderma associated faecal incontinence were evaluated. All had failed maximal conventional treatment. Median number of preoperative weekly episodes of incontinence was 15 (7–25), median duration of incontinence was five years (5–9), and scleroderma 13 years (4–29). Methods: All patients were screened with temporary stimulation. Those who benefited underwent permanent implantation. At baseline and after stimulation a bowel diary, the SF-36 quality of life assessment, endoanal ultrasound, and anorectal physiology were performed. Results: Four patients were continent at a median follow up of 24 months (6–60). One patient failed temporary stimulation and was not permanently implanted. The weekly episodes of incontinence decreased from 15, 11, 23, and 7 to 0. Urgency resolved (median time to defer <1 minute (0–1) v 12.5 minutes (5–15)). Quality of life, especially social function, improved. Endoanal ultrasound showed an atrophic internal anal sphincter (median width 1.0 mm (0–1.6)). Anorectal physiology showed an increase in median resting pressure (37 pre v 65 cm H2O post) and squeeze pressure (89 v 105 cm H2O). Stimulation produced enhanced rectal sensitivity to distension. There were no major complications. Conclusions: Sacral nerve stimulation is a safe and effective treatment for resistant faecal incontinence secondary to scleroderma. The benefit is maintained in the medium term. PMID:12427794

  5. Rhabdomyolysis following interferon-beta treatment in a patient with multiple sclerosis

    DEFF Research Database (Denmark)

    Dalbjerg, Sara Maria; Tsakiri, Anna; Fredriksen, Jette Lautrup

    2016-01-01

    Background Multiple sclerosis is an inflammatory disease of the central nervous system for which there is currently no cure. Interferon-beta-1-alpha is worldwide one of the most widely used treatments in multiple sclerosis. To our knowledge there is one previous reported case of rhabdomyolysis...... associated with Interferon-beta treatment. Case presentation We describe a 30 year old man with relapsing remitting multiple sclerosis who developed rhabdomyolysis and increased creatine kinase following Interferon-beta-1-alpha therapy. After the medication was discontinued, the patient rapidly improved....... Conclusion Clinicians should be aware of the possibility of rhabdomyolysis occurring during Interferon-beta-1-alpha therapy. In cases where patients complain of severe myalgia, and in particular if weakness is reported, creatine kinase activity should be measured to prevent irreversible rhabdomyolysis during...

  6. Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

    NARCIS (Netherlands)

    A.M.W. van den Ouweland (Ans)

    2011-01-01

    textabstractTuberous sclerosis complex (TSC), an autosomal dominant disorder, is a multisystem disease with manifestations in the central nervous system, kidneys, skin and/or heart. Most TSC patients carry a pathogenic mutation in either TSC1 or TSC2. All types of mutations, including large

  7. Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

    NARCIS (Netherlands)

    Ouweland, A.M. van den; Elfferich, P.; Zonnenberg, B.A.; Arts, W.F.M.; Kleefstra, T.; Nellist, M.D.; Millan, J.M.; Withagen-Hermans, C.; Maat-Kievit, A.J.; Halley, D.J.

    2011-01-01

    Tuberous sclerosis complex (TSC), an autosomal dominant disorder, is a multisystem disease with manifestations in the central nervous system, kidneys, skin and/or heart. Most TSC patients carry a pathogenic mutation in either TSC1 or TSC2. All types of mutations, including large rearrangements,

  8. Prevalence of malnutrition and validation of bioelectrical impedance analysis for the assessment of body composition in patients with systemic sclerosis.

    Science.gov (United States)

    Spanjer, Moon J; Bultink, Irene E M; de van der Schueren, Marian A E; Voskuyl, Alexandre E

    2017-06-01

    The aims were to assess the prevalence of malnutrition and to validate bioelectrical impedance analysis (BIA) against whole-body DXA for the assessment of body composition in patients with SSc. Malnutrition was defined as BMI 10% in combination with a fat-free mass index (FFMI) 70 years). Body composition was assessed in 72 patients with whole-body DXA (Hologic, Discovery A) and BIA (Bodystat Quadscan 400). The manufacturer's equation and the Geneva equation were used to estimate FFM and fat mass. The agreement between BIA and whole-body DXA was assessed with Bland-Altman analysis and intraclass correlation coefficient. Malnutrition was found in 8.3% (n = 6) and low FFMI in 20.8% (n = 15) of patients. The mean difference in FFM between BIA and DXA applying the Geneva equation was 0.02 ( s . d . 2.4) kg, intraclass correlation coefficient 0.97 (95% CI: 0.95, 0.98). Limits of agreement were ±4.6 kg. The manufacturer's equation was less adequate to predict FFM. This study shows a relatively low prevalence of malnutrition in comparison with other studies, but a high prevalence of low FFMI, underlining the necessity of measuring body composition in SSc patients with a standardized and validated method. A good validity of BIA in determining FFM was found at a group level, while at an individual level the FFM may vary by 4.6 kg. © The Author 2017. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com

  9. L-selectin and skin damage in systemic sclerosis.

    Directory of Open Access Journals (Sweden)

    James V Dunne

    Full Text Available L-selectin ligands are induced on the endothelium of inflammatory sites. L-selectin expression on neutrophils and monocytes may mediate the primary adhesion of these cells at sites of inflammation by mediating the leukocyte-leukocyte interactions that facilitate their recruitment. L-selectin retains functional activity in its soluble form. Levels of soluble L-selectin have been reported as both elevated and lowered in patients with systemic sclerosis (SSc. This preliminary study seeks to discern amongst these disparate results and to discover whether there is an association between L-selectin concentrations in plasma and skin damage in SSc patients.Nineteen cases with limited systemic sclerosis (lSSc and 11 cases with diffuse systemic sclerosis (dSSc were compared on a pairwise basis to age- and sex-matched controls. Criteria of the American College of Rheumatology were used to diagnose SSc. Skin involvement was assessed using the modified Rodnan skin score (mRSS. We find no association between mRSS and plasma L-selectin concentration in lSSc cases (p = 0.9944 but a statistically significant negative correlation in dSSc cases (R(2 = 73.11 per cent, p = 0.0008. The interpretation of the slope for dSSc cases is that for each increase of 100 ng/ml in soluble L-selectin concentration, the mRSS drops 4.22 (95 per cent CI: 2.29, 6.16. There was also a highly statistically significant negative correlation between sL-selectin and disease activity (p = 0.0007 and severity (p = 0.0007 in dSSc cases but not in lSSc cases (p = 0.2596, p = 0.7575, respectively.No effective treatments exist for skin damage in SSc patients. Nor is there a laboratory alternative to the modified Rodnan skin score as is the case for other organs within the body. Modulation of circulating L-selectin is a promising target for reducing skin damage in dSSc patients. Plasma levels of soluble L-selectin could serve as an outcome measure for dSSc patients in

  10. Gallium-67 uptake by the thyroid associated with progressive systemic sclerosis

    International Nuclear Information System (INIS)

    Sjoberg, R.J.; Blue, P.W.; Kidd, G.S.

    1989-01-01

    Although thyroidal uptake of gallium-67 has been described in several thyroid disorders, gallium-67 scanning is not commonly used in the evaluation of thyroid disease. Thyroidal gallium-67 uptake has been reported to occur frequently with subacute thyroiditis, anaplastic thyroid carcinoma, and thyroid lymphoma, and occasionally with Hashimoto's thyroiditis and follicular thyroid carcinoma. A patient is described with progressive systemic sclerosis who, while being scanned for possible active pulmonary involvement, was found incidentally to have abnormal gallium-67 uptake only in the thyroid gland. Fine needle aspiration cytology of the thyroid revealed Hashimoto's thyroiditis. Although Hashimoto's thyroiditis occurs with increased frequency in patients with progressive systemic sclerosis, thyroidal uptake of gallium-67 associated with progressive systemic sclerosis has not, to our knowledge, been previously described. Since aggressive thyroid malignancies frequently are imaged by gallium-67 scintigraphy, fine needle aspiration cytology of the thyroid often is essential in the evaluation of thyroidal gallium-67 uptake

  11. Immunoglobulins G from Sera of Amyotrophic Lateral Sclerosis Patients Induce Oxidative Stress and Upregulation of Antioxidative System in BV-2 Microglial Cell Line

    Directory of Open Access Journals (Sweden)

    Milena Milošević

    2017-11-01

    Full Text Available Amyotrophic lateral sclerosis (ALS is a neurodegenerative disorder with a very fast progression, no diagnostic tool for the presymptomatic phase, and still no effective treatment of the disease. Although ALS affects motor neurons, the overall pathophysiological condition points out to the non-cell autonomous mechanisms, where astrocytes and microglia play crucial roles in the disease progression. We have already shown that IgG from sera of ALS patients (ALS IgG induce calcium transients and an increase in the mobility of acidic vesicles in cultured rat astrocytes. Having in mind the role of microglia in neurodegeneration, and a well-documented fact that oxidative stress is one of the many components contributing to the disease, we decided to examine the effect of ALS IgG on activation, oxidative stress and antioxidative system of BV-2 microglia, and to evaluate their acute effect on cytosolic peroxide, pH, and on reactive oxygen species (ROS generation. All tested ALS IgGs (compared to control IgG induced oxidative stress (rise in nitric oxide and the index of lipid peroxidation followed by release of TNF-α and higher antioxidative defense (elevation of Mn- and CuZn-superoxide dismutase, catalase, and glutathione reductase with a decrease of glutathione peroxidase and glutathione after 24 h treatment. Both ALS IgG and control IgG showed same localization on the membrane of BV-2 cells following 24 h treatment. Cytosolic peroxide and pH alteration were evaluated with fluorescent probes HyPer and SypHer, respectively, having in mind that HyPer also reacts to pH changes. Out of 11 tested IgGs from ALS patients, 4 induced slow exponential rise of HyPer signal, with maximal normalized fluorescence in the range 0.2–0.5, also inducing similar increase of SypHer intensity, but of a lower amplitude. None of the control IgGs induced changes with neither of the indicators. Acute ROS generation was detected in one out of three tested ALS samples with

  12. Immunoglobulins G from Sera of Amyotrophic Lateral Sclerosis Patients Induce Oxidative Stress and Upregulation of Antioxidative System in BV-2 Microglial Cell Line.

    Science.gov (United States)

    Milošević, Milena; Milićević, Katarina; Božić, Iva; Lavrnja, Irena; Stevanović, Ivana; Bijelić, Dunja; Dubaić, Marija; Živković, Irena; Stević, Zorica; Giniatullin, Rashid; Andjus, Pavle

    2017-01-01

    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder with a very fast progression, no diagnostic tool for the presymptomatic phase, and still no effective treatment of the disease. Although ALS affects motor neurons, the overall pathophysiological condition points out to the non-cell autonomous mechanisms, where astrocytes and microglia play crucial roles in the disease progression. We have already shown that IgG from sera of ALS patients (ALS IgG) induce calcium transients and an increase in the mobility of acidic vesicles in cultured rat astrocytes. Having in mind the role of microglia in neurodegeneration, and a well-documented fact that oxidative stress is one of the many components contributing to the disease, we decided to examine the effect of ALS IgG on activation, oxidative stress and antioxidative system of BV-2 microglia, and to evaluate their acute effect on cytosolic peroxide, pH, and on reactive oxygen species (ROS) generation. All tested ALS IgGs (compared to control IgG) induced oxidative stress (rise in nitric oxide and the index of lipid peroxidation) followed by release of TNF-α and higher antioxidative defense (elevation of Mn- and CuZn-superoxide dismutase, catalase, and glutathione reductase with a decrease of glutathione peroxidase and glutathione) after 24 h treatment. Both ALS IgG and control IgG showed same localization on the membrane of BV-2 cells following 24 h treatment. Cytosolic peroxide and pH alteration were evaluated with fluorescent probes HyPer and SypHer, respectively, having in mind that HyPer also reacts to pH changes. Out of 11 tested IgGs from ALS patients, 4 induced slow exponential rise of HyPer signal, with maximal normalized fluorescence in the range 0.2-0.5, also inducing similar increase of SypHer intensity, but of a lower amplitude. None of the control IgGs induced changes with neither of the indicators. Acute ROS generation was detected in one out of three tested ALS samples with carboxy-H2DCFDA

  13. Comparison of Masking Level Difference in Patients with Multiple Sclerosis and Healthy Control Group

    Directory of Open Access Journals (Sweden)

    Soghrat Faghihzadeh

    2012-03-01

    Full Text Available Background and Aim: Multiple sclerosis (MS is a neurological disorder that involves central nervous system. Studies have showed that multiple sclerosis affects behavioral central auditory tests, such as masking release or masking level difference (MLD. The purpose of this study is to compare the masking level difference between multiple sclerosis patients and normal subjects.Methods: This cross sectional and non-interventional study was conducted on 32 multiple sclerosis patients aged between 20-50 years and 32 controls matched for age and gender in Faculty of Rehabilitation, Tehran University of Medical Sciences. masking level difference test was performed on each subject.Results: The mean masking level difference in the two groups was significantly different (p<0.01 however, gender did not prove to play a role in this difference.Conclusion: As part of the multiple sclerosis diagnosis panel, masking level difference test is an efficient modality for evaluation of hearing impairment and monitoring of rehabilitation progress.

  14. Workflow Management for Multiple Sclerosis Patients: IT and Organization

    NARCIS (Netherlands)

    Michel-Verkerke, Margreet B.; Michel-Verkerke, M.B.; Schuring, R.W.; Spil, Antonius A.M.; Sprague, R.H.

    2004-01-01

    Patients with Multiple Sclerosis (MS) visit various healthcare providers during the course of their disease. It was suggested that IT might help to orchestrate their care provision. We have applied the USE IT-tool to get insight in the relevant problems, solutions and constraints of the MS-care and

  15. Poor sleep quality in patients with multiple sclerosis : gender differences

    NARCIS (Netherlands)

    Vitkova, Marianna; Rosenberger, Jaroslav; Gdovinova, Zuzana; Szilasiova, Jarmila; Mikula, Pavol; Groothoff, Johan W.; Reijneveld, Sijmen A.; van Dijk, Jitse P.

    2016-01-01

    Objectives Most of the psychological and physical factors associated with poor sleep quality in patients with multiple sclerosis (MS) have a different prevalence in women and men, but whether or not these factors contribute differently to sleep quality in women and men with MS remains unclear. The

  16. Evaluating Functional Decline in Patients with Multiple Sclerosis

    Science.gov (United States)

    Rosenblum, Sara; Weiss, Patrice L.

    2010-01-01

    Multiple Sclerosis (MS) is a disease with a wide-ranging impact on functional status. The aim of the study was to examine the added value of simultaneously evaluating fatigue, personal ADL and handwriting performance as indicators for functional decline among patients with MS. Participants were 50 outpatients with MS and 26 matched healthy…

  17. Influence of clinical features, serum antinuclear antibodies, and lung function on survival of patients with systemic sclerosis

    DEFF Research Database (Denmark)

    Jacobsen, Søren; Ullman, S; Shen, G Q

    2001-01-01

    -U1-RNP, anti-U3-RNP, anti-Th-RNP, and anti-RNA polymerase (anti-RNAP) antibodies were determined by means of double immunodiffusion, immunofluorescence, hemagglutination technique, radioactively labelled antisense riboprobes, and ELISA, respectively. RESULTS: Patients were followed for a mean period...... of 13.3 yrs; 16 died of an SSc related condition and 50 of other causes. Pulmonary fibrosis, DLCO reduction antibody were related to decreased survival due to SSc. Variables that entered...... of anti-RNAP antibody was 14 (p = 0.0001) and 1.9 (p = 0.01), respectively. The corresponding figures for anti-topo I antibody were 4.6 (p = 0.02) and 2.0 (p = 0.01). CONCLUSION: SSc related mortality was associated with right heart failure and diffuse SSc, both of which were also associated...

  18. Registry Evaluation of Digital Ulcers in Systemic Sclerosis

    Directory of Open Access Journals (Sweden)

    Felice Galluccio

    2010-01-01

    Full Text Available Digital ulcers are a very frequent complication of systemic sclerosis affecting about half of the SSc patients, and about 75% of the affected patients have their first DU episode within 5 years from their first non-Raynaud symptom. The lack of adequate classification criteria as well as the lack of knowledge of the development of DU have contributed to the opening of specific registries to better understand the natural history of these lesions. For these reason, specific disease registries play a fundamental role in this field of research. Thanks to the systematic collection of data and their subsequent analysis and comparison between different cohorts, it is possible to improve understanding of the underlying trigger mechanisms of DU development and to determine temporal trends. In the future, the development of recommendations for the management of DU remains of pivotal importance to prevent DU development and obtain rapid healing as well as reduction of pain and disability.

  19. Insulin resistance in drug naive patients with multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Kostić Smiljana

    2017-01-01

    Full Text Available Background/Aim. Due to the fact that there is a relatively small number of data related to systemic insulin abnormalities in the multiple sclerosis (MS, the main objective of our study was to determine whether a dysbalance of glucose and insulin metabolism exist in patients with natural course of MS. Our hypothesis was that the metabolic disorder that characterizes state of the insulin resistance (IR and reduced insulin sensitivity (IS in untreated patients with MS could play a role in disease progression and degree of functional disability. Methods. The study included 31 patients with relapsing-remitting (RR MS and 14 healthy controls from the same geographic area matched by age, ethnicity and number of smokers. The glucose tolerance, IS, and IR were examined using an oral glucose tolerance test (OGTT and using basal plasma glucose and insulin levels. The functional disability and disease progression were evaluated by the Expanded Disability Status Scale (EDSS and Multiple Sclerosis Severity Score (MSSS. Results. The MS patients tolerated glucose equally well as the healthy controls. Basal concentrations of insulin were significantly higher in the MS group (p < 0.05, as well as insulin plasma level 30 min after oral glucose load (p < 0.01. The patients with MS had significantly higher values of homeostasis model assessment indexes of IR (HOMA-IR (p = 0.027; p = 0.028. The percentage of IS (HOMA2 %S and whole body IS index (ISI Matsuda showed significantly lower values in the MS patients than in the controls (p = 0.005; p = 0.001. The insulinogenic index in the first 30 min of OGTT was significantly higher in MS patients (p = 0.005. The measures of functional disability and MS progression did not correlate significantly with the investigated parameters of IR and IS indexes. Conclusion. This study demonstrates for the first time the existence of hyperinsulinemia, reduced insulin sensitivity and normal glucose tolerance that indicate the initial

  20. Non-invasive examination of multiple sclerosis patients

    International Nuclear Information System (INIS)

    Weerd, A.W. de.

    1981-01-01

    Multiple sclerosis is characterized by a wide range of symptoms and, in many cases, by a highly erratic course. As a result diagnosis is often a problem. Two non-invasive examinations, Computer Tomography (CT scan) and the Evoked Response test (ER), are the subjects of this study which, according to available literature, both can play a role in the establishment of the diagnosis of multiple sclerosis. Clinical trials have been performed and both methods demonstrated abnormalities of the central nervous system which were not suspected on clinical grounds; as a result both methods of examination can contribute to the early establishment of the diagnosis of multiple sclerosis. In addition the diagnosis can be determined with greater certainty when the findings of the CT-scan and the evoked response test are taken into consideration. (Auth.)

  1. RARE CASE OF SYSTEMIC SCLEROSIS IN A CHILD AGED 4 MONTHS

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    S.S. Postnikov

    2007-01-01

    Full Text Available The article provides a clinical and morphologic description of a rare case of systemic sclerosis along with the beginning of the diseases during the infancy. In the clinical picture, the researchers identified occurrences of the systemic vasculitis: abundant cyanotic and red spotty rash with atrophy in the middle, thick edemas of legs and ankles, necrosis of the nail bone of the left little finger, banti's syndrome. In the histological picture, most characteristic peculiarities were: 3 stages of systemic sclerosis process development — inflammation, hardening and atrophy; disorganization of collagenous corium fibers; nidi of calcification along the borderline of corium and hypoderm; multiple ulcers of small and large intestines, perforation of one of which caused peritonitis and fatal outcome of the patient.Key words: infants, vasculitis, systemic sclerosis.

  2. An Update on the Treatment of the Cutaneous Manifestations of Systemic Sclerosis: The Dermatologist's Point of View.

    Science.gov (United States)

    Vitiello, Magalys; Abuchar, Adriana; Santana, Néstor; Dehesa, Luis; Kerdel, Francisco A

    2012-07-01

    Systemic sclerosis is a connective tissue disorder that affects multiple organs. Although the initial symptoms of the disease are vascular, skin involvement is almost universally present in patients with systemic sclerosis. The presence of Raynaud's phenomenon, progressive thickening of the skin, digital ulcers, and calcinosis all correlate proportionally with disease severity. Since no treatment is available to completely prevent the natural course of the disease, emphasis is often placed on managing symptoms and complications. In this review, the authors focus on the management of each one of the skin manifestations seen in systemic sclerosis, as the dermatologist may facilitate the early recognition and treatment of these complications.

  3. Hepatoportal sclerosis in childhood: descriptive analysis of 12 patients.

    Science.gov (United States)

    Cantez, Mustafa Serdar; Gerenli, Nelgin; Ertekin, Vildan; Güllüoğlu, Mine; Durmaz, Özlem

    2013-10-01

    Hepatoportal sclerosis (HPS) is defined as sclerosis of portal areas in the absence of cirrhosis. There is little information about HPS in children in the literature. The aim of this study was to describe the clinical presentation, associated disorders, laboratory characteristics and outcome of children who were diagnosed as HPS. This study included 12 children diagnosed as HPS by the Pathology Department between 2005 and 2011. Data were collected from the gastroenterology clinic charts retrospectively, including demographics, presentation characteristics, laboratory data and recent status of patients. Twelve patients were enrolled (6 girls, 6 boys). The median age of patients was 13.5 yr. Median age at the time of biopsy was 11 yr. Four patients had splenomegaly, 3 had esophageal varices, one had hepatopulmonary syndrome and had been transplanted. Smooth muscle antibody was found positive in 4 patients, without autoimmune hepatitis findings in liver biopsy. One patient had celiac disease and another patient had positive celiac disease serology but pathology findings. Another patient had Turner's syndrome. Mean follow-up time was 39 months (3.3 yr) after biopsy. Hepatoportal sclerosis does not necessarily present with portal hypertension in children.

  4. Coping strategies for activities of daily living in women whose hands affected by systemic sclerosis.

    Science.gov (United States)

    Cinar, Fatma I; Unver, Vesile; Cinar, Muhammet; Yilmaz, Sedat; Simsek, Ismail; Tosun, Nuran; Erdem, Hakan; Yilmaz, Fatma; Pay, Salih; Dinc, Ayhan

    2014-06-01

    To determine the challenges experienced by women with systemic sclerosis, whose hands affected, while performing activities of daily living and their coping strategies. Many of the patients with systemic sclerosis experience difficulties in performing daily activities. One of the most important reasons for that is the impaired hand function due to their diseases. A descriptive cross-sectional design was conducted and questionnaire was used in this study. The study was performed in a Rheumatology Department at a tertiary-care hospital in Turkey between April 2010-December 2011. Nineteen patients with systemic sclerosis with hand involvement were enrolled in this study. The data were collected by using both a demographic data form and an Evaluation of Daily Activity Questionnaire. According to Evaluation of Daily Activity Questionnaire, the most scored dimension that patients can do with much difficulty was 'eating' and the dimension that patients unable to do was 'washing/clothes care'. In 'eating' dimension, the most difficult activities were 'opening glass jar', 'opening juice bottle' and 'opening bottle' that requiring the movement of rotation. Their coping strategies for these activities were as follows: try to open with a towel, try to remove the edge of the palm with a knife, use the hand palm and help from someone else (spouse, neighbour, etc.). In 'washing/clothes care' dimension, the most difficult activities were 'turning up hem of a skirt', 'washing up in bowl' and 'cutting out material'. For these activities, they use some coping strategies such as getting help from tailor, washing in the machine instead of hand washing. This study demonstrates that impaired hand function affects the daily life activities of patients with systemic sclerosis, and patients have developed some coping strategies to overcome these difficulties. The coping strategies used by patients can be helpful for the other patients with systemic sclerosis. © 2013 John Wiley & Sons Ltd.

  5. Pulmonary involvement in systemic sclerosis: A clinical profile

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    A S Deepa

    2016-01-01

    Full Text Available Background: Systemic sclerosis is a generalized disorder of connective tissue affecting skin and internal organs. Lung involvement accounts for significant morbidity and is a leading cause of mortality in patients. Objectives: This study intends to study the frequency of occurrence of pulmonary involvement in progressive systemic sclerosis (PSS and to describe the clinical and radiological picture of pulmonary involvement in PSS. Materials and Methods: This was a descriptive cross-sectional study. A detailed history, modified Rodnan score, clinical examination, routine investigation, antinuclear antibody, immuno biot, chest X-ray (CXR, pulmonary function test (PFT, and 6 min walk test (6MWT were performed on all patients. High resolution computed tomography was done on those who consented. Results: Hundred subjects with PSS were included in the study; 90 were females and 10 were males. Common presenting complaints were skin thickening in 98% and Raynaud's phenomenon in 98%. Skin thickening of digits beyond metacarpo phalangeal was seen in 98%, face and neck in 92%, and hands in 92%. Chest wall thickening was seen in 40 subjects (40%. 90 (90% of the studied subjects had pulmonary involvement, longer duration of disease was significantly associated with pulmonary involvement (P < 0.05. Dyspnea, cough, bilateral crepitations, CXR, Borg score, and Rodnan score was found to be significantly associated with severe pulmonary involvement (P < 0.05. Conclusion: The prevalence of pulmonary involvement in this cohort study was 90%. Almost 1/3rd of patients, that is 29 (29% were detected to have pulmonary involvement despite being asymptomatic for respiratory complaints, hence early screening and evaluation is recommended. PFT and 6MWT are noninvasive, cost-effective, and easily available screening tests which can be used in resource-limited settings.

  6. The role of B cells in systemic sclerosis

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    Marina D Kraaij

    2008-09-01

    Full Text Available Marina D Kraaij, Jacob M van LaarMusculoskeletal Research Group, Institute of Cellular Medicine, School of Clinical Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, United KingdomAbstract: Systemic sclerosis (SSc is a connective disease characterized by features of autoimmunity, vasculopathy, inflammation, and fibrosis. The disease typically starts with Raynaud’s phenomenon, followed by skin thickening in the extremities due to inflammation and fibrosis. Fibrosis results from excessive collagen production by fibroblasts, which constitutes the final common pathway of complex cellular interactions including B cells. Several studies have indicated that B cells may play a role in SSc. Lesional skin infiltrates from SSc patients consist of a variety of cells, including eosinophils, neutrophils, lymphocytes, plasma cells, and macrophages. Autoantibodies of several specificities are present in the serum of SSc patients of which antitopoisomerase 1 is the most common, and evidence has been gathered for a potential pathogenic role of some autoantibodies, eg, anti-PDGF antibodies. The blood of SSc patients contains an increased proportion of naïve B cells but a decreased proportion of memory B cells. Furthermore, serum levels of interleukin-6, an important pro-inflammatory cytokine, have been shown to correlate with skin fibrosis. Animal models of SSc have provided more in-depth information on the role of B lymphocytes, eg, through disruption of B cell function. In this review we will discuss the evidence that B cells are involved in the pathogenesis of SSc.Keywords: B lymphocyte, systemic sclerosis, fibrosis

  7. TDP-43 pathology in the basal forebrain and hypothalamus of patients with amyotrophic lateral sclerosis.

    Science.gov (United States)

    Cykowski, Matthew D; Takei, Hidehiro; Schulz, Paul E; Appel, Stanley H; Powell, Suzanne Z

    2014-12-24

    Amyotrophic lateral sclerosis is a neurodegenerative disease characterized clinically by motor symptoms including limb weakness, dysarthria, dysphagia, and respiratory compromise, and pathologically by inclusions of transactive response DNA-binding protein 43 kDa (TDP-43). Patients with amyotrophic lateral sclerosis also may demonstrate non-motor symptoms and signs of autonomic and energy dysfunction as hypermetabolism and weight loss that suggest the possibility of pathology in the forebrain, including hypothalamus. However, this region has received little investigation in amyotrophic lateral sclerosis. In this study, the frequency, topography, and clinical associations of TDP-43 inclusion pathology in the basal forebrain and hypothalamus were examined in 33 patients with amyotrophic lateral sclerosis: 25 men and 8 women; mean age at death of 62.7 years, median disease duration of 3.1 years (range of 1.3 to 9.8 years). TDP-43 pathology was present in 11 patients (33.3%), including components in both basal forebrain (n=10) and hypothalamus (n=7). This pathology was associated with non-motor system TDP-43 pathology (Χ2=17.5, p=0.00003) and bulbar symptoms at onset (Χ2=4.04, p=0.044), but not age or disease duration. Furthermore, TDP-43 pathology in the lateral hypothalamic area was associated with reduced body mass index (W=11, p=0.023). This is the first systematic demonstration of pathologic involvement of the basal forebrain and hypothalamus in amyotrophic lateral sclerosis. Furthermore, the findings suggest that involvement of the basal forebrain and hypothalamus has significant phenotypic associations in amyotrophic lateral sclerosis, including site of symptom onset, as well as deficits in energy metabolism with loss of body mass index.

  8. Systemic sclerosis biomarkers discovered using mass-spectrometry-based proteomics: a systematic review.

    Science.gov (United States)

    Bălănescu, Paul; Lădaru, Anca; Bălănescu, Eugenia; Băicuş, Cristian; Dan, Gheorghe Andrei

    2014-08-01

    Systemic sclerosis (SSc) is an autoimmune disease with incompletely known physiopathology. There is a great challenge to predict its course and therapeutic response using biomarkers. To critically review proteomic biomarkers discovered from biological specimens from systemic sclerosis patients using mass spectrometry technologies. Medline and Embase databases were searched in February 2014. Out of the 199 records retrieved, a total of 20 records were included, identifying 116 candidate proteomic biomarkers. Research in SSc proteomic biomarkers should focus on biomarker validation, as there are valuable mass-spectrometry proteomics studies in the literature.

  9. [Silica-associated systemic sclerosis occurring after an occupational exposure to arc welding].

    Science.gov (United States)

    Alaya, Zeineb; Kalboussi, Houda; Osman, Walid; Naouar, Nader; Zeglaoui, Héla; Bouajina, Elyès

    2016-01-01

    Crystalline silica-associated systemic sclerosis can occur in people operating arc welding. Diffuse scleroderma was diagnosed in a 57-year old plumber-welder suffering from inflammatory polyarthralgias, Raynaud's phenomenon, sclerodactyly, diffuse cutaneous scleroderma, telangiectasias, esophageal damage, pulmonary arterial hypertension and pulmonary fibrosis associated with the presence of anti-nucleosome antibodies. During his professional activity the patient was frequently exposed to high atmospheric concentrations of crystalline silica generated by arc-welding. The diagnosis of Erasmus syndrome associated with systemic sclerosis and pulmonary silicosis was retained. A report of work-related illness (table 17 in Tunisia) was made.

  10. Altered serotonin transporter availability in patients with multiple sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Hesse, Swen; Sabri, Osama [University of Leipzig, Department of Nuclear Medicine, Leipzig (Germany); Integrated Research and Treatment Center (IFB) Adiposity Diseases, University of Leipzig, Leipzig (Germany); Moeller, Franziska; Thomae, Eva; Then Bergh, Florian [University of Leipzig, Department of Neurology, Leipzig (Germany); Petroff, David [University of Leipzig, Coordinating Centre for Clinical Studies, Leipzig (Germany); Lobsien, Donald [University of Leipzig, Department of Neuroradiology, Leipzig (Germany); Luthardt, Julia; Becker, Georg-Alexander; Patt, Marianne; Seese, Anita; Meyer, Philipp M. [University of Leipzig, Department of Nuclear Medicine, Leipzig (Germany); Regenthal, Ralf [University of Leipzig, Clinical Pharmacology, Rudolf-Boehm-Institute of Pharmacology and Toxicology, Leipzig (Germany)

    2014-05-15

    Modulation of the immune system by the CNS may involve serotonergic regulation via the brain serotonin transporters (SERT). This regulation may be disturbed in patients with CNS disorders including multiple sclerosis (MS). Central serotonergic mechanisms have not been investigated in MS by in vivo imaging. The objective of the study was to assess the availability of SERT in antidepressant-naive patients with MS by means of PET. Included in this study were 23 patients with MS and 22 matched healthy volunteers who were investigated with PET and the SERT-selective marker [{sup 11}C]DASB, and distribution volume ratios were determined. Clinical assessment of the patients included the expanded disability status scale, the MS fatigue scale Wuerzburger Erschoepfungsinventar bei MS (WEIMuS) and the Beck Depression Inventory (BDI). The PET data were analysed with both volume-of-interest and voxel-based analyses to determine regional SERT availability. Patients had lower SERT availability in the cingulate cortex, the thalamus and the insula, and increased availability in the orbitofrontal cortex. Patients with relapsing/remitting MS tended to have lower SERT in the hippocampus, whereas patients with primary progressive disease showed increased SERT availability in prefrontal regions. There was a positive correlation between SERT availability in the insula and both depression and fatigue scores (r = 0.56 vs. BDI, p = 0.02; r = 0.49 vs. WEIMuS, p = 0.05). Serotonergic neurotransmission in MS patients is altered in limbic and paralimbic regions as well as in the frontal cortex that this appears to contribute to psychiatric symptoms of MS. (orig.)

  11. Endothelin Receptor Antagonists for the Treatment of Raynaud's Phenomenon and Digital Ulcers in Systemic Sclerosis

    Science.gov (United States)

    Arefiev, Kait; Fiorentino, David F.; Chung, Lorinda

    2011-01-01

    Systemic sclerosis is a connective tissue disease characterized by fibrosis of the skin, internal organs, and widespread vasculopathy. Raynaud's phenomenon and digital ulcers are vascular manifestations of this disease and cause significant morbidity. Current treatments are only moderately effective in reducing the severity of Raynaud's in a portion of patients and typically do not lead to substantial benefit in terms of the healing or prevention of digital ulcers. Several studies have evaluated the efficacy of targeting the vasoconstrictor endothelin-1 for the treatment of systemic sclerosis-associated vascular disease. The purpose of this paper is to summarize the published studies and case reports evaluating the efficacy of endothelin receptor antagonists in the treatment of Raynaud's phenomenon and digital ulcers associated with systemic sclerosis. PMID:22121371

  12. Endothelin Receptor Antagonists for the Treatment of Raynaud's Phenomenon and Digital Ulcers in Systemic Sclerosis

    Directory of Open Access Journals (Sweden)

    Kait Arefiev

    2011-01-01

    Full Text Available Systemic sclerosis is a connective tissue disease characterized by fibrosis of the skin, internal organs, and widespread vasculopathy. Raynaud's phenomenon and digital ulcers are vascular manifestations of this disease and cause significant morbidity. Current treatments are only moderately effective in reducing the severity of Raynaud's in a portion of patients and typically do not lead to substantial benefit in terms of the healing or prevention of digital ulcers. Several studies have evaluated the efficacy of targeting the vasoconstrictor endothelin-1 for the treatment of systemic sclerosis-associated vascular disease. The purpose of this paper is to summarize the published studies and case reports evaluating the efficacy of endothelin receptor antagonists in the treatment of Raynaud's phenomenon and digital ulcers associated with systemic sclerosis.

