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Sample records for scleroderma fibrosing alveolitis

  1. PET scanning of macrophages in patients with scleroderma fibrosing alveolitis

    Energy Technology Data Exchange (ETDEWEB)

    Branley, Howard M. [Imperial College London, Hammersmith Campus, London (United Kingdom)], E-mail: Howard.Branley@whittington.nhs.uk; Bois, Roland M. du; Wells, Athol U. [Royal Brompton Hospital, London (United Kingdom); Jones, Hazel A. [Imperial College London, Hammersmith Campus, London (United Kingdom)

    2008-11-15

    Rationale: Assessment of disease activity in fibrosing alveolitis due to systemic sclerosis (FASSc) is difficult without using invasive investigation. A repeatable noninvasive method of assessing disease at a cellular level such as with positron emission tomography (PET) could be of great value in evaluating high-resolution changes in the pathological process. Objectives: To investigate whether the level of inflammatory cell traffic and lung density in FASSc, imaged in vivo by PET, is different to controls and whether they are associated with changes in pulmonary function indices. Methods: We used PET to measure lung density and tissue uptake of {sup 11}C-[R]-PK11195, a ligand that binds to receptors found in abundance in macrophages. Fifteen patients with FASSc were compared to seven controls. Results: A trend of reduced uptake of {sup 11}C-[R]-PK11195 was observed in FASSc patients (P=.09) and correlated inversely with lung density (r=-.62; P<.05), which was significantly elevated in FASSc [0.35{+-}0.02 vs. 0.23{+-}0.02 g/cc (mean{+-}S.E.M.); P<.005]. Conclusion: These results demonstrate that inflammatory cell traffic and lung density can be imaged in vivo in FASSc using PET, and that this approach might be of potential value in understanding, in situ, components of pathogenesis that may have value for prognosis.

  2. PET scanning of macrophages in patients with scleroderma fibrosing alveolitis

    International Nuclear Information System (INIS)

    Branley, Howard M.; Bois, Roland M. du; Wells, Athol U.; Jones, Hazel A.

    2008-01-01

    Rationale: Assessment of disease activity in fibrosing alveolitis due to systemic sclerosis (FASSc) is difficult without using invasive investigation. A repeatable noninvasive method of assessing disease at a cellular level such as with positron emission tomography (PET) could be of great value in evaluating high-resolution changes in the pathological process. Objectives: To investigate whether the level of inflammatory cell traffic and lung density in FASSc, imaged in vivo by PET, is different to controls and whether they are associated with changes in pulmonary function indices. Methods: We used PET to measure lung density and tissue uptake of 11 C-[R]-PK11195, a ligand that binds to receptors found in abundance in macrophages. Fifteen patients with FASSc were compared to seven controls. Results: A trend of reduced uptake of 11 C-[R]-PK11195 was observed in FASSc patients (P=.09) and correlated inversely with lung density (r=-.62; P<.05), which was significantly elevated in FASSc [0.35±0.02 vs. 0.23±0.02 g/cc (mean±S.E.M.); P<.005]. Conclusion: These results demonstrate that inflammatory cell traffic and lung density can be imaged in vivo in FASSc using PET, and that this approach might be of potential value in understanding, in situ, components of pathogenesis that may have value for prognosis

  3. Autoantibodies in cryptogenic fibrosing alveolitis

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    du Bois Ron

    2001-02-01

    Full Text Available Abstract The pathogenesis of cryptogenic fibrosing alveolitis (CFA involves injury, an immune/inflammatory response and fibrosis. The cause of the injury is unknown, but the identification of serum autoantibodies makes an autoimmune aetiology attractive. The core study on which this commentary is based used novel cloning and serum screening technologies in order to identify new public and private autoantibodies in sera from 12 patients with CFA. Largely negative conclusions were drawn from that study. However, we suggest that the prevalence of autoantibodies may have been underestimated, that the study was timely and that this approach is worth pursuing further.

  4. Ventilation perfusion radionuclide imaging in cryptogenic fibrosing alveolitis

    International Nuclear Information System (INIS)

    Bourke, S.J.; Hawkins, T.; Keavey, P.M.; Gascoigne, A.D.; Corris, P.A.

    1993-01-01

    There is increasing interest in ventilation perfusion (V/Q) imaging in cryptogenic fibrosing alveolitis because of the data these scans provide on the dynamic V/Q relationships in such patients undergoing single lung transplantation. We analysed the V/Q scans of 45 consecutive patients with advanced cryptogenic fibrosing alveolitis being considered for single lung transplantation. Scans were classified according to the presence, severity and degree of matching of defects in ventilation and perfusion images and the results were compared with the data obtained from lung function tests. Ventilation images showed defects in 13 (29%) and ''washout delay'' in 15 (33%) patients; 10 (22%) patients had asymmetric distribution of ventilation with one lung receiving >60% of total ventilation. Perfusion images showed normal perfusion in 8 (18%), mild defects in 18 (40%) and major defects in 19 (42%) patients. The distribution of perfusion between lungs was significantly asymmetric in 20 (45%) patients. V/Q images were matched in 15 (33%), mildly mismatched in 15 (33%) and severely mismatched in 15 (33%) patients, but the degree of V/Q mismatch did not show a relationship to KCO, PaO 2 or A-aO 2 gradient. The appearances were atypical of pulmonary embolism in eight patients. (Author)

  5. Cryptogenic fibrosing alveolitis and lung cancer: the BTS study.

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    Harris, J M; Johnston, I D A; Rudd, R; Taylor, A J Newman; Cullinan, P

    2010-01-01

    The risk of lung cancer is often reported to be increased for patients with cryptogenic fibrosing alveolitis (CFA). Vital status was sought for all 588 members of the British Thoracic Society (BTS) cryptogenic fibrosing alveolitis (CFA) study 11 years after entry to the cohort. Observed deaths due to lung cancer were compared with expected deaths using age-, sex- and period-adjusted national rates. The roles of reported asbestos exposure and smoking were also investigated. 488 cohort members (83%) had died; 46 (9%) were certified to lung cancer (ICD9 162). The standardised mortality ratio (SMR) was 7.4 (95% CI 5.4 to 9.9). Stratified analysis showed increased lung cancer mortality among younger subjects, men and ever smokers. Using an independent expert panel, 25 cohort members (4%) were considered to have at least moderate exposure to asbestos; the risk of lung cancer was increased for these subjects (SMR 13.1 (95% CI 3.6 to 33.6)) vs 7.2 (95% CI 5.2 to 9.7) for those with less or no asbestos exposure). Ever smoking was reported by 448 (73%) of the cohort and was considerably higher in men than in women (92% vs 49%; p<0.001). Most persons who died from lung cancer were male (87%), and all but two (96%) had ever smoked. Ever smokers presented at a younger age (mean 67 vs 70 years; p<0.001) and with less breathlessness (12% smokers reported no breathlessness vs 5% never smokers; p = 0.02). These findings confirm an association between CFA and lung cancer although this relationship may not be causal. The high rate of smoking and evidence that smokers present for medical attention earlier than non-smokers suggest that smoking could be confounding this association.

  6. Measures of the inflammatory response in cryptogenic fibrosing alveolitis

    International Nuclear Information System (INIS)

    Pantin, C.F.; Valind, S.O.; Sweatman, M.; Lawrence, R.; Rhodes, C.G.; Brudin, L.; Britten, A.; Hughes, J.M.; Turner-Warwick, M.

    1988-01-01

    Cryptogenic fibrosing alveolitis (CFA) is characterized by interstitial fibrosis and parenchymal inflammation. Eleven patients with CFA (10 proved by lung biopsy) were followed over 2 yr using clinical symptoms, radiographic change, and pulmonary function tests to adjust their treatment. Lung lavage, positron camera (PET) measurements of regional extravascular lung density (Dev), pulmonary blood volume (Vb), and the metabolic rate for 18F-deoxyglucose (MRglc), clearance of 99mTc-diethylenetriaminepentacetate (99mTc-DTPA) aerosol, and lung uptake of 67Ga were measured initially and at the end of the first year to give a profile of the inflammatory response. Compared with normal subjects, there was an increased percentage of neutrophils and eosinophils in the lung lavage, increased Dev (p less than 0.002) with no significant difference in Vb, increased MRglc (p less than 0.02), 99mTc-DTPA clearance (p less than 0.002), and 67Ga uptake (p less than 0.02). The smallest increases in Dev were seen in the two patients with most destruction shown by lung biopsy. There were inverse correlations between Dev and both FVC and TLC, but a direct correlation between Vb and transfer factor. 99mTc-DTPA clearance changed concordantly with clinical status and radiographic and respiratory function changes during the first year. If glucose utilization (MRglc) remained in the normal range between the initial and first yearly assessment, the patient improved or remained stable during the second year as shown by clinical status and radiographic and respiratory function measurements. If it rose or remained high, the patient's condition deteriorated

  7. Incidence and prevalence of cryptogenic fibrosing alveolitis in a Norwegian community

    DEFF Research Database (Denmark)

    von Plessen, C; Grinde, O; Gulsvik, A

    2003-01-01

    This study assesses the incidence and prevalence of cryptogenic fibrosing alveolitis (CFA) in a well-defined and stable Norwegian population of 250,000 inhabitants during a period of 15 years. We conducted a file survey of all patients (n = 376) aged 16 years or older with a clinician's diagnosis...

  8. Traction bronchiectasis in cryptogenic fibrosing alveolitis: associated computed tomographic features and physiological significance

    International Nuclear Information System (INIS)

    Desai, Sujal R.; Wells, Athol U.; Bois, Roland M. du; Rubens, Michael B.; Hansell, David M.

    2003-01-01

    Our objective was to evaluate the associated CT features and physiological consequences of traction bronchiectasis in patients with cryptogenic fibrosing alveolitis (CFA). The CT scans of 212 patients with CFA (158 men, 54 women; mean age 62.2±10.6 years) were evaluated independently by two observers. The extent of fibrosis, the proportions of a reticular pattern and ground-glass opacification and the extent of emphysema were scored at five levels. The predominant CT pattern, coarseness of a reticular pattern and severity of traction bronchiectasis were graded semiquantitatively. Physiological indices were correlated with CT features. There was traction bronchiectasis on CT in 202 of 212 (95%) patients. Increasingly severe traction bronchiectasis was independently associated with increasingly extensive CFA (p CO (p 2 (p<0.0005), but not indices of air-flow obstruction. In CFA, traction bronchiectasis increases with more extensive disease, a lower proportion of ground-glass opacification and a coarser reticular pattern, but it decreases with concurrent emphysema. Increasingly severe traction bronchiectasis is associated with additional physiological impairment for a given extent of pulmonary fibrosis and emphysema. (orig.)