  13. Retinoic acid for treatment of systemic sclerosis and morphea: A literature review.

    Science.gov (United States)

    Thomas, Renee M; Worswick, Scott; Aleshin, Maria

    2017-03-01

    Systemic sclerosis and morphea are connective tissue diseases characterized by tightening, thickening, and hardening of the skin, leading to significant morbidity. Unfortunately, current treatment options have limited efficacy for many patients. Cutaneous manifestations of these diseases arise from excess collagen deposition and fibrosis in the skin, through pathogenic mechanisms which have yet to be extensively detailed at the causal immune and cellular levels. Research elucidating the mechanism of action of retinoic acid on collagen production in the skin and case series highlighting the success of retinoic acid on the skin manifestations of systemic sclerosis and on morphea demonstrate its promise as a treatment. Herein they will briefly review the treatment options for both systemic sclerosis and morphea, and will discuss the potential of retinoic acid as a therapy and the supporting evidence from the literature, highlighting the previously published basic science and clinical studies investigating the role of retinoic acid in the treatment of sclerotic skin diseases. © 2016 Wiley Periodicals, Inc.

  14. Successful treatment of Raynaud's phenomenon and digital ulcers in systemic sclerosis patients with botulinum toxin B injection: Assessment of peripheral vascular disorder by angiography and dermoscopic image of nail fold capillary.

    Science.gov (United States)

    Motegi, Sei-Ichiro; Sekiguchi, Akiko; Saito, Shintaro; Ishibuchi, Hirohisa; Kishi, Chikako; Yasuda, Masahito; Ishikawa, Osamu

    2018-03-01

    We recently identified the efficacy and safety of a botulinum toxin (BTX)-A/B in Raynaud's phenomenon (RP) and digital ulcers (DU) in Japanese patients with systemic sclerosis (SSc). Detailed assessments of peripheral vascular disorder using angiography and dermoscopic images of nail fold capillaries have not been performed previously. This study aimed to evaluate the effect of BTX-B on SSc-associated peripheral vascular disorder. Two SSc patients who suffered with RP and DU were treated with a BTX-B injection, and thereafter the symptoms of RP were improved and DU healed in both patients. Furthermore, angiography showed an increased blood flow to the palm and fingers, and dermoscopic images of nail fold capillary changes showed improvement. These results suggest that a BTX-B injection may increase peripheral blood flow and improve RP and DU in SSc patients. © 2017 Japanese Dermatological Association.

  15. Patterns of cannabis use among patients with multiple sclerosis.

    Science.gov (United States)

    Clark, A J; Ware, M A; Yazer, E; Murray, T J; Lynch, M E

    2004-06-08

    To estimate the patterns and prevalence of cannabis use among patients with multiple sclerosis (MS), 220 patients were surveyed in Halifax, Nova Scotia. Seventy-two subjects (36%) reported ever having used cannabis for any purpose; 29 respondents (14%) reported continuing use of cannabis for symptom treatment. Medical cannabis use was associated with male gender, tobacco use, and recreational cannabis use. The symptoms reported by medical cannabis users to be most effectively relieved were stress, sleep, mood, stiffness/spasm, and pain.

  16. Vascular Alterations and Sexual Function in Systemic Sclerosis

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    Ann Julie Impens

    2010-01-01

    Full Text Available Sexual dysfunction is common in systemic sclerosis (SSc. Male erectile dysfunction (MED has been reported in around 80% of subjects and more than half of female patients fulfill criteria for diagnosis as female sexual arousal Disorder (FSAD. While some evidence supports a role for cavernosal fibrosis, abundant data suggest that MED is yet another clinical feature of SSc related to vasculopathy. The contribution of vasculopathy to the more complex issues of female sexual dysfunction is less clear. Inhibitors of Type V phosphodiesterase are effective in men with MED secondary to SSc. Limited study in women suggests inconsistent effects on behavior (frequency but not on measures related to perfusion. Sexual activity is an important component of quality of life and an important domain for the caregiver to address; it is not clear that it warrants primary consideration as a consistent measure of scleroderma-related vasculopathy.

  17. Development and validation of a scale for mouth handicap in systemic sclerosis: the Mouth Handicap in Systemic Sclerosis scale

    Science.gov (United States)

    Mouthon, L; Rannou, F; Bérezné, A; Pagnoux, C; Arène, J‐P; Foïs, E; Cabane, J; Guillevin, L; Revel, M; Fermanian, J; Poiraudeau, S

    2007-01-01

    Objective To develop and assess the reliability and construct validity of a scale assessing disability involving the mouth in systemic sclerosis (SSc). Methods We generated a 34‐item provisional scale from mailed responses of patients (n = 74), expert consensus (n = 10) and literature analysis. A total of 71 other SSc patients were recruited. The test–retest reliability was assessed using the intraclass coefficient correlation and divergent validity using the Spearman correlation coefficient. Factor analysis followed by varimax rotation was performed to assess the factorial structure of the scale. Results The item reduction process retained 12 items with 5 levels of answers (total score range 0–48). The mean total score of the scale was 20.3 (SD 9.7). The test–retest reliability was 0.96. Divergent validity was confirmed for global disability (Health Assessment Questionnaire (HAQ), r = 0.33), hand function (Cochin Hand Function Scale, r = 0.37), inter‐incisor distance (r = −0.34), handicap (McMaster‐Toronto Arthritis questionnaire (MACTAR), r = 0.24), depression (Hospital Anxiety and Depression (HAD); HADd, r = 0.26) and anxiety (HADa, r = 0.17). Factor analysis extracted 3 factors with eigenvalues of 4.26, 1.76 and 1.47, explaining 63% of the variance. These 3 factors could be clinically characterised. The first factor (5 items) represents handicap induced by the reduction in mouth opening, the second (5 items) handicap induced by sicca syndrome and the third (2 items) aesthetic concerns. Conclusion We propose a new scale, the Mouth Handicap in Systemic Sclerosis (MHISS) scale, which has excellent reliability and good construct validity, and assesses specifically disability involving the mouth in patients with SSc. PMID:17502364

  18. Fecal incontinence in systemic sclerosis is secondary to neuropathy.

    Science.gov (United States)

    Thoua, Nora M; Abdel-Halim, Mostafa; Forbes, Alastair; Denton, Chris P; Emmanuel, Anton V

    2012-04-01

    Systemic sclerosis (SSc) is a chronic multi-system autoimmune disorder with gastrointestinal tract (GIT) involvement in up to 90% of patients and anorectal involvement occurs in up to 50% of patients. The pathogenesis of gastrointestinal abnormalities may be both myogenic and neurogenic. We aimed to identify which anorectal physiological abnormalities correlate with clinical symptoms and thus understand the pathophysiology of anorectal involvement in SSc. In total, 44 SSc patients (24 symptomatic (Sx) (fecal incontinence) and 20 asymptomatic (ASx)) and 20 incontinent controls (ICs) were studied. Patients underwent anorectal manometry, rectal mucosal blood flow (RMBF), rectal compliance (barostat), and rectoanal inhibitory reflex assessment (RAIR). Anal squeeze pressure was lower in the IC group compared with both the ASx and Sx groups (IC: 46.95 (30-63.9)) vs. ASx: 104.6 (81-128.3) vs. (Sx: 121.4 (101.3-141.6); P ASx: 6.7 (5.7-7.7) vs. IC: 8.5 (6.5-10.4); P ASx and in 1/20 IC patients. Fecal incontinence in SSc is related to neuropathy as suggested by absent RAIR and higher anal sensory threshold and is related less so to sphincter atrophy and rectal fibrosis.

  19. Autobiographical memory in multiple sclerosis patients: assessment and cognitive facilitation.

    Science.gov (United States)

    Ernst, A; Blanc, F; Voltzenlogel, V; de Seze, J; Chauvin, B; Manning, L

    2013-01-01

    The multifocal nature of lesions in multiple sclerosis hints at the occurrence of autobiographical memory (AbM) impairment. However, the dearth of studies on AbM in multiple sclerosis is noticeable, notwithstanding the importance of AbM in everyday life. In the first section of this study, 25 multiple sclerosis patients and 35 controls underwent a detailed episodic AbM assessment. Results obtained by means of ANOVA suggested an AbM retrieval deficit in every patient. That pattern of performance paved the way for the second section of the study, in which we followed up 10 out of the 25 patients. Our objective was to assess the effectiveness of a cognitive facilitation programme designed to alleviate AbM retrieval deficits, based on the key role of mental visual imagery on AbM. Statistical group analyses by means of ANOVA and individual analyses using the χ(2) test showed significant differences in AbM test results, in post-facilitation relative to pre-facilitation training, in all 10 patients. Moreover, the patients' comments showed that the positive effects were transferred in their daily life functioning. We would like to suggest that the facilitation programme efficiently enhanced the process of self-centred mental visual imagery, which might have compensated for poor retrieval of personal memories by providing better access to visual details and detailed visual scenes of personal recollections.

  20. Prevalence of benign tumors among patients with multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Aryan Rafiee Zadeh

    2015-10-01

    Full Text Available Multiple sclerosis (MS, an inflammatory autoimmune disease, affects almost 1% of world’s population in which myelin sheaths of neurons are targeted by immune cells. Association of different factors and diseases with MS provides new insights into possible pathogenesis and treatment for this disease. In this regard, we investigated the association of benign tumors with MS disease by studying total Isfehan multiple sclerosis (TIMS records for MS patients registered in Isfahan Multiple Sclerosis Society (IMSS who had developed any kind of benign tumors whether before MS diagnosis or after it. This study was performed in Isfahan province, third large province of Iran, with 4,815,863 populations located 1590 meters above sea level between latitudes 30 and 34 degrees north of the equator, and longitude 49-55 east. Among 4950 registered patients, 28 patients were discovered to have three types of benign tumors; pituitary adenoma in 22, meningioma in 5 and lipoma in 1 patient. The incidence rate of developing pituitary adenoma and meningioma were higher than in general population (OR 95%CI: 1.110; range: 0.731-1.685 and 1.035; range: 0.431-2.487 respectively but these findings were not statistically significant (p= 0.624 for pituitary adenoma and p= 0.939 for meningioma. But the incidence rate for lipoma was lower among MS patients (OR 95%CI: 0.020; range: 0.003-0.143 which was statistically significant (p <0.001.

  1. MR brain scanning in patients with vasculitis: Differentiation from multiple sclerosis

    International Nuclear Information System (INIS)

    Miller, D.H.; Ormerod, I.E.C.; Du Boulay, E.P.G.H.; Rudge, P.; McDonald, W.I.; Gibson, A.

    1987-01-01

    We performed MR (magnetic resonance) brain imaging on 24 patients with a systemic vasculitis. MRI proved to be a sensitive method for detecting brain lesions (clinically silent or manifest) in these patients. The most frequent abnormalities were periventricular lesions seen in 12 cases. Such changes are not specific for vascular disease, and are often seen in multiple sclerosis. However, additional changes were commonly seen which suggested the correct diagnosis. (orig.)

  2. Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

    Science.gov (United States)

    Sadovnick, A. Dessa; Traboulsee, Anthony L.; Bernales, Cecily Q.; Ross, Jay P.; Forwell, Amanda L.; Yee, Irene M.; Guillot-Noel, Lena; Fontaine, Bertrand; Cournu-Rebeix, Isabelle; Alcina, Antonio; Fedetz, Maria; Izquierdo, Guillermo; Matesanz, Fuencisla; Hilven, Kelly; Dubois, Bénédicte; Goris, An; Astobiza, Ianire; Alloza, Iraide; Antigüedad, Alfredo; Vandenbroeck, Koen; Akkad, Denis A.; Aktas, Orhan; Blaschke, Paul; Buttmann, Mathias; Chan, Andrew; Epplen, Joerg T.; Gerdes, Lisa-Ann; Kroner, Antje; Kubisch, Christian; Kümpfel, Tania; Lohse, Peter; Rieckmann, Peter; Zettl, Uwe K.; Zipp, Frauke; Bertram, Lars; Lill, Christina M; Fernandez, Oscar; Urbaneja, Patricia; Leyva, Laura; Alvarez-Cermeño, Jose Carlos; Arroyo, Rafael; Garagorri, Aroa M.; García-Martínez, Angel; Villar, Luisa M.; Urcelay, Elena; Malhotra, Sunny; Montalban, Xavier; Comabella, Manuel; Berger, Thomas; Fazekas, Franz; Reindl, Markus; Schmied, Mascha C.; Zimprich, Alexander; Vilariño-Güell, Carles

    2016-01-01

    Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) as a putative genetic risk factor for MS. Genotyping of PLG p.G420D (rs139071351) in 2160 MS patients, and 886 controls from Canada, identified 10 additional probands, two sporadic patients and one control with the variant. Segregation in families harboring the rs139071351 variant, identified p.G420D in 26 out of 30 family members diagnosed with MS, 14 unaffected parents, and 12 out of 30 family members not diagnosed with disease. Despite considerably reduced penetrance, linkage analysis supports cosegregation of PLG p.G420D and disease. Genotyping of PLG p.G420D in 14446 patients, and 8797 controls from Canada, France, Spain, Germany, Belgium, and Austria failed to identify significant association with disease (P = 0.117), despite an overall higher prevalence in patients (OR = 1.32; 95% CI = 0.93–1.87). To assess whether additional rare variants have an effect on MS risk, we sequenced PLG in 293 probands, and genotyped all rare variants in cases and controls. This analysis identified nine rare missense variants, and although three of them were exclusively observed in MS patients, segregation does not support pathogenicity. PLG is a plausible biological candidate for MS owing to its involvement in immune system response, blood-brain barrier permeability, and myelin degradation. Moreover, components of its activation cascade have been shown to present increased activity or expression in MS patients compared to controls; further studies are needed to clarify whether PLG is involved in MS susceptibility. PMID:27194806

  3. Screening for pulmonary arterial hypertension in systemic sclerosis

    Directory of Open Access Journals (Sweden)

    J-L. Vachiéry

    2009-09-01

    Full Text Available The onset and progression of pulmonary arterial hypertension (PAH in patients with systemic sclerosis (SSc can be particularly aggressive; however, effective treatments are available. Therefore, early identification of patients with suspected PAH, confirmation of diagnosis, and intervention is essential. PAH may be challenging to diagnose in its earliest stages, particularly in populations that have multiple causes of breathlessness, and, therefore, screening is required. The optimal screening tools and methodology are, as yet, unknown, and this is confounded by a lack of consensus over which patients to screen. Current practice favours annual screening of all SSc patients using Doppler echocardiography to detect elevated right heart pressures. This will typically identify most patients with the various forms of pulmonary hypertension found in SSc. The optimum thresholds for Doppler echocardiography are still subject to investigation, especially for patients with mild pulmonary hypertension, and this technique may, therefore, yield a significant number of false-positives and a currently unknown number of false-negatives. Confirmatory right heart catheterisation remains necessary in all suspected cases. Further research is needed to identify the optimal tools and the screening approach with greatest specificity and selectivity.

  4. Gastrointestinal mucosal abnormalities using videocapsule endoscopy in systemic sclerosis.

    Science.gov (United States)

    Marie, I; Antonietti, M; Houivet, E; Hachulla, E; Maunoury, V; Bienvenu, B; Viennot, S; Smail, A; Duhaut, P; Dupas, J-L; Dominique, S; Hatron, P-Y; Levesque, H; Benichou, J; Ducrotté, P

    2014-07-01

    To date, there are no large studies on videocapsule endoscopy in systemic sclerosis (SSc). Consequently, the prevalence and features of gastrointestinal mucosal abnormalities in SSc have not been determined. To determine both prevalence and characteristics of gastrointestinal mucosal abnormalities in unselected patients with SSc, using videocapsule endoscopy. To predict which SSc patients are at risk of developing potentially bleeding gastrointestinal vascular mucosal abnormalities. Videocapsule endoscopy was performed on 50 patients with SSc. Prevalence of gastrointestinal mucosal abnormalities was 52%. Potentially bleeding vascular mucosal lesions were predominant, including: watermelon stomach (34.6%), gastric and/or small intestinal telangiectasia (26.9%) and gastric and/or small intestinal angiodysplasia (38.5%). SSc patients with gastrointestinal vascular mucosal lesions more often exhibited: limited cutaneous SSc (P = 0.06), digital ulcers (P = 0.05), higher score of nailfold videocapillaroscopy (P = 0.0009), anaemia (P = 0.02), lower levels of ferritin (P correlation between gastrointestinal vascular mucosal lesions and presence of severe extra-digestive vasculopathy (digital ulcers and higher nailfold videocapillaroscopy scores). This latter supports the theory that SSc-related diffuse vasculopathy is responsible for both cutaneous and digestive vascular lesions. Therefore, we suggest that nailfold videocapillaroscopy may be a helpful test for managing SSc patients. In fact, nailfold videocapillaroscopy score should be calculated routinely, as it may result in identification of SSc patients at higher risk of developing potentially bleeding gastrointestinal vascular mucosal lesions. © 2014 John Wiley & Sons Ltd.

  5. Pulmonary vasospasm in systemic sclerosis: noninvasive techniques for detection.

    Science.gov (United States)

    Keir, Gregory J; Nair, Arjun; Giannarou, Stamatia; Yang, Guang-Zhong; Oldershaw, Paul; Wort, S John; MacDonald, Peter; Hansell, David M; Wells, Athol U

    2015-09-01

    In a subgroup of patients with systemic sclerosis (SSc), vasospasm affecting the pulmonary circulation may contribute to worsening respiratory symptoms, including dyspnea. Noninvasive assessment of pulmonary blood flow (PBF), utilizing inert-gas rebreathing (IGR) and dual-energy computed-tomography pulmonary angiography (DE-CTPA), may be useful for identifying pulmonary vasospasm. Thirty-one participants (22 SSc patients and 9 healthy volunteers) underwent PBF assessment with IGR and DE-CTPA at baseline and after provocation with a cold-air inhalation challenge (CACh). Before the study investigations, participants were assigned to subgroups: group A included SSc patients who reported increased breathlessness after exposure to cold air (n = 11), group B included SSc patients without cold-air sensitivity (n = 11), and group C patients included the healthy volunteers. Median change in PBF from baseline was compared between groups A, B, and C after CACh. Compared with groups B and C, in group A there was a significant decline in median PBF from baseline at 10 minutes (-10%; range: -52.2% to 4.0%; P CACh. There was no significant difference in median PBF change between groups B or C at any time point and no change in pulmonary perfusion on DE-CTPA. Reduction in pulmonary blood flow following CACh suggests that pulmonary vasospasm may be present in a subgroup of patients with SSc and may contribute to worsening dyspnea on exposure to cold.

  6. Molecular biomarkers in cerebrospinal fluid of multiple sclerosis patients.

    Science.gov (United States)

    Fitzner, Brit; Hecker, Michael; Zettl, Uwe Klaus

    2015-10-01

    Multiple sclerosis (MS) is a chronic immune-mediated disease of the central nervous system, usually occurring in young adults and leading to disability. Despite the progress in technology and intensive research work of the last years, diagnosing MS can still be challenging. A heterogenic and complex pathophysiology with various types of disease courses makes MS unique for each patient. There is an urgent need to identify markers facilitating rapid and accurate diagnosis and prognostic assessments with regard to optimal therapy for each MS patient. Cerebrospinal fluid (CSF) is an outstanding source of specific markers related to MS pathology. Molecules reflecting specific pathological processes, such as inflammation, cellular damage, and loss of blood-brain-barrier integrity, are detectable in CSF. Clinically used biomarkers of CSF are oligoclonal bands, IgG-index, measles-rubella-zoster-reaction, anti-aquaporin 4 antibodies, and antibodies against John Cunningham virus. Many other potential biomarkers have been proposed in recent years. In this review we examine the current scientific knowledge on CSF molecular markers that could guide diagnosis and discrimination of different MS forms, support treatment decisions, or be helpful in monitoring and predicting disease progression, therapy response, and complications such as opportunistic infections. Copyright © 2015 Elsevier B.V. All rights reserved.

  7. Prevalência de achados cutâneos em portadores de esclerose sistêmica: experiência de um hospital universitário Prevalence of cutaneous findings in systemic sclerosis patients: experience of a teaching hospital

    Directory of Open Access Journals (Sweden)

    Fernanda Guidolin

    2005-10-01

    Full Text Available FUNDAMENTOS: A esclerose sistêmica é colagenose pouco comum e muito rica em manifestações cutâneas. OBJETIVO: Estudar a prevalência das manifestações cutâneas na esclerose sistêmica em geral e nos seus diferentes subtipos (formas limitada, generalizada e mista. MÉTODOS: Analisaram-se 32 pacientes de esclerose sistêmica (20 com forma limitada, oito com generalizada e quatro com forma mista quanto à esclerose de pele, fenômeno de Raynaud, cicatrizes estelares, telangiectasias, leucomelanodermia, microstomia, calcinose e prurido. RESULTADOS: Encontraram-se esclerose de pele e fenômeno de Raynaud em 100% dos pacientes; cicatrizes estelares em 65,6%; telangiectasias em 43,7%; leucomelanodermia em 43,7%; microstomia em 31,25%; prurido em 28,1% e calcinose em 12,5%. Não se observaram diferenças entre as formas localizada e difusa da doença, sendo p = 1 para cicatrizes estelares; p = 0,69 para telangiectasias; p = 0,22 para microstomia, p = 1 para calcinose e prurido. A forma mista de doença não diferiu das formas isoladas (limitada e difusa quanto aos mesmos achados. CONCLUSÕES: As manifestações mais comuns na esclerose sistêmica são a esclerose de pele e o fenômeno de Raynaud, e a mais rara é a calcinose. As três formas apresentam freqüências semelhantes de Raynaud, cicatrizes estelares, microstomia, telangiectasia, calcinose e prurido.BACKGROUND: Systemic sclerosis or scleroderma is a rare collagen disease presenting several cutaneous manifestations. OBJECTIVE: To study the prevalence of cutaneous manifestations in systemic sclerosis and its subtypes (limited form, diffuse form and overlap syndrome. METHODS: We studied 32 patients with scleroderma (20 with the limited form; 8 with the diffuse form and 4 with overlap syndrome considering skin sclerosis, Raynaud's phenomenon, digital scars, telangiectasia, leucomelanoderma (pigmentary changes, microstomy, calcinosis and pruritus. RESULTS: We found skin sclerosis and

  8. Serum Homocysteine level in patients with Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    F Ashtari

    2005-09-01

    Full Text Available Background: The etiology of multiple sclerosis (MS, a chronic demyelinative disease-is unknown. The damage of blood–brain barrier (BBB vasculature is a characteristic of MS and Homocystein (Hcy can damage BBB, then increase in total Hcy may be important in MS pathogenesis. The aim of this study was to compare the serum level of total Hcy in MS patients with control group. Methods: In a case control study, serum level of total Hcy measured in 35 MS patient and compared with 30 healthy matched controls. All patients had definitive MS according to Poser criteria, without history of myocardial infarction, stroke, neuropathy, transient ischemic attack, homocystinuria or renal failure. Results: The serum concentration of total homocystein was significantly higher in multiple sclerosis patients than healthy controls. The mean total Hcy level was 17.92± 6.9 mmol/lit in cases and 14.6±2.92 mmol/lit in controls (P=0.013. Conclusion: Serum total Homocystein may have a role in MS pathogenesis and reduction of it should be studied moreover. Key words: Multiple Sclerosis, Homocystein, Serum level

  9. [Cardiovascular and pupillary autonomic and somatosensory neuropathy in chronic diseases with autoimmune phenomena. A comparative study of patients with Crohn disease, ulcerative colitis, systemic lupus erythematosus, progressive systemic sclerosis and type I diabetes mellitus].

    Science.gov (United States)

    Straub, R H; Andus, T; Lock, G; Zeuner, M; Palitzsch, K D; Gross, V; Lang, B; Schölmerich, J

    1997-11-15

    During the last years, examination of autonomic nervous function and of autonomic neuropathy has attracted attention not only in diabetes mellitus research but also in other areas of internal medicine. However, patients with various chronic diseases with autoimmune phenomenons have never been investigated in a comparative study with standardized examination techniques. Hence, the aim of the study was to examine the prevalence and the severity of autonomic neuropathy in patients with the following chronic diseases. We investigated 28 patients with Crohn's disease (CD: age: 32.4 +/- 2.0 y), 17 patients with ulcerative colitis (UC: 39.7 +/- 3.6 y), 39 patients with systemic lupus erythematosus (SLE: 34.9 +/- 2.0 y), 38 patients with progressive systemic sclerosis (pSS; 51.5 +/- 2.4 y) and 65 patients with insulin-dependent diabetes mellitus (IDDM: 35.5 +/- 1.6 y). Cardiovascular autonomic (cANP), pupillary autonomic (pANP), and sensorimotor (ssNP) neuropathy were assessed by standardized techniques. Prevalence rates for cANP, pANP and ssNP were found to be 0%, 19%, and 7% in CD, 6%, 25%, and 18% in UC, 5%, 29%, and 10% in SLE, 11%, 16%, and 32% in pSS, and 26%, 66%, and 29% in IDDM, respectively. The study demonstrated patients with IDDM to have the highest prevalence rates of cANP and pANP. Patients with other chronic diseases, particularly SLE, pSS and UC, had high prevalence rates of pANP. This may be due to alterations of structures of the central nervous system in these patients. cANP was rare in patients with inflammatory bowel disease and ssNP was found very often in patients with pSS, probably due to local fibrotic lesions. The various disease groups differ in the pattern and severity of autonomic and sensorimotor neuropathy, which indicates that different structures and neuropathogenic mechanisms may be involved.

  10. Atypical demyelinating lesions in patients with multiple sclerosis

    International Nuclear Information System (INIS)

    Yetkin, Z.; Haughton, V.M.

    1995-01-01

    We describe an atypical MRI appearance of multiple sclerosis (MS). Lesions characterized on T2-weighted images by a well-defined rim of increased signal intensity and a concentric region of higher signal intensity were seen in 6 of 132 patients with MS. On T1-weighted images these lesions were evident as regions of low signal intensity, often with a rim of contrast enhancement or increased signal intensity. These appearances tended to be shown by new, evolving lesions. (orig.)

  11. Association of copeptin and cortisol in newly diagnosed multiple sclerosis patients.

    Science.gov (United States)

    Baranowska-Bik, Agnieszka; Kochanowski, Jan; Uchman, Dorota; Litwiniuk, Anna; Kalisz, Malgorzata; Martynska, Lidia; Wolinska-Witort, Ewa; Baranowska, Boguslawa; Bik, Wojciech

    2015-05-15

    Multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system. Obesity may increase the risk of developing MS. The aim of this study was to evaluate copeptin and cortisol plasma levels in newly diagnosed untreated MS patients and to determine whether copeptin and cortisol are related to the patients' clinical statuses. We report that copeptin and cortisol were higher in overweight/obese MS patients. Positive correlations were observed between the two parameters. We conclude that alterations of copeptin and cortisol levels in multiple sclerosis patients may be related to adiposity. An increase in cortisol may also be associated with copeptin secretion. Copyright © 2015 Elsevier B.V. All rights reserved.

  12. MR spectroscopy of cervical spinal cord in patients with multiple sclerosis

    International Nuclear Information System (INIS)

    Kendi, Ayse Tuba Karaguelle; Kendi, Mustafa; Tan, Funda Uysal; Tellioglu, Serdar; Huvaj, Sinef

    2004-01-01

    MR spectroscopy (MRS) of the brain in patients with multiple sclerosis has been well studied. However, in vivo MRS of the spinal cord in patients with MR spectroscopy has not been reported to our knowledge. We performed MRS of normal-appearing cervical spinal cords in multiple sclerosis patients and in healthy controls. N-acetyl aspartate was shown to be reduced within the cervical spinal cord of multiple sclerosis patients when compared with healthy controls. This finding supports axonal loss and damage within even normal-appearing spinal cords of multiple sclerosis patients. (orig.)

  13. MR imaging findings of patients with mesial temporal sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Min Jung; Kim, Sun Yong; Suh, Jung Ho [School of Medicine, Ajou University, Suwon (Korea, Republic of)

    2000-06-01

    To evaluate the MR imaging findings of patients with mesial temporal sclerosis. We retrospectively reviewed the MR imaging findings of 116 patients diagnosed by MRI as suffering from mesial temporal sclerosis. In 18 of these, the condition was also histologically proven. Among the 116 patients, volume loss of the hippocampus was found in 95 (81.9%) and signal changes of the hippocampus in 53 (45.7%). Decreased signal intensity in the hippocampus on T1-weighted images was found in 13 (11.2%) and increased signal on T2-weighted images in 50 (43.1%). Signal abnormality in the hippocampus on both T1- and T2-weighted images was found in ten, and associated extrahippocampal abnormalities, as follows, in 20 (17.2%): atrophy of fornix (n=3D10), atrophy of the mammillary body (n=3D8), atrophy of the amygdala (n=3D10), atrophy or increased T2 signal intensity of the anterior thalamic nuclei (n=3D2), atrophy of the cingulate gyrus (n=3D2), atrophy or increased signal intensity of the anterior temporal lobe (n=3D8), and cerebral hemiatrophy (n=3D4). A high T2 signal and atrophy of the hippocampus are the most common and important MRI findings of mesial temporal sclerosis. Other abnormal findings, if any, which may be found in extrahippocampal structures such as the fornix, mammillary body and temporal lobe, should, however, also be carefully observed. (author)

  14. Temporal acuity and speech recognition score in noise in patients with multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Mehri Maleki

    2014-04-01

    Full Text Available Background and Aim: Multiple sclerosis (MS is one of the central nervous system diseases can be associated with a variety of symptoms such as hearing disorders. The main consequence of hearing loss is poor speech perception, and temporal acuity has important role in speech perception. We evaluated the speech perception in silent and in the presence of noise and temporal acuity in patients with multiple sclerosis.Methods: Eighteen adults with multiple sclerosis with the mean age of 37.28 years and 18 age- and sex- matched controls with the mean age of 38.00 years participated in this study. Temporal acuity and speech perception were evaluated by random gap detection test (GDT and word recognition score (WRS in three different signal to noise ratios.Results: Statistical analysis of test results revealed significant differences between the two groups (p<0.05. Analysis of gap detection test (in 4 sensation levels and word recognition score in both groups showed significant differences (p<0.001.Conclusion: According to this survey, the ability of patients with multiple sclerosis to process temporal features of stimulus was impaired. It seems that, this impairment is important factor to decrease word recognition score and speech perception.

  15. [Association between depression and cognitive decline in sclerosis multiplex patients].

    Science.gov (United States)

    Hegedüs, Katalin; Kárpáti, Judit; Szombathelyi, Éva; Simó, Magdolna

    2015-03-01

    Multiple sclerosis (MS) is the most common neuroimmunological disease. In addition to its somatic symptoms, fatigue, mood disorder (depression) and cognitive impairment can be detected. Cognitive impairment significantly affects social relationships, work capacity, quality of life independently of disability. The aim of our research is to analyse the complex relationship between depression, manifestation of which occurs more often in MS compared to normal population, and cognitive functioning in multiple sclerosis. Forty participants (sixteen men, twenty-four women) are MS patients of the Department of Neurology, Semmelweis University. Control group included forty-two age-, gender-, and education-matched subjects (sixteen men, twenty-six women). Patients were screened using MMSE; and verbal learning, visual information processing, attention, short-term and long-term memory were tested. Depression was also assessed. In multiple sclerosis learning, long-term verbal memory and short-term visuospatial memory were impaired compared to control group. Working memory, information processing and attention were found to be intact. Depression scores of MS patients were significantly higher than those of the normal population. Regarding the relationship between depression and cognitive impairment, negative correlation was found between mood and short-term visuospatial memory. Results of our research reflect the findings of clinical studies whereas short-term and long-term memory excluding working memory can be impaired in multiple sclerosis. Because of incidence of depression and fatigue and the important role of psychological factors in quality of life, more detailed analysis of the relationship between mood, fatigue and cognitive impairment would be required which is planned in the future.

  16. Gastric involvement in systemic sclerosis: a prospective study.

    Science.gov (United States)

    Marie, I; Levesque, H; Ducrotté, P; Denis, P; Hellot, M F; Benichou, J; Cailleux, N; Courtois, H

    2001-01-01

    This study aims to assess the prevalence of gastric electrical activity dysfunction with cutaneous electrogastrography (EGG), disturbances of gastric emptying function using radiopaque pellets, and gastric endoscopic abnormalities in patients with systemic sclerosis (SSc). We also investigate for an association between EGG and gastric-emptying data with clinical manifestations and esophageal motor disturbances. Fasting and postprandial gastric electrical activity was studied in 22 consecutive patients with SSc (17 with and 5 without clinical gastric manifestations) and 22 age- and sex-matched healthy subjects. Gastric emptying of radiopaque pellets and gastroscopy were also performed in SSc patients. The prevalence of EGG disturbances was as high as 81.82% in SSc patients. SSc patients exhibited, compared with controls, higher median percentage of dominant frequency in bradygastria during the fasting period and lower median values for postprandial electrical power and postprandial to fasting ratio for electrical power. Gastric emptying of radiopaque pellets was delayed in 11 SSc patients, and gastroscopy demonstrated "watermelon stomach" in 3 SSc patients. No correlation was found between the severity of gastric impairment and clinical presentation, SSc duration and subsets, and esophageal manometric impairment. Our study underlines the high frequency of gastric dysfunction in SSc patients. It suggests the usefulness of EGG in SSc in noninvasively detecting disorders of gastric electrical activity at an early stage and symptomatic patients with gastroparesis (because there was a correlation between values of postprandial to fasting ratio for electrical power of watermelon stomach diagnosis should be excluded in SSc patients presenting with gastrointestinal hemorrhage or with anemia related to iron deficiency.

  17. Supportive care needs of patients with amyotrophic lateral sclerosis/motor neuron disease and their caregivers: A scoping review.