  9. Traction bronchiectasis in cryptogenic fibrosing alveolitis: associated computed tomographic features and physiological significance

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    Desai, Sujal R. [Department of Radiology, King' s College Hospital, Denmark Hill, SE5 9RS, London (United Kingdom); Wells, Athol U.; Bois, Roland M. du [Interstitial Lung Disease Unit, Royal Brompton Hospital, Emmanuel Kaye Building, Manresa Road, Fulham, SW6 6LR, London (United Kingdom); Rubens, Michael B.; Hansell, David M. [Department of Radiology, Royal Brompton Hospital, Sydney Street, SW3 6NP, London (United Kingdom)

    2003-08-01

    Our objective was to evaluate the associated CT features and physiological consequences of traction bronchiectasis in patients with cryptogenic fibrosing alveolitis (CFA). The CT scans of 212 patients with CFA (158 men, 54 women; mean age 62.2{+-}10.6 years) were evaluated independently by two observers. The extent of fibrosis, the proportions of a reticular pattern and ground-glass opacification and the extent of emphysema were scored at five levels. The predominant CT pattern, coarseness of a reticular pattern and severity of traction bronchiectasis were graded semiquantitatively. Physiological indices were correlated with CT features. There was traction bronchiectasis on CT in 202 of 212 (95%) patients. Increasingly severe traction bronchiectasis was independently associated with increasingly extensive CFA (p<0.0005), a coarser reticular pattern (p<0.001), a lower proportion of ground-glass opacification (p<0.005) and less extensive emphysema (p<0.0005). Increasingly severe traction bronchiectasis was independently related to depression of DL{sub CO} (p<0.005), FVC (p=0.02) and pO{sub 2} (p<0.0005), but not indices of air-flow obstruction. In CFA, traction bronchiectasis increases with more extensive disease, a lower proportion of ground-glass opacification and a coarser reticular pattern, but it decreases with concurrent emphysema. Increasingly severe traction bronchiectasis is associated with additional physiological impairment for a given extent of pulmonary fibrosis and emphysema. (orig.)

  10. Scleroderma

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    Scleroderma means hard skin. It is a group of diseases that cause abnormal growth of connective tissue. ... their shape and helps keep them strong. In scleroderma, the tissue gets hard or thick. It can ...

  11. Scleroderma Mimickers

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    Morgan, Nadia D.; Hummers, Laura K.

    2017-01-01

    Opinion statement Cutaneous fibrosing disorders encompass a diverse array of diseases united by the presence of varying degrees of dermal sclerosis. The quality and distribution of skin involvement, presence or absence of systemic complications and unique associated laboratory abnormalities often help to distinguish between these diseases. It is imperative that an effort is made to accurately differentiate between scleroderma and its mimics, in order to guide long-term management and facilitate implementation of the appropriate treatment modality where indicated. PMID:28473954

  12. Aberrant immune response with consequent vascular and connective tissue remodeling - causal to scleroderma and associated syndromes such as Raynaud phenomenon and other fibrosing syndromes?

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    Durmus, Nedim; Park, Sung-Hyun; Reibman, Joan; Grunig, Gabriele

    2016-11-01

    Scleroderma and other autoimmune-induced connective tissue diseases are characterized by dysfunctions in the immune system, connective tissue and the vasculature. We are focusing on systemic sclerosis (SSc)-associated pulmonary hypertension, which remains a leading cause of death with only a 50-60% of 2-year survival rate. Much research and translational efforts have been directed at understanding the immune response that causes SSc and the networked interactions with the connective tissue and the vasculature. One of the unexpected findings was that in some cases the pathogenic immune response in SSc resembles the immune response to helminth parasites. During coevolution, means of communication were developed which protect the host from over-colonization with parasites and which protect the parasite from excessive host responses. One explanation for the geographically clustered occurrence of SSc is that environmental exposures combined with genetic predisposition turn on triggers of molecular and cellular modules that were once initiated by parasites. Future research is needed to further understand the parasite-derived signals that dampen the host response. Therapeutic helminth infection or treatment with parasite-derived response modifiers could be promising new management tools for autoimmune connective tissue diseases.

  13. Scleroderma with Nodular Scleroderma

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    Chutika Srisuttiyakorn

    2016-11-01

    Full Text Available Background: Nodular scleroderma is a rare variant of scleroderma which can occur in connection with systemic sclerosis or morphea. A biopsy from the lesion can demonstrate the scleroderma pattern, i.e., keloid pattern or mixed type. Treatment is challenging, and several treatments modalities have been reported with unsatisfactory results. Main Observations: We present a case of systemic sclerosis in a 50-year-old female who developed nodular scleroderma in the absence of deterioration of the scleroderma condition. Although no additional treatment was given, the lesions remained stable without progression. Conclusions: Although this condition is rare, it has been reported sporadically, and clinicians should be able to recognize this variant in cases of scleroderma presenting with firm nodules or plaques.

  14. [Farmer's lung--a form of exogenous allergic alveolitis].

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    Sambale, M; Liebetrau, G

    1990-11-15

    Exogenic allergic alveolitides are caused by organic dusts which contain bacteria, moulds or vegetable and animal antigens. The farmer's lung as a form of the exogenic allergic alveolitis is a rare disease. The uncharacteristic symptomatology in the initial phase and in particular the retarded beginning of the symptom after several hours handicap the timely recognition in an early phase of the disease so that curative therapeutic measures are rarely possible. The cases of the disease are found only at the chronic stage, at the stage of the pulmonary fibrosis. Then the prognosis is unfavourable. In the Central Clinic for Heart and Lung Diseases Bad Berka 1,110 patients with alveolitides and lung fibroses were diagnosed in the period from 1975 to 1988. 306 of them could be clarified as exogenic allergic alveolitis, 61 of them (19.8%) were farmer's lungs.

  15. Localized Scleroderma

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    ... How Is Localized Scleroderma Diagnosed? Doctors who are familiar with scleroderma, or who are experts at examining ... systemic treatment with a medication or other treatment interventions (for example, ultraviolet light), are reserved for more ...

  16. Risk Factors for Scleroderma

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    ... You are here: Home For Patients Risk Factors Risk Factors for Scleroderma The cause of scleroderma is ... what biological factors contribute to scleroderma pathogenesis. Genetic Risk Scleroderma does not tend to run in families ...

  17. Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review.

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    Ferreli, Caterina; Gasparini, Giulia; Parodi, Aurora; Cozzani, Emanuele; Rongioletti, Franco; Atzori, Laura

    2017-12-01

    Scleroderma refers to an autoimmune connective tissue fibrosing disease, including three different subsets: localized scleroderma, limited cutaneous systemic sclerosis, and diffuse cutaneous systemic sclerosis with divergent patterns of organ involvement, autoantibody profiles, management, and prognostic implications. Although systemic sclerosis is considered the disease prototype that causes cutaneous sclerosis, there are many other conditions that can mimic and be confused with SSc. They can be classified into immune-mediated/inflammatory, immune-mediated/inflammatory with abnormal deposit (mucinoses), genetic, drug-induced and toxic, metabolic, panniculitis/vascular, and (para)neoplastic disorders according to clinico-pathological and pathogenetic correlations. This article reviews the clinical presentation with emphasis on cutaneous disease, etiopathogenesis, diagnosis, and treatment options available for the different forms of scleroderma firstly and for scleroderma-like disorders, including scleromyxedema, scleredema, nephrogenic systemic fibrosis, eosinophilic fasciitis, chronic graft-versus-host disease, porphyria cutanea tarda, diabetic stiff-hand syndrome (diabetic cheiroartropathy), and other minor forms. This latter group of conditions, termed also scleroderma mimics, sclerodermiform diseases, or pseudosclerodermas, shares the common thread of skin thickening but presents with distinct cutaneous manifestations, skin histology, and systemic implications or disease associations, differentiating each entity from the others and from scleroderma. The lack of Raynaud's phenomenon, capillaroscopic abnormalities, or scleroderma-specific autoantibodies is also important diagnostic clues. As cutaneous involvement is the earliest, most frequent and characteristic manifestation of scleroderma and sclerodermoid disorders, dermatologists are often the first-line doctors who must be able to promptly recognize skin symptoms to provide the affected patient a correct

  18. Systemic involvement in localized scleroderma/morphea.

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    Gorkiewicz-Petkow, Anna; Kalinska-Bienias, Agnieszka

    2015-01-01

    Localized scleroderma (LoSc), also known as morphea, is a rare fibrosing disorder of the skin and underlying tissues. Sclerosis is mainly limited to the skin, but subcutaneous tissue, fascia, and underlying muscles and bone may also be involved. In some cases, systemic manifestation with visceral abnormalities may occur. Several publications have focused on significant aspects of LoSc: genetics, immunity, epidemiology, scoring systems, and unification of classifications. Clinical studies featuring large cohorts with the disease published by various international study groups have been of great value in furthering the diagnostic and therapeutic management of LoSc. Copyright © 2015 Elsevier Inc. All rights reserved.

  19. Dental Care in Scleroderma

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    Dental Care in Scleroderma People living with scleroderma face unique challenges while trying to maintain their oral ... They are more likely to be affected by dental conditions such as small mouth, dry mouth, jaw ...

  20. Scleroderma and Sexuality

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    Scleroderma and Sexuality INTRODUCTION If you or your partner have been diagnosed with scleroderma, you may be wondering how this will ... will continue to find satisfaction and enjoyment through sexuality. If you are single, you may wonder how ...

  1. Pulmonary Hypertension in Scleroderma

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    PULMONARY HYPERTENSION IN SCLERODERMA PULMONARY HYPERTENSION Pulmonary hypertension (PH) is high blood pressure in the blood vessels of the lungs. If the high ... the right side of the heart. Patients with scleroderma are at increased risk for developing PH from ...

  2. Tips for Living with Scleroderma

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    ... Patients Tips for Living Tips for Living with Scleroderma Ways to help manage your symptoms The Scleroderma ... help find improved therapies and a cure for scleroderma! Your gift today will be matched to have ...

  3. Genetics Home Reference: systemic scleroderma

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Systemic scleroderma Systemic scleroderma Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Systemic scleroderma is an autoimmune disorder that affects the skin ...

  4. [Pulmonary involvement in systemic sclerosis. Alveolitis, fibrosis and pulmonar arterial hypertension].