    Science.gov (United States)

    Oh, Juyeon; Kim, Jung A

    2017-12-01

    To identify the supportive care needs of amyotrophic lateral sclerosis/motor neuron disease patients and their caregivers, categorise and summarise them into a Supportive Care Needs Framework and identify gaps in literature. Little is known about the supportive care needs of amyotrophic lateral sclerosis/motor neuron disease patients and their caregivers, and this subject has not previously been systemically reviewed. Scoping review. We conducted a scoping review from the MEDLINE, EMBASE, CINAHL and Cochrane databases for the period January 2000-July 2016, using the following inclusion criteria: (i) written in English only, (ii) published in peer-reviewed journals, (iii) at least part of the research considered the supportive care needs perspective of amyotrophic lateral sclerosis/motor neuron disease patients or their caregivers and (iv) the population sample included patients of amyotrophic lateral sclerosis/motor neuron disease or their caregivers. Thirty-seven articles were included. Our review shows that amyotrophic lateral sclerosis/motor neuron disease patients and their caregivers' supportive care needs were mentioned across all seven domains of the Supportive Care Needs Framework. Most common were practical needs (n = 24), followed by Informational needs (n = 19), Social needs (n = 18), Psychological needs (n = 16), Physical needs (n = 15), Emotional needs (n = 13) and Spiritual needs (n = 8). From the perspectives of amyotrophic lateral sclerosis/motor neuron disease patients and their caregivers, there is a significant need for more practical, social, informational, psychological, physical, emotional and spiritual support. The Supportive Care Needs Framework has potential utility in the development of patient-centred support services or healthcare policies and serves as an important base for further studies; especially, specific examples of each supportive care needs domain can guide in clinical settings when healthcare professionals

  18. Screening and management of pulmonary arterial hypertension in systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Vivek Nagaraja

    2017-01-01

    Full Text Available Systemic sclerosis-associated pulmonary hypertension (SSc-PH and pulmonary arterial (PA hypertension (SSc-PAH are well-recognized manifestations. SSc-PH is a hemodynamic observation, and it is important to identify underlying etiology. SSc patients commonly have mixed etiology for SSc-PH due to interstitial lung disease, PAH, and left heart disease. SSc-PAH is associated with high morbidity and mortality. Early detection of PAH through routine screening improves survival in patients with SSc. Right heart catheterization is mandatory to diagnose PAH. SSc-PAH patients should be managed by a multidisciplinary team comprising of rheumatologist, pulmonologist, cardiologist, and physiotherapist. Various pharmacotherapy options to treat SSc-PAH are derived from the idiopathic PAH management. Upfront or sequential combination therapy of PAH-specific drugs seems to confer a clinical benefit compared to monotherapy. Cardiopulmonary rehabilitation should be considered as a part of the management plan. Lung transplantation is a consideration in patients who are not responding to pharmacotherapy. Although the long-term prognosis of SSc-PAH has been historically poor, the landscape is gradually changing with early detection and institution of treatment.

  19. Motor System Plasticity and Compensation in Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Daniel Zeller

    2013-07-01

    Full Text Available Multiple sclerosis (MS affects the central nervous system (CNS by inflammatory lesions, direct axonal injury, and by a rather diffuse and widespread neurodegeneration. For a long time, research has mainly focused on these destructive aspects of MS, while the compensatory effects of cellular repair and neural plasticity have received little consideration. However, as current effective immunomodulatory therapies may limit rather than preclude demyelination and axonal damage, additional therapeutic strategies promoting compensation of CNS damage might be of great use for preventing persistent impairment in MS. As a precondition for the development of such strategies, which may encompass pharmacological and behavioural interventions, but also non-invasive stimulation techniques, it seems fundamental to get deeper insights into the mechanisms of plasticity and adaptation at the systemic level. This review will provide a brief overview of what is known about plasticity of the motor system in patients with MS at present, with the main focus relying on evidence from functional imaging, neurophysiology, and motor learning. Overall, rapid-onset motor plasticity seems to be preserved even in advanced stages of the disease. Reorganisation processes, which can be shown early in the course of MS, are functionally relevant for motor compensation. In advanced MS, however, the brain´s adaptive reserve might be exhausted due to exceeding CNS injury. Future studies should address the question of how the later stages of central motor plasticity can be promoted best to preserve the patient´s autonomy for as long as possible.

  20. A critical view on cardiovascular risk in systemic sclerosis.

    Science.gov (United States)

    Psarras, Antonios; Soulaidopoulos, Stergios; Garyfallos, Alexandros; Kitas, George; Dimitroulas, Theodoros

    2017-01-01

    Systemic Sclerosis (SSc) is an autoimmune disorder characterized by microvascular injury and diffuse fibrosis of the skin and internal organs. While macrovascular disease and higher risk for cardiovascular events are well documented in other systemic rheumatic diseases such as rheumatoid arthritis and systemic lupus erythematosus, the presence and extent of atherosclerosis among patients with SSc is yet to be established. Primary cardiac involvement, due to impairment of coronary microvascular circulation and myocardial fibrosis, considerably affects prognosis and life expectancy of individuals with SSc, representing one of the leading causes of death in this population. On the other hand the existence and prevalence of atherosclerotic coronary disease remains an issue of debate as studies comparing structural and morphological markers of atherosclerosis and cardiovascular events between SSc patients and the general population have yielded controversial results. The aim of this review is to summarize recent literature about the prevalence of cardiovascular disease in SSc, review the surrogate markers of CVD that have been evaluated and examine whether common pathogenic mechanisms exist between SSc and macrovascular disease.

  1. Comprometimento do interstício pulmonar em portadores de esclerose sistêmica progressiva: estudo de uma série de 58 casos Interstitial lung disease in patients with progressive systemic sclerosis: a study of 58 cases

    Directory of Open Access Journals (Sweden)

    Sergio Fernandes de Oliveira Jezler

    2005-08-01

    Full Text Available OBJETIVO: Estimar a freqüência de doença intersticial pulmonar em um grupo de indivíduos com esclerose sistêmica progressiva e descrever suas características clínicas, funcionais e radiológicas. MÉTODOS: Após confirmação diagnóstica, 58 pacientes com esclerose sistêmica progressiva foram estudados com tomografia computadorizada de alta resolução, provas de função pulmonar, bem como pesquisa do anti-Scl 70. Foram feitas comparações entre os pacientes com e sem comprometimento intersticial pulmonar e pesquisados possíveis fatores preditivos deste acometimento através de análise multivariada. RESULTADOS: Do total, 51,7% apresentaram evidências de doença intersticial pulmonar na tomografia computadorizada de alta resolução. Dispnéia e tosse foram os sintomas mais relatados, (65,5% e 39,7%, respectivamente. Bronquiolectasias e faveolamento foram as anormalidades tomográficas mais comuns (83,3% e 80,0% respectivamente. Quando comparados com os indivíduos sem doença intersticial pulmonar, os pacientes com este acometimento apresentaram freqüência semelhante de sintomas pulmonares e extrapulmonares, porém apresentaram esclerose sistêmica progressiva de maior duração, estertores crepitantes mais freqüentes, maior positividade de anti-Scl 70, e capacidade vital forçada e pulmonar total reduzidas. Somente uma capacidade vital forçada OBJECTIVE: To estimate the frequency of interstitial lung disease in a group of patients with progressive systemic sclerosis, and to describe the clinical, functional and radiological characteristics of the patients studied. METHODS: Fifty-eight patients diagnosed with progressive systemic sclerosis were submitted to high-resolution computed tomography of the chest, pulmonary function tests and a blood test for anti-Scl 70 antibodies. Comparisons were drawn between patients with interstitial lung disease and those without. Logistic regression with multivariate analysis was used to

  2. Hand and wrist involvement in systemic sclerosis: US features.

    Science.gov (United States)

    Freire, Véronique; Bazeli, Ramin; Elhai, Muriel; Campagna, Raphaël; Pessis, Éric; Avouac, Jérôme; Allanore, Yannick; Drapé, Jean-Luc; Guérini, Henri

    2013-12-01

    To characterize ultrasonographic (US) features in the hand of patients with systemic sclerosis (SSc) and to evaluate the sensitivity of US in the detection of calcinosis and acroosteolysis. The local ethics committee approved this study, and oral informed consent was obtained. A total of 44 consecutive patients with SSc (34 women; mean age, 56.1 years ± 12.1 [standard deviation]; 10 men; mean age, 45.0 years ± 14.0) and 30 healthy control subjects (20 women; mean age, 46.3 years ± 12.1; 10 men; mean age, 39.6 years ± 10.8) were included between October 2010 and December 2011. Bilateral US, including Doppler assessment of the wrists, hands, and fingers, was performed, and presence of synovitis, tenosynovitis with or without a layered appearance, calcifications, acroosteolysis, and distal vascularization was recorded. Radiography of both hands was performed to assess for acroosteolysis and calcinosis. Frequency of US features, sensitivity of US for calcinosis and acroosteolysis, and respective confidence intervals were calculated. Synovitis was found in 17 patients (39%). Tenosynovitis was found in 12 patients (27%), and it had a layered pattern in 15 (41%) of 37 cases. Calcinosis was found in 17 patients (39%) with US, with a sensitivity of 89%. Acroosteolysis was found in nine (20%) patients with US and in 10 (23%) patients with radiography, with 90% sensitivity for US. Distal vascularization was detected in 26 patients (59%) and 30 control subjects (100%) and was in contact with the acroosteolysis bed in seven (78%) of nine patients with SSc. US can be used to assess features of SSc, including synovitis, tenosynovitis, calcinosis, acroosteolysis, and distal vascularization and is sensitive for calcinosis and acroosteolysis detection. A layered pattern (similar to the appearance of an artichoke heart) of tenosynovitis was seen commonly. Online supplemental material is available for this article. © RSNA, 2013.

  3. Systemic sclerosis presenting as CREST syndrome: A case report ...

    African Journals Online (AJOL)

    Systemic sclerosis (SSc) is a chronic multisystem disorder of unknown etiology, characterized by diffuse fibrosis; degenerative changes; and vascular abnormalities in the skin (scleroderma), articular structures, and internal organs especially the esophagus, GI tract, lung, heart, and kidney. We report the case of a 31 years ...

  4. Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis

    NARCIS (Netherlands)

    Mayes, Maureen D.; Bossini-Castillo, Lara; Gorlova, Olga; Martin, Jose Ezequiel; Zhou, Xiaodong; Chen, Wei V.; Assassi, Shervin; Ying, Jun; Tan, Filemon K.; Arnett, Frank C.; Reveille, John D.; Guerra, Sandra; Terue, Maria; Carmona, Francisco David; Gregersen, Peter K.; Lee, Annette T.; Lopez-Isac, Elena; Ochoa, Eguzkine; Carreira, Patricia; Simeon, Carmen Pilar; Castellvi, Ivan; Angel Gonzalez-Gay, Miguel; Zhernakova, Alexandra; Padyukov, Leonid; Aarcon-Riquelme, Marta; Wijmenga, Cisca; Beretta, Lorenzo; Riemekasten, Gabriela; Witte, Torsten; Hunzelmann, Nicolas; Kreuter, Alexander; Distler, Jorg H. W.; Voskuy, Alexandre E.; Schuerwegh, Annemie J.; Hesselstrand, Roger; Nordin, Annika; Airo, Paolo; Lunardi, Claudio; Shiels, Paul; van Laar, Jacob M.; Herrick, Ariane; Worthington, Jane; Denton, Christopher; Wigley, Fredrick M.; Hummers, Laura K.; Varga, John; Hinchcliff, Monique E.; Baron, Murray; Hudson, Marie; Pope, Janet E.; Furst, Daniel E.; Khanna, Dinesh; Phillips, Kristin; Schiopu, Elena; Segal, Barbara M.; Molitor, Jerry A.; Silver, Richard M.; Steen, Virginia D.; Simms, Robert W.; Lafyatis, Robert A.; Fessler, Barn I. J.; Frech, Tracy M.; AlKassab, Firas; Docherty, Peter; Kaminska, Elzbieta; Khalidi, Nader; Jones, Henry Niall; Markland, Janet; Robinson, David; Broen, Jasper; Radstake, Timothy R. D. J.; Fonseca, Carmen; Koeleman, Bobby P.; Martin, Javier

    2014-01-01

    In this study, 1,833 systemic sclerosis (SSc) cases and 3,466 controls were genotyped with the Immunochip array. Classical alleles, amino acid residues, and SNPs across the human leukocyte antigen (HLA) region were imputed and tested. These analyses resulted in a model composed of six polymorphic

  5. Clinical risk assessment of organ manifestations in systemic sclerosis

    DEFF Research Database (Denmark)

    Walker, U A; Tyndall, A; Czirják, L

    2007-01-01

    Systemic sclerosis (SSc) is a multisystem autoimmune disease, which is classified into a diffuse cutaneous (dcSSc) and a limited cutaneous (lcSSc) subset according to the skin involvement. In order to better understand the vascular, immunological and fibrotic processes of SSc and to guide its tre...

  6. Computer-Aided Tomographic Analysis of Interstitial Lung Disease (ILD in Patients with Systemic Sclerosis (SSc. Correlation with Pulmonary Physiologic Tests and Patient-Centred Measures of Perceived Dyspnea and Functional Disability.

    Directory of Open Access Journals (Sweden)

    Fausto Salaffi

    Full Text Available This study was designed (a to evaluate an improved quantitative lung fibrosis score based on a computer-aided diagnosis (CaM system in patients with systemic sclerosis (SSc,-related interstitial lung disease (SSc-ILD, (b to investigate the relationship between physiologic parameters (forced vital capacity [FVC] and single-breath diffusing capacity for carbon monoxide [DLCO], patient-centred measures of dyspnea and functional disability and CaM and visual reader-based (CoVR methods, and (c to identify potential surrogate measures from quantitative and visual HRCT measurement.126 patients with SSc underwent chest radiography, HRCT and PFTs. The following patient-centred measures were obtained: modified Borg Dyspnea Index (Borg score, VAS for breathing, and Health Assessment Questionnaire-Disability Index (HAQ-DI. HRCT abnormalities were scored according to the conventional visual reader-based score (CoVR and by a CaM. The relationships among the HRCT scores, physiologic parameters (FVC and DLCO, % predicted results and patient-centred measures, were calculated using linear regression analysis and Pearson's correlation. Multivariate regression models were performed to identify the predictor variables on severity of pulmonary fibrosis.Subjects with limited cutaneous SSc had lower HAQ-DI scores than subjects with diffuse cutaneous SSc (p <0.001. CaM and CoVR scores were similar in the 2 groups. In univariate analysis, a strong correlation between CaM and CoVR was observed (p <0.0001. In multivariate analysis the CaM and CoVR scores were predicted by DLco, FVC, Borg score and HAQ-DI. Age, sex, disease duration, anti-topoisomerase antibodies and mRSS were not significantly associated with severity of pulmonary fibrosis on CaM- and CoVR methods.Although a close correlation between CaM score results and CoVR total score was found, CaM analysis showed a more significant correlation with DLco (more so than the FVC, patient-centred measures of perceived

  7. Association of TRPM Channel Gene Polymorphisms with Systemic Sclerosis.

    Science.gov (United States)

    Oztuzcu, Serdar; Onat, Ahmet M; Pehlivan, Yavuz; Alibaz-Oner, Fatma; Donmez, Salim; Cetin, Gozde Y; Yolbas, Servet; Bozgeyik, Ibrahim; Yilmaz, Neslihan; Ozgen, Metin; Cagatay, Yonca; Kisacik, Bunyamin; Koca, Suleyman S; Pamuk, Omer Nuri; Sayarlioglu, Mehmet; Direskeneli, Haner; Demiryurek, Abdullah T

    2015-01-01

    Systemic sclerosis (SSc) is an inflammatory disease characterized by vascular abnormalities and fibrosis. The aim of the present study was to investigate the possible role of transient receptor potential melastatin (TRPM) channel genes in the susceptibility and phenotype expression of SSc. A total of 339 patients with SSc and 302 healthy controls were studied. Genomic DNA was extracted from leukocytes of the peripheral blood, and 25 single nucleotide polymorphisms in the TRPM channel genes were analyzed by the BioMark HD dynamic array system. There were marked increases in the CC genotype (94.7% vs 81.8%, pTRPM5 rs34551253 (Ala456Thr) polymorphism in SSc patients when compared to controls. TRPM3 gene rs1328142 polymorphism was also markedly associated with disease phenotype. However, no associations with the other 23 polymorphisms studied were found. This is the first study to examine the involvement of TRPM channel gene variations on the risk of SSc incidence. Our results suggest roles of TRPM3 and TRPM5 gene variants in the susceptibility to or clinical expression of SSc in the Turkish population. Copyright © 2015 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

  8. The Comparison Study of Contralateral Transient Evoked Otoacoustic Emission (TEOAE Suppression in Normal Hearing Subjects and Multiple Sclerosis Patients

    Directory of Open Access Journals (Sweden)

    KH Mohamadkhani

    2007-01-01

    Full Text Available ABSTRACT: Introduction & Objective: A common auditory complaint of multiple sclerosis patients, is misunderstanding speech in the presence of background noise. Evidence from animal and human studies has suggested that the medial olivocochlear bundle may play an important role in hearing noise. The medial olivocochlear bundle function can be evaluated by the suppression effect of transient otoacoustic emission in response to contralateral acoustic stimulation. The present study was conducted to investigate the suppression effect of transient otoacoustic emission in multiple sclerosis patients. Materials & Methods: This analytical case-control study was conducted on 34 multiple sclerosis patients (24 female, 10 male, aged 20-50 years and 34 controls matched for age and gender in Faculty of Rehabilitation, Tehran University of Medical Sciences in 2006. All cases were selected in simple random manner. The suppression effect of transient otoacoustic emission was evaluated by comparing the transient otoacoustic emission levels with and without contralateral acoustic stimulation. Data were analyzed using SPSS software and independent T- test. Results:There was no significant difference in transient otoacoustic emission levels of two groups, but a significantly reduced suppression effect of transient otoacoustic emission was found in multiple sclerosis patients, in compare with the controls. Conclusion: Outer hair cells activity in multiple sclerosis patients was normal but these patients presented low activity of the medial olivocochlear bundle system which could affect their ability to hear in the presence of background noise.

  9. Survival of patients with multiple sclerosis in Denmark

    DEFF Research Database (Denmark)

    Brønnum-Hansen, Henrik; Koch-Henriksen, Nils; Hyllested, K

    1994-01-01

    We estimated survival probability and excess death rates for patients with MS on the basis of data from the Danish Multiple Sclerosis Registry, which includes virtually all patients diagnosed with MS in Denmark (population, five million) since 1948. We reviewed and reclassified all case records...... in women (versus 46 years). The median survival time from diagnosis was 22 years in men (versus 37 years) and 28 years in women (versus 42 years). The excess death rate between onset and follow-up (observed deaths per 1,000 person-years minus the expected number of deaths in a matched general population...

  10. Cytokine concentrations in serum and bronchoalveolar lavage as marker for pathogenesis and prognosis in systemic sclerosis

    OpenAIRE

    Schmidt, Katrin

    2010-01-01

    Systemic sclerosis (SSc) is a rare connective tissue disease characterized by increased production of extracellular matrix, endothelial dysfunction and immunity abnormalities. SSc is considered as a devastating multiorgan disease of unknown etiology with an autoimmunological background. In the present work we have measured levels of cytokines and chemokines in bronchoalveolar lavage fluid (BALF) and serum in cohorts of Ssc-patients, patients with other lung diseases and healthy donors. We...

  11. Association of methylenetetrahydrofolate reductase A1298C polymorphism but not of C677T with multiple sclerosis in Tunisian patients.

    Science.gov (United States)

    Fekih Mrissa, Najiba; Mrad, Meriem; Klai, Sarra; Zaouali, Jamel; Sayeh, Aycha; Mazigh, Chakib; Nsiri, Brahim; Machgoul, Salem; Gritli, Nasreddine; Mrissa, Ridha

    2013-09-01

    Multiple sclerosis (MS) is a chronic neurological disease characterized by central nervous system (CNS) inflammation and demyelination of nerve axons. The aim of this study was to investigate a possible association between the methylenetetrahydrofolate reductase (MTHFR) gene and multiple sclerosis in Tunisian patients. The genotyping of two missense variants of the methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C was performed in 80 multiple sclerosis patients and 200 healthy controls. No significant differences were found in the frequency of the MTHFR C677T polymorphism between MS patients and healthy controls. However, the genotype prevalence of the missense variant MTHFR A1298C was significantly different between patients and controls (A/C: 55% versus 7%, pMTHFR C677T variants and MS, there is evidence to suggest a significant association between the MTHFR A1298C polymorphisms and MS. Copyright © 2013 Elsevier B.V. All rights reserved.

  12. Cognitive reserve and patient-reported outcomes in multiple sclerosis.

    Science.gov (United States)

    Schwartz, Carolyn E; Snook, Erin; Quaranto, Brian; Benedict, Ralph H B; Vollmer, Timothy

    2013-01-01

    Adaptation and compensation in the face of changing pathology may be better understood by considering the concept of cognitive reserve, which may protect against disability in multiple sclerosis (MS). The present work investigates the relationship between cognitive reserve and demographic characteristics, health behaviors, and patient-reported outcomes (PROs). Cross-sectional data (n=1142) were drawn from the North American Research Committee on MS (NARCOMS) Registry, from whom additional survey data were collected. Cognitive reserve was measured using the Stern and Sole-Padulles measures, the O*NET occupational classification system, and the Godin Leisure-Time Exercise Questionnaire. PROs were assessed using generic (SF -12v2, Perceived Deficits Questionnaire, Ryff Psychological Well-Being, Diener Satisfaction with Life Scale) and disease-specific (Patient-Determined Disease Steps, Performance Scales) measures. Psychometric analysis created unidimensional cognitive reserve subscales. Regression models examined relationships between cognitive reserve, demographic characteristics, and PROs. The cognitive reserve measures assessed distinct but related constructs. Individuals with high cognitive reserve were more likely to report lower levels of perceived disability and perceived cognitive deficits, and higher levels of physical health, mental health, and well-being. Both active and passive reserve are associated with better outcomes, independent of demographic factors, and these associations apply to both generic and disease-specific outcomes. This expanded measurement of cognitive reserve captures both the passive and active aspects of the construct, and there is a consistent and substantial relationship with PROs. Individuals with high passive and/or active reserve are healthier and experience higher levels of well-being.

  13. Identification of Biomarkers in Cerebrospinal Fluid and Serum of Multiple Sclerosis Patients by Immunoproteomics Approach

    Directory of Open Access Journals (Sweden)

    Paolo Colomba

    2014-12-01

    Full Text Available Multiple sclerosis (MS is an autoimmune inflammatory demyelinating disease of the central nervous system. At present, the molecular mechanisms causing the initiation, development and progression of MS are poorly understood, and no reliable proteinaceous disease markers are available. In this study, we used an immunoproteomics approach to identify autoreactive antibodies in the cerebrospinal fluid of MS patients to use as candidate markers with potential diagnostic value. We identified an autoreactive anti-transferrin antibody that may have a potential link with the development and progression of MS. We found this antibody at high levels also in the serum of MS patients and created an immunoenzymatic assay to detect it. Because of the complexity and heterogeneity of multiple sclerosis, it is difficult to find a single marker for all of the processes involved in the origin and progression of the disease, so the development of a panel of biomarkers is desirable, and anti-transferrin antibody could be one of these.

  14. A Telerehabilitation Program Improves Postural Control in Multiple Sclerosis Patients: A Spanish Preliminary Study

    Directory of Open Access Journals (Sweden)

    Rosa Ortiz-Gutiérrez

    2013-10-01

    Full Text Available Postural control disorders are among the most frequent motor disorder symptoms associated with multiple sclerosis. This study aims to demonstrate the potential improvements in postural control among patients with multiple sclerosis who complete a telerehabilitation program that represents a feasible alternative to physical therapy for situations in which conventional treatment is not available. Fifty patients were recruited. Control group (n = 25 received physiotherapy treatment twice a week (40 min per session. Experimental group (n = 25 received monitored telerehabilitation treatment via videoconference using the Xbox 360® and Kinect console. Experimental group attended 40 sessions, four sessions per week (20 min per session.The treatment schedule lasted 10 weeks for both groups. A computerized dynamic posturography (Sensory Organization Test was used to evaluate all patients at baseline and at the end of the treatment protocol. Results showed an improvement over general balance in both groups. Visual preference and the contribution of vestibular information yielded significant differences in the experimental group. Our results demonstrated that a telerehabilitation program based on a virtual reality system allows one to optimize the sensory information processing and integration systems necessary to maintain the balance and postural control of people with multiple sclerosis. We suggest that our virtual reality program enables anticipatory PC and response mechanisms and might serve as a successful therapeutic alternative in situations in which conventional therapy is not readily available.

  15. An update on neuro-ophthalmology of multiple sclerosis: the visual system as a model to study multiple sclerosis.

    Science.gov (United States)

    Qureshi, Sara S; Beh, Shin C; Frohman, Teresa C; Frohman, Elliot M

    2014-06-01

    The purpose of this review is to familiarize the reader with the landscape of current neuro-ophthalmology research in the field of multiple sclerosis and to highlight important findings, directions of future research and advances in the clinical management of visual and ocular motor manifestations of multiple sclerosis. Research pertaining to the visual system in multiple sclerosis has identified new biomarkers of disease and is contributing to a better understanding of disease mechanisms. Progress has been made in the symptomatic management of visual manifestations of multiple sclerosis and visual outcome measures are now being included in clinical trials, with important quality of life ramifications. Perhaps the most prominent contribution from neuro-ophthalmology research in multiple sclerosis has been the establishment of the visual system as a model to study disease pathogenesis, and for the systematic, objective, and longitudinal detection and monitoring of protective and restorative neurotherapeutic strategies. The emergence of these sophisticated capabilities has been in large part due to the application of high speed, high definition, and objective methods for the elucidation of both the structure and function of visual system networks. Advances in neuro-ophthalmology research in multiple sclerosis have led to the establishment of the visual system as a model to objectively study disease pathogenesis, and for the identification of novel neurotherapeutic capabilities. With the prospects of myelin repair and neuroprotective agents increasingly becoming recognized as achievable goals, the validation and utility of new visual outcome measures quantifying changes in axonal integrity, myelin protection, and repair will likely prove invaluable.

  16. Coronaviruses in brain tissue from patients with multiple sclerosis

    DEFF Research Database (Denmark)

    Dessau, R B; Lisby, G; Frederiksen, J L

    2001-01-01

    Brain tissue from 25 patients with clinically definite multiple sclerosis (MS) and as controls brain tissue from 36 patients without neurological disease was tested for the presence of human coronaviral RNA. Four PCR assays with primers specific for N-protein of human coronavirus strain 229E...... and three PCR assays with primers specific for the nucleocapsid protein of human coronavirus strain OC43 were performed. Sporadic positive PCR assays were observed in both patients and controls in some of the PCR assays. However, these results were not reproducible and there was no difference...... in the proportion of positive signals from the MS patients compared to controls. Evidence for a chronic infection with the human coronaviruses strain 229E or OC43 in brain tissue from patients with MS or controls has not been found in this study....

  17. Multiple Sclerosis

    Science.gov (United States)

    Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the ... attacks healthy cells in your body by mistake. Multiple sclerosis affects women more than men. It often begins ...

  18. X-irradiation of thyroid during therapy of patients with multiple sclerosis

    International Nuclear Information System (INIS)

    Agte, B.S.; Efimova, A.S.; Kalmykova, T.N.; Bajkova, V.P.

    1985-01-01

    X-radiation of 27 patients with thyroid at acute therapeutically resistant, progradient form of multiple sclerosis has been applied. Indistinct therapeutic effect attributed to depression of auto-aggressive allergic processes in cerebrospinal formations is noted in 20 patients after one or two courses of radiotherapy. The method can be used in complex therapy of progradient forms of multiple sclerosis

  19. Risk of Multiple Sclerosis in Patients with Psoriasis

    DEFF Research Database (Denmark)

    Egeberg, Alexander; Mallbris, Lotus; Gislason, Gunnar Hilmar

    2016-01-01

    Psoriasis and multiple sclerosis (MS) are inflammatory disorders with similarities in genetic risk variants and inflammatory pathways. Limited evidence is available on the relationship between the two diseases. We therefore investigated the risk of incident (new-onset) MS in patients with mild...... and severe psoriasis, respectively. All Danish citizens aged ≥18 years from January 1, 1997 to December 31, 2011 were identified by linkage of nationwide registries at the individual level. We estimated incidence rate ratios (IRRs) adjusted for age, gender, socio-economic status, smoking, medication...

  20. Cross-diagnostic validity of the SF-36 physical functioning scale in patients with stroke, multiple sclerosis and amyotrophic lateral sclerosis: a study using Rasch analysis

    NARCIS (Netherlands)

    Dallmeijer, Annet J.; de Groot, Vincent; Roorda, Leo D.; Schepers, Vera P. M.; Lindeman, Eline; van den Berg, Leonard H.; Beelen, Anita; Dekker, Joost

    2007-01-01

    The aim of this study was to investigate unidimensionality and differential item functioning of the SF-36 physical functioning scale (PF10) in patients with various neurological disorders. Patients: Patients post-stroke (n = 198), with multiple sclerosis (n = 151) and amyotrophic lateral sclerosis

  1. Low bone density in systemic sclerosis. A systematic review.

    Science.gov (United States)

    Omair, Mohammed A; Pagnoux, Christian; McDonald-Blumer, Heather; Johnson, Sindhu R

    2013-11-01

    The effect of systemic sclerosis (SSc) on bone density is not well understood. Through systematic review of the literature, the objectives of this study were to synthesize data about the prevalence of low bone mineral density (BMD), risk factors for low BMD, and occurrence of fracture and fracture-related mortality in SSc. A search was conducted of MEDLINE (1948-2012), Evidence Based Medicine Reviews (1991-2012), EMBASE (1980-2012), and CINAHL (1981-2012). Abstracts were screened to identify studies that evaluated low BMD in patients with SSc. Two investigators independently used a standardized form to abstract prevalence of osteopenia and osteoporosis (OP); risk factors for low BMD, BMD measurements, frequency of fracture, and fracture-related mortality. Screening of 1032 citations identified 19 articles. Fifteen studies compared patients with SSc to controls. Most patients were white, female (prevalence 74%-100%), and postmenopausal (prevalence 45.9%-100%). The prevalence of low BMD and OP was 27%-53.3% and 3%-51.1%, respectively. Ten studies reported a lower BMD in patients with SSc compared to matched controls, whereas 2 studies reported no difference. Candidate risk factors for low BMD in SSc include family history of OP, age, menopause, diffuse subtype, presence of internal organ involvement, low vitamin D levels, and calcinosis. However, the studies supporting these factors were conflicting. Fracture rate ranged between 0% and 38%. No study reported OP-related fracture mortality. The data suggest that patients with SSc are at risk of low BMD and fracture, especially when other risk factors for OP are present. The interaction of SSc manifestations, traditional OP risk factors, and clinically relevant outcomes is complex and warrants further research.

  2. Analyzing differences between patient and proxy on Patient Reported Outcomes in multiple sclerosis.

    Science.gov (United States)

    Sonder, Judith M; Holman, Rebecca; Knol, Dirk L; Bosma, Libertje V A E; Polman, Chris H; Uitdehaag, Bernard M J

    2013-11-15

    Proxy respondents, partners of multiple sclerosis (MS) patients, can provide valuable information on the MS patients' disease. In an earlier publication we found relatively good agreement on patient reported outcomes (PROs) measuring physical impact and functioning, but we found large differences on (neuro)psychological scales. We aim to identify patient and proxy related variables explaining differences between patients' and proxies' ratings on five PROs. We report on data from 175 MS patients and proxy respondents. Regression analyses were performed, using as dependent variable the mean differences on five scales: Physical and Psychological scale of the Multiple Sclerosis Impact Scale (MSIS-29), the Multiple Sclerosis Walking Scale (MSWS), Guy's Neurological Disability Scale (GNDS) and the Multiple Sclerosis Neuropsychological Screening Questionnaire (MSNQ). The independent variables were patient, proxy and disease related variables. Caregiver strain was significantly related to differences between patient and proxy scores for all five PROs. A higher level of patient anxiety on the HADS was linked to larger differences on all PROs except the GNDS. In addition, cognitive functioning, proxy depression, walking ability, proxy gender and MS related disability were contributing to the discrepancies. We found several patient and proxy factors that may contribute to discrepancies between patient and proxy scores on MS PROs. The most important factor is caregiver burden. © 2013 Elsevier B.V. All rights reserved.

  3. Is impaired cerebral vasoreactivity an early marker of cognitive decline in multiple sclerosis patients?

    Science.gov (United States)

    Metzger, Aude; Le Bars, Emmanuelle; Deverdun, Jeremy; Molino, François; Maréchal, Bénédicte; Picot, Marie-Christine; Ayrignac, Xavier; Carra, Clarisse; Bauchet, Luc; Krainik, Alexandre; Labauge, Pierre; Menjot de Champfleur, Nicolas

    2018-03-01

    The link between cerebral vasoreactivity and cognitive status in multiple sclerosis remains unclear. The aim of the present study was to investigate a potential decrease of cerebral vasoreactivity in multiple sclerosis patients and correlate it with cognitive status. Thirty-three patients with multiple sclerosis (nine progressive and 24 remitting forms, median age: 39 years, 12 males) and 22 controls underwent MRI with a hypercapnic challenge to assess cerebral vasoreactivity and a neuropsychological assessment. Cerebral vasoreactivity, measured as the cerebral blood flow percent increase normalised by end-tidal carbon dioxide variation, was assessed globally and by regions of interest using the blood oxygen level-dependent technique. Non-parametric statistics tests were used to assess differences between groups, and associations were estimated using linear models. Cerebral vasoreactivity was lower in patients with cognitive impairment than in cognitively normal patients (p=0.004) and was associated with education level in patients (R 2 = 0.35; p = 0.047). There was no decrease in cerebral vasoreactivity between patients and controls. Cognitive impairment in multiple sclerosis may be mediated through decreased cerebral vasoreactivity. Cerebral vasoreactivity could therefore be considered as a marker of cognitive decline in multiple sclerosis. • Cerebral vasoreactivity does not differ between multiple sclerosis patients and controls. • Cerebral vasoreactivity measure is linked to cognitive impairment in multiple sclerosis. • Cerebral vasoreactivity is linked to level of education in multiple sclerosis.

  4. Anesthetic management of a patient with multiple sclerosis - case report

    Directory of Open Access Journals (Sweden)

    Eduardo Barbin Zuccolotto

    Full Text Available Abstract Background and objectives: Multiple sclerosis is a demyelinating disease of the brain and spinal cord, characterized by muscle weakness, cognitive dysfunction, memory loss, and personality disorders. Factors that promote disease exacerbation are stress, physical trauma, infection, surgery, and hyperthermia. The objective is to describe the anesthetic management of a case referred to urological surgery. Case report: A female patient, 44 years of age, with multiple sclerosis, diagnosed with nephrolithiasis, referred for endoscopic ureterolythotripsy. Balanced general anesthesia was chosen, with midazolam, propofol and remifentanil target-controlled infusion; sevoflurane via laryngeal mask airway; and spontaneous ventilation. Because the patient had respiratory difficulty presenting with chest wall rigidity, it was decided to discontinue the infusion of remifentanil. There was no other complication or exacerbation of disease postoperatively. Conclusion: The use of neuromuscular blockers (depolarizing and non-depolarizing is a problem in these patients. As there was no need for muscle relaxation in this case, muscle relaxants were omitted. We conclude that the combination of propofol and sevoflurane was satisfactory, not resulting in hemodynamic instability or disease exacerbation.

  5. Interleukin-10 promoter polymorphisms in patients with multiple sclerosis.

    Science.gov (United States)

    Myhr, Kjell-Morten; Vågnes, Kari S; Marøy, Tove H; Aarseth, Jan H; Nyland, Harald I; Vedeler, Christian A

    2002-10-15

    The expression level of interleukin-10 (IL-10) is related to polymorphisms -1082 (G/A), -819 (T/C) and -592 (A/C) in the promoter region of the IL-10 gene. The distribution of these polymorphisms was analyzed to determine whether they could influence disease susceptibility or clinical course in multiple sclerosis (MS). The -1082 (G/A), -819 (T/C) and -592 (A/C) genotypes were similarly distributed between MS patients and the controls. The primary progressive MS patients with the low IL-10 expression haplotype showed a trend towards a worse clinical outcome than did patients with medium- or high-expression haplotypes (P = 0.056). The polymorphisms did not influence the clinical course in patients with relapsing-remitting MS. Copyright 2002 Elsevier Science B.V.