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    Navarro, Carmen

    2006-11-01

    Pulmonary involvement in systemic sclerosis. Alveolitis, fibrosis and pulmonar arterial hypertension Lung disease is present in most of the patients with systemic sclerosis and is now the most important cause of mortality. Interstitial lung disease and pulmonary hypertension are, so far, the main disorders found and both are difficult to detect at the earliest stages. However, diagnostic tools such as immunological test, lung function test, high resolution CT, bronchoalveolar lavage, echocardiography, right-side cardiac catheterization, or lung biopsy are necessary to accurately evaluate the clinical status and allow to improve the management organ-specific ad hoc. Progress in immunological and vascular therapies as well as other emergence drugs offer new expectations to scleroderma patients. Copyright © 2006 Elsevier España S.L. Barcelona. Published by Elsevier Espana. All rights reserved.

  5. Scleroderma: nomenclature, etiology, pathogenesis, prognosis, and treatments: facts and controversies.

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    Fett, Nicole

    2013-01-01

    Scleroderma refers to a heterogeneous group of autoimmune fibrosing disorders. The nomenclature of scleroderma has changed dramatically in recent years, with morphea (localized scleroderma), limited cutaneous systemic sclerosis, diffuse cutaneous systemic sclerosis, and systemic sclerosis sine scleroderma encompassing the currently accepted disease subtypes. Major advances have been made in the molecular studies of morphea and systemic sclerosis; however, their etiologies and pathogenesis remain incompletely understood. Although morphea and systemic sclerosis demonstrate activation of similar inflammatory and fibrotic pathways, important differences in signaling pathways and gene signatures indicate they are likely biologically distinct processes. Morphea can cause significant morbidity but does not affect mortality, whereas systemic sclerosis has the highest disease-specific mortality of all autoimmune connective tissue diseases. Treatment recommendations for morphea and systemic sclerosis are based on limited data and largely expert opinions. Current collaborative efforts in morphea and systemic sclerosis research will hopefully lead to better understanding of the etiology and pathogenesis of these rare and varied diseases and improved treatment options. Published by Elsevier Inc.

  6. Scleroderma Research Foundation

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    ... will continue. Learn more The SRF: A Four Star Charity The SRF has achieved the highest possible ... Saget share about his connection to scleroderma and what he is doing to make a difference. Click ...

  7. Frontal fibrosing alopecia treatment options.

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    Fertig, Raymond; Tosti, Antonella

    2016-11-01

    Frontal fibrosing alopecia (FFA) is a rare dermatologic disease that causes scarring and hair loss and is increasing in prevalence worldwide. FFA patients typically present with hair loss in the frontal scalp region and eyebrows which may be associated with sensations of itching or burning. FFA is a clinically distinct variant of lichen planopilaris (LPP) that affects predominantly postmenopausal women, although men and premenopausal women may also be affected. Early diagnosis and prompt treatment are necessary to prevent definitive scarring and permanent hair loss. Data from retrospective studies indicate that 5-alpha-reductase inhibitors (5aRIs) are effective in stabilizing the disease. In our clinical experience, we have seen optimal results treating FFA patients with oral finasteride in conjunction with hydroxychloroquine, topical calcineurin inhibitors (tacrolimus) and excimer laser in patients with signs of active inflammation.

  8. Localized scleroderma: a clinical study at a single center in Korea.

    Science.gov (United States)

    Noh, Jung Won; Kim, Jinseok; Kim, Jae-Wang

    2013-08-01

    Localized scleroderma (morphea) is a rare autoimmune disease limited to the skin, characterized by cutaneous fibrosing and obstructive vasculopathy. Localized scleroderma may invade into the subcutaneous fat layer and cause permanent functional disability. Because of its rarity, there have been few clinical surveys of patients with localized scleroderma in Korea. The aim of this study was to elucidate the clinical presentation, serological data, and clinical outcomes of localized scleroderma. This was a retrospective survey conducted by reviewing available medical records during a 7 year-period from 2004 to 2010 in a single medical center in Jeju Island, South Korea. In total 43 patients with localized scleroderma were included. Localized scleroderma occurred primarily in females (female to male ratio 2.6 : 1.0). Most patients were between 10 and 29 years of age and the mean age at diagnosis was 26.2 years. Plaque (51.2%) and linear morphea (37.2%) were most common. No case was associated with systemic scleroderma (systemic sclerosis). The most common site of plaque morphea was the trunk (47.8%). In the linear type, the most common site was head-neck (52.9%). Fluorescent antinuclear antibody was positive in 23.3% of all cases. Treatment included systemic corticosteroids, colchicine, anti-malarial agents, D-penicillamine or intralesional triamcinolone injection. Clinical improvement, including significant and partial response, was seen in only 62.8% of treated patients. Localized scleroderma is a chronic inflammatory condition confined to the skin. In order to exclude other conditions, thorough history taking, physical examination, serologic studies and histopathologic examinations should be conducted. © 2013 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

  9. β-thymosins and interstitial lung disease: study of a scleroderma cohort with a one-year follow-up

    Directory of Open Access Journals (Sweden)

    Messana Irene

    2011-02-01

    Full Text Available Abstract Background β-thymosins play roles in cytoskeleton rearrangement, angiogenesis, fibrosis and reparative process, thus suggesting a possible involvement in the pathogenesis of systemic sclerosis. The aim of the study was to investigate the presence of thymosins β4, β4 sulfoxide, and β10 in bronchoalveolar lavage fluid of scleroderma patients with interstitial lung disease and the relation of these factors with pulmonary functional and radiological parameters. Methods β-thymosins concentrations were determined by Reverse Phase-High Performance Liquid Chromatography-Electrospray-Mass Spectrometry in the bronchoalveolar lavage fluid of 46 scleroderma patients with lung involvement and of 15 controls. Results Thymosin β4, β4 sulfoxide, and β10 were detectable in bronchoalveolar lavage fluid of patients and controls. Thymosin β4 levels were significantly higher in scleroderma patients than in controls. In addition, analyzing the progression of scleroderma lung disease at one-year follow-up, we have found that higher thymosin β4 levels seem to have a protective role against lung tissue damage. Thymosin β4 sulfoxide levels were higher in the smokers and in the scleroderma patients with alveolitis. Conclusions We describe for the first time β-thymosins in bronchoalveolar lavage fluid and their possible involvement in the pathogenesis of scleroderma lung disease. Thymosin β4 seems to have a protective role against lung tissue damage, while its oxidation product mirrors an alveolar inflammatory status.

  10. Esclerose sistêmica e sarcoidose Scleroderma and sarcoidosis

    Directory of Open Access Journals (Sweden)

    Fernanda Guidolin

    2005-10-01

    Full Text Available Os autores descrevem o caso de uma paciente com esclerose sistêmica (ES - forma limitada - com comprometimento pulmonar tipo fibrose intersticial. Após sete anos sem acompanhamento, foram identificados gânglios mediastinais e esplenomegalia. A biópsia de linfonodos mostrou granuloma não caseoso sugestivo de sarcoidose. Estamos mostrando, neste caso, a associação de ES e sarcoidose, para chamar a atenção para esse fato e enfatizar que a sarcoidose deve ser lembrada no diagnóstico diferencial das complicações pulmonares da esclerodermia.The authors describe the case of a patient with limited scleroderma and interstitial lung disease. Follow-up was lost for seven years, when patient returned presenting nodular mediastinal enlargement and splenomegaly. Lymph node biopsy showed granulomatous lesions without caseum suggestive of sarcoidosis. This case is being presented to remind the association of scleroderma and sarcoidosis as a possible differential diagnosis of scleroderma pulmonary complications.

  11. Mimics of scleroderma

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    Kaveri K Nalianda

    2017-01-01

    Full Text Available Systemic sclerosis is a rare autoimmune connective tissue disorder characterised typically by tightening and tethering of skin. However, several other disorders are also characterised by hardening and thickening of skin. These mimics can be potentially confused with systemic sclerosis, leading to a misdiagnosis. This review describes the aetiopathogenesis, clinical features and treatment of Morphea (localised scleroderma, Scleredema, Scleromyxoedema, Eosinophilic fasciitis, Nephrogenic Systemic Fibrosis, Diabetic Cheiroarthropathy, chronic GVHD, POEMS syndrome and drug induced scleroderma like illness. A careful and thorough clinical assessment is essential in order to differentiate these mimics from each other and from systemic sclerosis, establish the diagnosis, and initiate appropriate treatment.

  12. [Demonstration of subclinical pulmonary alveolitis in spondylarthropathies].

    Science.gov (United States)

    Jeandel, P; Bonnet, D; Chouc, P Y; Molinier, S; Raphenon, G; Martet, G; Merouze, F; de Muizon, H

    1994-05-01

    Restrictive ventilatory dysfunction, lowered diffusing capacity, and apical fibrosis have been reported in ankylosing spondylitis. To investigate the pathogenesis of these abnormalities, we studied distal airspace cytology by performing bronchoalveolar lavage in 34 spondyloarthropathy patients (ankylosing spondylitis, n = 16; reactive arthritis, n = 4; axial psoriatic arthritis, n = 2; and undifferentiated spondyloarthropathy with HLA B27-positivity in every case but one, n = 12). Mean age was 32.4 +/- 13.7 years. None of the study patients had apical fibrosis, lower respiratory tract infection, or exposure to airborne pollutants other than tobacco smoke. The control group was composed of nine subjects who had no lung or inflammatory diseases and were not using medications. Significantly higher proportions of lymphocytes were found in bronchoalveolar lavage specimens from patients, as compared with controls. This difference was not influenced by smoking or medication use (non steroidal antiinflammatory drugs, sulfasalazopyridine). Alveolar lymphocytosis was not correlated with laboratory tests for disease activity (erythrocyte sedimentation rate, serum IgA levels) or with the presence of restrictive ventilatory dysfunction. Increases in the proportion of lymphocytes were of similar magnitude in patients with ankylosing spondylitis and in those with other spondyloarthropathies. Absolute total cell counts and relative neutrophil counts were similar in patients and controls. However, among the patients with spondyloarthropathies, those with a disease duration of more than five years had a significantly higher proportion of neutrophils than those with a disease duration of less than five years. These findings demonstrate that spondyloarthropathy patients have subclinical lymphocyte alveolitis. Although of unclear significance, this alveolitis may be related to the development of apical fibrosis in some patients with ankylosing spondylitis.

  13. CT-semiotics and clinical aspects of extrinsic allergic alveolitis

    International Nuclear Information System (INIS)

    Skrynnikova, I.P.; Momot, N.V.; Vakulenko, I.P.; Tanasichuk-Gazhieva, N.V

    2003-01-01

    Extrinsic allergic alveolitis can be a difficult diagnostic problem. The comparison of the results of CT research with the clinical immunological and morphological data allowed to define the forms and diagnose the characteristic symptoms of the disease

  14. Scleroderma: a case report

    Science.gov (United States)

    Harahap, T. A.; Marpaung, B.

    2018-03-01

    Scleroderma is a complex disease in which extensive fibrosis, vascular alterations, and autoantibodies against various cellular antigens are among the principal features.[1,2] The prevalenceranging from 50 to 300 cases per 1 million persons with women are at much higher risk. The average age of diagnosis is the fifth decades of life.[2] There is no cure for scleroderma, but many of its problems and complications can be treated.[3-7]A 54-year-old female patient with main complains limitation of motion and mouth, stiffness and painful joints in the hands and feet, thickening on the skin in the chest and trunk for eight years, purplish red spots on arms and legs intermittent for tenyears. On physical examination found sclerosis lesions, sclerodactyly on fingers and toes, telangiectasias in the antebrachii and cruris region. On laboratory, examination showed ANA test 10.7 and Anti DS DNA 123. The histopathological of the skin result is scleroderma. The patient was diagnosed with scleroderma and treated with methotrexate 7.5 mg/weeks, ciclosporin 2×100 mg/day, omeprazole 2×20 mg. After seven days of therapy, there is aclinical improvement, and the patient becomes anoutpatient treatment.

  15. [Gold salt alveolitis in 3 patients with rheumatoid arthritis].

    Science.gov (United States)

    Music, E; Tomsic, M; Logar, D

    1995-06-01

    When the characteristic symptoms for an interstitial pulmonary disease arise in patients with rheumatoid arthritis, a drug-induced alveolitis should be considered in the differential diagnosis. In such cases, the administration of the drug and gold salts should be stopped. The cases of three patients with rheumatoid arthritis (RA) who had been treated with gold salts for 2 months (A), 23 months (B), and 36 months (C) are presented. The total dose of sodium aureothiomalate amounted to 280 mg for patient A, 1150 mg for patient B, and 2190 mg for patient C. Clinical signs, X-rays of the lungs, pulmonary function tests, and laboratory tests were evaluated for the three patients while, for patient A BAL as well as provocation tests were additionally performed before and after therapy. In this case, the histological picture of the lungs is presented; biopsies were taken during the first BAL. The clinical complaints of all 3 patients were similar, with the alveolitis being observed as diffuse in one case and above all in the upper regions in two cases on radiology. This led to differing degrees of diffusion disorders in the lungs. In patient A, the diagnosis was made in the stage of progressive fibrotic alveolitis and was treated with D-penicillamine. All 3 patients received steroids over 3-6 months and the gold salts were stopped. Because of the long duration and doubtful differential diagnosis for patient A with either rheumatoid lung or gold salt alveolitis, a provocation test with sodium aureothiomalate was performed. All 3 patients had blood eosinophilia while, in case A, a thrombopenia was also found. A gold salt alveolitis can occur as a side effect of gold salts in addition to skin vasculitis and hematological disorders. When the gold salt administration is not stopped a fibrotic alveolitis can develop. The provocation test can be diagnostically useful to distinguish between a rheumatoid lung and gold salt alveolitis.

  16. [When thinking to scleroderma?].

    Science.gov (United States)

    Cogan, E

    2007-09-01

    Scleroderma encompasses an heterogeneous group of autoimmune disorders characterized by an hidebound thickened skin involvement. When the changes are limited to the skin, localized scleroderma is suspected. Although the latter is most often a benign disease, it may be exceptionally associated with involvement of multiple organs, mainly the neurological system. At the opposite, systemic sclerosis is a serious disorder associated with high morbidity and even mortality and defined by an extended skin sclerosis, multiple organ involvement and general symptoms. Raynaud phenomena is nearly always present at the beginning of the disease. Identifying initial manifestations of the disease (Raynaud phenomena, diffuse non pitting edema, symmetrical polyarthritis with tendon friction rubs, dysphagia associated with mucosal telangiectasia) may allow the clinician to rapidly transfer the patient to a specialized reference center in order to organize a multidisciplinary approach and to prompt optimum therapy.

  17. [Extrinsic allergic alveolitis (extrinsic allergic broncho- alveolitis, pneumopathies with precipitins, hypersensitivity pneumopathies)].

    Science.gov (United States)

    Bonnaud, F

    1986-01-01

    The author does a general survey on this subject. Having evoked the EAA history, he describes the clinical syndrome with 3 forms (sharp to chronic). He relates in a first part, the main forms linked with rural occupation, from farmer's lung disease, the most frequent, to illnesses dues to cereals, woods exposition, then the one in touch with industry as coffee workers disease, and breeders of silkworms. At last, the ones in connection with urban activities as air-conditioner disease. These descriptions ended with EAA caused by a drug. Having evoked the complementary investigations necessary for diagnosis, he insists on the alveolitis washing and biochemicals studies. In conclusion, the author insists on the interest of steroids treatment in attacks.

  18. Scleroderma, Stress and CAM Utilization

    Directory of Open Access Journals (Sweden)

    Ka-Kit Hui

    2009-01-01

    Full Text Available Scleroderma is an autoimmune disease influenced by interplay among genetic and environmental factors, of which one is stress. Complementary and alternative medicine (CAM is frequently used to treat stress and those diseases in which stress has been implicated. Results are presented from a survey of patients with scleroderma. Respondents were a convenient sample of those attending a national conference in Las Vegas in 2002. Findings implicate stress in the onset, continuation and exacerbation of scleroderma. The implication is that CAM providers may be filling an important patient need in their provision of services that identify and treat stress and its related disorders.

  19. A photosynthetic alveolate closely related to apicomplexan parasites

    Czech Academy of Sciences Publication Activity Database

    Moore, R. B.; Oborník, Miroslav; Janouškovec, Jan; Chrudimský, Tomáš; Vancová, Marie; Green, D. H.; Wright, S. W.; Davies, N. W.; Bolch, Ch. J. S.; Heimann, K.; Šlapeta, J.; Hoegh-Guldberg, O.; Logsdon, J. M.; Carter, D. A.

    2008-01-01

    Roč. 451, 21-02-2008 (2008), s. 959-963 ISSN 0028-0836 R&D Projects: GA ČR GA206/06/1439 Institutional research plan: CEZ:AV0Z60220518 Keywords : alveolate * photosynthesis * Chromera velia * evolution * Apicomplexa Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 31.434, year: 2008

  20. Localized scleroderma: imaging features

    International Nuclear Information System (INIS)

    Liu, P.; Uziel, Y.; Chuang, S.; Silverman, E.; Krafchik, B.; Laxer, R.

    1994-01-01

    Localized scleroderma is distinct from the diffuse form of scleroderma and does not show Raynaud's phenomenon and visceral involvement. The imaging features in 23 patients ranging from 2 to 17 years of age (mean 11.1 years) were reviewed. Leg length discrepancy and muscle atrophy were the most common findings (five patients), with two patients also showing modelling deformity of the fibula. One patient with lower extremity involvement showed abnormal bone marrow signals on MR. Disabling joint contracture requiring orthopedic intervention was noted in one patient. In two patients with ''en coup de sabre'' facial deformity, CT and MR scans revealed intracranial calcifications and white matter abnormality in the ipsilateral frontal lobes, with one also showing migrational abnormality. In a third patient, CT revealed white matter abnormality in the ipsilateral parietal lobe. In one patient with progressive facial hemiatrophy, CT and MR scans showed the underlying hypoplastic left maxillary antrum and cheek. Imaging studies of areas of clinical concern revealed positive findings in half our patients. (orig.)

  1. Localized scleroderma: imaging features

    Energy Technology Data Exchange (ETDEWEB)

    Liu, P. (Dept. of Diagnostic Imaging, Hospital for Sick Children, Toronto, ON (Canada)); Uziel, Y. (Div. of Rheumatology, Hospital for Sick Children, Toronto, ON (Canada)); Chuang, S. (Dept. of Diagnostic Imaging, Hospital for Sick Children, Toronto, ON (Canada)); Silverman, E. (Div. of Rheumatology, Hospital for Sick Children, Toronto, ON (Canada)); Krafchik, B. (Div. of Dermatology, Dept. of Pediatrics, Hospital for Sick Children, Toronto, ON (Canada)); Laxer, R. (Div. of Rheumatology, Hospital for Sick Children, Toronto, ON (Canada))

    1994-06-01

    Localized scleroderma is distinct from the diffuse form of scleroderma and does not show Raynaud's phenomenon and visceral involvement. The imaging features in 23 patients ranging from 2 to 17 years of age (mean 11.1 years) were reviewed. Leg length discrepancy and muscle atrophy were the most common findings (five patients), with two patients also showing modelling deformity of the fibula. One patient with lower extremity involvement showed abnormal bone marrow signals on MR. Disabling joint contracture requiring orthopedic intervention was noted in one patient. In two patients with ''en coup de sabre'' facial deformity, CT and MR scans revealed intracranial calcifications and white matter abnormality in the ipsilateral frontal lobes, with one also showing migrational abnormality. In a third patient, CT revealed white matter abnormality in the ipsilateral parietal lobe. In one patient with progressive facial hemiatrophy, CT and MR scans showed the underlying hypoplastic left maxillary antrum and cheek. Imaging studies of areas of clinical concern revealed positive findings in half our patients. (orig.)

  2. Surgical Management of Localized Scleroderma.

    Science.gov (United States)

    Lee, Jae Hyun; Lim, Soo Yeon; Lee, Jang Hyun; Ahn, Hee Chang

    2017-09-01

    Localized scleroderma is characterized by a thickening of the skin from excessive collagen deposits. It is not a fatal disease, but quality of life can be adversely affected due to changes in skin appearance, joint contractures, and, rarely, serious deformities of the face and extremities. We present six cases of localized scleroderma in face from our surgical practice. We reviewed six localized scleroderma cases that were initially treated with medication and then received follow-up surgery between April 2003 and February 2015. Six patients had facial lesions. These cases presented with linear dermal sclerosis on the forehead, oval subcutaneous and dermal depression in the cheek. En coup de sabre (n=4), and oval-shaped lesion of the face (n=2) were successfully treated. Surgical methods included resection with or without Z-plasty (n=3), fat graft (n=1), dermofat graft (n=1), and adipofascial free flap (n=1). Deformities of the affected parts were surgically corrected without reoccurrence. We retrospectively reviewed six cases of localized scleroderma that were successfully treated with surgery. And we propose an algorithm for selecting the best surgical approach for individual localized scleroderma cases. Although our cases were limited in number and long-term follow-up will be necessary, we suggest that surgical management should be considered as an option for treating scleroderma patients.