  6. Hippocampal GABA transporter distribution in patients with temporal lobe epilepsy and hippocampal sclerosis.

    Science.gov (United States)

    Schijns, Olaf; Karaca, Ümit; Andrade, Pablo; de Nijs, Laurence; Küsters, Benno; Peeters, Andrea; Dings, Jim; Pannek, Heinz; Ebner, Alois; Rijkers, Kim; Hoogland, Govert

    2015-10-01

    To determine hippocampal expression of neuronal GABA-transporter (GAT-1) and glial GABA-transporter (GAT-3) in patients with temporal lobe epilepsy (TLE) and hippocampal sclerosis (HS). Hippocampal sections were immunohistochemically stained for GABA-transporter 1 and GABA-transporter-3, followed by quantification of the immunoreactivity in the hilus by optical density measurements. GABA-transporter 3 positive hilar cells were counted and GABA-transporter protein expression in sections that included all hippocampal subfields was quantified by Western blot. The hilar GABA-transporter 1 expression of patients with severe hippocampal sclerosis was about 7% lower compared to that in the mild hippocampal sclerosis/control group (psclerosis group than in the mild hippocampal sclerosis/control group (non-significant). Also, severe hippocampal sclerosis samples contained 34% less (non-significant) GABA-transporter 3 positive cells compared to that of controls. Protein expression as assessed by Western blot showed that GABA-transporter 1 was equally expressed in mild and severe hippocampal sclerosis samples, whereas GABA-transporter 3 was reduced by about 62% in severe hippocampal sclerosis samples (psclerosis. Implications for the use of GABAergic antiepileptic therapies in hippocampal sclerosis vs non-hippocampal sclerosis patients remain to be studied. Copyright © 2015 Elsevier B.V. All rights reserved.

  7. Quality of life in patients with multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Ilić Darko

    2011-01-01

    Full Text Available Background: Quality of life assessment in patients with Multiple sclerosis (MS is invaluable for a proper evaluation of disease severity, appropriate choice of therapy and monitoring of its effects. The aim of this study was to assess the quality of life of patients with MS and to identify gender differences in examined outcome. Patients and Methods: A descriptive cross-sectional study was conducted from August 2010 to May 2011. The data were obtained by anonymous survey of 110 patients. Quality of life of the patients was measured by the instrument 'The World Health Organization Quality of Life (WHOQOL - BREF'. Data on gender and age of patients, type of MS, the number of relapses during the last 2 years, current therapy, dose regimens of certain drugs, and the amount of money the patients spend each month for the purchase of drugs that are not issued at the expense of health insurance fund, were obtained using a distinct structured questionnaire. The collected data were analyzed using simple descriptive statistics and Student's t-test for independent samples. Results: Of the total 110 interviewed patients, 70% (n = 77 were female and 30% (n = 33 male. There were no significant gender differences in the disease duration, number of relapses in the last two years and spending of more than 1000 RSD per month for purchase of drugs that were not issued at the expense of the health insurance fund. Significantly better quality of life was recorded in women than men (p = 0.031, mainly on account of differences in the assessment of the domain of 'Environment' (p = 0.025, as measured by WHOQOL-BREF scale. Conclusion: This study has shown that females tolerate difficulties caused by multiple sclerosis better than men, and also have a better quality of life than men with the same clinical form of the disease and identical symptoms, treated with the same therapy. .

  8. Abscisic acid ameliorates the systemic sclerosis fibroblast phenotype in vitro

    Energy Technology Data Exchange (ETDEWEB)

    Bruzzone, Santina, E-mail: santina.bruzzone@unige.it [Department of Experimental Medicine, Section of Biochemistry, University of Genova, Viale Benedetto XV 1, 16132 Genova (Italy); Centre of Excellence for Biomedical Research, University of Genova, Viale Benedetto XV 9, 16132 Genova (Italy); Advanced Biotechnology Center, Largo Rosanna Benzi 10, 16132 Genova (Italy); Battaglia, Florinda [Centre of Excellence for Biomedical Research, University of Genova, Viale Benedetto XV 9, 16132 Genova (Italy); Mannino, Elena [Department of Experimental Medicine, Section of Biochemistry, University of Genova, Viale Benedetto XV 1, 16132 Genova (Italy); Parodi, Alessia [Centre of Excellence for Biomedical Research, University of Genova, Viale Benedetto XV 9, 16132 Genova (Italy); Fruscione, Floriana [Department of Experimental Medicine, Section of Biochemistry, University of Genova, Viale Benedetto XV 1, 16132 Genova (Italy); Advanced Biotechnology Center, Largo Rosanna Benzi 10, 16132 Genova (Italy); Basile, Giovanna [Department of Experimental Medicine, Section of Biochemistry, University of Genova, Viale Benedetto XV 1, 16132 Genova (Italy); Salis, Annalisa; Sturla, Laura [Department of Experimental Medicine, Section of Biochemistry, University of Genova, Viale Benedetto XV 1, 16132 Genova (Italy); Centre of Excellence for Biomedical Research, University of Genova, Viale Benedetto XV 9, 16132 Genova (Italy); Negrini, Simone; Kalli, Francesca; Stringara, Silvia [Centre of Excellence for Biomedical Research, University of Genova, Viale Benedetto XV 9, 16132 Genova (Italy); Filaci, Gilberto [Centre of Excellence for Biomedical Research, University of Genova, Viale Benedetto XV 9, 16132 Genova (Italy); Department of Internal Medicine, Viale Benedetto XV 6, 16132 Genova (Italy); and others

    2012-05-25

    Highlights: Black-Right-Pointing-Pointer ABA is an endogenous hormone in humans, regulating different cell responses. Black-Right-Pointing-Pointer ABA reverts some of the functions altered in SSc fibroblasts to a normal phenotype. Black-Right-Pointing-Pointer UV-B irradiation increases ABA content in SSc cultures. Black-Right-Pointing-Pointer SSc fibroblasts could benefit from exposure to ABA and/or to UV-B. -- Abstract: The phytohormone abscisic acid (ABA) has been recently identified as an endogenous hormone in humans, regulating different cell functions, including inflammatory processes, insulin release and glucose uptake. Systemic sclerosis (SSc) is a chronic inflammatory disease resulting in fibrosis of skin and internal organs. In this study, we investigated the effect of exogenous ABA on fibroblasts obtained from healthy subjects and from SSc patients. Migration of control fibroblasts induced by ABA was comparable to that induced by transforming growth factor-{beta} (TGF-{beta}). Conversely, migration toward ABA, but not toward TGF-{beta}, was impaired in SSc fibroblasts. In addition, ABA increased cell proliferation in fibroblasts from SSc patients, but not from healthy subjects. Most importantly, presence of ABA significantly decreased collagen deposition by SSc fibroblasts, at the same time increasing matrix metalloproteinase-1 activity and decreasing the expression level of tissue inhibitor of metalloproteinase (TIMP-1). Thus, exogenously added ABA appeared to revert some of the functions altered in SSc fibroblasts to a normal phenotype. Interestingly, ABA levels in plasma from SSc patients were found to be significantly lower than in healthy subjects. UV-B irradiation induced an almost 3-fold increase in ABA content in SSc cultures. Altogether, these results suggest that the fibrotic skin lesions in SSc patients could benefit from exposure to high(er) ABA levels.

  9. The Role of PPAR Gamma in Systemic Sclerosis

    Directory of Open Access Journals (Sweden)

    Andréa Tavares Dantas

    2015-01-01

    Full Text Available Fibrosis is recognized as an important feature of many chronic diseases, such as systemic sclerosis (SSc, an autoimmune disease of unknown etiology, characterized by immune dysregulation and vascular injury, followed by progressive fibrosis affecting the skin and multiple internal organs. SSc has a poor prognosis because no therapy has been shown to reverse or arrest the progression of fibrosis, representing a major unmet medical need. Recently, antifibrotic effects of PPARγ ligands have been studied in vitro and in vivo and some theories have emerged leading to new insights. Aberrant PPARγ function seems to be implicated in pathological fibrosis in the skin and lungs. This antifibrotic effect is mainly related to the inhibition of TGF-β/Smad signal transduction but other pathways can be involved. This review focused on recent studies that identified PPARγ as an important novel pathway with critical roles in regulating connective tissue homeostasis, with emphasis on skin and lung fibrosis and its role on systemic sclerosis.

  10. Penile involvement in Systemic Sclerosis: New Diagnostic and Therapeutic Aspects

    Directory of Open Access Journals (Sweden)

    Antonio Aversa

    2010-01-01

    Full Text Available Systemic Sclerosis (SSc is a connective tissue disorder featuring vascular alterations and an immunological activation leading to a progressive and widespread fibrosis of several organs such as the skin, lung, gastrointestinal tract, heart, and kidney. Men with SSc are at increased risk of developing erectile dysfunction (ED because of the evolution of early microvascular tissutal damage into corporeal fibrosis. The entity of penile vascular damage in SSc patients has been demonstrated by using Duplex ultrasonography and functional infra-red imaging and it is now clear that this is a true clinical entity invariably occurring irrespective of age and disease duration and constituting the ‘‘sclerodermic penis’’. Once-daily phosphodiesterase type-5 (PDE5 inhibitors improve both sexual function and vascular measures of cavernous arteries by improving surrogate markers of endothelial dysfunction, that is, plasma endothelin-1 and adrenomedullin levels, which may play a potential role in preventing progression of penile fibrosis and ED. Also, the beneficial effect of long-term PDE5i add-on therapy to SSc therapy in the treatment of Raynaud's phenomenon is described.

  11. Evaluation of quatitative scintigraphic method in diagnosis of esophagic involvement of Progressive Systemic Sclerosis

    International Nuclear Information System (INIS)

    Von Muehlen, C.A.

    1985-01-01

    Twenty patients with Progressive Systemic Sclerosis are studied by scintigraphic methodology. The esophageal transit method is used for liquid and solid meals. The results are compared with the ones of a control group, without or not gastrintestinal problems but without autoimmune diasese. 99 sup(m)Tc-sulfurcolloid is used as labelling compound. The studies were done in supine and orthostatical position. (M.A.C.) [pt

  12. Motor System Plasticity and Compensation in Multiple Sclerosis

    OpenAIRE

    Daniel Zeller

    2015-01-01

    Multiple sclerosis (MS) affects the central nervous system (CNS) by inflammatory lesions, direct axonal injury, and by a rather diffuse and widespread neurodegeneration. For a long time, research has mainly focused on these destructive aspects of MS, while the compensatory effects of cellular repair and neural plasticity have received little consideration. However, as current effective immunomodulatory therapies may limit rather than preclude demyelination and axonal damage, additional therap...

  13. Feasibility, acceptability and construct validity of EQ-5D in systemic sclerosis.

    Science.gov (United States)

    Gualtierotti, Roberta; Ingegnoli, Francesca; Scalone, Luciana; Cortesi, Paolo; Bruschi, Eleonora; Gerosa, Maria; Meroni, Pier Luigi

    2017-01-19

    Systemic sclerosis is a chronic disabling disease that is often associated with severe physical and psychological impairment. Nonetheless, health-related quality of life (HRQoL) in patients with systemic sclerosis is often left behind in clinical practice and research. One of the reasons for this lack of evaluation is the current use of tools, such as the short form-36 (SF-36) questionnaire, that are complete but complicated to use in everyday routine. Other self-reported outcome measures such as the health assessment questionnaire (HAQ) are simple, but specifically designed for physical disability. Our aim was to evaluate the feasibility, acceptability and construct validity of EQ-5D, a simple and quick self-assessment tool, and to compare its performance with SF-36 and HAQ. We investigated 119 consecutive patients with systemic sclerosis (94% female; age: median 63 years, interquartile range 53-70 years) at three different rheumatology centres. Acceptability was evaluated from comments made by the patients and feasibility on the basis of the number of patients needing assistance or not answering questions (missing data). Construct validity was based on both convergent and divergent validity between conceptually similar and dissimilar domains, respectively, of the compared instruments. EQ-5D was well accepted by patients. The percentage of patients missing data in at least one EQ-5D domain was 2.5%. Spearman's correlation coefficients between similar dimensions of EQ-5D vs SF-36 and vs HAQ were moderate (≥0.30) to strong (≥0.50); in contrast, correlation coefficients between less comparable dimensions were weak. As expected, the EQ-5D anxiety/depression domain did not correlate with any of the HAQ domains. The EQ-5D visual analogue scale (VAS) concordance with SF-36 general health domain and HAQ total score was strong (≥0.50 for both). Median value for the EQ-5D index (interquartile range) was 0.81 (0.75-0.86). The EQ-5D index had correlation coefficients >0

  14. The effect of core stability exercises on functional capacity and fatigue in patients with multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Hosein Shahrokhi

    2017-06-01

    Full Text Available Background : Multiple sclerosis (MS is a chronic progressive disease on the central nervous system with signs and symptoms such as fatigue and reduced functional capacity. The purpose of this study was to assess the effect of core stability exercises on functional capacity and fatigue in patients with multiple sclerosis. Materials and Methods: The present quasi-experimental study used a pretest-posttest design. The subjects with the age of 20-40, expanded disability status scale (EDSS 1-4 and purposefully and voluntarily selected and randomly allocated to the experimental and control groups. Training program for groups were carried out in eight weeks, three sessions per week and each session one hour. Functional reach test (FR was used to measure functional capacity and Fatigue Severity Scale (FSS was used to measure fatigue. The data were analyzed by paired and independent sample t-test at a significance level of 0.05. Results: The results showed that core stability training led to a significant increase in functional capacity and a significant reduction in fatigue (P≤ 0.05. Also significant differences observed in functional capacity and fatigue scale in post-test between experimental and control groups (P≤ 0.05. Conclusion: According to research findings, the core stability exercises can be factor for considerable improvement in functional capacity and reduced fatigue in patients with multiple sclerosis.   . Furthermore, the respective specialists can use these exercise as a complementary treatment along with the drug therapy for patients with multiple sclerosis.

  15. Analysis of parahippocampal gyrus in 115 patients with hippocampal sclerosis

    Directory of Open Access Journals (Sweden)

    Ferreira Nelson Fortes

    2003-01-01

    Full Text Available PURPOSE: Analysis of the parahippocampal gyrus (PHG involvement in 115 patients with hippocampal sclerosis (HS by MR imaging. The simultaneous occurrence of ipsilateral fornix (F and mamillary body (MB volume loss was checked also. These findings were correlated with the side of hippocampal involvement, the sex, patient´s age, and the symptoms onset. METHOD: The MR images of 115 patients with HS were studied retrospectively. All the examinations were performed on 1.5 T units (SIGNA, GE, Milwaukee, WI and included high resolution coronal T2-weighted images (3 mm thickness, 0.6 mm gap. RESULTS: The patient's age ranged between 3.5 and 80 years (mean 34.1; 62 (53.9% were female and 53 (46.1% were male. There were HS on the left side in 53 (46.0%, on the right side in 51 (44.3%, and bilateral in 11 (9.7%. In 43 (37.3% cases there were ipsilateral PHG volume loss and signal hyper intensity on T2-weighted imaging. In 29 (25.2% cases there were ipsilateral fornix volume loss and in 10 (34.5% of this there were also ipsilateral MB changes. In abnormal PHG, 23 (53.4% were on the left side, 17 (39.5% were on the right side, and 3 (7.1% were bilateral. There were fornix changes in 15 (34.8% cases and MB volume loss in 5 (11.6% cases. Pertinent clinical data were obtained in only 18 (41.8% of the PHG lesion cases and 11 (61.1% of these patients had epileptic attacks for more than 20 years before the examination. CONCLUSION: PHG involvement must be investigated in patients with HS and we suggest that the term mesial temporal sclerosis should be used only if there are also changes at this anatomical site.

  16. New insight on the Xq28 association with systemic sclerosis

    Science.gov (United States)

    Carmona, F David; Cénit, M Carmen; Diaz-Gallo, Lina-Marcela; Broen, Jasper C A; Simeón, Carmen P; Carreira, Patricia E; Callejas-Rubio, José-Luis; Fonollosa, Vicente; López-Longo, Francisco J; González-Gay, Miguel A; Hunzelmann, Nicolas; Riemekasten, Gabriela; Witte, Torsten; Kreuter, Alexander; Distler, Jörg H W; Madhok, Rajan; Shiels, Paul; van Laar, Jacob M; Schuerwegh, Annemie J; Vonk, Madelon C; Voskuyl, Alexandre E; Fonseca, Carmen; Denton, Christopher P; Herrick, Ariane; Worthington, Jane; Arnett, Frank C; Tan, Filemon K; Assassi, Shervin; Radstake, Timothy R D J; Mayes, Maureen D; Martín, Javier

    2013-01-01

    Objective To evaluate whether the systemic sclerosis (SSc)-associated IRAK1 non-synonymous single-nucleotide polymorphism rs1059702 is responsible for the Xq28 association with SSc or whether there are other independent signals in the nearby methyl-CpG-binding protein 2 gene (MECP2). Methods We analysed a total of 3065 women with SSc and 2630 unaffected controls from five independent Caucasian cohorts. Four tag single-nucleotide polymorphisms of MECP2 (rs3027935, rs17435, rs5987201 and rs5945175) and the IRAK1 variant rs1059702 were genotyped using TaqMan predesigned assays. A meta-analysis including all cohorts was performed to test the overall effect of these Xq28 polymorphisms on SSc. Results IRAK1 rs1059702 and MECP2 rs17435 were associated specifically with diffuse cutaneous SSc (PFDR=4.12×10−3, OR=1.27, 95% CI 1.09 to 1.47, and PFDR=5.26×10−4, OR=1.30, 95% CI 1.14 to 1.48, respectively), but conditional logistic regression analysis showed that the association of IRAK1 rs1059702 with this subtype was explained by that of MECP2 rs17435. On the other hand, IRAK1 rs1059702 was consistently associated with presence of pulmonary fibrosis (PF), because statistical significance was observed when comparing SSc patients PF+ versus controls (PFDR=0.039, OR=1.30, 95% CI 1.07 to 1.58) and SSc patients PF+ versus SSc patients PF− (p=0.025, OR=1.26, 95% CI 1.03 to 1.55). Conclusions Our data clearly suggest the existence of two independent signals within the Xq28 region, one located in IRAK1 related to PF and another in MECP2 related to diffuse cutaneous SSc, indicating that both genes may have an impact on the clinical outcome of the disease. PMID:23444193

  17. Patient phenotypes in fibromyalgia comorbid with systemic sclerosis or rheumatoid arthritis: influence of diagnostic and screening tests. Screening with the FiRST questionnaire, diagnosis with the ACR 1990 and revised ACR 2010 criteria.

    Science.gov (United States)

    Perrot, Serge; Peixoto, Mariana; Dieudé, Philippe; Hachulla, Eric; Avouac, Jerome; Ottaviani, Sebastien; Allanore, Yannick

    2017-01-01

    Fibromyalgia (FM) may occur with rheumatoid arthritis (RA) and systemic sclerosis (SSc), and debate remains about its diagnosis. We aimed to use three FM tools (a screening tool (FiRST), diagnostic criteria (ACR 1990 and revised 2010), to compare FM prevalence between RA and SSc patients, to describe the phenotypes of patients with comorbid FM, and to analyze links between FM and secondary Sjögren's syndrome (SS). Consecutive adult patients with confirmed RA or SSc from four university hospitals were tested with the three FM tools. FiRST detected FM in 22.6% of the 172 RA patients, with confirmation in 22.1% (ACR1990) and 19.1% (ACR2010). ACR1990FM+ RA patients had more diffuse pain, whereas ACR2010FM+ RA patients had higher BMI and pain intensity, more diffuse pain, active disease, disability, and associated SS. FiRST detected FM in 27.8% of the 122 SSc patients, with confirmation in 30.3% (ACR1990) and 23.7% (ACR2010). ACR1990FM+ SSc patients had greater disability and pain intensity, and more diffuse pain, whereas ACR2010FM+ SSc patients had higher BMI, pain intensity, more disability and diffuse pain, and associated SS. Correlations between FM diagnostic and screening tool results were modest in both conditions. Secondary SS was associated with comorbid FM. The prevalence of FM is high in SSc and RA, whatever the FM diagnostic tool used. Secondary SS is associated with FM in both RA and SSc. The revised ACR 2010 FM criteria and FiRST screening tool reveal specific phenotypes potentially useful for improving disease management.

  18. How do we manage and treat a patient with multiple sclerosis at risk of tuberculosis?

    Science.gov (United States)

    Fragoso, Yara Dadalti; Adoni, Tarso; Anacleto, Andrea; Brooks, Joseph Bruno Bidin; Carvalho, Margarete de Jesus; Claudino, Rinaldo; Damasceno, Alfredo; Ferreira, Maria Lucia Brito; Gama, Paulo Diniz da; Goncalves, Marcus Vinicus Magno; Grzesiuk, Anderson Kuntz; Matta, Andre Palma da Cunha; Parolin, Monica Fiuza Koncke

    2014-11-01

    Tuberculosis continues to be a serious health problem worldwide. The disease continues to be underdiagnosed and not properly treated. In conditions that affect the immune system, such as multiple sclerosis (MS), latent tuberculosis may thrive and reactivate during the use of immunomodulatory and immunosuppressive drugs. Among the best treatment options for patients with latent or active tuberculosis who have MS are IFN-β, glatiramer acetate and mitoxantrone. Drugs leading to a reduced number and/or function of lymphocytes should be avoided or used with caution. Tuberculosis must always be investigated in patients with MS and treated with rigor.

  19. Optical coherence tomography and T cell gene expression analysis in patients with benign multiple sclerosis

    Directory of Open Access Journals (Sweden)

    John Soltys

    2017-01-01

    Full Text Available Benign multiple sclerosis is a retrospective diagnosis based primarily on a lack of motor symptom progression. Recent findings that suggest patients with benign multiple sclerosis experience non-motor symptoms highlight the need for a more prospective means to diagnose benign multiple sclerosis early in order to help direct patient care. In this study, we present optical coherence tomography and T cell neurotrophin gene analysis findings in a small number of patients with benign multiple sclerosis. Our results demonstrated that retinal nerve fiber layer was mildly thinned, and T cells had a distinct gene expression profile that included upregulation of interleukin 10 and leukemia inhibitory factor, downregulation of interleukin 6 and neurotensin high affinity receptor 1 (a novel neurotrophin receptor. These findings add evidence for further investigation into optical coherence tomography and mRNA profiling in larger cohorts as a potential means to diagnose benign multiple sclerosis in a more prospective manner.

  20. Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis

    Science.gov (United States)

    Katz Sand, Ilana B.; Honce, Justin M.; Lublin, Fred D.

    2015-01-01

    Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. This group includes lysosomal storage disorders, various mitochondrial diseases, other neurometabolic disorders, and several other miscellaneous disorders. Recognition of a single-gene disorder as causal for a patient’s ‘multiple sclerosis-like’ phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis. PMID:25636970

  1. Depressive Symptoms in Bariatric Surgery Patients with Multiple Sclerosis.

    Science.gov (United States)

    Fisher, Carolyn J; Heinberg, Leslie J; Lapin, Brittany; Aminian, Ali; Sullivan, Amy B

    2018-04-01

    Bariatric surgery has been shown to be a safe and effective intervention for patients with comorbid obesity and multiple sclerosis (MS); however, this sub-population may be at heightened risk for pre- and postoperative depressive symptoms. This current exploratory study aims to describe the prevalence and nature of depressive symptoms in a sample of patients with MS who undergo bariatric surgery. Medical records were retrospectively reviewed to identify patients who received bariatric surgery and had a diagnosis of MS (n = 31) and a control sample of non-surgical MS patients with severe obesity (n = 828). Longitudinal outcome measures included the Patient Health Questionnaire-9 (PHQ-9) and Multiple Sclerosis Performance Scale (MSPS). There were no significant differences in PHQ-9 total and item scores between groups at baseline. PHQ-9 scores significantly improved at years 1 (p bariatric surgery when compared to non-surgical controls. Higher BMI (p = 0.03) and worse overall quality of life (p bariatric group. When compared to controls, the bariatric group demonstrated improved MSPS scores on a trend level 1 year post-surgery (p = 0.08). Consistent with the literature on more general bariatric surgery populations, current findings highlight the possible early benefits of bariatric surgery for reducing depressive symptoms in this population when compared to controls. Importantly, results should be viewed as preliminary and additional research is needed to examine bariatric surgery and associations with depressive symptoms and performance in the MS population.

  2. Neuropsychological effects of comorbidity in multiple sclerosis patients

    Directory of Open Access Journals (Sweden)

    Kalina Drenska

    2017-12-01

    Full Text Available Introduction: Multiple sclerosis (MS is a progressive demyelinating and degenerative neurological disease. The degree of disability increases along with pathological damage, especially in cases with comorbidity. Methodology: The objective of this study was to analyze the influence of MS alone and with comorbidity on some neuropsychological patterns. Individual quality of life of 80 MS patients at a mean age of 49 years, 56 females and 24 males, was examined by means of Multiple Sclerosis Quality of Life-54 Questionnaire (MSQOL-54 in 2002-2015. Forty patients presented with MS alone and 40 with MS and comorbidity. The frequency of troubles of mental concentration/thinking, fixation of attention, and memory as well as of difficulty at work and other activities were examined. Results: Statistically significant differences were observed between patients with MS alone and those with MS and comorbidity concerning troubles of mental concentration/thinking (t=4.822; p<0.0001, and of memory (t=4.020; p<0.0001. Gender correlated negatively with troubles of memory (R=-0.343; r<0.05, while EDSS scores did with troubles of memory (R=-0.346; p<0.05 and with troubles of attention (R=-0.330; p<0.05. The accompanying diseases additionally worsened the components of health-related quality of life. Conclusions: Common comorbidity in MS patients requires careful clinical examinations and proper management in order to reduce the neuropsychological burden and assure a better individual quality of life for the patient.

  3. Arterial vasculopathy in systemic sclerosis: Computerized tomography (CT) angiographic features of macrovascular and microvascular upper limbs arteries

    NARCIS (Netherlands)

    Emad, Y.; Al-Sherbeni, H.; Ragab, Y.; Abo-El-Youn, I.; El-Shaarawy, N.; Nassar, D.Y.; Fathy, A.; Al-Hanafi, H.; Rasker, Johannes J.

    2014-01-01

    Objective To describe the CT angiographic findings of arterial vasculopathy in the major vessels as well as medium and micro vascular affection of the whole upper limbs arterial tree in patients with systemic sclerosis (SSc) with and without digital ulceration. Methods Twenty-two cases with systemic

  4. Silica-associated limited systemic sclerosis after occupational exposure to calcined diatomaceous earth.

    Science.gov (United States)

    Moisan, Stéphanie; Rucay, Pierre; Ghali, Alaa; Penneau-Fontbonne, Dominique; Lavigne, Christian

    2010-10-01

    Silica-associated systemic sclerosis can occur in persons using calcined diatomaceous earth for filtration purpose. A limited systemic sclerosis was diagnosed in a 52-year-old male winegrower who had a combination of Raynaud's phenomenon, oesophageal dysfunction, sclerodactyly and telangectasia. The anti-centromere antibodies titre was 1/5000. The patient was frequently exposed to high atmospheric concentrations of calcined diatomaceous earth when performing the filtration of wines. Calcined diatomaceous earth is almost pure crystalline silica under the cristobalite form. The diagnosis of silica-associated limited systemic sclerosis after exposure to calcined diatomaceous earth was made. The patient's disease met the medical, administrative and occupational criteria given in the occupational diseases list 22 bis of the agriculture Social Security scheme and thence was presumed to be occupational in origin, without need to be proved. The diagnosis of occupational disease had been recognized by the compensation system of the agricultural health insurance. Copyright © 2010 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

  5. Increased rate of treatment with antidepressants in patients with multiple sclerosis

    DEFF Research Database (Denmark)

    Kessing, Lars Vedel; Harhoff, Mette; Andersen, Per Kragh

    2008-01-01

    in patients with multiple sclerosis compared with patients with other chronic illnesses and compared with the general population. By linkage of nationwide case registers, all patients were identified, who had received a main diagnosis of multiple sclerosis or osteoarthritis at first admission or during...... outpatient contact in the period 1995-2000 in Denmark. Rates of subsequent purchase of antidepressants for these patients were calculated. In total, 417 patients with a main diagnosis of multiple sclerosis and 12 127 patients with a main diagnosis of osteoarthritis, at first discharge from hospital...... or outpatient contact, were included. Patients with a diagnosis of multiple sclerosis had a 3.21 [95% confidence intervals (CI): 2.56-4.03] times increased rate of subsequently purchasing antidepressants compared with patients with a first diagnosis of osteoarthritis, and a 4.75 times (95% CI: 3...

  6. [Multidisciplinary Management and Neurorehabilitation of Patients with Amyotrophic Lateral Sclerosis].

    Science.gov (United States)

    Budinčević, H; Marčinko Budinčević, A; Kos, M; Vlašić, S; Bartolović, J; Benko, S; Ostojić, V; Soldo Butković, S

    2016-04-01

    Patients with amyotrophic lateral sclerosis require comprehensive care with a multidisciplinary approach, which is individually adjusted to each patient. The goals of neurorehabilitation should be adjusted to the stage of disease. In early stages, physical therapy is focused on preserving and optimizing motor and respiratory function. At this stage, family should be involved to partake in desired activities and be informed regarding the natural course of the disease. In late stages, physical therapy is focused on preventing respiratory complications and contractures, and orthotics may also be recommended. The onset of dysarthria should trigger swallowing and pulmonary function testing. Swallowing maneuvers should be tried at the onset of symptoms, later feeding tubes or percutaneous gastrostomy tube is necessary. Noninvasive mechanical ventilation may delay the need of tracheostomy and invasive mechanical ventilation. The key objectives of multidisciplinary teams are to optimize medical care, facilitate communication, and thus to improve the quality of care and quality of life.

  7. Internal Jugular Vein Entrapment in a Multiple Sclerosis Patient

    Directory of Open Access Journals (Sweden)

    Marian Simka

    2012-01-01

    Full Text Available We describe a multiple sclerosis patient presenting with compression of the internal jugular vein caused by aberrant omohyoid muscle. Previously this patient underwent balloon angioplasty of the same internal jugular vein. Ten months after this endovascular procedure, Doppler sonography revealed totally collapsed middle part of the treated vein with no outflow detected. Still, the vein widened and the flow was restored when the patient’s mouth opened. Thus, the abnormality was likely to be caused by muscular compression. Surgical exploration confirmed that an atypical omohyoid muscle was squeezing the vein. Consequently, pathological muscle was transected. Sonographic control three weeks after surgical procedure revealed a decompressed vein with fully restored venous outflow. Although such a muscular compression can be successfully managed surgically, future research has to establish its clinical relevance.

  8. The comparability of English, French and Dutch scores on the Functional Assessment of Chronic Illness Therapy-Fatigue (FACIT-F: an assessment of differential item functioning in patients with systemic sclerosis.

    Directory of Open Access Journals (Sweden)

    Linda Kwakkenbos

    Full Text Available The Functional Assessment of Chronic Illness Therapy-Fatigue (FACIT-F is commonly used to assess fatigue in rheumatic diseases, and has shown to discriminate better across levels of the fatigue spectrum than other commonly used measures. The aim of this study was to assess the cross-language measurement equivalence of the English, French, and Dutch versions of the FACIT-F in systemic sclerosis (SSc patients.The FACIT-F was completed by 871 English-speaking Canadian, 238 French-speaking Canadian and 230 Dutch SSc patients. Confirmatory factor analysis was used to assess the factor structure in the three samples. The Multiple-Indicator Multiple-Cause (MIMIC model was utilized to assess differential item functioning (DIF, comparing English versus French and versus Dutch patient responses separately.A unidimensional factor model showed good fit in all samples. Comparing French versus English patients, statistically significant, but small-magnitude DIF was found for 3 of 13 items. French patients had 0.04 of a standard deviation (SD lower latent fatigue scores than English patients and there was an increase of only 0.03 SD after accounting for DIF. For the Dutch versus English comparison, 4 items showed small, but statistically significant, DIF. Dutch patients had 0.20 SD lower latent fatigue scores than English patients. After correcting for DIF, there was a reduction of 0.16 SD in this difference.There was statistically significant DIF in several items, but the overall effect on fatigue scores was minimal. English, French and Dutch versions of the FACIT-F can be reasonably treated as having equivalent scoring metrics.

  9. Effects of physiotherapy treatment for urinary incontinence in patient with multiple sclerosis

    OpenAIRE

    Pereira, Carla Maria de Abreu; Castiglione, Mariane; Kasawara, Karina Tamy

    2017-01-01

    [Purpose] The aim of the study was to evaluate the benefits of physical therapy for urinary incontinence in patients with multiple sclerosis and to verify the impact of urinary incontinence on the patient?s quality of life. [Subject and Methods] A case study of a 55-year-old female patient diagnosed with multiple sclerosis and mixed urinary incontinence was conducted. Physical therapy sessions were conducted once a week, in total 15 sessions, making use of targeted functional electrical vagin...

  10. Multiple sclerosis-associated retrovirus, Epstein-Barr virus, and vitamin D status in patients with relapsing remitting multiple sclerosis.

    Science.gov (United States)

    Mostafa, Aliehossadat; Jalilvand, Somayeh; Shoja, Zabihollah; Nejati, Ahmad; Shahmahmoodi, Shohreh; Sahraian, Mohammad Ali; Marashi, Sayed Mahdi

    2017-07-01

    The relationship between infections and autoimmune diseases is complex and there are several reports highlighting the role of human endogenous retroviruses (HERVs) in these patients. The levels of multiple sclerosis-associated retrovirus (MSRV)-type DNA of Env gene was measured in peripheral blood mononuclear cells from 52 patients with relapsing-remitting multiple sclerosis (RRMS) and 40 healthy controls using specific quantitative PCR (qPCR) analysis. Furthermore, we analyzed the status of HERV-W/MSRV in these patients with regards to both EBV (DNA load and anti-EBNA1 IgG antibody) and vitamin D concentration. MSRV DNA copy number were significantly higher in RRMS patients than healthy controls (P < 0.0001). Interestingly, an inverse correlation was found between MSRV DNA copy number and serum vitamin D concentration (P < 0.01), but not for EBV load or anti-EBNA-1 IgG antibody. © 2017 Wiley Periodicals, Inc.

  11. Diagnostic challenges in combined multiple sclerosis and centronuclear myopathy

    DEFF Research Database (Denmark)

    Olsen, D.B.; Langkilde, Annika Reynberg; Schmalbruch, H

    2000-01-01

    The first case of combined centronuclear myopathy and multiple sclerosis is reported. The difficulties of diagnosing multiple sclerosis in patients with muscular disorders associated with the central nervous system involvement are discussed...

  12. Prognostic value of intrathecal IgG synthesis in multiple sclerosis: a study in 54 patients

    Directory of Open Access Journals (Sweden)

    Aghamohammadi A

    2008-06-01

    Full Text Available Background: Multiple sclerosis (MS is an inflammatory disease of the central nervous system with multifocal areas of demyelination. Despite an increased understanding of the mechanisms causing MS, immunological factors that indicate disease activity are only starting to be discovered. Chronic brain inflammation is often associated with an increase in production of IgG in the CSF as determined by the IgG index (normal ≤0.77 and oligoclonal bands (OCBs. Different studies have found variable correlations between these two factors and disease progression. We herein evaluate the correlation of IgG index and OCB with disease progression in Iranian MS patients.Methods: The IgG index was measured in 54 patients with multiple sclerosis. The progression index (PI, type of disease course and the presence of OCBs were compared in patients with normal, high and very high IgG index.Results: PI was higher in patients with very high IgG indexes (0.10±0.13 vs. patients with high (0.06±0.05 and normal IgG indexes (0.05±0.07; p>0.05. Secondary progressive (SP patients had higher IgG indexes than those with relapsing-remitting (RR courses (2.04±1.24 for SP vs. 1.78±1.45 for RR; p>0.05. The PI was higher in OCB-positive MS patients (0.08±0.10 vs. OCB-negative patients (0.05±0.04 (p>0.05.Conclusion: Although the findings of this study need to be treated with some caution since this is not a prospective evaluation, the results indicate a trend toward better prognosis of the disease in patients with lower IgG index values. We think that the IgG index is a useful marker of disease activity in MS. Patients with IgG indexes above 1.1 could have an increased risk of progression and they would benefit from early treatment with immunomodulator agents. Our results did not reveal statistically significant prognostic value for IgG index in patients with multiple sclerosis. Thus the results warrant prospective studies to verify the prognostic value of intrathecal Ig

  13. Increased rate of treatment with antidepressants in patients with multiple sclerosis

    DEFF Research Database (Denmark)

    Kessing, Lars Vedel; Harhoff, Mette; Andersen, Per Kragh

    2008-01-01

    The prevalence of depression and anxiety is increased in patients with multiple sclerosis, but it has not been investigated whether these conditions are treated in clinical practice. The objective of this study was to investigate whether the rate of treatment with antidepressants is increased...... in patients with multiple sclerosis compared with patients with other chronic illnesses and compared with the general population. By linkage of nationwide case registers, all patients were identified, who had received a main diagnosis of multiple sclerosis or osteoarthritis at first admission or during...... outpatient contact in the period 1995-2000 in Denmark. Rates of subsequent purchase of antidepressants for these patients were calculated. In total, 417 patients with a main diagnosis of multiple sclerosis and 12 127 patients with a main diagnosis of osteoarthritis, at first discharge from hospital...

  14. Characterizing functional connectivity during rest in multiple sclerosis patients versus healthy volunteers using independent component analysis

    Energy Technology Data Exchange (ETDEWEB)

    Palacio Garcia, L.; Andrzejak, R.; Prchkovska, V.; Rodrigues, P.

    2016-07-01

    It is commonly thought that our brain is not active when it does not receive any external input. However, during rest, there are still certain distant regions of the brain that are functionally correlated between them: the so-called resting-state networks. This functional connectivity of the brain is disrupted in many neurological diseases. In particular, it has been shown that one of the most studied resting-state networks (the default-mode network) is affected in multiple sclerosis, which is the most common disabling neurological condition affecting the central nervous system of young adults. In this work, I focus on the study of the differences in the resting-state networks between multiple sclerosis patients and healthy volunteers. In order to study the effects of multiple sclerosis on the functional connectivity of the brain, a numerical method known as independent component analysis (ICA) is applied. This technique divides the resting-state fMRI data into independent components. Nonetheless, noise, which could be due to head motion or physiological artifacts, may corrupt the data by indicating a false activation. Therefore, I create a web user interface that allows the user to manually classify all the independent components for a given subject. Eventually, the components classified as noise should be removed from the functional data in order to prevent them from taking part in any further analysis. (Author)

  15. BIOFEEDBACK: A NEW METHOD FOR CORRECTION OF MOTOR DISORDERS IN PATIENTS WITH MULTIPLE SCLEROSIS

    Directory of Open Access Journals (Sweden)

    Ya. S. Pekker

    2014-01-01

    Full Text Available Major disabling factors in multiple sclerosis is motor disorders. Rehabilitation of such violations is one of the most important medical and social problems. Currently, most of the role given to the development of methods for correction of motor disorders based on accessing natural resources of the human body. One of these methods is the adaptive control with biofeedback (BFB. The aim of our study was the correction of motor disorders in multiple sclerosis patients using biofeedback training. In the study, we have developed scenarios for training rehabilitation program computer EMG biofeedback aimed at correction of motor disorders in patients with multiple sclerosis (MS. The method was tested in the neurological clinic of SSMU. The study included 9 patients with definite diagnosis of MS with the presence of the clinical picture of combined pyramidal and cerebellar symptoms. Assessed the effectiveness of rehabilitation procedures biofeedback training using specialized scales (rating scale functional systems Kurtzke; questionnaire research quality of life – SF-36, evaluation of disease impact Profile – SIP and score on a scale fatigue – FSS. In the studied group of patients decreased score on a scale of fatigue (FSS, increased motor control (SIP2, the physical and mental components of health (SF-36. The tendency to reduce the amount of neurological deficit by reducing the points on the pyramidal Kurtske violations. Analysis of the exchange rate dynamics of biofeedback training on EMG for trained muscles indicates an increase in the recorded signal OEMG from session to session. Proved a tendency to increase strength and coordination trained muscles of patients studied.Positive results of biofeedback therapy in patients with MS can be recommended to use this method in the complex rehabilitation measures to correct motor and psycho-emotional disorders.

  16. Is it safe for Multiple Sclerosis patients to fast?

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    Soodeh Razeghi Jahromi

    2015-12-01

    Full Text Available Ramadan fasting predispose multiple sclerosis (MS patients to a great challenge. Clinicians should have practical knowledge about the effects of fasting on MS. A mini-symposium was held in 2013 to answer the common questions about fasting in MS patients. In current review we present a summary of the mentioned mini-symposium.Generally, fasting is possible for most stable MS patients. Thorough monitoring of symptoms, proper adjustment of drug regimens, as well as, providing patients with evidences on MS and fasting are inevitable parts of management. Data from experimental studies proposed that calorie restriction prior to disease induction ameliorated disease severity by reducing inflammation and demyelination. According to the results of the mini-symposium, fasting doesn’t have adverse effects on disease course in patients with mild disability (Expanded Disability Status Scale (EDSS score ≤3. There was a general consensus that during fasting (especially in summer, some MS symptoms (such as dizziness, fatigue, fatigue perception, cognitive problems, spasticity, vision, weakness, gait, and balance may exacerbate. However, they return to normal levels during feasting period. A majority of experts did not recommend fasting to patients: with EDSS score of 7 or more, during attacks, with active disease or coagulopathy; on high doses of anti-spastics, corticosteroids, and anti-convulsants.

  17. Bedside Tested Ocular Motor Disorders in Multiple Sclerosis Patients

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    G. Servillo

    2014-01-01

    Full Text Available Background/Aims. Ocular motor disorders (OMDs are a common feature of multiple sclerosis (MS. In clinical practice, if not reported by patients, OMDs are often underdiagnosed and their prevalence is underestimated. Methods. We studied 163 patients (125 women, 76.7%, 38 men, 23.3%; median age 45.0 years; median disease duration 10 years; median EDSS 3.5 with definite MS (n=150, 92% or clinically isolated syndrome (n=13, 8% who underwent a thorough clinical examination of eye movements. Data on localization of previous relapses, MS subtype, and MRI findings were collected and analyzed. Results. Overall, 111/163 (68.1% patients showed at least one abnormality of eye movement. Most frequent OMDs were impaired smooth pursuit (42.3%, saccadic dysmetria (41.7%, unilateral internuclear ophthalmoplegia (14.7%, slowing of saccades (14.7%, skew deviation (13.5%, and gaze evoked nystagmus (13.5%. Patients with OMDs had more severe disability (P=0.0005 and showed more frequently infratentorial MRI lesions (P=0.004. Localization of previous relapses was not associated with presence of OMDs. Conclusion. OMDs are frequent in patients with stable (no relapses MS. A precise bedside examination of eye motility can disclose abnormalities that imply the presence of subclinical MS lesions and may have a substantial impact on definition of the diagnosis and on management of MS patients.

  18. IMPROVING FUNCTIONAL INDEPENDENCE OF PATIENTS WITH MULTIPLE SCLEROSIS BY PHYSICAL THERAPY AND OCCUPATIONAL THERAPY

    OpenAIRE

    Ana-Maria Ticărat

    2011-01-01

    Introduction. Patients with multiple sclerosis can have a normal life despite of their real or possible disability and of the progressive nature of it. Scope. Patients who follow physical therapy and occupational therapy will have an increased quality of life and a greater functional independence.Methods. The randomized study was made on 7 patients with multiple sclerosis, from Oradea Day Centre, 3 times/week, ages between 35 – 55 years, functional level between mild and sever. Assessment an...

  19. Update of EULAR recommendations for the treatment of systemic sclerosis.

    Science.gov (United States)

    Kowal-Bielecka, Otylia; Fransen, Jaap; Avouac, Jerome; Becker, Mike; Kulak, Agnieszka; Allanore, Yannick; Distler, Oliver; Clements, Philip; Cutolo, Maurizio; Czirjak, Laszlo; Damjanov, Nemanja; Del Galdo, Francesco; Denton, Christopher P; Distler, Jörg H W; Foeldvari, Ivan; Figelstone, Kim; Frerix, Marc; Furst, Daniel E; Guiducci, Serena; Hunzelmann, Nicolas; Khanna, Dinesh; Matucci-Cerinic, Marco; Herrick, Ariane L; van den Hoogen, Frank; van Laar, Jacob M; Riemekasten, Gabriela; Silver, Richard; Smith, Vanessa; Sulli, Alberto; Tarner, Ingo; Tyndall, Alan; Welling, Joep; Wigley, Frederic; Valentini, Gabriele; Walker, Ulrich A; Zulian, Francesco; Müller-Ladner, Ulf

    2017-08-01

    The aim was to update the 2009 European League against Rheumatism (EULAR) recommendations for the treatment of systemic sclerosis (SSc), with attention to new therapeutic questions. Update of the previous treatment recommendations was performed according to EULAR standard operating procedures. The task force consisted of 32 SSc clinical experts from Europe and the USA, 2 patients nominated by the pan-European patient association for SSc (Federation of European Scleroderma Associations (FESCA)), a clinical epidemiologist and 2 research fellows. All centres from the EULAR Scleroderma Trials and Research group were invited to submit and select clinical questions concerning SSc treatment using a Delphi approach. Accordingly, 46 clinical questions addressing 26 different interventions were selected for systematic literature review. The new recommendations were based on the available evidence and developed in a consensus meeting with clinical experts and patients. The procedure resulted in 16 recommendations being developed (instead of 14 in 2009) that address treatment of several SSc-related organ complications: Raynaud's phenomenon (RP), digital ulcers (DUs), pulmonary arterial hypertension (PAH), skin and lung disease, scleroderma renal crisis and gastrointestinal involvement. Compared with the 2009 recommendations, the 2016 recommendations include phosphodiesterase type 5 (PDE-5) inhibitors for the treatment of SSc-related RP and DUs, riociguat, new aspects for endothelin receptor antagonists, prostacyclin analogues and PDE-5 inhibitors for SSc-related PAH. New recommendations regarding the use of fluoxetine for SSc-related RP and haematopoietic stem cell transplantation for selected patients with rapidly progressive SSc were also added. In addition, several comments regarding other treatments addressed in clinical questions and suggestions for the SSc research agenda were formulated. These updated data-derived and consensus-derived recommendations will help

  20. [Treatment and course of a man with systemic sclerosis before and after hematopoetic blood stem cell transplantation].

    Science.gov (United States)

    Blank, N; Lorenz, H M

    2013-09-01

    A 66-year-old patient presented in our clinic with increasing painful swelling of his hands, whole body stiffness, weight loss and dyspnoea upon exercise. The physical examination revealed a marked skin sclerosis of hands, extremities and the face. Fist closure was impossible. Pulmonary CT scan showed lung fibrosis and ground glass opacities. Antinuclear antibodies and antibodies against Scl70 were positive. CRP, LDH, NT-Pro-BNP were elevated. A diffuse cutaneous systemic sclerosis with an active interstitial pneumonia and lung fibrosis was diagnosed. Three pulses of cyclophosphamide 1.4 g every three weeks were ineffective to halt the progression of skin sclerosis, joint contractures and decline of pulmonary function. Mobilisation chemotherapy was initialized and blood stem cells were harvested. Blood stem cells were reinfused after myeloablative chemotherapy with melphalan. A maintainance therapy with mycophenolic acid was initiated after recovery of hematopoiesis. Six months after blood stem cell transplantation a decrease of skin sclerosis and an increasing recovery of joint mobility and physical strength was observed. Patients with a progressive systemic sclerosis and further risk factors should be treated with high-dose chemotherapy with blood stem cell transplantation before organ function is severely compromised. In cases with contraindications against cyclophosphamide or anti-thymocyte-globulin melphalan can be discussed as an alternative. © Georg Thieme Verlag KG Stuttgart · New York.

  1. Cognitive performance of neuromyelitis optica patients: comparison with multiple sclerosis

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    Sandra Vanotti

    2013-06-01

    Full Text Available The aim of the present research was to investigate cognitive pattern of patients with neuromyelitis optica (NMO and to compare it with multiple sclerosis (MS patients' performance. Methods: Fourteen NMO, 14 relapsing remitting multiple sclerosis (RRMS, and 14 healthy control patients participated in the investigation. Neuropsychological functions were evaluated with the Brief Repeatable Neuropsychological Battery for MS; Symbol Digit Modalities Test; Digit Span; and Semantic Fluency. Results: Fifty-seven percent of NMO patients and 42.85% of the MS ones had abnormal performance in at least two cognitive tests. The NMO Group showed abnormal performance in verbal fluency, verbal and visual memories, with greater attention deficits. NMO patients outperformed healthy control in the paced auditory serial addition test (PASAT. However, no difference was found between NMO and RRMS patients. Conclusions: The NMO Group showed more dysfunction in attention and verbal fluencies than in verbal and visual memories. When compared with the MS patients, a similar dysfunction pattern was found. O objetivo da presente pesquisa foi investigar o padrão cognitivo de pacientes com neuromielite óptica (NMO e compará-lo com o desempenho de pacientes com esclerose múltipla (EM. Métodos: Quatorze pacientes com NMO, 14 com esclerose múltipla recorrente remitente (EMRR e 14 participantes do Controle saudáveis participaram da presente investigação. As funções neuropsicológicas foram avaliadas com a Bateria Breve de Testes Neuropsicológicos de Rao, Teste Símbolo Digit e a Fluência Semântica. Resultados: Cinquenta e sete por cento dos pacientes com NMO e 42,85% daqueles com EM apresentaram desempenho anormal em pelo menos dois testes cognitivos. O Grupo NMO apresentarou desempenho anormal na fluência verbal e nas memórias visual e verbal, com maiores déficits de atenção. Pacientes com NMO superaram os controles saudáveis em PASAT. No entanto, não foi

  2. Disease-related nutritional risk and mortality in systemic sclerosis.

    Science.gov (United States)

    Cereda, Emanuele; Codullo, Veronica; Klersy, Catherine; Breda, Silvia; Crippa, Anna; Rava, Maria Luisa; Orlandi, Margherita; Bonardi, Chiara; Fiorentini, Maria Lina; Caporali, Roberto; Caccialanza, Riccardo

    2014-06-01

    To evaluate the relationship between mortality and nutritional risk associated with disease activity in Systemic Sclerosis (SSc). A single-centre prospective cohort study involving 160 SSc outpatients (median age, 62 years [25th-75th, 54-68]). Nutritional risk was assessed by the Malnutrition Universal Screening Tool (MUST), a screening tool that combines anthropometric parameters of nutritional status (body mass index [BMI] and percentage of unintentional weight loss [WL]) with the presence of an "acute disease" (as defined by a disease activity score ≥3 according to Valentini's criteria). Prevalence of high nutritional risk (MUST score ≥2) was 24.4% [95%CI, 17.4-31.3]. A low nutritional risk (MUST = 1) was detected in 30% of our study sample. In hazard analysis (median follow-up duration = 46 months [25th-75th percentile, 31-54]), high nutritional risk was significantly associated with mortality (HR = 8.3 [95%CI, 2.1-32.1]). The performance of the model based on nutritional risk including disease activity (Harrell's c = 0.74 [95%CI, 0.59-0.89]) was superior to that based on active disease alone (HR = 6.3 [95%CI, 1.8-21.7]; Harrell's c = 0.68 [95%CI, 0.53-0.84]). Risk scored only by anthropometric parameters (prevalence, 9.4% [95%CI, 4.6-14.2]) was not associated with mortality: HR = 2.8 [95%CI, 0.6-13.2]. In SSc outpatients MUST significantly predicts mortality. The combined assessment of nutritional parameters and disease activity significantly improves the evaluation of mortality risk. Disease-related nutritional risk screening should be systematically included in the clinical workup of every SSc patient. Copyright © 2013 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

  3. [Virological and immunological indices in patients with multiple sclerosis].

    Science.gov (United States)

    Agafonov, A P; Kameneva, S N; Agafonova, O A; Neverov, A A; Ignat'ev, G M

    2004-01-01

    The level of specific antibodies to viruses of measles, parotitis, type-6 herpes, Epstein-Barr, tick-borne encephalitis and Borrelia burgdorferi as well as presence of genetic samples and antigens of the above infectious antigens were studied in patients with multiple sclerosis (MS). The cytokines Th1 and Th2 parameters were investigated in blood serum of patients at different MS stages. The titer of antibodies to measles virus was noted to be increasing in MS patients with age and disease aggravation. The level of antibodies to any of the studied infectious agents, except for the type-6 herpes virus, was not dynamically changing for as long as 9 months. The viral genetic samples (measles RNA) were detected just once in 2 patients; the detection time coincided in both cases with MS aggravation. The cytokines dynamics failed to correlate with MS aggravation or exacerbation while the total index of all studied cytokines was decreased. A high MMPw 9 content in blood serum correlated with MS exacerbation in 1 patient.

  4. Antiepileptic and Antidepressive Polypharmacy in Patients with Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Georg Anton Giæver Beiske

    2015-01-01

    Full Text Available Objective. Patients with multiple sclerosis (MS are often suffering from neuropathic pain. Antiepileptic drugs (AEDs and tricyclic antidepressants (TCAs are commonly used and are susceptible to be involved in drug interactions. The aim of this retrospective study was to investigate the prevalence of use of antiepileptic and antidepressive drugs in MS patients and to discuss the theoretical potential for interactions. Methods. Review of the medical records from all patients treated at a dedicated MS rehabilitation centre in Norway between 2009 and 2012. Results. In total 1090 patients attended a rehabilitation stay during the study period. Of these, 342 (31%; 249 females with mean age of 53 (±10 years and EDSS 4.8 (±1.7 used at least one AED (gabapentin 12.7%, pregabalin 7.7%, clonazepam 7.8%, and carbamazepine 2.6% or amitriptyline (9.7%. Polypharmacy was widespread (mean 5.4 drugs with 60% using additional CNS-active drugs with a propensity to be involved in interactions. Age, gender, and EDSS scores did not differ significantly between those using and not using AED/amitriptyline. Conclusion. One-third of MS patients attending a rehabilitation stay receive AED/amitriptyline treatment. The high prevalence of polypharmacy and use of CNS-active drugs calls for awareness of especially pharmacodynamic interactions and possible excessive adverse effects.

  5. Pelvic floor rehabilitation is effective in patients with multiple sclerosis.

    Science.gov (United States)

    Vahtera, T; Haaranen, M; Viramo-Koskela, A L; Ruutiainen, J

    1997-08-01

    To determine the effect of pelvic floor muscle exercises combined with electrical stimulation of pelvic floor on lower urinary tract dysfunction in multiple sclerosis (MS) patients with near normal (current symptoms of lower urinary tract dysfunction. The muscle activity of the pelvic floor muscles was tested using surface EMG. Subjective urinary symptoms were assessed using a questionnaire. Pelvic floor muscles were stimulated using electrical stimulation at six sessions. During and after the final session the patients were taught to exercise their pelvic floor muscles and advised to continue these exercises regularly for at least six months. The control group was not treated. The maximal contraction power and endurance of the pelvic floor muscles increased after six sessions of electrical stimulation with interferential currents. Symptoms of urinary urgency, frequency and incontinence were significantly less frequent in the treated group than in the untreated subjects. Male patients appeared to respond better to the treatment than female patients. Compliance with the pelvic floor exercises was over 60% at the end of a follow-up for six months. Most drop-outs were due to the disappearance of urinary tract symptoms or to severe relapses in MS. The present study indicates that pelvic floor muscle exercises combined with electrical stimulation of the pelvic floor constitute an effective treatment for lower urinary tract dysfunction at least in male patients with MS.

  6. Oral iloprost in Raynaud's phenomenon secondary to systemic sclerosis : A multicentre, placebo-controlled, dose-comparison study

    NARCIS (Netherlands)

    Black, CM; Halkier-Sorensen, L; Belch, JJF; Ullman, S; Madhok, R; Smit, AJ; Banga, JD; Watson, HR

    Objective. To identify the optimal dose of oral iloprost bn the basis of efficacy and tolerability in patients with Raynaud's phenomenon secondary to systemic sclerosis. Design. Multicentre, randomized, parallel-group comparison of two different doses of oral iloprost and placebo. Setting. European

  7. Altered Dermal Fibroblasts in Systemic Sclerosis Display Podoplanin and CD90.

    Science.gov (United States)

    Nazari, Banafsheh; Rice, Lisa M; Stifano, Giuseppina; Barron, Alexander M S; Wang, Yu Mei; Korndorf, Tess; Lee, Jungeun; Bhawan, Jag; Lafyatis, Robert; Browning, Jeffrey L

    2016-10-01

    Tissue injury triggers the activation and differentiation of multiple cell types to minimize damage and initiate repair processes. In systemic sclerosis, these repair processes appear to run unchecked, leading to aberrant remodeling and fibrosis of the skin and multiple internal organs, yet the fundamental pathological defect remains unknown. We describe herein a transition wherein the abundant CD34(+) dermal fibroblasts present in healthy human skin disappear in the skin of systemic sclerosis patients, and CD34(-), podoplanin(+), and CD90(+) fibroblasts appear. This transition is limited to the upper dermis in several inflammatory skin diseases, yet in systemic sclerosis, it can occur in all regions of the dermis. In vitro, primary dermal fibroblasts readily express podoplanin in response to the inflammatory stimuli tumor necrosis factor and IL-1β. Furthermore, we show that on acute skin injury in both human and murine settings, this transition occurs quickly, consistent with a response to inflammatory signaling. Transitioned fibroblasts partially resemble the cells that form the reticular networks in organized lymphoid tissues, potentially linking two areas of fibroblast research. These results allow for the visualization and quantification of a basic stage of fibroblast differentiation in inflammatory and fibrotic diseases in the skin. Copyright © 2016 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

  8. Menstrual Irregularities and Related Plasma Hormone Levels in Multiple Sclerosis Patients Treated with Beta Interferone

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    Ehya Garshasbi

    2010-02-01

    Full Text Available Multiple sclerosis is a chronic inflammatory disease of central nervous system.Women are more susceptible to this disease. One of the obvious clinical complaints in women with multiple sclerosis specially treated with Beta Interferones is menstrual cycle irregularity. The aim of this study was to determine the prevalence of menstrual irregularities and probable changes in blood levels of related hormones (FSH, LH, PRL, TSH, T4, T3 in 58 females with definite MS treated with beta interferones versus 58 healthy women. In comparison to the control group, the patients had higher prevalence of irregular menstruation (P=0.001, oligomenorrhea (p=0.03, abnormal amount of menstrual blood flow (P=0.001, abnormal duration of menstrual flow (P=0.01 and missed period (P=0.04. Mean LH level in patients group was higher than control group (P=0.04.Hyperprolactinemia (>25.5ng/ml was more prevalent in patients group .There were not a significant difference in plasma levels of FSH and thyroid hormones between two groups. There were some relations between the type of Beta interferones and the subtype of menstrual irregularities in the patients. In conclusion, the results of this study emphasized the high rate of menstrual problem and changes of related plasma hormone levels in MS patients.

  9. Assessment of Personality Types and Locus of Control in Multiple Sclerosis Patients

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    Sh. Mazaheri

    2008-07-01

    Full Text Available Introduction & Objective: Multiple sclerosis (MS is an autoimmune disease with unknown cause. MS is one of the disabling neurologic diseases in adult especially young range that myelin part of central nervous system (CNS is destructed. The aim of this study was assessment of types A and B personality and internal and external locus of control in multiple sclerosis (MS patients and comparison of the results with control group.Materials & Methods: In a case-control study, 30 patients with MS and 30 normal persons as control group evaluated with neurological examination, Rotter locus of control test and Friedman-Rosenman questionnaire for detection of types A and B personality. We employed to analyze the results.Results: 43 percent and 57 percent of MS patients had internal and external locus of control respectively. 63 percent and 37 percent of MS patients had type A and B personality respectively. 60 percent and 40 percent of control group had internal and external locus of control respectively. 20 percent and 80 percent of control group had type A and B personality respectively. Difference between personality type in two groups was significant (P<0.01.Conclusions: In this study, MS patients had more type A personality in comparison to control group.

  10. Fatigue Perceived by Multiple Sclerosis Patients Is Associated With Muscle Fatigue

    NARCIS (Netherlands)

    Steens, Anneke; de Vries, Astrid; Hemmen, Jolien; Heersema, Thea; Heerings, Marco; Maurits, Natasha; Zijdewind, Inge

    Background. Fatigue is a debilitating symptom in multiple sclerosis (MS). Previous studies showed no association between fatigue as perceived by the patient and physiological measures of fatigability. Objective. The authors investigated associations between perceived fatigue and measures of

  11. A Rare Reason of Ileus in Renal Transplant Patients With Peritoneal Dialysis History: Encapsulated Peritoneal Sclerosis.

    Science.gov (United States)

    Gökçe, Ali Murat; Özel, Leyla; İbişoğlu, Sevinç; Ata, Pınar; Şahin, Gülizar; Gücün, Murat; Kara, V Melih; Özdemir, Ebru; Titiz, M İzzet

    2015-12-01

    Encapsulating peritoneal sclerosis is a rare complication of long-term peritoneal dialysis ranging from moderate inflammation of peritoneal structures to severe sclerosing peritonitis and encapsulating peritoneal sclerosis. Complicated it, ileus may occur during or after peritoneal dialysis treatment or after kidney transplant. We sought to evaluate 3 posttransplant encapsulating peritoneal sclerosis through clinical presentation, radiologic findings, and outcomes. We analyzed 3 renal transplant patients with symptoms of encapsulating peritoneal sclerosis admitted posttransplant to our hospital with ileus between 2012 and 2013. Conservative treatment was applied to the patients whenever necessary to avoid surgery. One patient improved with medical therapy. Surgical treatment was delayed and we decided it as a last resort, in 2 cases with no response to conservative treatment for a long time. Finally, patients with peritoneal dialysis history should be searched carefully before renal transplant for intermittent bowel obstruction story.

  12. [The effect of tobacco smoking on clinical effectiveness of immunomodulatory treatment in multiple sclerosis patients].

    Science.gov (United States)

    Jernas, Łukasz; Piorunek, Tomasz; Tokarz, Elzbieta; Wygladalska-Jernas, Halina; Kozubski, Wojciech; Michalak, Sławomir

    2012-01-01

    Environmental causes and genetic factors play important role in causation of multiple sclerosis (MS). Tobacco smoking is recognized as a risk factor of the most common inflammatory demyelinating disorder of central nervous system. Experimental studies showed inhibitory effect of tobacco smoke compounds on interferon production. The aim of this study was the evaluation of tobacco smoking on clinical effectiveness of immunomodulatory treatment of multiple sclerosis. Material and methods. The study included 79 multiple sclerosis patients treated with interferon beta for at least two years. MS was diagnosed basing on Mc Donald criteria. The study group included patients participating in reimbursed immunomodulatory treatment of MS. Disease duration, clinimetric evaluation based on EDSS, relapses rate before and during disease modifying therapy (DMT) were analyzed. Results. Current smokers constituted 19% of MS patients undergoing DMT with interferon beta. No differences in disease duration (3, 2 - 4 and 3, 2 - 4 years; median, interquartile range), EDSS score (1; 0,0 - 1,5 and 1; 0,0 -1,75) and relapse rate before DMT initiation (3; 2,0 - 3,5 and 3, 2,0- 4,0) respectively between smokers and non-smokers were found. Interferon beta treatment caused reduction in relapse rate both in non-smokers (before treatment: 2; 2-3, during DMT: 0; 0-0, median; interquartile range, P<0.0001), and smokers (before treatment : 2; 2-4, during DMT: 0; 0 - 0, P = 0.0001). In non-smoking MS patients the relapse rate during MDT correlated with disease duration (Kendall tau = 0.220; P=0.0270), but such a relationship was not observed in smokers with MS. In multiple regression analysis, in the model including the effect of disease duration, baseline EDSS score and smoking status on relapse rate during DMT tobacco smoking was found as the significant (p=0.0012) and independent factor (B = 0.4597).

  13. Communication and pragmatic breakdowns in amyotrophic lateral sclerosis patients.

    Science.gov (United States)

    Bambini, Valentina; Arcara, Giorgio; Martinelli, Ilaria; Bernini, Sara; Alvisi, Elena; Moro, Andrea; Cappa, Stefano F; Ceroni, Mauro

    2016-02-01

    While there is increasing attention toward cognitive changes in amyotrophic lateral sclerosis (ALS), the domain of pragmatics, defined as the ability to integrate language and context to engage in successful communication, remains unexplored. Here we tested pragmatic abilities in 33 non-demented ALS patients and 33 healthy controls matched for age and education through 6 different tasks, ranging from discourse organization to the comprehension of figurative language, further grouped in three composite measures for pragmatic production, pragmatic comprehension and global pragmatic abilities. For a subgroup of patients, assessment included executive functions and social cognition skills. ALS patients were impaired on all pragmatic tasks relative to controls, with 45% of the patients performing below cut-off in at least one pragmatic task, and 36% impaired on the global pragmatic score. Pragmatic breakdowns were more common than executive deficit as defined by the consensus criteria, and approximately as prevalent as deficits in social cognition. Multiple regression analyses support the idea of an interplay of executive and social cognition abilities in determining the pragmatic performance, although all these domains show some degree of independence. These findings shed light on pragmatic impairment as a relevant dimension of ALS, which deserves further consideration in defining the cognitive profile of the disease, given its vital role for communication and social interaction in daily life. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Upper limb movement analysis during gait in multiple sclerosis patients.

    Science.gov (United States)

    Elsworth-Edelsten, Charlotte; Bonnefoy-Mazure, Alice; Laidet, Magali; Armand, Stephane; Assal, Frederic; Lalive, Patrice; Allali, Gilles

    2017-08-01

    Gait disorders in multiple sclerosis (MS) are well studied; however, no previous study has described upper limb movements during gait. However, upper limb movements have an important role during locomotion and can be altered in MS patients due to direct MS lesions or mechanisms of compensation. The aim of this study was to describe the arm movements during gait in a population of MS patients with low disability compared with a healthy control group. In this observational study we analyzed the arm movements during gait in 52 outpatients (mean age: 39.7±9.6years, female: 40%) with relapsing-remitting MS with low disability (mean EDSS: 2±1) and 25 healthy age-matched controls using a 3-dimension gait analysis. MS patients walked slower, with increased mean elbow flexion and decreased amplitude of elbow flexion (ROM) compared to the control group, whereas shoulder and hand movements were similar to controls. These differences were not explained by age or disability. Upper limb alterations in movement during gait in MS patients with low disability can be characterized by an increase in mean elbow flexion and a decrease in amplitude (ROM) for elbow flexion/extension. This upper limb movement pattern should be considered as a new component of gait disorders in MS and may reflect subtle motor deficits or the use of compensatory mechanisms. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. Emotional Intelligence (EI) of Patients with Multiple Sclerosis (MS).

    Science.gov (United States)

    Ghajarzadeh, Mahsa; Owji, Mahsa; Sauraian, Mohammad Ali; Naser Moghadasi, Abdorreza; Azimi, Amirreza

    2014-11-01

    Multiple sclerosis (MS) is an autoimmune disease that affects physical and emotional aspects of patient's lives. The aim of this study was to evaluate Emotional Intelligence (EI) in cases with MS. One hundred sixty six clinically definite MS and 110 healthy subjects were enrolled in this study. All participants filled valid and reliable Persian version Emotional Quotient inventory (EQ-i) questionnaire, which had been developed due to Bar-On model. Mean EI total score and 12 out of 15 subscales were significantly different between patients and controls. Total EI score and most of its subscales were significantly higher in patients with RR (Relapsing Remitting) than Secondary Progressive (SP) ones. There was significant negative correlation between EDSS and total EI score (rho=-0.4, PMultiple linear regression analysis between the EI as a dependent variable and sex, type of disease, level of education, age and marital status as independent variables in patients showed that type of disease and level of education were independent predictors of EI. Emotional intelligence as the ability to behave better and communicate with others should be considered in MS cases as their physical and psychological health are affected by their illness.

  16. Metabolic response to glatiramer acetate therapy in multiple sclerosis patients

    Directory of Open Access Journals (Sweden)

    Lidia De Riccardis

    2016-12-01

    Full Text Available Glatiramer acetate (GA; Copaxone is a random copolymer of glutamic acid, lysine, alanine, and tyrosine used for the treatment of patients with multiple sclerosis (MS. Its mechanism of action has not been already fully elucidated, but it seems that GA has an immune-modulatory effect and neuro-protective properties. Lymphocyte mitochondrial dysfunction underlines the onset of several autoimmune disorders. In MS first diagnosis patients, CD4+, the main T cell subset involved in the pathogenesis of MS, undergo a metabolic reprogramming that consist in the up-regulation of glycolysis and in the down-regulation of oxidative phosphorylation. Currently, no works exist about CD4+ T cell metabolism in response to GA treatment. In order to provide novel insight into the potential use of GA in MS treatment, blood samples were collected from 20 healthy controls (HCs and from 20 RR MS patients prior and every 6 months during the 12 months of GA administration. GA treated patients' CD4+ T cells were compared with those from HCs analysing their mitochondrial activity through polarographic and enzymatic methods in association with their antioxidant status, through the analysis of SOD, GPx and CAT activities. Altogether, our findings suggest that GA is able to reduce CD4+ T lymphocytes' dysfunctions by increasing mitochondrial activity and their response to oxidative stress.