  3. International Team Identifies Biomarker for Scleroderma

    Science.gov (United States)

    ... Spotlight on Research International Team Identifies Biomarker for Scleroderma By Kirstie Saltsman, Ph.D. | May 5, 2014 ... molecule correlates with a more severe form of scleroderma, a chronic autoimmune disorder that involves the abnormal ...

  4. BILATERAL CHOROIDAL EXCAVATION IN JUVENILE LOCALIZED SCLERODERMA.

    Science.gov (United States)

    Franklin, Mackenzie L; Day, Shelley

    2018-01-01

    To describe a case of bilateral choroidal excavation in a patient with juvenile localized scleroderma. Case report. An asymptomatic 12-year-old boy with localized scleroderma presented for examination and was found to have bilateral areas of choroidal excavation temporal to the fovea. Previous reports of ocular complications of localized scleroderma have primarily described adnexal and anterior segment changes. This is the second report of choroidal changes in a patient with localized scleroderma, and the first in a pediatric patient.

  5. [Microstomia as a complication of scleroderma

    NARCIS (Netherlands)

    Phoa, K.H.; Baat, P. de; Baat, C. de

    2003-01-01

    Scleroderma is a rare connective tissue disease of unknown origin. It is characterized by increased collagen deposition leading to fibrosis and degeneration of the skin and sometimes of internal organs. There are two main groups of scleroderma: circumscribed scleroderma and systemic sclerosis.

  6. [Nodules on localized scleroderma or morphea].

    Science.gov (United States)

    Bayle, P; Bazex, J; Marguery, M-C; Lamant, L

    2005-02-01

    Localized scleroderma or morphea usually appears as flat or depressed lesions. We report 3 cases of morphea with atypical appearance, alternating pigmented and depigmented patches with nodules or sclerous bands, occurring in adult men. The occurrence of nodular elements on generalized or localized scleroderma, although rare, was first reported in the literature by Addisson in 1884. These nodules usually appear during evolution. These scleroderma are then described as being keloidal or nodular. We report 3 cases of nodules on localized scleroderma which appeared at the beginning of the dermatosis and where the scleroderma had a similar unusual irregularly pigmented appearance.

  7. Infliximab-associated alveolitis after treatment for severe left-sided ulcerative colitis.

    LENUS (Irish Health Repository)

    Veerappan, Sundaram G

    2012-02-01

    Here we describe a patient with ulcerative colitis who developed alveolitis after infliximab therapy. With earlier case reports of development of alveolitis in rheumatoid arthritis patients after infliximab infusion, the temporal relationship between the infliximab therapy and the development of alveolitis in this case, raises the possibility that the two might be causally related. With an increasing trend towards treating moderate to severely active ulcerative colitis patients with infliximab as a rescue therapy, clinicians should be aware of this potentially serious complication.

  8. Preparation of alveolate hydrophobic catalyst for tritium waste gas treatment

    International Nuclear Information System (INIS)

    Yang, Yong; Peng, Shuming; Wang, Heyi; Du, Yang; Li, Jiamao

    2016-01-01

    Highlights: • The catalyst is hydrophobic, it will not be poisoned by steam in room air at room temperature which is better than Pt-Al 2 O 3 . • At room temperature, the conversion of low concentration of H2 and tritium gas in room air over the catalyst is high. • The air resistance of catalyst is much lower than graininess Pt-Al 2 O 3 . • It is inorganic and will not burn. - Abstract: To prepare a catalyst for the detritiation of waste gases at high flow rates, a heat-resistant hydrophobic zeolitic molecular sieve coating was synthesized on the surface of alveolate cordierite by hydrothermal processing. The alveolate hydrophobic catalyst prepared from the support was essentially waterproof and not easily poisoned by moisture. At room temperature, the conversion of low concentrations of H 2 in humid air over the catalyst was higher than 95% at different space velocities (0–16,000 h −1 ) and different relative humidities. The reaction rate constant of the oxidation of tritium over alveolate hydrophobic catalyst is 0.182 s −1 at 293.3 K–293.7 K and 59%–60% RH, it is much higher than the catalyst of reference honeycomb catalyst.

  9. STRESS DISTRIBUTION IN THE STRATIFIED MASS CONTAINING VERTICAL ALVEOLE

    Directory of Open Access Journals (Sweden)

    Bobileva Tatiana Nikolaevna

    2017-08-01

    Full Text Available Almost all subsurface rocks used as foundations for various types of structures are stratified. Such heterogeneity may cause specific behaviour of the materials under strain. Differential equations describing the behaviour of such materials contain rapidly fluctuating coefficients, in view of this, solution of such equations is more time-consuming when using today’s computers. The method of asymptotic averaging leads to getting homogeneous medium under study to averaged equations with fixed factors. The present article is concerned with stratified soil mass consisting of pair-wise alternative isotropic elastic layers. In the results of elastic modules averaging, the present soil mass with horizontal rock stratification is simulated by homogeneous transversal-isotropic half-space with isotropy plane perpendicular to the standing axis. Half-space is loosened by a vertical alveole of circular cross-section, and virgin ground is under its own weight. For horizontal parting planes of layers, the following two types of surface conditions are set: ideal contact and backlash without cleavage. For homogeneous transversal-isotropic half-space received with a vertical alveole, the analytical solution of S.G. Lekhnitsky, well known in scientific papers, is used. The author gives expressions for stress components and displacements in soil mass for different marginal conditions on the alveole surface. Such research problems arise when constructing and maintaining buildings and when composite materials are used.

  10. Comparing ultraviolet light A photo(chemo)therapy with Methotrexate protocol in childhood localized scleroderma: Evidence from systematic review and meta-analysis approach.

    Science.gov (United States)

    Marrani, Edoardo; Foeldvari, Ivan; Lopez, Jordi Anton; Cimaz, Rolando; Simonini, Gabriele

    2018-03-14

    Localized scleroderma is a skin fibrosing disorder that, if untreated, may result in severe disability. The purpose of this systematic review is to compare the present evidence concerning the effectiveness of Methotrexate versus phototherapy, alone or associated with Psoralen, in childhood localized scleroderma. A systematic search between January 1996 and May 2017 was performed to identify studies investigating the efficacy of Methotrexate (MTX) or phototherapy (UVA) for treating localized scleroderma with onset ≤18 years. Due to a lack of validated clinical criteria, four clinical response criteria were used to assess the treatment efficacy as primary outcome. We determined a combined estimate of the proportion of children responding to MTX and UVA. A total of 19 studies was included (8 MTX; 11 UVA). In the methotrexate group, 193 children were included in the analysis; in the phototherapy group, a total of 48 treated children. For both groups age, disease subtype, glucocorticoids (GCs) use, and side effects of treatment were also analyzed. The meta-analysis suggested that UVA and MTX protocols have both a favorable effect in active lesions of childhood localized scleroderma. However, MTX resulted significantly superior to UVA, with or without Psoralen. Our study supports the combination of MTX and GCs in patients with a high risk of complication. Phototherapy with UVA1 could represent a therapeutic option in patients with limited scleroderma, where lesions do not cross joints and they do not lead to potential cosmetic changes. Copyright © 2018 Elsevier Inc. All rights reserved.

  11. Corticosteroids in Myositis and Scleroderma

    Science.gov (United States)

    Postolova, Anna; Chen, Jennifer K; Chung, Lorinda

    2017-01-01

    Synopsis Idiopathic inflammatory myopathies (IIM) involve inflammation of the muscles and are classified based on the patterns of presentation and immunohistopathologic features on skin and muscle biopsy into four categories: dermatomyositis, polymyositis, inclusion body myositis, and immune mediated necrotizing myopathy. The term “scleroderma” refers to fibrosis of the skin. Localized scleroderma (morphea) is skin-limited, while systemic sclerosis (SSc) is associated with vascular and internal organ involvement. Although there is a paucity of randomized clinical trials, treatment with systemic corticosteroids (CS) is the standard of care for IIM with muscle and organ involvement. The extra-cutaneous features of systemic sclerosis are frequently treated with CS, however high doses have been associated with scleroderma renal crisis in high-risk patients. CS monotherapy is neither recommended for the cutaneous manifestations of dermatomyositis nor scleroderma. While CS can be effective first line agents, their significant side effect profile encourages concomitant treatment with other immunosuppressive medications to enable timely tapering. PMID:26611554

  12. [Localized scleroderma (morphea)].

    Science.gov (United States)

    Bono, Waafa; Dupin, Nicolas

    2006-12-01

    DEFINITION AND FREQUENCY: Localized scleroderma, also known as morphea, is a sclerotic condition limited to the skin. The specific clinical entity depends on the extent, linear disposition and depth of the lesions. Morphea is ten times more prevalent than systemic sclerosis, and its prognosis is generally good: superficial forms resolve within 3 years. In the absence of symptoms, examinations to detect systemic involvement are purposeless. Plaque morphea is the most frequent clinical presentation. Serious manifestations include extensive morphea that may involve the entire skin or linear forms, especially in children, where they may be severe, especially on the face. There are no immunological markers clearly associated with morphea and no causative agents have been implicated in its pathogenesis, although sclerodermiform dermatitis is reported to be associated with some drugs and toxic agents. There is no consensual treatment for morphea. Treatment should be decided according to severity and extent of lesions. Limited lesions may be treated with local steroids such as class IV corticosteroids. Systemic treatment (methotrexate) should be discussed in extensive and linear forms when there is a risk of functional or esthetic complications.

  13. Molecular Targets for the Treatment of Fibrosing Cholangiopathies

    NARCIS (Netherlands)

    Maillette de Buy Wenniger, L. J.; Oude Elferink, R. P.; Beuers, U.

    2012-01-01

    Emerging pathophysiologic insights are leading to novel approaches to treating fibrosing cholangiopathies. The current treatment, using ursodeoxycholic acid (UDCA), may slow the progression of some chronic cholangiopathies but cannot heal them. Apart from immunosuppressive interventions aimed at

  14. Localized scleroderma of the breast

    International Nuclear Information System (INIS)

    Opere, Elisa; Oleaga, Laura; Ibanez, Teresa; Grande, Domingo

    2002-01-01

    We report a 44-year-old patient with right-breast morphea. Mammography, MRI and needle biopsy were used for assessment of the case. Mammography demonstrated thickening of the skin and the subcutaneous tissue. The MRI showed replacement of the subcutaneous and breast fat by a low signal intensity, non-enhancing tissue. Skin biopsy confirmed the histological features of scleroderma. (orig.)

  15. [Localized scleroderma (morphea) in childhood].