  17. Metabolic response to glatiramer acetate therapy in multiple sclerosis patients.

    Science.gov (United States)

    De Riccardis, Lidia; Ferramosca, Alessandra; Danieli, Antonio; Trianni, Giorgio; Zara, Vincenzo; De Robertis, Francesca; Maffia, Michele

    2016-12-01

    Glatiramer acetate (GA; Copaxone) is a random copolymer of glutamic acid, lysine, alanine, and tyrosine used for the treatment of patients with multiple sclerosis (MS). Its mechanism of action has not been already fully elucidated, but it seems that GA has an immune-modulatory effect and neuro-protective properties. Lymphocyte mitochondrial dysfunction underlines the onset of several autoimmune disorders. In MS first diagnosis patients, CD4 + , the main T cell subset involved in the pathogenesis of MS, undergo a metabolic reprogramming that consist in the up-regulation of glycolysis and in the down-regulation of oxidative phosphorylation. Currently, no works exist about CD4 + T cell metabolism in response to GA treatment. In order to provide novel insight into the potential use of GA in MS treatment, blood samples were collected from 20 healthy controls (HCs) and from 20 RR MS patients prior and every 6 months during the 12 months of GA administration. GA treated patients' CD4 + T cells were compared with those from HCs analysing their mitochondrial activity through polarographic and enzymatic methods in association with their antioxidant status, through the analysis of SOD, GPx and CAT activities. Altogether, our findings suggest that GA is able to reduce CD4 + T lymphocytes' dysfunctions by increasing mitochondrial activity and their response to oxidative stress.

  18. The burden of multiple sclerosis and patients' coping strategies.

    Science.gov (United States)

    Lorefice, Lorena; Fenu, Giuseppe; Frau, Jessica; Coghe, Giancarlo; Marrosu, Maria Giovanna; Cocco, Eleonora

    2018-03-01

    Multiple sclerosis (MS) is a chronic disease that mainly affects young people. Patients with MS experience several emotional responses to changed perceptions of themselves and manage this situation in ways focused on controlling the overall burden of disease. This present study aimed to evaluate differences between patients with MS and healthy controls (HCs) in coping styles, identifying the MS clinical features that influence adaptive responses. Patients with MS, according to the McDonald 2010 criteria, and HCs were recruited. Coping strategies were assessed using the Coping Orientation to the Problems Experienced (COPE-NVI; Italian version) questionnaire. A cohort of 135 patients with MS (female: 89/135, 65.9%) and 94 HCs (female: 64/94, 68%) were enrolled. Impaired social support and problem solving was noted for MS group (p=0.005). In the MS group, the social support worsened with increasing disease duration (p=0.002) independently of the level of disability. Associations between a higher Expanded Disability Status Scale score and avoidance strategies (pcoping mechanisms aimed to manage the burden of MS. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  19. Work Disability in Early Systemic Sclerosis

    DEFF Research Database (Denmark)

    Sandqvist, Gunnel; Hesselstrand, Roger; Petersson, Ingemar F

    2015-01-01

    of WD per year (0-3) and as the period prevalence of mean net days per month (± SD). Comparisons were made between patients with different disease severity and sociodemographic characteristics, and between patients and a reference group (RG) from the general population. RESULTS: Seventy-eight percent...... severity, but between WD and years at workplace (rs = -0.72; p = 0.002), education (rs = -0.51; p = 0.004), and sickness absence the month before disease onset (rs = 0.58; p = 0.001), respectively. CONCLUSION: Considerable increase in WD was noted 3 years after disease onset. Limited education, fewer years...... at workplace, and sickness absence before disease onset may be risk factors for sustained WD....

  20. The Audio Recorded Cognitive Screen (ARCS) in patients with multiple sclerosis: a practical tool for multiple sclerosis clinics.

    Science.gov (United States)

    Lechner-Scott, J; Kerr, T; Spencer, B; Agland, S; Lydon, A; Schofield, P W

    2010-09-01

    Cognitive impairment is a common complication of multiple sclerosis, even in early stage disease, with significant impacts on life quality and social interaction. However, its detection is highly test-dependent. To validate a recently described screening tool, the ARCS, for detecting cognitive impairment in a multiple sclerosis population. The ARCS administers tests of executive function, memory, visual spatial construction and language via an audio device to unsupervised patients who write their responses for later scoring. Some 127 patients with a wide variety of disease course and severity were assessed by ARCS, of whom 87 also completed the Paced Auditory Serial Addition Test (PASAT) and 45 underwent formal ('gold standard') neuropsychological testing. Compared with PASAT, we found that the ARCS showed better sensitivity (86% versus 68%) at equivalent specificity (71%) for detection of impairment in any cognitive domain, and superiority in the detection of memory and executive impairments. Acceptance and completion rates for the ARCS were as good or better than for the PASAT. ARCS is sensitive, well-tolerated, easy to administer and facilitates comprehensive cognitive assessment in less than 5 min of clinician time. It has several advantages over the PASAT for detecting cognitive impairment in patients with multiple sclerosis.

  1. EBV and vitamin D status in relapsing-remitting multiple sclerosis patients with a unique cytokine signature.

    Science.gov (United States)

    Nejati, Ahmad; Shoja, Zabihollah; Shahmahmoodi, Shohreh; Tafakhori, Abbas; Mollaei-Kandelous, Yaghoub; Rezaei, Farhad; Hamid, Kabir Magaji; Mirshafiey, Abbas; Doosti, Rozita; Sahraian, Mohammad Ali; Mahmoudi, Mahmood; Shokri, Fazel; Emery, Vince; Marashi, Sayed Mahdi

    2016-04-01

    Multiple sclerosis, a debilitating autoimmune and inflammatory disease of the central nervous system, is associated with both infectious and non-infectious factors. We investigated the role of EBV infection, vitamin D level, and cytokine signature in MS patients. Molecular and serological assays were used to investigate immune biomarkers, vitamin D level, and EBV status in 83 patients with relapsing-remitting multiple sclerosis and 62 healthy controls. In total, 98.8 % of MS patients showed a history of EBV exposure compared to 88.6 % in the healthy group (p = 0.005). EBV DNA load was significantly higher in MS patients than healthy subjects (p vitamin D concentration and EBV load, but not EBNA-1 IgG antibody levels. Our data highlight biomarker correlates in MS patients together with a complex interplay between EBV replication and vitamin D levels.

  2. Is metabolic flexibility altered in multiple sclerosis patients?

    Directory of Open Access Journals (Sweden)

    Anja Mähler

    Full Text Available OBJECTIVES: Metabolic flexibility is defined as ability to adjust fuel oxidation to fuel availability. Multiple sclerosis (MS results in reduced muscle strength and exercise intolerance. We tested the hypothesis that altered metabolic flexibility contributes to exercise intolerance in MS patients. METHODS: We studied 16 patients (all on glatiramer and 16 matched healthy controls. Energy expenditure (EE, and carbohydrate (COX and lipid oxidation (LOX rates were determined by calorimetry, before and after an oral glucose load. We made measurements either at rest (canopy device or during 40 min low-grade (0.5 W/kg exercise (metabolic chamber. We also obtained plasma, and adipose tissue and skeletal muscle dialysate samples by microdialysis to study tissue-level metabolism under resting conditions. RESULTS: At rest, fasting and postprandial plasma glucose, insulin, and free fatty acid levels did not differ between patients and controls. Fasting and postprandial COX was higher and LOX lower in patients. In adipose, fasting and postprandial dialysate glucose, lactate, and glycerol levels were higher in patients vs. controls. In muscle, fasting and postprandial dialysate metabolite levels did not differ significantly between the groups. During exercise, EE did not differ between the groups. However, COX increased sharply over 20 min in patients, without reaching a steady state, followed by an immediate decrease within the next 20 min and fell even below basal levels after exercise in patients, compared to controls. CONCLUSIONS: Glucose tolerance is not impaired in MS patients. At rest, there is no indication for metabolic inflexibility or mitochondrial dysfunction in skeletal muscle. The increased adipose tissue lipolytic activity might result from glatiramer treatment. Autonomic dysfunction might cause dysregulation of postprandial thermogenesis at rest and lipid mobilization during exercise.

  3. Central nervous system remyelination in culture — A tool for multiple sclerosis research

    Science.gov (United States)

    Zhang, Hui; Jarjour, Andrew A.; Boyd, Amanda; Williams, Anna

    2011-01-01

    Multiple sclerosis is a demyelinating disease of the central nervous system which only affects humans. This makes it difficult to study at a molecular level, and to develop and test potential therapies that may change the course of the disease. The development of therapies to promote remyelination in multiple sclerosis is a key research aim, to both aid restoration of electrical impulse conduction in nerves and provide neuroprotection, reducing disability in patients. Testing a remyelination therapy in the many and various in vivo models of multiple sclerosis is expensive in terms of time, animals and money. We report the development and characterisation of an ex vivo slice culture system using mouse brain and spinal cord, allowing investigation of myelination, demyelination and remyelination, which can be used as an initial reliable screen to select the most promising remyelination strategies. We have automated the quantification of myelin to provide a high content and moderately-high-throughput screen for testing therapies for remyelination both by endogenous and exogenous means and as an invaluable way of studying the biology of remyelination. PMID:21515259

  4. Central nervous system remyelination in culture--a tool for multiple sclerosis research.

    Science.gov (United States)

    Zhang, Hui; Jarjour, Andrew A; Boyd, Amanda; Williams, Anna

    2011-07-01

    Multiple sclerosis is a demyelinating disease of the central nervous system which only affects humans. This makes it difficult to study at a molecular level, and to develop and test potential therapies that may change the course of the disease. The development of therapies to promote remyelination in multiple sclerosis is a key research aim, to both aid restoration of electrical impulse conduction in nerves and provide neuroprotection, reducing disability in patients. Testing a remyelination therapy in the many and various in vivo models of multiple sclerosis is expensive in terms of time, animals and money. We report the development and characterisation of an ex vivo slice culture system using mouse brain and spinal cord, allowing investigation of myelination, demyelination and remyelination, which can be used as an initial reliable screen to select the most promising remyelination strategies. We have automated the quantification of myelin to provide a high content and moderately-high-throughput screen for testing therapies for remyelination both by endogenous and exogenous means and as an invaluable way of studying the biology of remyelination. Copyright © 2011 Elsevier Inc. All rights reserved.

  5. Pneumatosis Intestinalis as the Initial Presentation of Systemic Sclerosis: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Farshid Ejtehadi

    2012-01-01

    Full Text Available Introduction. Pneumatosis intestinalis (PI is an uncommon pathology characterised by the presence of gas within the intestinal wall. It has been associated with various conditions, including connective tissue diseases. This is the first report of PI being the initial presentation of systemic sclerosis. Case Presentation. The patient, a 75-year-old female, presented with an 8-month history of worsening dysphagia and epigastric pain, as well as other nonspecific symptoms. Initial investigations with an oesophagogastroduodenoscopy diagnosed Candida oesophagitis and also identified an extrinsic compression of the gastric antrum. Subsequently a CT scan of the abdomen and pelvis showed moderately dilated small bowel loops and PI. Due to the patient’s stability, non-critical clinical condition, conservative management was instituted. More detailed investigations confirmed the diagnosis of systemic sclerosis with positive anticentromeric and antinuclear antibodies. The patient improved on methotrexate and was discharged with appropriate outpatient follow-up. Discussion. PI is a rare but well-documented pathology associated with connective tissue diseases, such as systemic sclerosis. In most cases, conservative management is preferable to surgical intervention, depending on the patient’s clinical presentation and progress. This is the first report of PI being the initial presentation of a patient with systemic sclerosis responsive to conservative management.

  6. Correlation between white matter damage and gray matter lesions in multiple sclerosis patients

    Directory of Open Access Journals (Sweden)

    Xue-mei Han

    2017-01-01

    Full Text Available We observed the characteristics of white matter fibers and gray matter in multiple sclerosis patients, to identify changes in diffusion tensor imaging fractional anisotropy values following white matter fiber injury. We analyzed the correlation between fractional anisotropy values and changes in whole-brain gray matter volume. The participants included 20 patients with relapsing-remitting multiple sclerosis and 20 healthy volunteers as controls. All subjects underwent head magnetic resonance imaging and diffusion tensor imaging. Our results revealed that fractional anisotropy values decreased and gray matter volumes were reduced in the genu and splenium of corpus callosum, left anterior thalamic radiation, hippocampus, uncinate fasciculus, right corticospinal tract, bilateral cingulate gyri, and inferior longitudinal fasciculus in multiple sclerosis patients. Gray matter volumes were significantly different between the two groups in the right frontal lobe (superior frontal, middle frontal, precentral, and orbital gyri, right parietal lobe (postcentral and inferior parietal gyri, right temporal lobe (caudate nucleus, right occipital lobe (middle occipital gyrus, right insula, right parahippocampal gyrus, and left cingulate gyrus. The voxel sizes of atrophic gray matter positively correlated with fractional anisotropy values in white matter association fibers in the patient group. These findings suggest that white matter fiber bundles are extensively injured in multiple sclerosis patients. The main areas of gray matter atrophy in multiple sclerosis are the frontal lobe, parietal lobe, caudate nucleus, parahippocampal gyrus, and cingulate gyrus. Gray matter atrophy is strongly associated with white matter injury in multiple sclerosis patients, particularly with injury to association fibers.

  7. Antecedents of Coping with the Disease in Patients with Multiple Sclerosis: A Qualitative Content Analysis.

    Science.gov (United States)

    Dehghani, Ali; Dehghan Nayeri, Nahid; Ebadi, Abbas

    2017-01-01

    Due to many physical and mental disorders that occur in multiple sclerosis patients, identifying the factors affecting coping based on the experiences of patients using qualitative study is essential to improve their quality of life. This study was conducted to explore the antecedents of coping with the disease in patients with multiple sclerosis. This is a qualitative study conducted on 11 patients with multiple sclerosis in 2015 in Tehran, Iran. These patients were selected based on purposive sampling. Data were collected using semi-structured and in-depth interviews and coded. These data were analyzed using the conventional content analysis. The rigor of qualitative data using the criteria proposed by Guba and Lincoln were assessed. Five main categories were revealed: (1) social support, (2) lenience, (3) reliance on faith, (4) knowledge of multiple sclerosis and modeling, and (5) economic and environmental situation. Each category had several distinct sub-categories. The results of this study showed that coping with multiple sclerosis is a complex, multidimensional and contextual concept that is affected by various factors in relation to the context of Iran. The findings of the study can provide the healthcare professionals with deeper recognition and understanding of these antecedents to improve successful coping in Iranian patients suffering from multiple sclerosis.

  8. 'Chronic cerebrospinal venous insufficiency' in multiple sclerosis. Is multiple sclerosis a disease of the cerebrospinal venous outflow system?

    International Nuclear Information System (INIS)

    Wattjes, M.P.; Doepp, F.; Bendszus, M.; Fiehler, J.

    2011-01-01

    Chronic impaired venous outflow from the central nervous system has recently been claimed to be associated with multiple sclerosis (MS) pathology. This resulted in the term chronic cerebrospinal venous insufficiency (CCSVI) in MS. The concept of CCSVI is based on sonography studies showing that impaired venous outflow leading to pathological reflux is almost exclusively present in MS patients but not in healthy controls. Based on these findings, a new pathophysiological concept has been introduced suggesting that chronic venous outflow obstruction and venous reflux in the CNS result in pathological iron depositions leading to inflammation and neurodegeneration. The theory of CCSVI in MS has rapidly generated tremendous interest in the media and among patients and the scientific community. In particular, the potential shift in treatment concepts possibly leading to an interventional treatment approach including balloon angioplasty and venous stent placement is currently being debated. However, results from recent studies involving several imaging modalities have raised substantial concerns regarding the CCSVI concept in MS. In this review article, we explain the concept of CCSVI in MS and discuss this hypothesis in the context of MS pathophysiology and imaging studies which have tried to reproduce or refute this theory. In addition, we draw some major conclusions focusing in particular on the crucial question as to whether interventional treatment options are expedient. In conclusion, the present conclusive data confuting the theory of CCSVI in MS should lead to reluctance with respect to the interventional treatment of possible venous anomalies in MS patients. (orig.)

  9. Pulseless electrical activity during general anesthesia induction in patients with amyotrophic lateral sclerosis.

    Science.gov (United States)

    You, Tae Min; Kim, Seungoh

    2017-09-01

    Pulseless electrical activity (PEA) is a clinical condition characterized by unresponsiveness and lack of palpable pulse in the presence of organized cardiac electrical activity and is caused by a profound cardiovascular insult (e.g., severe prolonged hypoxia or acidosis, extreme hypovolemia, or flow-restricting pulmonary embolus). Amyotrophic lateral sclerosis (ALS) is a disease that is characterized by progressive degeneration of all levels of the motor nervous system. Damage to the respiratory system and weakness of the muscles may increase the likelihood of an emergency situation occurring in patients with ALS while under general anesthesia. We report a case of PEA during the induction of general anesthesia in a patient with ALS who presented for dental treatment and discuss the causes of PEA and necessary considerations for general anesthesia in patients with ALS.

  10. Fatigue and Mood States in Nursing Home and Nonambulatory Home-Based Patients with Multiple Sclerosis.

    Science.gov (United States)

    Younus, Zilfah; Vaughn, Caila B; Sanai, Shaik Ahmed; Kavak, Katelyn S; Gupta, Sahil; Nadeem, Muhammad; Teter, Barbara E; Noyes, Katia; Zivadinov, Robert; Edwards, Keith; Coyle, Patricia K; Goodman, Andrew; Weinstock-Guttman, Bianca

    2017-01-01

    Multiple sclerosis (MS) is a chronic, progressively disabling condition of the central nervous system. We sought to evaluate and compare mood states in patients with MS with increased disability residing in nursing homes and those receiving home-based care. We conducted a cross-sectional analysis of the New York State Multiple Sclerosis Consortium to identify patients with MS using a Kurtzke Expanded Disability Status Scale (EDSS) score of 7.0 or greater. The nursing home group was compared with home-based care patients regarding self-reported levels of loneliness, pessimism, tension, panic, irritation, morbid thoughts, feelings of guilt, and fatigue using independent-samples t tests and χ 2 tests. Multivariate logistic regression analyses were used to investigate risk-adjusted differences in mood states. Ninety-four of 924 patients with EDSS scores of at least 7.0 lived in a nursing home (10.2%). Nursing home patients were less likely to use disease-modifying therapy and had higher mean EDSS scores compared with home-based patients. However, nursing home patients were less likely than home-based patients to report fatigue (odds ratio [OR] for no fatigue, 3.8; 95% CI, 2.1-7.2), feeling tense (OR for no tension, 1.7; 95% CI, 1.1-2.7), and having feelings of pessimism (OR for no pessimism, 1.8; 95% CI, 1.2-2.8). The nursing home patients with MS were less likely to report fatigue, pessimism, and tension than those receiving home-based care. Further studies should examine ways of facilitating a greater degree of autonomy and decision-making control in MS patients receiving home-based care.

  11. Application of the 2012 revised diagnostic definitions for paediatric multiple sclerosis and immune-mediated central nervous system demyelination disorders

    NARCIS (Netherlands)

    van Pelt, E. Danielle; Neuteboom, Rinze F.; Ketelslegers, Immy A.; Boon, Maartje; Catsman-Berrevoets, Coriene E.; Hintzen, Rogier Q.

    Background Recently, the International Paediatric Multiple Sclerosis Study Group (IPMSSG) definitions for the diagnosis of immune-mediated acquired demyelinating syndromes (ADS) of the central nervous system, including paediatric multiple sclerosis (MS), have been revised. Objective To evaluate the

  12. A wireless body measurement system to study fatigue in multiple sclerosis

    DEFF Research Database (Denmark)

    Yu, Fei; Rabotti, Chiara; Bilberg, Arne

    2012-01-01

    Fatigue is reported as the most common symptom by patients with multiple sclerosis (MS). The physiological and functional parameters related to fatigue in MS patients are currently not well established. A new wearable wireless body measurement system, named Fatigue Monitoring System (FAMOS......), was developed to study fatigue in MS. It can continuously measure electrocardiogram, body-skin temperature, electromyogram and motions of feet. The goal of this study is to test the ability of distinguishing fatigued MS patients from healthy subjects by the use of FAMOS. This paper presents the realization...... of the measurement system including the design of both hardware and dedicated signal processing algorithms. Twenty-six participants including 17 MS patients with fatigue and 9 sex- and age-matched healthy controls were included in the study for continuous 24 h monitoring. The preliminary results show significant...

  13. Effects of whole-body vibration training in patients with multiple sclerosis: A systematic review.

    Science.gov (United States)

    Castillo-Bueno, I; Ramos-Campo, D J; Rubio-Arias, J A

    2016-07-19

    Multiple sclerosis (MS) is an autoimmune inflammatory disease of the central nervous system. MS is characterised by nerve demyelination that can alter nerve transmission and lead to such symptoms as fatigue, muscle weakness, and impaired motor function. There are 47 000 people with MS in Spain. Vibration training can be an effective and complementary alternative to traditional exercise to treat patients with MS. The aim of this study was to analyse the effectiveness of vibration training programmes in patients with MS. We searched 5 electronic databases (PubMed, SPORTDiscus, SciELO, Lilacs, IBECS, and ISI Web of Knowledge) in August 2015. By using a set of keywords, we found studies linking vibration training and MS and included randomised controlled trials that applied vibration training to patients with MS. Our search yielded 71 studies. Only 9 of them were included after removing duplicate studies and those which were not relevant according to our selection criteria. These studies obtained different outcomes. Some studies found improvements in muscle strength, functional capacity, coordination, resistance, balance, and some areas of MSSS-88. However, we identified limitations in some of these studies and there are still few publications on vibration training and multiple sclerosis to ensure training effectiveness. Copyright © 2016 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  14. Physical fitness assessment in multiple sclerosis patients: a controlled study.

    Science.gov (United States)

    Guerra, E; di Cagno, A; Mancini, P; Sperandii, F; Quaranta, F; Ciminelli, E; Fagnani, F; Giombini, A; Pigozzi, F

    2014-10-01

    There is growing evidence to show the effectiveness of physical exercise for multiple sclerosis (MS) patients. Aim of this study was to evaluate aerobic capacity, strength, balance, and the rate of perceived exertion (RPE) after exercise, in ambulatory patients with mild MS and matched control healthy participants. Seventeen MS patients aged 48.09 ± 10.0 years, with mild MS disability (Expanded Disability Status Scale: EDSS 1.5 to 4.5) and 10 healthy sedentary age matched (41.9 ± 11.2 years) subjects volunteered for the study. MS patients underwent medical examination with resting electrocardiogram, arterial blood pressure, EDSS, and Modified Fatigue Impact Scale-MFIS. Both groups also underwent physical assessment with the Berg Balance Scale(,) test (Berg), Six Minutes Walking Test (6MWT), maximal isometric voluntary contraction (MIVC) of forearm, lower limb, shoulder strength test, and the Borg 10-point scale test. The one-way ANOVA showed significant differences for MFIS (F1.19=9.420; p<0.01), Berg (F1.19=13.125; p<0.01), handgrip MIVC (F1.19=4.567; p<0.05), lower limbs MIVC (F1.19=7.429; p<0.01), and 6MWT (F1.19=28.061; p<0.01) between groups. EDSS, Berg test and Borg scores explained 80% of 6MWT variation. Mild grade EDSS patients exhibited impaired balance, muscle strength, and low self pace-6MWT scores, whereas RPE response after the exercise was similar to that of sedentary individuals. Both groups showed similar global physiological adjustments to exercise. Copyright © 2014 Elsevier Ltd. All rights reserved.

  15. Oxidative Stress is Increased in Serum from Mexican Patients with Relapsing-Remitting Multiple Sclerosis

    Science.gov (United States)

    Ortiz, Genaro Gabriel; Macías-Islas, Miguel Ángel; Pacheco-Moisés, Fermín P.; Cruz-Ramos, José A.; Sustersik, Silvia; Barba, Elías Alejandro; Aguayo, Adriana

    2009-01-01

    Objective: To determine the oxidative stress markers in serum from patients with relapsing-remitting multiple sclerosis. Methods: Blood samples from healthy controls and 22 patients 15 women (7 aged from 20 to 30 and 8 were > 40 years old) and 7 men (5 aged from 20 to 30 and 2 were > 40 years old) fulfilling the McDonald Criteria and classified as having Relapsing-Remitting Multiple Sclerosis accordingly with Lublin were collected for oxidative stress markers quantification. Results: Nitric oxide metabolites (nitrates/nitrites), lipid peroxidation products (malondialdehyde plus 4-hidroxialkenals), and glutathione peroxidase activity were significantly increased in serum of subjects with relapsing-remitting multiple sclerosis in comparison with that of healthy controls. These data support the hypothesis that multiple sclerosis is a component closely linked to oxidative stress. PMID:19242067

  16. Oxidative Stress is Increased in Serum from Mexican Patients with Relapsing-Remitting Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Genaro Gabriel Ortiz

    2009-01-01

    Full Text Available Objective: To determine the oxidative stress markers in serum from patients with relapsing-remitting multiple sclerosis. Methods: Blood samples from healthy controls and 22 patients 15 women (7 aged from 20 to 30 and 8 were > 40 years old and 7 men (5 aged from 20 to 30 and 2 were > 40 years old fulfilling the McDonald Criteria and classified as having Relapsing-Remitting Multiple Sclerosis accordingly with Lublin were collected for oxidative stress markers quantification. Results: Nitric oxide metabolites (nitrates/nitrites, lipid peroxidation products (malondialdehyde plus 4-hidroxialkenals, and glutathione peroxidase activity were significantly increased in serum of subjects with relapsing-remitting multiple sclerosis in comparison with that of healthy controls. These data support the hypothesis that multiple sclerosis is a component closely linked to oxidative stress.

  17. Interferon beta and vitamin D synergize to induce immunoregulatory receptors on peripheral blood monocytes of multiple sclerosis patients.

    Directory of Open Access Journals (Sweden)

    Anne Waschbisch

    Full Text Available Immunoglobulin-like transcript (ILT 3 and 4 are inhibitory receptors that modulate immune responses. Their expression has been reported to be affected by interferon, offering a possible mechanism by which this cytokine exerts its therapeutic effect in multiple sclerosis, a condition thought to involve excessive immune activity. To investigate this possibility, we measured expression of ILT3 and ILT4 on immune cells from multiple sclerosis patients, and in post-mortem brain tissue. We also studied the ability of interferon beta, alone or in combination with vitamin D, to induce upregulation of these receptors in vitro, and compared expression levels between interferon-treated and untreated multiple sclerosis patients. In vitro interferon beta treatment led to a robust upregulation of ILT3 and ILT4 on monocytes, and dihydroxyvitamin D3 increased expression of ILT3 but not ILT4. ILT3 was abundant in demyelinating lesions in postmortem brain, and expression on monocytes in the cerebrospinal fluid was higher than in peripheral blood, suggesting that the central nervous system milieu induces ILT3, or that ILT3 positive monocytes preferentially enter the brain. Our data are consistent with involvement of ILT3 and ILT4 in the modulation of immune responsiveness in multiple sclerosis by both interferon and vitamin D.

  18. Tratamento de pacientes com úlceras isquêmicas secundárias à esclerose sistêmica com N-acetilcisteína endovenosa Treatment of patients with isquemic ulcers secondary to systemic sclerosis with intravenous N-acetylcysteine

    Directory of Open Access Journals (Sweden)

    Cristiane Kayser

    2006-04-01

    Full Text Available Os repetidos episódios de isquemia-reperfusão observados na esclerose sistêmica (ES acarretam aumento na atividade de radicais livres, o que pode estar implicado nas anormalidades vasculares e inflamatórias descritas nessa enfermidade. A N-acetilcisteína sob forma endovenosa é uma potente droga antioxidante e, como tal, poderia ter efeito benéfico para o tratamento das lesões vasculares da ES. Relatamos o tratamento com N-acetilcisteína endovenosa de três pacientes com diagnóstico de ES e com úlceras ativas de extremidades (dígitos ou artelhos. Dois pacientes apresentavam duas úlceras digitais e o terceiro paciente, três úlceras em artelhos no início do tratamento. Todos os pacientes apresentaram diminuição no diâmetro de pelo menos uma úlcera após o tratamento. Duas pacientes apresentaram cicatrização de uma úlcera. Esses resultados preliminares sugerem que a N-acetilcisteína endovenosa parece ser uma boa opção terapêutica para o tratamento de úlceras de extremidades em pacientes com ES e justificam a elaboração de ensaios controlados duplo-cego com placebo.The repetitive ischemic-reperfusion episodes in patients with systemic sclerosis (SSc cause an increase in free radical activity, which may be implicated in the inflammatory and vascular lesions observed in this illness. Endovenous N-acetylicysteine is a potent anti-oxidant agent and might be beneficial to the treatment of vascular events in SSc. This communication reports on the use of endovenous N-acetylcysteine in three SSc patients with active ulcers in fingers and toes. At baseline, two patients presented two finger ulcers each, and a third patient had three ulcers in the toes. All patients presented a decrease in the dimensions of at least one ulcer. Two patients presented complete healing of one ulcer. These preliminary results suggest that endovenous N-acetylcysteine may be an efficient therapeutic option for extremity ulcers in SSc patients and

  19. Employment of patients with multiple sclerosis: the influence of psychosocial-structural coping and context

    OpenAIRE

    Vijayasingham,Lavanya; Mairami,Fatima Fanna

    2018-01-01

    Lavanya Vijayasingham,1,2 Fatima Fanna Mairami1 1Jeffrey Cheah School of Medicine, Monash University Malaysia, Bandar Sunway, Malaysia; 2Multiple Sclerosis Society of Malaysia, Petaling Jaya, Malaysia Abstract: Patients with multiple sclerosis tend to report higher levels of work difficulties and negative outcomes, such as voluntary and involuntary work termination and reduced work participation. In this article, we discuss the complex interactions of disease, personal coping strategies, and ...

  20. The cross-cultural adaptation and psychometric validation of the MSSS-88 for use in Italian patients with multiple sclerosis.

    Science.gov (United States)

    Ottonello, Marcella; Pellicciari, Leonardo; Centonze, Diego; Foti, Calogero; Pistarini, Caterina; Albensi, Caterina; Giordano, Andrea

    2017-10-25

    To cross-culturally translate the Multiple Sclerosis Spasticity Scale into Italian and to evaluate its psychometric properties in patients with multiple sclerosis. The Italian version of Multiple Sclerosis Spasticity Scale was developed in accordance with international standards and subsequently administered to 232 Italian adults with multiple sclerosis. The following psychometric properties were analyzed: internal consistency through Cronbach's α and item-to-total correlation, dimensionality with factor analysis, and convergent and criterion validity through hypotheses-testing, comparing the Multiple Sclerosis Spasticity Scale with other outcome measures (Fatigue Severity Scale, Multiple Sclerosis Quality of Life, Modified Ashworth Scale, Barthel Index, and Expanded Disability Status Scale) and analyzing related constructs. Finally, we correlated the MSSS-88 subscales with each other. The final Multiple Sclerosis Spasticity Scale version was well-understood by all subjects. The internal consistency was good (Cronbach's α ≥0.90). Factor analysis revealed that each subscale was unidimensional. Convergent and criterion validity were supported by acceptable correlations with other disease-specific questionnaires, according to the a priori expectations. The final Italian Multiple Sclerosis Spasticity Scale version showed robust psychometric properties. Therefore, it can be recommended as an assessment tool for clinical and research use to evaluate spasticity in Italian patients with multiple sclerosis. Implications for rehabilitation The Multiple Sclerosis Spasticity Scale was developed to measure patients' perception of the impact of spasticity on life of subjects with multiple sclerosis. In a sample of Italian subjects with multiple sclerosis, the Multiple Sclerosis Spasticity Scale revealed good internal consistency and convergent and criterion validity. Factor analysis demonstrated that each subscale was unidimensional. Each subscale can be used to assess the

  1. Medulloblastoma and gliomatosis cerebri: rare brain tumors in multiple sclerosis patients.

    Science.gov (United States)

    da Silva, Ana Alexandra Duarte Martins; dos Santos Cavaco, Sara Marta Pereira; Taipa, Ricardo Jorge Ferreira; Pinto, Pedro Ricardo Soares; Pires, Manuel Jorge Rocha Melo

    2011-10-01

    The simultaneous appearance of both multiple sclerosis (MS) and central nervous system (CNS) tumors is relatively uncommon. Whether the co-existence of two diseases is due to chance alone or the result of a causal relationship is still a matter of debate. There is also controversy about the effect of long-term exposure of MS patients to immunomodulatory drugs on the incidence of cancer. This paper reports two cases of rare CNS tumors (i.e., medulloblastoma and gliomatosis cerebri) in adult MS patients. Our cases emphasize that when uncommon neurological features appear in patients with MS, brain magnetic resonance imaging (MRI) ought to be done and brain biopsy should be considered to exclude a concomitant CNS disorder. These procedures are essential for the differential diagnosis and early treatment.

  2. Quantitative measurement of vibratory sense and temperature sense in patients with multiple sclerosis.

    Science.gov (United States)

    Heijenbrok, M W; Anema, J R; Faes, T J; Bertelsmann, F W; Heimans, J J; Polman, C H

    1992-01-01

    In this study the vibratory perception threshold (VPT) and the thermal discrimination threshold (TDT) were measured in 33 patients with clinically definite multiple sclerosis (MS). VPT values were abnormal in a majority of MS patients (68%). There was no relation between VPT and the severity of the disease. TDT values were elevated less frequently (30%); abnormal TDTs were found only in patients with severe disease. It is suggested that this can be explained by MS-plaques having predilection sites within the central nervous system and by differences in functional and morphological properties of sensory pathways. Quantitative measurements of VPT and TDT seem to be suitable techniques for the detection of minor sensory signs of central origin.

  3. Isolated pulmonary veno-occlusive disease and pulmonary arterial thrombosis in systemic sclerosis – a lethal combination

    Directory of Open Access Journals (Sweden)

    Arun Jeevagan

    2010-05-01

    Full Text Available Arun JeevaganGeneral Medicine, Ipswich NHS Hospital, UKBackground: Isolated pulmonary hypertension secondary to systemic sclerosis is not uncommon. Our patient with systemic sclerosis presented with a very aggressive form of pulmonary hypertension due to a lethal combination of pulmonary veno-occlusive disease (PVOD and pulmonary arterial thrombosis. This combined presentation has never before been reported in medical literature.Case report: A 75-year-old woman with a 4-month history of atypical chest pains was admitted with a 3-week history of worsening symptoms of shortness of breath, reduced exercise tolerance, and bilateral pitting edema. On examination she had thickened skin in her hands, telangiectasia on her face, maculopapular rash in her legs, raised jugular venous pressure, and bilateral pitting edema. Her autoimmune profile revealed positive anticentromere antibodies, and her echocardiogram showed right ventricular systolic pressure of 91 mmHg. She also had renal impairment secondary to hypoperfusion. A diagnosis of isolated pulmonary hypertension secondary to limited systemic sclerosis was made. As she was clinically improving on slow diuretic infusion and awaiting transfer to a specialist center for management of pulmonary hypertension, our patient died due to cardiopulmonary arrest. Her postmortem revealed that she died of a combination of PVOD and pulmonary arteriopathy due to thrombosis.Conclusion: This is clearly a unique case both in presentation and difficulty of management. Pulmonary vasodilators used in therapy of pulmonary arteriopathy can be detrimental in patients with PVOD. There is no definitive investigation, curative treatment, or management, that exists for a combination of PVOD and pulmonary arteriopathy due to thrombosis secondary to systemic sclerosis.Keywords: pulmonary veno-occlusive disease, pulmonary arterial hypertension, systemic sclerosis, pulmonary arteriopathy with thrombosis

  4. Multiplex array analysis of circulating cytokines and chemokines in natalizumab-treated patients with multiple sclerosis.