    Science.gov (United States)

    Weibel, L

    2012-02-01

    Localized scleroderma or morphea is a sclerosing connective tissue disease of the skin, which may affect underlying tissues such as subcutis, muscle and bone. Many patients show extracutaneous symptoms and antinuclear antibodies, however, secondary transformation into systemic sclerosis does not occur. Localized scleroderma usually begins in childhood with a wide variation in its clinical spectrum. The linear variant is the most common subtype in children, associated with a progressive course and increased risk of complications. The disease may progress over years and result in severe functional and cosmetic disability. The etiology of localized scleroderma remains unknown. A genetic background is suspected, while triggers such as trauma, vaccinations and infections may lead to secondary immunologic phenomena. Localized scleroderma often remains unrecognized for a long time, resulting in substantial delay in treatment. The combination of systemic corticosteroids and methotrexate has been established as first-line therapy for progressive (usually linear) disease, whereas phototherapy (UVA-1 or UVB-narrow band) is suitable for adolescents with superficial circumscribed subtypes.

  16. Localized scleroderma of the breast

    Energy Technology Data Exchange (ETDEWEB)

    Opere, Elisa; Oleaga, Laura; Ibanez, Teresa; Grande, Domingo [Department of Radiology, Hospital de Basurto, Bilbao (Spain)

    2002-06-01

    We report a 44-year-old patient with right-breast morphea. Mammography, MRI and needle biopsy were used for assessment of the case. Mammography demonstrated thickening of the skin and the subcutaneous tissue. The MRI showed replacement of the subcutaneous and breast fat by a low signal intensity, non-enhancing tissue. Skin biopsy confirmed the histological features of scleroderma. (orig.)

  17. Localized scleroderma: clinical spectrum and therapeutic update.

    Science.gov (United States)

    Careta, Mariana Figueiroa; Romiti, Ricardo

    2015-01-01

    Scleroderma is a rare connective tissue disease that is manifested by cutaneous sclerosis and variable systemic involvement. Two categories of scleroderma are known: systemic sclerosis, characterized by cutaneous sclerosis and visceral involvement, and localized scleroderma or morphea which classically presents benign and self-limited evolution and is confined to the skin and/or underlying tissues. Localized scleroderma is a rare disease of unknown etiology. Recent studies show that the localized form may affect internal organs and have variable morbidity. Treatment should be started very early, before complications occur due to the high morbidity of localized scleroderma. In this review, we report the most important aspects and particularities in the treatment of patients diagnosed with localized scleroderma.

  18. Localized scleroderma: clinical spectrum and therapeutic update*

    Science.gov (United States)

    Careta, Mariana Figueiroa; Romiti, Ricardo

    2015-01-01

    Scleroderma is a rare connective tissue disease that is manifested by cutaneous sclerosis and variable systemic involvement. Two categories of scleroderma are known: systemic sclerosis, characterized by cutaneous sclerosis and visceral involvement, and localized scleroderma or morphea which classically presents benign and self-limited evolution and is confined to the skin and/or underlying tissues. Localized scleroderma is a rare disease of unknown etiology. Recent studies show that the localized form may affect internal organs and have variable morbidity. Treatment should be started very early, before complications occur due to the high morbidity of localized scleroderma. In this review, we report the most important aspects and particularities in the treatment of patients diagnosed with localized scleroderma. PMID:25672301

  19. Alveolitis seca: una revisión de la literatura

    OpenAIRE

    Vergara Buenaventura, Andrea

    2014-01-01

    La alveolitis seca es la complicación posoperatoria más frecuente como resultado de la alteración en la cicatrización de la herida alveolar después de una extracción dental. El manejo de esta afección tiene por objetivo el control del dolor durante el periodo de curación del cuadro, lo cual se logra fundamentalmente mediante medidas paliativas. El objetivo de esta revisión de la literatura es obtener suficiente información sobre las causas y otros factores que podrían estar involucrados en es...

  20. Alveolitis seca: una revisión de la literatura

    OpenAIRE

    Andrea Vergara Buenaventura

    2014-01-01

    La alveolitis seca es la complicación posoperatoria más frecuente como resultado de la alteración en la cicatrización de la herida alveolar después de una extracción dental. El manejo de esta afección tiene por objetivo el control del dolor durante el periodo de curación del cuadro, lo cual se logra fundamentalmente mediante medidas paliativas. El objetivo de esta revisión de la literatura es obtener suficiente información sobre las causas y otros factores que podrían estar involucrados en...

  1. Mycobacterium intracellulare Infection Mimicking Progression of Scleroderma

    DEFF Research Database (Denmark)

    Krabbe, Simon; Engelhart, Merete; Thybo, Sören

    2017-01-01

    This case report describes a patient with scleroderma who developed Mycobacterium intracellulare infection, which for more than a year mimicked worsening of her connective tissue disorder. The patient was diagnosed with scleroderma based on puffy fingers that developed into sclerodactyly, abnormal......, unfortunately with significant scarring. Immunodeficiency testing was unremarkable. In summary, an infection with Mycobacterium intracellulare was mistaken for an unusually severe progression of scleroderma....

  2. Localized scleroderma and regional inflammatory myopathy.

    Science.gov (United States)

    Zivković, Saša A; Freiberg, William; Lacomis, David; Domsic, Robyn T; Medsger, Thomas A

    2014-05-01

    Inflammatory myopathy is rare in localized scleroderma. We report 2 new cases of regional inflammatory myopathy associated with localized scleroderma and review 10 reported cases of localized scleroderma associated with an inflammatory myopathy with regional muscle involvement, more often in the upper extremities. Serum creatine kinase was mildly elevated or normal. Histopathology often showed perimysial inflammation and plasma cell infiltration. These cases demonstrate that inflammatory myopathy should be considered in patients with localized scleroderma and regional muscle weakness, pain or atrophy. Muscle biopsy can confirm the diagnosis of myositis, which if identified, will require anti-inflammatory and/or immunosuppressive therapy. Published by Elsevier B.V.

  3. Scleroderma mimicker – Eosinophilic fasciitis

    Directory of Open Access Journals (Sweden)

    Debanjali Sinha

    2017-01-01

    Full Text Available Eosinophilic fasciitis is an uncommon connective tissue disorder characterized by thickening of the deep fascia and overlying skin and subcutaneous tissue. It may mimic scleroderma and other scleroderma-like conditions. It may be a manifestation of paraneoplastic disorders or may be associated with hematological disorders including lymphomas. Definitive diagnosis is made on histological examination of a deep skin biopsy revealing thickened deep fascia and infiltration by lymphocytes and eosinophils. Enhancement of deep fascia on Gadolinium contrast-enhanced magnetic resonance imaging may be used as a substitute for skin biopsy. Ultrasound imaging is an evolving imaging tool for diagnosing it. Glucocorticoids with or without immunosuppressive agents remains the mainstay of therapy with good response, generally. A younger age of onset, morphea like lesions and dermal fibrosclerosis is more likely to be associated with the refractory disease. Early diagnosis and appropriate treatment may result in better outcomes in terms of morbidity and quality of life of the patients.

  4. Localized Scleroderma: A Clinical Review.

    Science.gov (United States)

    Tratenberg, Mark; Gutwein, Farrah; Rao, Varuni; Sperber, Kirk; Wasserrman, Amy; Ash, Julia

    2017-01-01

    Localized scleroderma (LS) is characterized by excessive collagen deposition leading to thickening of the dermis, subcutaneous tissue or both. The outcome for most patients with localized scleroderma is directly related to the type and stage of the affected tissue. The major challenge for untreated patients is not increased mortality risk, rather deformity and growth defects from skin, muscle and bone abnormalities. Treatment is individualized to type and stage of the lesion and may include pharmacologic and non-pharmacologic therapies. Among the pharmacologic modalities, methotrexate with systemic glucocorticoids is currently the mainstay of treatment. More controlled trials are needed to determine the length of treatment and the maintenance dose of this combination therapy. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  5. Tuberculosis-associated Fibrosing Mediastinitis: Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Ronald Tan

    2016-01-01

    Full Text Available Fibrosing mediastinitis is a rare condition defined by the presence of fibrotic mediastinal infiltrates that obliterate normal fat planes. It is a late complication of a previous granulomatous infection, such as histoplasmosis or tuberculosis (TB. Due to its rarity, fibrosing mediastinitis is often under-recognized, and the clinical presentation is variable and dependent on the extent of infiltration or encasement of structures within the mediastinum. We present a case of fibrosing mediastinitis in a man with a prior history of TB, who presented with progressive dyspnea and was found to have chronic mediastinal soft tissue opacities and pulmonary hypertension. His diagnosis was delayed due to the lack of recognition of this clinical/radiographic entity. Fibrosing mediastinitis is a rare entity usually caused by granulomatous disease. Most cases develop as a late complication of histoplasmosis or TB. The presence of calcified mediastinal soft tissue infiltrates on advanced chest imaging can be diagnostic of fibrosing mediastinitis in patients with a prior history of a granulomatous infection once active processes such as malignancy are excluded.

  6. Tuberculosis-associated Fibrosing Mediastinitis: Case Report and Literature Review.

    Science.gov (United States)

    Tan, Ronald; Martires, Joanne; Kamangar, Nader

    2016-01-01

    Fibrosing mediastinitis is a rare condition defined by the presence of fibrotic mediastinal infiltrates that obliterate normal fat planes. It is a late complication of a previous granulomatous infection, such as histoplasmosis or tuberculosis (TB). Due to its rarity, fibrosing mediastinitis is often under-recognized, and the clinical presentation is variable and dependent on the extent of infiltration or encasement of structures within the mediastinum. We present a case of fibrosing mediastinitis in a man with a prior history of TB, who presented with progressive dyspnea and was found to have chronic mediastinal soft tissue opacities and pulmonary hypertension. His diagnosis was delayed due to the lack of recognition of this clinical/radiographic entity. Fibrosing mediastinitis is a rare entity usually caused by granulomatous disease. Most cases develop as a late complication of histoplasmosis or TB. The presence of calcified mediastinal soft tissue infiltrates on advanced chest imaging can be diagnostic of fibrosing mediastinitis in patients with a prior history of a granulomatous infection once active processes such as malignancy are excluded.

  7. Genetics Home Reference: hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis

    Science.gov (United States)

    ... Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis Printable PDF Open All Close All Enable Javascript ... Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary ... Lung, and Blood Institute (NHLBI): Pulmonary Function Tests National ...

  8. Scleroderma in children: an update.

    Science.gov (United States)

    Zulian, Francesco; Cuffaro, Giorgio; Sperotto, Francesca

    2013-09-01

    Scleroderma, in its localized and systemic presentation, represents the third most frequent rheumatic condition in childhood after juvenile idiopathic arthritis and systemic lupus erythematosus. Early diagnosis, appropriate assessment and effective treatment are crucial to improve the long-term outcome. Recent studies, concerning histopathology and clinical associations with other conditions, open new horizons on the etiopathogenesis of scleroderma. New developments have been also reached in the field of outcome measures. In juvenile localized scleroderma (JLS), new techniques such as Doppler and laser Doppler imaging have shown their usefulness for the daily monitoring of the patients. In juvenile systemic sclerosis (JSSc), a new severity score has been developed and needs to be validated in future trials. Finally, a randomized, double-blind controlled trial, a multicenter consensus statement and long-term follow-up studies have confirmed the important role of methotrexate (MTX) for the treatment of JLS. Studies over recent years highlighted the role of imaging as outcome measures for JLS and introduced a severity score for JSSc. New studies on MTX confirmed its important role for the treatment of JLS.

  9. Fibrosing Mediastinitis: Successful Stenting of the Pulmonary Artery

    Directory of Open Access Journals (Sweden)

    Rennae Thiessen

    2008-01-01

    Full Text Available Fibrosing mediastinitis is a rare benign condition, which can cause compression of the pulmonary or systemic vessels, tracheobronchial tree, coronary arteries or esophagus, leading to disabling clinical symptoms and even death. The case of a 26-year-old woman who presented with dyspnea is described. She was found to have 80% stenosis of the right pulmonary artery secondary to fibrosing mediastinitis. The stenosis was managed successfully with an endovascular Palmaz-Schatz stent, and the patient remains symptom-free 10 years later.

  10. Idiopathic fibrosing pancreatitis: A cause of obstructive jaundice in childhood

    International Nuclear Information System (INIS)

    Atkinson, G.O. Jr.; Wyly, J.B.; Gay, B.B. Jr.; Ball, T.I.; Winn, K.J.

    1988-01-01

    Idiopathic fibrosing pancreatitis is a chronic process of unknown etiology characterized by extensive infiltration of the pancreatic parenchyma by fibrous tissue. This disease process is uncommon in the pediatric patient and is consequently rarely considered in the differential diagnosis of abdominal pain and jaundice in the child. The sonographic demonstration of a dilated biliary tree and common bile duct compressed by an enlarged pancreas may be the first suggestion of this entity. Two patients with idiopathic fibrosing pancreatitis and obstructive jaundice are reported with a review of the clinical, radiographic, and pathologic findings. (orig.)

  11. Idiopathic fibrosing pancreatitis: A cause of obstructive jaundice in childhood

    Energy Technology Data Exchange (ETDEWEB)

    Atkinson, G.O. Jr.; Wyly, J.B.; Gay, B.B. Jr.; Ball, T.I.; Winn, K.J.

    1988-01-01

    Idiopathic fibrosing pancreatitis is a chronic process of unknown etiology characterized by extensive infiltration of the pancreatic parenchyma by fibrous tissue. This disease process is uncommon in the pediatric patient and is consequently rarely considered in the differential diagnosis of abdominal pain and jaundice in the child. The sonographic demonstration of a dilated biliary tree and common bile duct compressed by an enlarged pancreas may be the first suggestion of this entity. Two patients with idiopathic fibrosing pancreatitis and obstructive jaundice are reported with a review of the clinical, radiographic, and pathologic findings.

  12. CT and HR-CT of exogenous allergic alveolitis

    International Nuclear Information System (INIS)

    Lederer, A.; Kullnig, P.; Pongratz, M.

    1992-01-01

    The CT changes on conventional and high resolution CT in 14 patients with exogeneous allergic alveolitis (EAA) were analysed retrospectively. There were 8 patients with clinically subacute disease, 5 patients in a chronic stage and 1 patient with acute EAA. The appearances and their distribution were examined. Seven of the 8 patients in the subacute stage showed a ground glass pattern and multiple nodules of less than 2 mm. All patients in the chronic stage showed a combination of fine infiltrates, small nodules and irregular linear densities; distortion of the pulmonary pattern was present in 3 cases. The patient with acute EAA showed diffuse dense areas of consolidation in both lungs as well as multiple nodules and a ground glass pattern. The CT appearances of EAA correspond with the basic micropathology and, within the clinical context, permit diagnostic classification. (orig.) [de

  13. Corticosteroids in Myositis and Scleroderma.

    Science.gov (United States)

    Postolova, Anna; Chen, Jennifer K; Chung, Lorinda

    2016-02-01

    Idiopathic inflammatory myopathies (IIMs) involve inflammation of the muscles and are classified by the patterns of presentation and immunohistopathologic features on skin and muscle biopsy into 4 categories: dermatomyositis, polymyositis, inclusion body myositis, and immune-mediated necrotizing myopathy. Systemic corticosteroid (CS) treatment is the standard of care for IIM with muscle and organ involvement. The extracutaneous features of systemic sclerosis are frequently treated with CS; however, high doses have been associated with scleroderma renal crisis in high-risk patients. Although CS can be effective first-line agents, their significant side effect profile encourages concomitant treatment with other immunosuppressive medications to enable timely tapering. Published by Elsevier Inc.

  14. Biomarkers in scleroderma: Current status

    Directory of Open Access Journals (Sweden)

    Latika Gupta

    2017-01-01

    Full Text Available Scleroderma is an autoimmune disease characterized by indolent obliterative vasculopathy and widespread fibrosis. The two main morphological manifestations of the disease overlap and may make it difficult to separate activity from damage. Many patients, especially those with the limited subset of the disease, have an indolent course without clear-cut inflammatory manifestations. There is a felt need for validated biomarkers, which can differentiate activity from damage, and yet be sensitive to change with therapy. Multiplex arrays of biomarkers have ushered an era of targeted or personalized medicine based on phenotypic characteristics in an individual.

  15. Esophagectomy in Scleroderma: Report of a Case

    Directory of Open Access Journals (Sweden)

    Erdal Yekeler

    2008-12-01

    Full Text Available Scleroderma is a generalized autoimmune disease with variable involvement of the skin and major organs (esophagus, lung, heart and kidney. Scleroderma is essentially a skin disease that frequently involves the digestive system. In scleroderma, the esophagus is the most frequently affected organ of the digestive system, and esophageal dysmotility, reflux and stricture may be observed in the advanced stage. Balloon dilatation and bougienage are generally sufficient in patients developing stricture, and the number of cases in whom resection is performed is very low. In a 20-year-old patient with difficulty in taking even liquid foods, tests revealed sclerodermal involvement of the distal end of the esophagus and stricture. Esophageal resection and gastric replacement were performed. Such systemic diseases as scleroderma, although rare, must be considered in the differential diagnosis of nonmalignant dysphagia, and resection must be borne in mind as a surgical option in cases of advanced stricture.

  16. Paraneoplastic Scleroderma: Are There Any Clues?

    Science.gov (United States)

    Jedlickova, Hana; Durčanská, Veronika; Vašků, Vladimír

    2016-04-01

    Dear Editor, Scleroderma associated with neoplasia is rare, with only a small number of cases reported. We describe 4 patients with paraneoplastic scleroderma who were treated at the I. Department of Dermatovenereology, St. Anna Hospital, during the period between 2004 and 2014. The patients were diagnosed with cholangiogenic carcinoma, endometrial carcinoma, prostatic adenocarcinoma, and adenoma of the suprarenal gland. In the case of concurrent scleroderma and tumor, four situations may occur: they can develop independently of each other; scleroderma may be induced by the tumor; the tumor can develop in the scleroderma; or the tumor can be induced by immunosuppressive therapy. Sclerotization of the skin was described in association with lung cancer, carcinoid, plasma cell dyscrasia, cancer of the ovary, cervix, breast, esophagus, stomach, nasopharynx, melanoma, and sarcoma (1,2,5,7,10). Symptoms may be induced by substances secreted by the tumor (hormones, cytokines, etc.) (9). Tumorous cells further induce cytotoxic and autoantibody response. Scleroderma is characterized by immunological dysregulation, vasculopathy, and hyperproduction of the extracellular matrix by activated fibroblasts. Endothelial, inflammatory, and mesenchymal cells produce cytokines, chemokines, and growth factors e.g. Interleukin-1 (IL1), Interleukin-6 (IL6), tumor necrosis factor alpha (TNF α), collagen alpha 1, connective tissue growth factor (CTGF) (3), and basic fibroblast growth factor (bFGF). This factor is also produced by lung cancer cells (4). The clinical picture of scleroderma and paraneoplastic scleroderma is similar. Diffuse thickening of the skin and/or sclerodermatous plaques can be seen. The histological picture is consistent with scleroderma. Capillaroscopy changes, antinuclear antibodies (ANA), sclerodactyly, and Raynaud phenomenon suggest the diagnosis of systemic scleroderma (SS) (4). Our patients did not fulfill enough of the criteria for SS. Both diffuse and

  17. Localized scleroderma: a series of 52 patients.

    Science.gov (United States)

    Toledano, C; Rabhi, S; Kettaneh, A; Fabre, B; Fardet, L; Tiev, K P; Cabane, J

    2009-05-01

    Localized scleroderma also called morphea is a skin disorder of undetermined cause. The widely recognized Mayo Clinic Classification identifies 5 main morphea types: plaque, generalized, bullous, linear and deep. Whether each of these distinct types has a particular clinical course or is associated with some patient-related features is still unclear. We report here a retrospective series of patients with localized scleroderma with an attempt to identify features related to the type of lesion involved. The medical records of all patients with a diagnosis of localized scleroderma were reviewed by skilled practitioners. Lesions were classified according to the Mayo Clinic Classification. The relationship between each lesion type and various clinical features was tested by non-parametrical methods. The sample of 52 patients included 43 females and 9 males. Median age at onset was 30 y (range 1-76). Frequencies of patients according to morphea types were: plaque morphea 41 (78.8%) (including morphea en plaque 30 (57.7%) and atrophoderma of Pasini-Pierini 11 (21.1%)), linear scleroderma 14 (26.9%). Nine patients (17.3%) had both types of localized scleroderma. Median age at onset was lower in patients with linear scleroderma (8 y (range 3-44)) than in others (36 y (range 1-77)) (p=0.0003). Head involvement was more common in patients with linear scleroderma (37.5%) than in other subtypes (11.1%) (p=0.05). Atrophoderma of Pasini-Pierini was never located at the head. Systemic symptoms, antinuclear antibodies and the rheumatic factor were not associated with localized scleroderma types or subtypes. These results suggest that morphea types, in adults are not associated with distinct patient features except for age at disease onset (lower) and the localization on the head (more frequent), in patients with lesions of the linear type.