    Science.gov (United States)

    Villani, Sonia; Zanotta, Nunzia; Ambrogi, Federico; Comar, Manola; Franciotta, Diego; Dolci, Maria; Cason, Carolina; Ticozzi, Rosalia; Ferrante, Pasquale; Delbue, Serena

    2017-09-15

    Natalizumab greatly reduces inflammatory relapses in multiple sclerosis (MS) by blocking the integrin-mediated leukocyte traffic to the brain, but less is known about its effects on the systemic immunity. We measured 48 cytokines/chemokines in sera from 19 natalizumab-treated MS patients. Serum concentrations of both anti-(IL-10, IL1ra) and pro-inflammatory (IL7, IL16) molecules decreased after 21-month treatment, without associations to unbalanced Th2/Th1cytokine ratios, clinical responses, and blood/urine replication of polyomavirus JC (JCPyV). No patient developed the JCPyV-related progressive multifocal leukoencephalopathy (PML), the major risk factor of natalizumab therapy. Our data suggest that natalizumab has marginal impact on the systemic immunity. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. Physiologic abnormalities of cardiac function in progressive systemic sclerosis with diffuse scleroderma

    International Nuclear Information System (INIS)

    Follansbee, W.P.; Curtiss, E.I.; Medsger, T.A. Jr.; Steen, V.D.; Uretsky, B.F.; Owens, G.R.; Rodnan, G.P.

    1984-01-01

    To investigate cardiopulmonary function in progressive systemic sclerosis with diffuse scleroderma, we studied 26 patients with maximal exercise and redistribution thallium scans, rest and exercise radionuclide ventriculography, pulmonary-function testing, and chest roentgenography. Although only 6 patients had clinical evidence of cardiac involvement, 20 had abnormal thallium scans, including 10 with reversible exercise-induced defects and 18 with fixed defects (8 had both). Seven of the 10 patients who had exercise-induced defects and underwent cardiac catheterization had normal coronary angiograms. Mean resting left ventricular ejection fraction and mean resting right ventricular ejection fraction were lower in patients with post-exercise left ventricular thallium defect scores above the median (59 +/- 13 per cent vs. 69 +/- 6 per cent, and 36 +/- 12 per cent vs. 47 +/- 7 per cent, respectively). The authors conclude that in progressive systemic sclerosis with diffuse scleroderma, abnormalities of myocardial perfusion are common and appear to be due to a disturbance of the myocardial microcirculation. Both right and left ventricular dysfunction appear to be related to this circulatory disturbance, suggesting ischemically mediated injury

  6. Risk factors for severity and manifestations in systemic sclerosis and prediction of disease course.

    Science.gov (United States)

    Becker, Mike O; Riemekasten, Gabriela

    2016-01-01

    Systemic sclerosis (SSc, or scleroderma) is a rheumatic disease with distinct features that encompass autoimmunity, vascular lesions (vasculopathy) and tissue fibrosis. The disease has a high morbidity and mortality compared with other rheumatic diseases. This review discusses risk factors and markers that predict the disease course and the occurrence of disease manifestations, with an emphasis on major organ involvement. In addition, risk factors will be described that are associated with mortality in SSc patients. The review addresses the impact of recent developments on screening, diagnosis and risk stratification as well as the need for further research where data are lacking.

  7. Some Aspects of Balance Disorder in Patients with Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Adnan Burina

    2008-02-01

    Full Text Available The aim of this study was to analyze: frequency of balance disorder (vertigo and disequilibrium, frequency of abnormalities in auditory evoked potentials (AEP and magnetic resonance imaging (MRI changes of the brain in multiple sclerosis (MS patients with balance disorder, relation of patients disability status to balance disorder and relation of the changes in MRI of the brainstem to AEP abnormalities. It was analyzed 60 patients with relapsing-remitting form of MS. Two groups of patients were made consecutively under Expanded Disability Status Scale score (EDSS: A (EDSS <4,5 and B (EDSS >5,0. The study was retrospective-prospective. After the neurological exam AEP and MRI of the brain have been done. Balance disorder has been verified as initial symptom in 29 (48,4% and out of them disequilibrium experienced 24 (83,4% patients. During the relapses balance disorder experienced 48 (80% patients and in 37 (77,1% it was disequilibrium. Among them 33 (68,7% were with lower EDSS (<4,5 and 15 (31,3% with higher EDSS score (>5. There is no correlation between disability status and vertigo which means that vertigo is not more frequent in more disabled patients and vice-versa. The AEP were pathological in 57 (95% patients. Of all 29 patients with vertigo AEP were pathological in 28 (96,5% while in 31 patients without vertigo pathological AEP were in 29 (93,5% but it is not statistical significant. The most frequent characteristic of AEP changes were prolonged inter-peak latency III-V waves (48 patients or 80%. The plaque in brainstem visualized by MRI was found in 41 (71,8% of patients (38 or 92,6% of them had pathological AEP and in three patients AEP were normal. In group of patients with pathological AEP, 38 (66,6% of them had plaque in brainstem. In other three patients with normal AEP it was visualized plaque in brainstem. In the group of 29 patients with balance disorder, 20 (68,9% had plaque in brainstem as well as 21 (67,7% out of 31 patients

  8. Altered B lymphocyte homeostasis and functions in systemic sclerosis.

    Science.gov (United States)

    Forestier, Alexandra; Guerrier, Thomas; Jouvray, Mathieu; Giovannelli, Jonathan; Lefèvre, Guillaume; Sobanski, Vincent; Hauspie, Carine; Hachulla, Eric; Hatron, Pierre-Yves; Zéphir, Hélène; Vermersch, Patrick; Labalette, Myriam; Launay, David; Dubucquoi, Sylvain

    2018-03-01

    Beyond the production of autoantibodies, B-cells are thought to play a role in systemic sclerosis (SSc) by secreting proinflammatory/profibrotic cytokines. B-cells are a heterogeneous population with different subsets distinguished by their phenotypes and cytokine production. Data about B-cell subsets, cytokine production and intracellular pathways leading to this production are scarce in SSc. The aim of our study was to describe B-cell homeostasis, activation, proliferation, cytokine production in B-cells and serum and B-cell intracellular signaling pathways in SSc. We hypothezided that B-cell homeostasis and cytokine production were altered in SSc and could be explained by serum cytokine as well as by intracellular signaling pathway abnormalities. Forty SSc patients and 20 healthy controls (HC) were prospectively included. B-cell subsets were determined by flow cytometry using CD19, CD21, CD24, CD38, CD27, IgM and IgD. CD25, CD80, CD95, HLA-DR were used to assess B-cell activation. Intracellular production of IL-10 and IL-6 were assessed by flow cytometry after TLR9 and CD40 stimulation. IL-6, IL-10, Ki67, Bcl2 mRNA were quantified in B-cells. Cytokine production was also assessed in sera and supernatants of B-cell culture, using a multiplex approach. Signaling pathways were studied through phosphorylation of mTOR, ERK, STAT3, STAT5 using a flow cytometry approach. We found that SSc patients exhibited an altered peripheral blood B-cell subset distribution, with decreased memory B-cells but increased proportion of naive and CD21 Lo CD38 Lo B-cell subsets. We observed an increased expression of activation markers (CD80, CD95, HLA-DR) on some B-cell subsets, mainly the memory B-cells. Secretion of IL-6, BAFF and CXCL13 were increased in SSc sera. There was no correlation between the peripheral blood B-cell subsets and the serum concentrations of these cytokines. After stimulation, we observed a lower proportion of IL-10 and IL-6 producing B-cells in SSc. Finally, we

  9. Serum Levels of Tissue Inhibitors of Metalloproteinase 2 in Patients With Systemic Sclerosis With Duration More Than 2 Years: Correlation With Cardiac and Pulmonary Abnormalities

    Directory of Open Access Journals (Sweden)

    Amira Shahin

    2006-01-01

    with elevated TIMP-2 levels was significantly higher than dSSc patients with normal levels (P=.013. Four patients out of five with elevated TIMP-2 levels showed diastolic dysfunction (80%, compared to 2 out of 15 lSSc patients with normal levels (13.3%, with P=.014. Our research, though involving a small group of patients, points to the probable role of TIMP-2 in the development of pulmonary lesions in dSSc patients and cardiac lesions in lSSc patients with duration equal to or more than 2 years.

  10. Effects of Pilates exercises on sensory interaction, postural control and fatigue in patients with multiple sclerosis.

    Science.gov (United States)

    Soysal Tomruk, Melda; Uz, Muhammed Zahid; Kara, Bilge; İdiman, Egemen

    2016-05-01

    Decreased postural control, sensory integration deficits and fatigue are important problems that cause functional impairments in patients with multiple sclerosis (pwMS). To examine the effect of modified clinical Pilates exercises on sensory interaction and balance, postural control and fatigue in pwMS. Eleven patients with multiple sclerosis and 12 healthy matched controls were recruited in this study. Limits of stability and postural stability tests were used to evaluate postural control by Biodex Balance System and sensory interaction assessed. Fatigue was assessed by Modified Fatigue Impact Scale. Pilates exercises were applied two times a week for 10 weeks and measurements were repeated to pwMS after exercise training. Postural control and fatigue (except psychosocial parameter) of pwMS were significantly worser than healthy controls (pPilates training (ppilates exercises (p>0.05). Ten-week Pilates training is effective to improve sensory interaction and to decrease fatigue. Pilates exercises can be applied safely in ambulatory pwMS for enhance sensory interaction and balance and combat fatigue. More investigations are needed. Copyright © 2016 Elsevier B.V. All rights reserved.

  11. In systemic sclerosis, anxiety and depression assessed by hospital anxiety depression scale are independently associated with disability and psychological factors.

    OpenAIRE

    Del Rosso, A; Mikhaylova, S; Baccini, M; Lupi, I; Matucci Cerinic, M; Maddali Bongi, S

    2013-01-01

    Background. Anxious and depressive symptoms are frequent in Systemic Sclerosis (SSc). Our objective is to assess their prevalence and association with district and global disability and psychological variables. Methods. 119?SSc patients were assessed by Hospital Anxiety Depression Scale (HADS). Clinical depression and anxiety were defined for HADS score cutoff ?8. Patients were assessed for psychological symptoms (RSES, COPE-NIV), hand (HAMIS, CHFDS, fist closure, and hand opening) and face d...

  12. Alemtuzumab in the treatment of multiple sclerosis: patient selection and special considerations

    Directory of Open Access Journals (Sweden)

    Dörr J

    2016-10-01

    Full Text Available Jan Dörr,1,2 Karl Baum1 1Multiple Sclerosis Center, Neurology Department, Klinik Hennigsdorf, Hennigsdorf, 2NeuroCure Clinical Research Center, Charité – Universitätsmedizin Berlin, Berlin, Germany Abstract: Multiple sclerosis (MS is among the most common chronic inflammatory diseases of the central nervous system. Although not curable, the constantly increasing armamentarium of disease-modifying drugs now allows control of disease activity in many patients. The humanized monoclonal antibody alemtuzumab is a powerful drug licensed for the treatment of MS. Upon binding to the CD52 surface protein on CD4+ and CD8+ T cells, B cells, and monocytes, circulating CD52+ cells are eliminated via antibody- and complement-mediated lysis, and a less autoreactive adaptive immune system is reconstituted. The efficacy of alemtuzumab in terms of both clinical and magnetic resonance imaging outcomes has been demonstrated in several phase II/III trials including long-term extensions and follow-up studies. Treatment response to alemtuzumab is strongest as long as active inflammation is the predominant pathophysiological feature, and it is becoming less efficacious in neurodegeneration-dominated later stages of the disease. Thus, the optimal placement of alemtuzumab within treatment algorithms of MS is crucial. The impressive efficacy of alemtuzumab is counteracted by a less favorable safety profile. Besides usually manageable infusion-associated side effects, development of secondary autoimmunity in almost half of treated patients is the most disconcerting risk of alemtuzumab. The high frequency, the delayed occurrence, and the potentially severe course of secondary autoimmune diseases require awareness and a close long-term monitoring of patients treated with alemtuzumab. Biomarkers that would allow prediction of treatment response to alemtuzumab on the one hand and identification of patients at risk for the development of secondary autoimmune diseases on

  13. Application of botulinum toxin to treat sialorrhea in amyotrophic lateral sclerosis patients: a literature review.

    Science.gov (United States)

    Oliveira, Ademar Francisco de; Silva, Gêssyca Adryene de Menezes; Almeida, Débora Milenna Xavier

    2016-01-01

    Amyotrophic lateral sclerosis is a progressive and fatal neurodegenerative disease characterized by the degeneration of motor neurons, which are the central nervous system cells that control voluntary muscle movements. The excessive salivation (sialorrhea) is present in approximately 50% of amyotrophic lateral sclerosis cases. Thus, some alternative therapeutic methods are sought, such as anticholinergic drugs and surgery. Recently the use of botulinum toxin applied at a midpoint of the salivary glands, often guided by ultrasound, have demonstrated positive results. The objective was to review the literature to demonstrate an alternative method to treatments of sialorrhea in patients with amyotrophic lateral sclerosis. In recent studies, the efficacy of botulinum toxin is confirmed, although new applications are required. Since the side effects are negligible, this is an alternative to treat amyotrophic lateral sclerosis, and other patients with diseases that present sialorrhea. RESUMO Esclerose lateral amiotrófica é uma doença neurodegenerativa progressiva e fatal, caracterizada pela degeneração dos neurônios motores, as células do sistema nervoso central que controlam os movimentos voluntários dos músculos. A salivação excessiva (sialorreia) está presente em cerca de 50% dos casos de esclerose lateral amiotrófica. Dessa forma, surgem medidas terapêuticas alternativas como drogas anticolinérgicas e cirurgia, e recentemente, o uso da toxina botulínica, aplicada em um ponto central das glândulas salivares, muitas vezes guiado por ultrassonografia, demostrou resultados positivos. Objetivou-se revisar a literatura no intuito de demonstrar um método alternativo aos tratamentos de sialorreia em pacientes com esclerose lateral amiotrófica. Em estudos recentes, a eficácia do tratamento com toxina botulínica foi confirmada e, mesmo requerendo novas aplicações, os efeitos colaterais são ínfimos. Ela surge então como alternativa não só ao

  14. Prolonged Barium-Impaction Ileus in Two Lung Transplant Recipients With Systemic Sclerosis: Case Report.

    Science.gov (United States)

    Tokman, S; Hays, S R; Leard, L E; Bush, E L; Kukreja, J; Kleinhenz, M E; Golden, J A; Singer, J P

    2015-12-01

    Lung transplantation can be a life-saving measure for people with end-stage lung disease from systemic sclerosis. However, outcomes of lung transplantation may be compromised by gastrointestinal manifestations of systemic sclerosis, which can involve any part of the gastrointestinal tract. Esophageal and gastric disease can be managed by enteral feeding with the use of a gastrojejunal feeding tube. In this report, we describe the clinical courses of 2 lung transplant recipients with systemic sclerosis who experienced severe and prolonged barium-impaction ileus after insertion of a percutaneous gastrojejunal feeding tube. Copyright © 2015 Elsevier Inc. All rights reserved.

  15. The effects of one period of exercise walking program on textured surface on balance in Multiple sclerosis patients

    Directory of Open Access Journals (Sweden)

    Asadi Ghaleni M

    2015-04-01

    Full Text Available Abstract Background: Multiple sclerosis (MS is a chronic progressive disease of the central nervous system with signs and symptoms such as fatigue and balance that are disable. The purpose of this study was to assess the effect of training which instructions focus of attention on postural sway of multiple sclerosis patients. Materials and Methods: The present quasi-experimental study used a pretest-posttest design. The subjects with the age of 27-42, expanded disability status scale 1-4 and were purposefully and voluntarily selected and randomly allocated to the experimental and control groups. Training program for groups was carried out in 3 weeks, five sessions per week, and each session lasted about one hour. Berg Balance Scale was used to measure balance. The data was analyzed by using analysis of independent and dependent sample t-test at a significance level of p≤0.05. Results: The results showed that significant improvements observed in balance (p≤0/05. Also significant differences observed between post hoc scores in the experimental and control groups (p≥0/05. Conclusion: According to research findings, the exercise walking program on textured surface resulted in considerable improvements in balance in multiple sclerosis. Also, the respective specialists can use these exercies as a complementary treatment along with the drug therapy for patiens with multiple sclerosis.

  16. ALS (Amyotrophic Lateral Sclerosis)

    Science.gov (United States)

    ... here Home » Disorders » Patient & Caregiver Education » Fact Sheets Amyotrophic Lateral Sclerosis (ALS) Fact Sheet What is amyotrophic lateral sclerosis? Who ... Where can I get more information? What is amyotrophic lateral sclerosis? Amyotrophic lateral sclerosis (ALS) is a group of ...

  17. Cardiac tamponade preceding skin involvement in systemic sclerosis

    Directory of Open Access Journals (Sweden)

    L. Bozzola

    2011-09-01

    Full Text Available The frequency of pericardial involvement in Systemic Sclerosis (SSc is high on autoptic or echocardiographic studies, but the clinical recognition of pericarditis with or without effusion is rare. We describe a case of a 71-year-old female with no previous history of heart disease, who presented with a large pericardial effusion and tamponade that required pericardial drain. She had suffered from Raynaud’s phenomenon since 25 years. Six weeks after hospital discharge she complained of skin hardening on left leg. Pericardial tamponade is a very rare manifestation of SSc and occurs both early or late in the course of the disease, but in our case it preceded the recognition of scleroderma. We have only identified two other cases of pericardial effusion preceding cutaneous involvement in scleroderma.

  18. Evaluation of the extent of ground-glass opacity on high-resolution CT in patients with interstitial pneumonia associated with systemic sclerosis: Comparison between quantitative and qualitative analysis

    International Nuclear Information System (INIS)

    Yabuuchi, H.; Matsuo, Y.; Tsukamoto, H.; Horiuchi, T.; Sunami, S.; Kamitani, T.; Jinnouchi, M.; Nagao, M.; Akashi, K.; Honda, H.

    2014-01-01

    Aim: To verify whether quantitative analysis of the extent of ground-glass opacity (GGO) on high-resolution computed tomography (HRCT) could show a stronger correlation with the therapeutic response of interstitial pneumonia (IP) associated with systemic sclerosis (SSc) compared with qualitative analysis. Materials and methods: Seventeen patients with IP associated with SSc received autologous peripheral blood stem cell transplantation (auto-PBSCT) and were followed up using HRCT and pulmonary function tests. Two thoracic radiologists assessed the extent of GGO on HRCT using a workstation. Therapeutic effect was assessed using the change of vital capacity (VC) and diffusing capacity of the lung for carbon monoxide (DLco) before and 12 months after PBSCT. Interobserver agreement was assessed using Spearman's rank correlation coefficient and the Bland–Altman method. Correlation with the therapeutic response between quantitative and qualitative analysis was assessed with Pearson's correlation coefficients. Results: Spearman's rank correlation coefficient showed good agreement, but Bland–Altman plots showed that proportional error could be suspected. Quantitative analysis showed stronger correlation than the qualitative analysis based on the relationships between the change in extent of GGO and VC, and change in extent of GGO and DLco. Conclusion: Quantitative analysis of the change in extent of GGO showed stronger correlation with the therapeutic response of IP with SSc after auto-PBSCT than with the qualitative analysis. - Highlights: • Quantitative analysis of GGO in IP showed strong correlation with therapeutic effect. • Qualitative analysis might be limited by interobserver variance. • Other parameters including reticular opacities remain in a future investigation

  19. Hippocampal Sclerosis in Older Patients: Practical Examples and Guidance With a Focus on Cerebral Age-Related TDP-43 With Sclerosis.

    Science.gov (United States)

    Cykowski, Matthew D; Powell, Suzanne Z; Schulz, Paul E; Takei, Hidehiro; Rivera, Andreana L; Jackson, Robert E; Roman, Gustavo; Jicha, Gregory A; Nelson, Peter T

    2017-08-01

    - Autopsy studies of the older population (≥65 years of age), and particularly of the "oldest-old" (≥85 years of age), have identified a significant proportion (∼20%) of cognitively impaired patients in which hippocampal sclerosis is the major substrate of an amnestic syndrome. Hippocampal sclerosis may also be comorbid with frontotemporal lobar degeneration, Alzheimer disease, and Lewy body disease. Until recently, the terms hippocampal sclerosis of aging or hippocampal sclerosis dementia were applied in this context. Recent discoveries have prompted a conceptual expansion of hippocampal sclerosis of aging because (1) cellular inclusions of TAR DNA-binding protein 43 kDa (TDP-43) are frequent; (2) TDP-43 pathology may be found outside hippocampus; and (3) brain arteriolosclerosis is a common, possibly pathogenic, component. - To aid pathologists with recent recommendations for diagnoses of common neuropathologies in older persons, particularly hippocampal sclerosis, and highlight the recent shift in diagnostic terminology from HS-aging to cerebral age-related TDP-43 with sclerosis (CARTS). - Peer-reviewed literature and 5 autopsy examples that illustrate common age-related neuropathologies, including CARTS, and emphasize the importance of distinguishing CARTS from late-onset frontotemporal lobar degeneration with TDP-43 pathology and from advanced Alzheimer disease with TDP-43 pathology. - In advanced old age, the substrates of cognitive impairment are often multifactorial. This article demonstrates common and frequently comorbid neuropathologic substrates of cognitive impairment in the older population, including CARTS, to aid those practicing in this area of pathology.

  20. T regulatory cells are markers of disease activity in multiple sclerosis patients.

    Directory of Open Access Journals (Sweden)

    Dacia Dalla Libera

    Full Text Available FoxP3⁺ Treg cells are believed to play a role in the occurrence of autoimmunity and in the determination of clinical recurrences. Contradictory reports are, however, available describing frequency and function of Treg cells during autoimmune diseases. We examined, by both polychromatic flow cytometry, and real-time RT-PCR, several Treg markers in peripheral blood mononuclear cells from patients with multiple sclerosis (MS, an autoimmune disease affecting the central nervous system. We found that Tregs, as defined by CD25, CD39, FoxP3, CTLA4, and GITR expression, were significantly decreased in stable MS patients as compared to healthy donors, but, surprisingly, restored to normal levels during an acute clinical attack. We conclude that Treg cells are not involved in causing clinical relapses, but rather react to inflammation in the attempt to restore homeostasis.

  1. [SCLEROSIS: LOCAL AND GENERAL PATTERNS OF DEVELOPMENT].

    Science.gov (United States)

    Kats, Ya A; Parkhonyuk, E V

    2015-01-01

    Sclerosis is a final substrate and outcome of structural lesions of different organs and tissues in various pathological conditions, such as hypertensive disease, coronaty heart disease, chronic obstructive pulmonary disease, systemic lupus erythematosus, rheumatoid arthritis, systemic scleroderma, etc. Not infrequently it as a determinant of severity and unfavourable outcome of the disease. Elucidation of general patterns of the development of sclerosis requires an integrated approach to the systemic analysis of clinical, genetic, biochemical, and morphological characteristics whereas a local analysis reveals peculiarities of formation of sclerosis in individual patients. Such combination permits to use methods of predictive-preventive personified medicine for planning the treatment of sclerosis.

  2. Trends in survival and cause of death in Danish patients with multiple sclerosis

    DEFF Research Database (Denmark)

    Brønnum-Hansen, Henrik; Koch-Henriksen, Nils; Stenager, Egon

    2004-01-01

    The Danish Multiple Sclerosis Registry contains information about all Danish patients in whom multiple sclerosis has been diagnosed since 1948. The purpose of this study was to analyse trends in survival and causes of death of these patients and to compare them with those of the general population....... The study comprised all patients with onset in the period 1949-1996. All case records were validated and classified according to standardized diagnostic criteria. Data on emigration and death were obtained by record linkage to official registers. The end of follow-up was 1 January 2000 for emigration...... and death, and 1 January 1999 for cause-specific deaths. Standardized mortality ratios and excess death rates were calculated for various causes of death and periods after multiple sclerosis onset, and time trends in survival probability were analysed by Cox regression. The study comprised 9881 patients...

  3. Comparison of the expression levels of Fas and Apaf-1 genes in systemic sclerosis dermal fibroblasts

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    Majid Abed Khojasteh

    2016-07-01

    Full Text Available Background: Systemic sclerosis (SSc is an autoimmune rheumatic connective tissue disease. In normal wound healing process, fibroblasts are activated, proliferated and involved in tissue repair, and then removed by apoptosis. In systemic sclerosis, patient’s fibrosis occurs when fibroblasts become resistant to apoptosis and secrete a large amount of collagen and other extracellular matrixes. As the primary causes the disease are very complex and often unknown, it is necessary to consider or target the secondary causes of disease, such as the unresponsiveness of activated fibroblasts to apoptosis as the major factor in the creation and deployment of illness. In this study, we examined the expression levels of two key pro-apoptotic genes, Fas and Apaf-1, which are respectively involved in external and internal pathway of apoptosis. Methods: In a case-control study skin biopsy samples were obtained from 19 patients with diffuse SSc, and 16 healthy controls. Dermal fibroblasts were cultured and total RNA was isolated from cell populations using High Pure RNA Isolation Kit (Roche Applied Science, Mannheim, Germany, followed by cDNA synthesis using RevertAid First Strand cDNA Synthesis Kit (Thermo Fisher Scientific Inc., Massachusetts, USA. Real-time PCR was performed using SYBRGreen gene expression master mix (Takara Shuzo, Co., Ltd, Shiga, Japan and specific primers for Fas and Apaf-1. Real-time data were analyzed using the (2-ΔCT×1000 method. Statistical analysis was accomplished by using the SPSS software, v22 (IBM, Armonk, NY, USA. The P value less than 0.05 were recognized as a significant threshold. All data are represented as the mean ± SEM. Results: Our results showed no significant difference in Fas (P=0.8 and Apaf-1 (P=0.17 mRNA expression levels between skin fibroblasts of systemic sclerosis patients and healthy controls. Conclusion: In this study we observed no significant change in Apaf-1 and Fas mRNA levels in systemic sclerosis

  4. Expression of anti-heterogenous nuclear ribonucleoprotein (anti-hnRNP in limited systemic sclerosis patients: Relation to radiographic findings of the hand

    Directory of Open Access Journals (Sweden)

    Nihal Fathi

    2018-01-01

    Conclusion: Joint affection in SSc is more frequent than expected. Anti-hnRNP A1 and anti hnRNP A2 antigens may be useful markers for SSc patient although no significant relation was found with radiologic findings.

  5. The impact of self-perceived limitations, stigma and sense of coherence on quality of life in multiple sclerosis patients : results of a cross-sectional study

    NARCIS (Netherlands)

    Broersma, Feddrik; Oeseburg, Barth; Dijkstra, Jacob; Wynia, Klaske

    2018-01-01

    OBJECTIVE: To examine the impact of perceived limitations, stigma and sense of coherence on quality of life in multiple sclerosis patients. DESIGN: Cross-sectional survey. SETTING: Department of Neurology, University Medical Center Groningen, the Netherlands. SUBJECTS: Multiple sclerosis patients.

  6. An observational cohort study of patients with newly diagnosed digital ulcer disease secondary to systemic sclerosis registered in the EUSTAR database.

    Science.gov (United States)

    Brand, Monika; Hollaender, Rebecca; Rosenberg, Daniel; Scott, Martin; Hunsche, Elke; Tyndall, Alan; Denaro, Valentina; Carreira, Patricia; Varju, Cecilia; Gabrielli, Barbara; Zingarelli, Stefania; Caramaschi, Paola; Simic-Pasalic, Katarina; Müller-Ladner, Ulf; Vasile, Massimiliano; Mihai, Carina; Rosato, Edoardo; Vacca, Alessandra; Zenone, Thierry; Mohamed, Walid A; Ancuta, Codrina; Zampogna, Giuseppe; Rednic, Simona; Jabaar, Nadia; Belloli, Laura; Pozzi, Maria R; Foti, Rosario; Walker, Ulrich A

    2015-01-01

    This study describes clinical characteristics, prognostic factors, and quality of life in patients with newly diagnosed (incident) digital ulcers (DU). Observational cohort study of 189 consecutive SSc patients with incident DU diagnosis identified from the EUSTAR database (22 centres in 10 countries). Data were collected from medical charts and during one prospective visit between 01/2004 and 09/2010. Median age at DU diagnosis was 51 years, majority of patients were female (88%), and limited cutaneous SSc was the most common subtype (61%). At incident DU diagnosis, 41% of patients had one DU and 59% had ≥2 DU; at the prospective visit 52% had DU. Pulmonary arterial hypertension (PAH) and multiple DU at diagnosis were associated with presence of any DU at the prospective visit (odds ratios: 4.34 and 1.32). During the observation period (median follow-up was 2 years) 127 patients had ≥1 hospitalisation. The event rate of new DU per person-year was 0.66, of DU-associated complications was 0.10, and of surgical or diagnostic procedures was 0.12. At the prospective visit, patients with ≥1 DU reported impairment in daily activities by 57%, those with 0 DU by 37%. The mean difference between patients with or without DU in the SF-36 physical component was 2.2, and in the mental component 1.4. DU patients were not routinely prescribed endothelin receptor antagonists or prostanoids. This real world cohort demonstrates that DU require hospital admission, and impair daily activity. PAH and multiple DU at diagnosis were associated with future occurrence of DU.

  7. Can multiple sclerosis as a cognitive disorder influence patients? dreams?

    OpenAIRE

    Moghadasi, Abdorreza Naser; Owji, Mahsa

    2013-01-01

    Dream should be considered as a kind of cognitive ability that is formed parallel to other cognitive capabilities like language. On the other hand, multiple sclerosis (MS) is a complex disease that can involve different aspects of our cognition. Therefore, MS may influence patients’ dreams. In fact, we do not know what the importance of dream is in MS, but further studies may introduce dream and dreaming as a sign of improvement or progression in MS disease.Multiple sclerosis (MS) is a diseas...

  8. ILAE type 3 hippocampal sclerosis in patients with anti-GAD-related epilepsy.

    Science.gov (United States)

    Glover, Robert L; DeNiro, Lauren V; Lasala, Patrick A; Weidenheim, Karen M; Graber, Jerome J; Boro, Alexis

    2015-08-01

    To describe the neuropathologic findings and clinical course of 2 patients who underwent temporal lobectomy for medically refractive epilepsy and were later found to have high anti-glutamic acid decarboxylase (GAD) concentrations. Small case series. Neuropathologic examination of both patients revealed International League Against Epilepsy (ILAE) type 3 hippocampal sclerosis. Following surgery, both developed signs and symptoms of stiff person syndrome and later cerebellar ataxia. Laboratory studies demonstrated high concentrations of anti-GAD antibodies in both patients. These cases suggest that ILAE type 3 hippocampal sclerosis may be immunologically related to and may exist as part of a broader anti-GAD-related neurologic syndrome in some instances.

  9. HLA class II polymorphism in Saudi patients with multiple sclerosis.

    Science.gov (United States)

    Al Jumah, M; Kojan, S; Al Shehri, A M; Al Balwi, M; Al Abdulkarim, I; Masuadi, E M; Alhaidan, Y; Alabdulrahman, A; Fakhoury, H M; Hajeer, A H

    2018-01-01

    Several studies have investigated the association of different HLA antigens with multiple sclerosis (MS). However, only few studies have considered the association of high-resolution HLA type and MS with none yet from Saudi Arabia. The aim of this study was to investigate the association of HLA class II alleles with MS in the Saudi population. We used next-generation sequencing to investigate HLA association with MS. This study was conducted at King Abdulaziz Medical City in Riyadh, Saudi Arabia. We found that several HLA-DRB1 and DQB1 alleles were associated with MS. These alleles included HLA-DRB1*15:01 (odds ratio [OR]: 3.01; 95%, confidence interval [CI]: 1.68-5.54; P = .0001), HLA-DQB1*02:01 (OR: 1.76; 95% CI: 1.20-2.58; P = .0022), HLA-DQB1*06:02 (OR: 3.52; 95% CI: 1.87-6.86; P HLA-DQB1*06:03 (OR: 2.42; 95% CI: 1.16-5.25; P = 0.01). Interestingly, HLA-DRB1*15:01 was associated with increased risk of previous relapses. In addition, HLA-DRB1*15:01 and HLA-DQB1*06:02 were found to be associated with lower vitamin D levels. This study provides insights on the association of different HLA alleles with clinical characteristics and outcome of MS among Saudis. These insights can have future implications for the clinical management of MS based on the patient genetic profile. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  10. CHANGES IN TUMOR NECROSIS FACTOR ALFA DURING TREATMENT OF PATIENTS WITH MULTIPLE SCLEROSIS BY TRANSIMMUNIZATION METHOD

    Directory of Open Access Journals (Sweden)

    A. V. Kil'dyushevskiy

    2016-01-01

    Full Text Available Background: Despite the availability of a  large number of treatments for multiple sclerosis with various targets, these treatments are not always effective. According to the literature, experimental studies have shown a  significant decrease in tumor necrosis factor alfa (TNF-α with the use of extracorporeal photochemotherapy. Aim: To assess changes in TNF-α in patients with multiple sclerosis during treatment with transimmunization. Materials and methods: The study recruited 13 adult patients with multiple sclerosis. Serum TNF-α was measured by immunochemiluminescence analysis (IMMULITE 1000, Siemens. The patients were treated by transimmunization, i.e. a  modified photopheresis. Two hours before the procedure, Ammifurin (8-methoxypsoralene was administered to all the patients, then their mononuclear cells were isolated under PBSC protocol with Haemonetics MCS+ cell separator. Thereafter, mononuclear cells were irradiated with ultraviolet for 90  minutes and incubated for 20 hours at 37 °С. The next day the cells were re-infused to the patients. The procedure was performed 2  times per week for 6  months, then once per 4  months. Results: Before transimmunization, mean TNF-α level in adult patients with multiple sclerosis was 9.958±0.812  pg/mL (normal, below 8.1 pg/mL. After transimmunization, its level was 6.992±0.367  pg/mL (р<0.05. Conclusion: Ultraviolet irradiation of peripheral blood monocytes with their subsequent incubation (transimmunization led to a 30% decrease of serum TNF-α in patients with multiple sclerosis. This indicates a suppressive effect of transimmunization on TNF-α. Hence, in patients with multiple sclerosis transimmunization exerts an anti-inflammatory effect.

  11. Clinical attention and assistance profile of patients with amyotrophic lateral sclerosis

    Directory of Open Access Journals (Sweden)

    Núbia Maria Freire Vieira Lima

    2011-04-01

    Full Text Available OBJECTIVE: To evaluate the functional status of amyotrophic lateral sclerosis (ALS patients diagnosed at this institution; to analyze hospital and palliative care; to identify patients' knowledge about home care and supportive resources. METHOD: Twenty-nine patients were evaluated on the ALSFRS-R scale and two semi-structured questionnaires, at the start of the study and every four months thereafter for 1 year. RESULTS: ALSFRS-R score was 30.1±11.5 initially and 24.4±10.5 at 1 year. There was an increase in use of physiotherapeutic care and adaptive aids. The primary caregivers were spouses (55.2%, parents/children/cousins (20.7%, friends (10.3% and private nurses (3.5%; 10.3% of patients had no caregivers. Basic ALS patient care was provided by the public health system. CONCLUSION: ALS patients' multidisciplinary care was provided by UNICAMP hospital and its outpatient clinics and, in some patients, complemented by a private health plan or personal expenditure. Few ALS patients were aware of the possibility of home nursing. It is necessary to implement national and regional public home nursing in addition to multidisciplinary specialized care of ALS patients.

  12. The clinical significance of antibody determination to cyclic citrullinated peptides in systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Stamenković Bojana

    2012-01-01

    Full Text Available Introduction. Anti-citrullinated peptides antibodies (ACPA are present in 80% of sera of rheumatoid arthritis (RA patients with high specificity for diagnosis and prediction for the development of early erosive arthritis. A few studies have reported a low frequency ACPA in systemic sclerosis (SSc patients with the presence of arthritis. Objective. The aim of our study was to determine the frequency of ACPA in systemic sclerosis (SSc patients, their correlation with clinical manifestations and radiographic features. Methods. The study included 82 patients with SSc, mean age 54.4 years, 59 with the limited (lSSc and 23 with the diffuse (dSSc form of the disease. The control group included 28 healthy age and sex matched subjects. ACPA and rheumatoid factor (RF were determined in all SSc patients and healthy subjects in whom standard radiography of hands and wrists was also done. Results. The presence of ACPA was detected in 11 (13.4% of SSc patients. Their level was not increased in any of the controls. Positive RF was found in 15.9% of SSc patients. Arthritis was present in 17.1%, as well as marginal bone erosions. There was a statistically significant association between positive ACPA and arthritis (p<0.0001 and positive ACPA and marginal bone erosions (p=0.0002. Conclusion. The research confirmed the correlation between ACPA with clinical signs of arthritis and radiographic damage of hand joints. ACPA is a useful diagnostic marker in the identification of SSc patients with arthritis and anatomic bone damage enabling the use of adequate therapy in order to prevent joint damage and poor quality of life.

  13. Overlap between systemic sclerosis and rheumatoid arthritis: a distinct clinical entity?

    Directory of Open Access Journals (Sweden)

    Alex Magno Coelho Horimoto

    Full Text Available ABSTRACT Introduction: Systemic sclerosis (SSc is an autoimmune disease of the connective tissue characterized by the triad of vascular injury, autoimmunity (cellular and humoral and tissue fibrosis. It is estimated that musculoskeletal pain is a common complaint of patients with SSc, ranging from 40 to 80%, and mainly in patients with early diffuse disease. Arthritis, clinically observed, may be a feature seen in the presentation of SSc, often leading to early diagnostic errors with rheumatoid arthritis (RA. In the course of the disease, arthritis is observed in 24–97% of patients with SSc. Objectives: To correlate the occurrence or nonoccurrence of arthritis in patients with SSc of the Midwest region of Brazil with possible distinct clinical and laboratory manifestations observed in three groups of patients. To report the frequency of true association between systemic sclerosis and rheumatoid arthritis in patients with clinically and radiologically observed synovitis. Methods: Sixty-one SSc patients were subsequently assessed every 3 months within 1 year, in order to clinically observe the occurrence of synovitis and its patterns of progression. Patients were divided into 3 groups: 41 patients with SSc without arthritis, 16 SSc patients with arthritis and 4 patients with overlap of SSc and RA. All patients underwent a radiological examination of the hands at the end of the study. Results: Among all patients evaluated, we found a female predominance (98.7%, mean age of 50.94 years, white color (49.2%, limited form of the disease (47.6%, time of diagnosis between 5 and 10 years (47.6% and duration of the disease of 8.30 years. Among all patients, 14 (22.9% had positive rheumatoid factor (RF, while among those with positive RF, only 10 patients had arthritis during one-year follow-up. The antibody anticitrulline (anti-CCP test was performed in 24 patients, being positive in 4 of them (16.7%, with positivity being observed only in patients with

  14. Overlap between systemic sclerosis and rheumatoid arthritis: a distinct clinical entity?

    Science.gov (United States)

    Horimoto, Alex Magno Coelho; da Costa, Izaias Pereira

    2016-01-01

    Systemic sclerosis (SSc) is an autoimmune disease of the connective tissue characterized by the triad of vascular injury, autoimmunity (cellular and humoral) and tissue fibrosis. It is estimated that musculoskeletal pain is a common complaint of patients with SSc, ranging from 40 to 80%, and mainly in patients with early diffuse disease. Arthritis, clinically observed, may be a feature seen in the presentation of SSc, often leading to early diagnostic errors with rheumatoid arthritis (RA). In the course of the disease, arthritis is observed in 24-97% of patients with SSc. To correlate the occurrence or nonoccurrence of arthritis in patients with SSc of the Midwest region of Brazil with possible distinct clinical and laboratory manifestations observed in three groups of patients. To report the frequency of true association between systemic sclerosis and rheumatoid arthritis in patients with clinically and radiologically observed synovitis. Sixty-one SSc patients were subsequently assessed every 3 months within 1 year, in order to clinically observe the occurrence of synovitis and its patterns of progression. Patients were divided into 3 groups: 41 patients with SSc without arthritis, 16 SSc patients with arthritis and 4 patients with overlap of SSc and RA. All patients underwent a radiological examination of the hands at the end of the study. Among all patients evaluated, we found a female predominance (98.7%), mean age of 50.94 years, white color (49.2%), limited form of the disease (47.6%), time of diagnosis between 5 and 10 years (47.6%) and duration of the disease of 8.30 years. Among all patients, 14 (22.9%) had positive rheumatoid factor (RF), while among those with positive RF, only 10 patients had arthritis during one-year follow-up. The antibody anticitrulline (anti-CCP) test was performed in 24 patients, being positive in 4 of them (16.7%), with positivity being observed only in patients with SSc/RA overlap. Comparing the clinical manifestations among the

  15. [Overlap between systemic sclerosis and rheumatoid arthritis: a distinct clinical entity?

    Science.gov (United States)

    Horimoto, Alex Magno Coelho; Costa, Izaias Pereira da

    2015-03-04

    Systemic sclerosis (SSc) is an autoimmune disease of the connective tissue characterized by the triad of vascular injury, autoimmunity (cellular and humoral) and tissue fibrosis. It is estimated that musculoskeletal pain is a common complaint of patients with SSc, ranging from 40 to 80%, and mainly in patients with early diffuse disease. Arthritis, clinically observed, may be a feature seen in the presentation of SSc, often leading to early diagnostic errors with rheumatoid arthritis (RA). In the course of the disease, arthritis is observed in 24 to 97% of patients with SSc. To correlate the occurrence or nonoccurrence of arthritis in patients with SSc of the Midwest region of Brazil with possible distinct clinical and laboratory manifestations observed in three groups of patients. To report the frequency of true association between systemic sclerosis and rheumatoid arthritis in patients with clinically and radiologically observed synovitis. Sixty-one SSc patients were subsequently assessed every 3 months within 1 year, in order to clinically observe the occurrence of synovitis and its patterns of progression. Patients were divided into 3 groups: 41 patients with SSc without arthritis, 16 SSc patients with arthritis and 4 patients with overlap of SSc and RA. All patients underwent a radiological examination of the hands at the end of the study. Among all patients evaluated, we found a female predominance (98.7%), mean age of 50.94 years, white color (49.2%), limited form of the disease (47.6%), time of diagnosis between 5 to 10 years (47.6%) and duration of the disease of 8.30 years. Among all patients, 14 (22.9%) had positive rheumatoid factor (RF), while among those with positive RF, only 10 patients had arthritis during one-year follow-up. The antibody anticitrulline (anti-CCP) test was performed in 24 patients, being positive in 4 of them (16.7%), with positivity being observed only in patients with SSc/RA overlap. Comparing the clinical manifestations among

  16. Multiple sclerosis

    International Nuclear Information System (INIS)

    Grunwald, I.Q.; Kuehn, A.L.; Backens, M.; Papanagiotou, P.; Shariat, K.; Kostopoulos, P.

    2008-01-01

    Multiple sclerosis is the most common chronic inflammatory disease of myelin with interspersed lesions in the white matter of the central nervous system. Magnetic resonance imaging (MRI) plays a key role in the diagnosis and monitoring of white matter diseases. This article focuses on key findings in multiple sclerosis as detected by MRI. (orig.) [de

  17. Fatigued patients with multiple sclerosis can be discriminated from healthy controls by the recordings of a newly developed measurement system (FAMOS)

    DEFF Research Database (Denmark)

    Yu, Fei; Bilberg, Arne; Dalgas, Ulrik

    2013-01-01

    during the execution of functional (36 m walk test, 5- and 50-repetition sit-to-stand test) and cognitive (short-term memory tests) tests. Furthermore, oxygen saturation (SPO(2)) was measured during the functional and cognitive tests and during rest periods between these tests. RESULTS: Recordings from...... FAMOS indicate that fatigued MS patients have reduced standard deviation (SD) of the heart rate (HR) during the short-term memory test, reduced high frequency (HF) component power spectrum (representing parasympathetic activation) at rest after walk test, and higher ratio of low frequency (LF) to HF (LF....../HF) during 50-repetition sit-to-stand test. CONCLUSIONS: FAMOS recordings can discriminate fatigued MS patients from healthy controls. The data indicate that fatigued MS patients have vagus nerve dysfunction during cognitive tests and disturbed sympathovagal balance during stressful physical tests. [Box: see...

  18. The endocannabinoid system and its therapeutic exploitation in multiple sclerosis : Clues for other neuroinflammatory diseases.

    NARCIS (Netherlands)

    Chiurchiù, V.; Stelt, van der M.; Centonze, D.; Maccarrone, M.

    2017-01-01

    Multiple sclerosis is the most common inflammatory demyelinating disease of the central nervous system, caused by an autoimmune response against myelin that eventually leads to progressive neurodegeneration and disability. Although the knowledge on its underlying neurobiological mechanisms has

  19. The use of serologic markers for collagen synthesis and degradation in systemic sclerosis

    DEFF Research Database (Denmark)

    Heickendorff, Lene; Zachariae, Hugh; Bjerring, Peter

    1995-01-01

    BACKGROUND: Systemic sclerosis is characterized by excessive accumulation of collagen in all involved organs. Serum markers of collagen synthesis and degradation, the aminoterminal propeptide of type III procollagen (PIIINP), the carboxyterminal propeptide of type I procollagen (PICP), and the cr...

  20. Cross-language measurement equivalence of the Center for Epidemiologic Studies Depression (CES-D) scale in systemic sclerosis: a comparison of Canadian and Dutch patients

    NARCIS (Netherlands)

    Kwakkenbos, C.M.C.; Arthurs, E.; Hoogen, F.H.J. van den; Hudson, M.; Lankveld, W.G. van; Baron, M.; Ende, C.H.M. van den; Thombs, B.D.; et al.,

    2013-01-01

    OBJECTIVES: Increasingly, medical research involves patients who complete outcomes in different languages. This occurs in countries with more than one common language, such as Canada (French/English) or the United States (Spanish/English), as well as in international multi-centre collaborations,

  1. Diagnosis and treatment of latent tuberculosis in patients with multiple sclerosis, expert consensus. On behalf of the Colombian Association of Neurology, Committee of Multiple Sclerosis.

    Science.gov (United States)

    Navas, Carlos; Torres-Duque, Carlos A; Munoz-Ceron, Joe; Álvarez, Carlos; García, Juan R; Zarco, Luis; Vélez, Lázaro A; Awad, Carlos; Castro, Carlos Alberto

    2018-01-01

    Multiple sclerosis is an inflammatory and neurodegenerative demyelinating disease. Current treatment of multiple sclerosis focuses on the use of immunomodulatory, immunosuppressant, and selective immunosuppressant agents. Some of these medications may result in high risk of opportunistic infections including tuberculosis. The purpose of this study was to obtain consensus from a panel of neurologists, pulmonologists, infectious disease specialists, and epidemiology experts regarding the diagnosis, treatment, and monitoring of latent tuberculosis in patients with multiple sclerosis. A panel of experts in multiple sclerosis and tuberculosis was established. The methodological process was performed in three phases: definition of questions, answer using Delphi methodology, and the discussion of questions not agreed. Tuberculosis screening is suggested when multiple sclerosis drugs are prescribed. The recommended tests for latent tuberculosis are tuberculin and interferon gamma release test. When an anti-tuberculosis treatment is indicated, monitoring should be performed to determine liver enzyme values with consideration of age as well as comorbid conditions such as a history of alcoholism, age, obesity, concomitant hepatotoxic drugs, and history of liver disease. Latent tuberculosis should be considered in patients with multiple sclerosis who are going to be treated with immunomodulatory and immunosuppressant medications. Transaminase level monitoring is required on a periodic basis depending on clinical and laboratory characteristics. In addition to the liver impairment, other side effects should be considered when Isoniazid is prescribed.

  2. Erythrocyte membrane fatty acids in multiple sclerosis patients and ...

    African Journals Online (AJOL)

    The risk of developing multiple sclerosis (MS) is associated with increased dietary intake of saturated fatty acids. For many years it has been suspected that this disease might be associated with an imbalance between unsaturated and saturated fatty acids. We determined erythrocyte membrane fatty acids levels in Hot ...

  3. Disease progression in multiple sclerosis: combining physicians' and patients' perspectives?

    NARCIS (Netherlands)

    Kragt, J.J.; Nielsen, J.M.; van der Linden, F.A.H.; Polman, C.H.; Uitdehaag, B.M.J.

    2011-01-01

    Background: To assess disease progression in multiple sclerosis (MS) several outcome measures are available. The interrelation of changes on different scales has not been studied extensively and the concept of combining scales has only recently been introduced in MS. Objective: To explore combining

  4. Reduced brain functional reserve and altered functional connectivity in patients with multiple sclerosis.

    Science.gov (United States)

    Cader, Sarah; Cifelli, Alberto; Abu-Omar, Yasir; Palace, Jacqueline; Matthews, Paul M

    2006-02-01

    Cognitive dysfunction (affecting particularly attention and working memory) occurs early in patients with multiple sclerosis. Previous studies have focused on identifying potentially adaptive functional reorganization through recruitment of new brain regions that could limit expression of these deficits. However, lesion studies remind us that functional specializations in the brain make certain brain regions necessary for a given task. We therefore have asked whether altered functional interactions between regions normally recruited provide an alternative adaptive mechanism with multiple sclerosis pathology. We used a version of the n-back task to probe working memory in patients with early multiple sclerosis. We applied a functional connectivity analysis to test whether relationships between relative activations in different brain regions change in potentially adaptive ways with multiple sclerosis. We studied 21 patients with relapsing-remitting multiple sclerosis and 16 age- and sex-matched healthy controls with 3T functional MRI. The two groups performed equally well on the task. Task-related activations were found in similar regions for patients and controls. However, patients showed relatively reduced activation in the superior frontal and anterior cingulate gyri (P > 0.01). Patients also showed a variable, but generally substantially smaller increase in activation than healthy controls with greater task complexity, depending on the specific brain region assessed (P memory. Functional connectivity analysis suggests that altered inter-hemispheric interactions between dorsal and lateral prefrontal regions may provide an adaptive mechanism that could limit clinical expression of the disease distinct from recruitment of novel processing regions. Together, these results suggest that therapeutic enhancement of the coherence of interactions between brain regions normally recruited (functional enhancement), as well as recruitment of alternative areas or use of

  5. Determinants of iron accumulation in deep grey matter of multiple sclerosis patients

    DEFF Research Database (Denmark)

    Ropele, Stefan; Kilsdonk, Iris D; Wattjes, Mike P

    2014-01-01

    BACKGROUND: Iron accumulation in deep grey matter (GM) structures is a consistent finding in multiple sclerosis (MS) patients. This study focused on the identification of independent determinants of iron accumulation using R2* mapping. SUBJECTS AND METHODS: Ninety-seven MS patients and 81 healthy...

  6. Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients.

    NARCIS (Netherlands)

    Blitterswijk, M. van; Blokhuis, A.; Es, M.A. van; Vught, P.W. van; Rowicka, P.A.; Schelhaas, H.J.; Kooi, A.J. van der; Visser, M. de; Veldink, J.H.; Berg, L.H. van den

    2012-01-01

    Polymorphisms in the paraoxonase family (PON) have been reported in patients with amyotrophic lateral sclerosis (ALS), but a recent meta-analysis did not show a clear association. Recently, PON mutations have also been identified in ALS patients. In this study, we assessed the frequency of PON

  7. Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients

    NARCIS (Netherlands)

    van Blitterswijk, Marka; Blokhuis, Anna; van Es, Michael A.; van Vught, Paul W. J.; Rowicka, Paulina A.; Schelhaas, Helenius J.; van der Kooi, Anneke J.; de Visser, Marianne; Veldink, Jan H.; van den Berg, Leonard H.

    2012-01-01

    Polymorphisms in the paraoxonase family (PON) have been reported in patients with amyotrophic lateral sclerosis (ALS), but a recent meta-analysis did not show a clear association. Recently, PON mutations have also been identified in ALS patients. In this study, we assessed the frequency of PON

  8. Alemtuzumab for patients with relapsing multiple sclerosis after disease-modifying therapy

    DEFF Research Database (Denmark)

    Coles, Alasdair J; Twyman, Cary L; Arnold, Douglas L

    2012-01-01

    The anti-CD52 monoclonal antibody alemtuzumab reduces disease activity in previously untreated patients with relapsing-remitting multiple sclerosis. We aimed to assess efficacy and safety of alemtuzumab compared with interferon beta 1a in patients who have relapsed despite first-line treatment....

  9. Correlation between fatigue and self-esteem in patients with multiple sclerosis

    OpenAIRE

    Fragoso,Yára Dadalti; Silva,Érika Oliveira da; Finkelsztejn,Alessandro

    2009-01-01

    OBJECTIVE: To assess the possible association of fatigue with self-esteem in multiple sclerosis (MS) patients. METHOD: Thirty patients were prospectively assessed. None of them presented moderate or severe depression or anxiety and their degree of disability was low (EDSS

  10. Health-related quality of life in Iranian patients with multiple sclerosis

    DEFF Research Database (Denmark)

    Pakpour, Amir H.; Yekaninejad, Mir Saeed; Mohammadi, Nastaran Keshavarz

    2009-01-01

    Background and purpose: This study aimed to evaluate aspects of health-related quality of life (HRQoL) of patients with multiple sclerosis (MS) who live in Tehran and to compare data with evaluations of both the general population and MS patients in other countries Material and methods: One hundred...

  11. Survival in patients with amyotrophic lateral sclerosis, treated with an array of antioxidants

    NARCIS (Netherlands)

    Vyth, A.; Timmer, J. G.; Bossuyt, P. M.; Louwerse, E. S.; de Jong, J. M.

    1996-01-01

    Between 1983 and 1988 we treated 36 patients with sporadic amyotrophic lateral sclerosis (ALS) by an array of antioxidants and added other drugs to the regimen whenever a patient reported deterioration. Our customary prescription sequence was N-acetylcysteine (NAC); vitamins C and E;

  12. Euthanasia and physician-assisted suicide among patients with amyotrophic lateral sclerosis in the Netherlands

    NARCIS (Netherlands)

    Veldink, Jan H.; Wokke, John H. J.; van der Wal, Gerrit; de Jong, J. M. B. Vianney; van den Berg, Leonard H.

    2002-01-01

    Amyotrophic lateral sclerosis (ALS) is a disease that causes progressive paralysis leading to respiratory failure. Patients with ALS may consider physician-assisted suicide. However, it is not known how many patients, if given the option, would actually decide to end their lives by

  13. Cognitive-Behavioral Classifications of Chronic Pain in Patients with Multiple Sclerosis

    Science.gov (United States)

    Khan, Fary; Pallant, Julie F.; Amatya, Bhasker; Young, Kevin; Gibson, Steven

    2011-01-01

    The aim of this study was to replicate, in patients with multiple sclerosis (MS), the three-cluster cognitive-behavioral classification proposed by Turk and Rudy. Sixty-two patients attending a tertiary MS rehabilitation center completed the Pain Impact Rating questionnaire measuring activity interference, pain intensity, social support, and…

  14. VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

    NARCIS (Netherlands)

    van Blitterswijk, Marka; van Es, Michael A.; Koppers, Max; van Rheenen, Wouter; Medic, Jelena; Schelhaas, Helenius J.; van der Kooi, Anneke J.; de Visser, Marianne; Veldink, Jan H.; van den Berg, Leonard H.

    2012-01-01

    Previously, we have reported amyotrophic lateral sclerosis (ALS) families with multiple mutations in major ALS-associated genes. These findings provided evidence for an oligogenic basis of ALS. In our present study, we screened a cohort of 755 sporadic ALS patients, 111 familial ALS patients (97

  15. Support needs of caregivers of patients with amyotrophic lateral sclerosis: A qualitative study

    NARCIS (Netherlands)

    de Wit, Jessica; Schröder, Carin D.; El Mecky, Julia; Beelen, Anita; van den Berg, Leonard H.; Visser-Meily, Johanna M. A.

    2018-01-01

    The aim of this study was to explore the support needs of Dutch informal caregivers of patients with amyotrophic lateral sclerosis (ALS). Individual semi-structured interviews were conducted with 21 caregivers of ALS patients. Audio-taped interviews were transcribed and data were analyzed

  16. CD16-positive circulating monocytes and fibrotic manifestations of systemic sclerosis.

    Science.gov (United States)

    Lescoat, Alain; Lecureur, Valérie; Roussel, Mikael; Sunnaram, Béatrice Ly; Ballerie, Alice; Coiffier, Guillaume; Jouneau, Stéphane; Fardel, Olivier; Fest, Thierry; Jégo, Patrick

    2017-07-01

    The objective of this study is to assess the association of clinical manifestations of systemic sclerosis (SSc) with the absolute count of circulating blood monocyte subpopulations according to their membrane expression of CD16. Forty-eight consecutive patients fulfilling the 2013 ACR/EULAR classification criteria for SSc were included in this cross-sectional study. CD16+ monocyte absolute count was defined by flow cytometry and confronted to the clinical characteristics of SSc patients. Twenty-three healthy donors (HD) were randomly selected for comparison. SSc patients had an increased number of total circulating blood monocytes compared to HD (p skin fibrosis evaluated by the modified Rodnan skin score (p manifestations of SSc and their role in the pathogenesis of fibrosis in this autoimmune disorder should therefore be further considered.

  17. Place of death in patients with amyotrophic lateral sclerosis

    Directory of Open Access Journals (Sweden)

    J. Escarrabill

    2014-07-01

    Full Text Available Amyotrophic lateral sclerosis (ALS is a degenerative neurological disorder that affects motor neurons. Involvement of respiratory muscles causes the failure of the ventilator pump with more or less significant bulbar troubles. ALS course is highly variable but, in most cases, this disease entails a very significant burden for patients and caregivers, especially in the end-of-life period.In order to analyze the characteristics of ALS patients who die at home (DH and in hospital (DHosp and to study the variability of clinical practice, a retrospective medical records analysis was performed (n = 77 from five hospitals. Variables: time elapsed since the onset of symptoms and the beginning of ventilation, characteristics of ventilation (device, mask and hours/day, and support devices and procedures. Results: In all, 14% of patients were ventilated by tracheotomy. From the analysis, 57% of patients were of DH. Mean time since the onset of symptoms was 35.93 ± 25.89 months, significantly shorter in patients who DHosp (29.28 ± 19.69 months than DH (41.12 ± 29.04 (p = 0.044. The percentage of patients with facial ventilation is higher in DHosp (11.4% vs 39.4%, p < 0.005.DH or not is related to a set of elements in which health resources, physician attitudes and support resources in the community play a role in the decision-making process. There is great variability between countries and between hospitals in the same country. Given the variability of circumstances in each territory, the place of death in ALS might not be the most important element; more important are the conditions under which the process unfolds. Resumo: A esclerose lateral amiotrófica (ELA é uma perturbação neurológica degenerativa que afeta os neurónios motores. O envolvimento dos músculos respiratórios causa a falha da bomba ventilatória, com problemas bulbares mais ou menos significativos. A evolução da ELA

  18. Factor structure of the Disability and Impact Profile in patients with multiple sclerosis

    DEFF Research Database (Denmark)

    Cohen, J. L.; Pouwer, F; Pfennings, L E

    1999-01-01

    The Disability and Impact Profile (DIP) is used for the measurement of quality of life in multiple sclerosis (MS) patients. Data from 211 persons with definite MS from Belgium, Denmark and the Netherlands were used to address three questions. To what extent do the impairment ratings and their com...... and with satisfaction versus emotional distress. Provisional scales based on the factors were constructed.......The Disability and Impact Profile (DIP) is used for the measurement of quality of life in multiple sclerosis (MS) patients. Data from 211 persons with definite MS from Belgium, Denmark and the Netherlands were used to address three questions. To what extent do the impairment ratings...

  19. What do multiple sclerosis patients and their caregivers perceive as unmet needs?

    OpenAIRE

    Lorefice, Lorena; Mura, Gioia; Coni, Giulia; Fenu, Giuseppe; Sardu, Claudia; Frau, Jessica; Coghe, Giancarlo; Melis, Marta; Marrosu, Maria Giovanna; Cocco, Eleonora

    2013-01-01

    Background Multiple sclerosis (MS) has a major impact on the physical, psychological and social life of patients and their families. The aim of this study was to evaluate the different perceptions of patients and caregivers about management of MS, particularly about the same items, to gather information to ameliorate the care of patients. Methods We evaluated what MS patients and caregivers perceive as unmet needs and compared patients? opinions with caregivers? opinions using a multidimensio...

  20. CRISPR/Cas9-mediated targeted gene correction in amyotrophic lateral sclerosis patient iPSCs

    Directory of Open Access Journals (Sweden)

    Lixia Wang

    2017-04-01

    Full Text Available Abstract Amyotrophic lateral sclerosis (ALS is a complex neurodegenerative disease with cellular and molecular mechanisms yet to be fully described. Mutations in a number of genes including SOD1 and FUS are associated with familial ALS. Here we report the generation of induced pluripotent stem cells (iPSCs from fibroblasts of familial ALS patients bearing SOD1 +/A272C and FUS +/G1566A mutations, respectively. We further generated gene corrected ALS iPSCs using CRISPR/Cas9 system. Genome-wide RNA sequencing (RNA-seq analysis of motor neurons derived from SOD1 +/A272C and corrected iPSCs revealed 899 aberrant transcripts. Our work may shed light on discovery of early biomarkers and pathways dysregulated in ALS, as well as provide a basis for novel therapeutic strategies to treat ALS.

  1. Is there any relation between cervical cord plaques and discopathy in patients with multiple sclerosis?

    Science.gov (United States)

    Nikseresht, Alireza; Sharifian, Maryam; Izadi, Sadegh; Hamidian Jahromi, Alireza; Rezaianzadeh, Abbas

    2014-06-01

    Multiple sclerosis (MS) is the most common chronic autoimmune demyelinating disease of the central nervous system. The purpose of this study is to determine the relationship between the site of the cervical discopathy and cervical spinal cord plaque in MS patients. This retrospective study included all patients with a definite diagnosis of MS who were treated at an outpatient clinic between September 2004 and September 2011. All patients underwent cervical magnetic resonance imaging (MRI) for primary investigation of the disease. Cervical MRI scans were evaluated for detection of any evidence of cervical discopathy and cervical MS plaques. Any correlation between the site of the MS lesions and discopathy was recorded. From 536 patients who were involved in the study, 214 patients had both cervical discopathy and cervical cord plaques. In this group 148 (69.1% of patients) had cervical plaque at the same site of cervical discopathy. The number of patients with cervical cord plaque and discopathy at same site was significantly higher than those with plaque and discopathy at different sites (Pdiscopathy and cervical MS plaque. Copyright © 2014 Elsevier B.V. All rights reserved.

  2. A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci

    Science.gov (United States)

    Martin, Jose-Ezequiel; Assassi, Shervin; Diaz-Gallo, Lina-Marcela; Broen, Jasper C.; Simeon, Carmen P.; Castellvi, Ivan; Vicente-Rabaneda, Esther; Fonollosa, Vicente; Ortego-Centeno, Norberto; González-Gay, Miguel A.; Espinosa, Gerard; Carreira, Patricia; Camps, Mayte; Sabio, Jose M.; D'alfonso, Sandra; Vonk, Madelon C.; Voskuyl, Alexandre E.; Schuerwegh, Annemie J.; Kreuter, Alexander; Witte, Torsten; Riemekasten, Gabriella; Hunzelmann, Nicolas; Airo, Paolo; Beretta, Lorenzo; Scorza, Raffaella; Lunardi, Claudio; Van Laar, Jacob; Chee, Meng May; Worthington, Jane; Herrick, Arianne; Denton, Christopher; Fonseca, Carmen; Tan, Filemon K.; Arnett, Frank; Zhou, Xiaodong; Reveille, John D.; Gorlova, Olga; Koeleman, Bobby P.C.; Radstake, Timothy R.D.J.; Vyse, Timothy; Mayes, Maureen D.; Alarcón-Riquelme, Marta E.; Martin, Javier

    2013-01-01

    Systemic sclerosis (SSc) and systemic lupus erythematosus (SLE) are two archetypal systemic autoimmune diseases which have been shown to share multiple genetic susceptibility loci. In order to gain insight into the genetic basis of these diseases, we performed a pan-meta-analysis of two genome-wide association studies (GWASs) together with a replication stage including additional SSc and SLE cohorts. This increased the sample size to a total of 21 109 (6835 cases and 14 274 controls). We selected for replication 19 SNPs from the GWAS data. We were able to validate KIAA0319L (P = 3.31 × 10−11, OR = 1.49) as novel susceptibility loci for SSc and SLE. Furthermore, we also determined that the previously described SLE susceptibility loci PXK (P = 3.27 × 10−11, OR = 1.20) and JAZF1 (P = 1.11 × 10−8, OR = 1.13) are shared with SSc. Supporting these new discoveries, we observed that KIAA0319L was overexpressed in peripheral blood cells of SSc and SLE patients compared with healthy controls. With these, we add three (KIAA0319L, PXK and JAZF1) and one (KIAA0319L) new susceptibility loci for SSc and SLE, respectively, increasing significantly the knowledge of the genetic basis of autoimmunity. PMID:23740937

  3. The effect of continuous care on the lifestyle of patients with multiple sclerosis: A randomized clinical trial

    Directory of Open Access Journals (Sweden)

    Masoud Khodaveisi

    2017-01-01

    Full Text Available Background: Multiple sclerosis is a common debilitating chronic disease of the central nervous system with a progressive and prolonged nature. Patients need an adjusted lifestyle and continuous care in order to prevent its recurrence and progressive disabilities. This study aimed to assess the effect of continuous care on lifestyle in patients suffering from multiple sclerosis. Materials and Methods: A randomized clinical trial was conducted among 72 patients with multiple sclerosis who referred to the Farshchian Educational Hospital in Hamadan, Iran in 2013. The patients were allocated to intervention and control groups using balanced block randomization with blocks of four. The steps of continuous care (orientation, sensitization, control, and evaluation were implemented in the case group for 2 months. The patients' lifestyle was assessed before and 1 and 2 months after continuous care using the researcher-developed Lifestyle Questionnaire. The data were analyzed using the Chi-square test, t-test, and repeated-measures analysis of variance. Results: The mean score of lifestyle and its dimensions were significantly higher in the intervention group 1 and 2 months after the intervention compared to the baseline (P = 0.001. In contrast, the mean score of lifestyle and its dimensions had no significant difference in the control group 1 and 2 months after routine care compared to the baseline.Conclusions: Continuous care improved the patients' lifestyle. It could be designed as an appropriate care system into the hospitals or other health care centers. This care system could be used widely in order to improve adherence to suitable lifestyle in patients with chronic diseases.

  4. Progressive systemic sclerosis: high-resolution computed tomography findings; Esclerose sistemica progressiva: aspectos na tomografia computadorizada de alta resolucao

    Energy Technology Data Exchange (ETDEWEB)

    Gasparetto, Emerson L.; Pimenta, Rodrigo; Ono, Sergio E.; Escuissato, Dante L. [Parana Univ., Curitiba, PR (Brazil). Hospital de Clinicas. Servico de Radiologia Medica]. E-mail: dante.luiz@onda.com.br; Inoue, Cesar [Parana Univ., Curitiba, PR (Brazil). Faculdade de Medicina

    2005-09-15

    Objective: To describe the high-resolution computed tomography findings in the lung of patients with systemic sclerosis, independently of the respiratory symptoms. Materials and methods: Seventy-three high-resolution computed tomography scans of 44 patients with clinical diagnosis of systemic sclerosis were reviewed and defined by the consensus of two radiologists. Results: Abnormalities were seen in 91.8% (n = 67) of the scans. The most frequent findings were reticular pattern (90.4%), ground-glass opacities (63%), traction bronchiectasis and bronchiolectasis (56.2%), esophageal dilatation (46.6%), honeycombing pattern (28.8%) and signs of pulmonary hypertension (15.6%). In most cases the lesions were bilateral (89%) and symmetrical (58.5%). The lesions were predominantly located in the basal (91.2%) and peripheral (92.2%) regions. Conclusion: In the majority of the patients, progressive systemic sclerosis can cause pulmonary fibrosis mainly characterized by reticular pattern with basal and peripheral distribution on high-resolution computed tomography. (author)

  5. Effects of physiotherapy treatment for urinary incontinence in patient with multiple sclerosis.

    Science.gov (United States)

    Pereira, Carla Maria de Abreu; Castiglione, Mariane; Kasawara, Karina Tamy

    2017-07-01

    [Purpose] The aim of the study was to evaluate the benefits of physical therapy for urinary incontinence in patients with multiple sclerosis and to verify the impact of urinary incontinence on the patient's quality of life. [Subject and Methods] A case study of a 55-year-old female patient diagnosed with multiple sclerosis and mixed urinary incontinence was conducted. Physical therapy sessions were conducted once a week, in total 15 sessions, making use of targeted functional electrical vaginal stimulation, along with active exercises for the pelvic floor muscles and electrical stimulation of the posterior tibial nerve, behavioral rehabilitation and exercise at home. [Results] After 15 physical therapy sessions, a patient diagnosed with multiple sclerosis and mixed urinary incontinence showed continued satisfactory results after five months. She showed better quality of life, higher strength of pelvic floor muscle and reduced urinary frequency without nocturia and enuresis. [Conclusion] The physical therapy protocol in this patient with multiple sclerosis and mixed urinary incontinence showed satisfactory results reducing urinary incontinence symptomatology and improving the patient's quality of life.

  6. Coactivation of Lower Limb Muscles during Gait in Patients with Multiple Sclerosis.

    Science.gov (United States)

    Boudarham, Julien; Hameau, Sophie; Zory, Raphael; Hardy, Alexandre; Bensmail, Djamel; Roche, Nicolas

    2016-01-01

    Coactivation of agonist and antagonist lower limb muscles during gait stiffens joints and ensures stability. In patients with multiple sclerosis, coactivation of lower limb muscles might be a compensatory mechanism to cope with impairments of balance and gait. The aim of this study was to assess coactivation of agonist and antagonist muscles at the knee and ankle joints during gait in patients with multiple sclerosis, and to evaluate the relationship between muscle coactivation and disability, gait p