  18. UVA1 a promising approach for scleroderma

    Science.gov (United States)

    Keyal, Uma; Bhatta, Anil Kumar; Wang, Xiu Li

    2017-01-01

    Scleroderma is a complex connective tissue disease characterized by fibrosis, vasculopathy, and immune system dysfunction. The heterogeneity of disease presentation and poorly understood etiology has made the management of scleroderma difficult. The available treatment options like immunosuppressive agents are associated with potentially hazardous side effects and physiotherapy, which to a certain degree helps to minimize the loss of function in digits and limbs, has only limited success. Also, studies investigating antifibrotic therapies have failed to report any significant improvement. Hence, there is currently no effective therapy for scleroderma. Recently, phototherapy has been extensively studied and found to be effective in treating scleroderma. Initially psoralen + ultraviolet A (PUVA) significantly enriched the therapeutic panel, but more recently ultraviolet A1 (UVA1) is seen to replace PUVA therapy. This might be because of UVA1 therapy being free of side effects seen with psoralens such as nausea, vomiting or photokeratitis. In addition, UVA1 is seen to lower risk of phototoxic reactions with deeper penetration of radiation. The present review will put some light on the use of UVA1 for treating cutaneous lesion in scleroderma and we aim to find the most benefitted group of patients and most effective dose of UVA1 for different types of scleroderma. PMID:28979701

  19. Keloidal Scleroderma: Case Report and Review

    Directory of Open Access Journals (Sweden)

    Sama Kassira

    2015-01-01

    Full Text Available Objective. We report a rare case of keloidal scleroderma and provide an analysis of similar cases. Results. A 41 year-old woman presented with dark brown, indurated, exophytic nodules over the chest along with smaller hyperpigmented plaques scattered over the abdomen, with concomitant sclerodactyly. The clinical, laboratory, and pathological findings were consistent with a diagnosis of keloidal scleroderma. The patient was treated with methotrexate, resulting in reduced firmness of her plaques and no new lesions. A literature review of previously reported cases was performed using keywords including keloidal morphea, keloidal scleroderma, nodular morphea, and nodular scleroderma. In our review, the majority of patients were African American and female. 91% of cases had nodular lesions with distribution on the trunk. The majority of patients exhibited sclerodactyly and pulmonary involvement was reported in 28%1. The majority of patients were ANA positive (63% and only 10% demonstrated anti-SCL-70 positivity. Conclusion. Keloidal scleroderma is a rare presentation, which can often be clinically confused with keloid and scar formation. Due to this being a rare variant, our knowledge of treatment options and efficacy is limited. Methotrexate could be considered as an initial treatment option for patients with progressive keloidal scleroderma.

  20. Distribution and Evolution of Peroxisomes in Alveolates (Apicomplexa, Dinoflagellates, Ciliates)

    Science.gov (United States)

    Ludewig-Klingner, Ann-Kathrin; Michael, Victoria; Jarek, Michael; Brinkmann, Henner

    2018-01-01

    Abstract The peroxisome was the last organelle to be discovered and five decades later it is still the Cinderella of eukaryotic compartments. Peroxisomes have a crucial role in the detoxification of reactive oxygen species, the beta-oxidation of fatty acids, and the biosynthesis of etherphospholipids, and they are assumed to be present in virtually all aerobic eukaryotes. Apicomplexan parasites including the malaria and toxoplasmosis agents were described as the first group of mitochondriate protists devoid of peroxisomes. This study was initiated to reassess the distribution and evolution of peroxisomes in the superensemble Alveolata (apicomplexans, dinoflagellates, ciliates). We established transcriptome data from two chromerid algae (Chromera velia, Vitrella brassicaformis), and two dinoflagellates (Prorocentrum minimum, Perkinsus olseni) and identified the complete set of essential peroxins in all four reference species. Our comparative genome analysis provides unequivocal evidence for the presence of peroxisomes in Toxoplasma gondii and related genera. Our working hypothesis of a common peroxisomal origin of all alveolates is supported by phylogenetic analyses of essential markers such as the import receptor Pex5. Vitrella harbors the most comprehensive set of peroxisomal proteins including the catalase and the glyoxylate cycle and it is thus a promising model organism to investigate the functional role of this organelle in Apicomplexa. PMID:29202176

  1. Presentations and treatment of childhood scleroderma: localized scleroderma, eosinophilic fasciitis, systemic sclerosis, and graft-versus-host disease.

    Science.gov (United States)

    Hedrich, Christian Michael; Fiebig, Barbara; Hahn, Gabriele; Suttorp, Meinolf; Gahr, Manfred

    2011-07-01

    Juvenile scleroderma is a rare connective tissue disease that involves the skin and subcutaneous tissue. Among all presentations of juvenile scleroderma, localized scleroderma (JLSc) is the most frequent, followed by systemic disease (JSSc) and eosinophilic fasciitis (EF). In posttransplantation chronic graft-versus-host disease (GvHD), scleroderma-like skin involvement can occur. Systemic forms of juvenile scleroderma and GvHD can affect the internal organs, such as the lungs, the gastrointestinal tract, the heart, and kidneys and cause disability and severe, sometimes lethal, complications. Here, the authors give an overview of different presentations of juvenile scleroderma. They report their experience with the different forms and presentations of scleroderma, diagnostic workups, treatment, and outcome of all forms of childhood scleroderma in the context of the existing literature.

  2. Localization fibrosing mediastinitis causing pulmonary infraction: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Sur, Young Keun; Kim, Eun Young; Kang, Doo Kyoung; Park, Kyung Joo; Koh, Young Wha; Sun, Joo Sung [Ajou University School of Medicine, Suwon (Korea, Republic of)

    2016-06-15

    A 44-year-old female patient visited our emergency room for hemoptysis and refractory chest wall pain of 2 months duration. She had no history of smoking or other medical conditions. Chest CT scan showed homogenously enhancing soft tissue mass without calcification at the left pulmonary hilum. Encasing and compression of the left lower pulmonary artery by the mass had resulted in pulmonary infarction in the left lower lobe. Laboratory tests for tuberculosis, fungus, and vasculitis were all negative. The patient underwent surgical biopsy and resection of infarcted left lower lobe that was histopathologically confirmed as fibrosing mediastinitis. Herein, we reported a rare case of surgically confirmed and treated localized fibrosing mediastinitis causing pulmonary infarction.

  3. Validation of the Body Concealment Scale for Scleroderma (BCSS): Replication in the Scleroderma Patient-centered Intervention Network (SPIN) Cohort

    NARCIS (Netherlands)

    Jewett, L.R.; Kwakkenbos, C.M.C.; Carrier, M.E.; Malcarne, V.L.; Harcourt, D.; Rumsey, N.; Mayes, M.D.; Assassi, S.; Körner, A.; Fox, R.S.; Gholizadeh, S.; Mills, S.D.; Fortune, C.; Thombs, B.D.

    2017-01-01

    Body concealment is an important component of appearance distress for individuals with disfiguring conditions, including scleroderma. The objective was to replicate the validation study of the Body Concealment Scale for Scleroderma (BCSS) among 897 scleroderma patients. The factor structure of the

  4. Bilateral lymphocytic alveolitis: a common reaction after unilateral thoracic irradiation

    International Nuclear Information System (INIS)

    Martin, C.; Romero, S.; Arriero, J.M.; Hernandez, L.; Sanchez-Paya, J.; Massuti, B.

    1999-01-01

    The main aim of the present study was to assess the early diagnostic value of bronchoalveolar lavage (BAL) in radiation-induced lung injury in patients with breast carcinoma. Twenty-six females receiving postoperative radiotherapy for breast cancer were evaluated before and 0, 15, 30, 60 , and 180 days after radiotherapy. History, physical examination, chest radiographs, and pulmonary function tests were obtained. BAL, including lymphocyte subsets analysis, was limited to the second evaluation after radiotherapy. A group of 21 healthy females were used as control. Findings after radiotherapy in asymptomatic patients were compared with findings in a group of patients with radiation pneumonitis. Irradiated patients showed a significantly (p<0.01) greater percentage (29.5±15.7%) of BAL lymphocytes than controls (6.2±3.3%). No statistical differences existed in BAL findings between the irradiated and unirradiated sides of the chest. Percentages of BAL lymphocytes did not differ significantly between patients who developed subsequent pneumonitis (24.5±13.5%) and those who did not develop pneumonitis (32.8±16.5%). Patients with pneumonitis at the time of BAL had significantly higher (p<0.05) alveolar CD4 subset cells (24.8±10.2%) than asymptomatic patients (15.2±8.9%). Maximal reductions in total lung capacity (p<0.01), and residual volume (p<0.05) occurred 60 days after irradiation. The early lymphocytic alveolitis induced by unilateral thoracic radiotherapy in most patients with breast cancer is always bilateral and does not predict the subsequent development of radiological evidence of pneumonitis. (au)

  5. Bilateral lymphocytic alveolitis: a common reaction after unilateral thoracic irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Martin, C.; Romero, S.; Arriero, J.M.; Hernandez, L. [Hospital General Universitario, Servicios de Neumologia, Alicante (Spain); Sanchez-Paya, J. [Hospital General Universitario, Epidemiologia, Alicante (Spain); Massuti, B. [Hospital General Universitario, Oncologia, Alicante (Spain)

    1999-04-01

    The main aim of the present study was to assess the early diagnostic value of bronchoalveolar lavage (BAL) in radiation-induced lung injury in patients with breast carcinoma. Twenty-six females receiving postoperative radiotherapy for breast cancer were evaluated before and 0, 15, 30, 60 , and 180 days after radiotherapy. History, physical examination, chest radiographs, and pulmonary function tests were obtained. BAL, including lymphocyte subsets analysis, was limited to the second evaluation after radiotherapy. A group of 21 healthy females were used as control. Findings after radiotherapy in asymptomatic patients were compared with findings in a group of patients with radiation pneumonitis. Irradiated patients showed a significantly (p<0.01) greater percentage (29.5{+-}15.7%) of BAL lymphocytes than controls (6.2{+-}3.3%). No statistical differences existed in BAL findings between the irradiated and unirradiated sides of the chest. Percentages of BAL lymphocytes did not differ significantly between patients who developed subsequent pneumonitis (24.5{+-}13.5%) and those who did not develop pneumonitis (32.8{+-}16.5%). Patients with pneumonitis at the time of BAL had significantly higher (p<0.05) alveolar CD4 subset cells (24.8{+-}10.2%) than asymptomatic patients (15.2{+-}8.9%). Maximal reductions in total lung capacity (p<0.01), and residual volume (p<0.05) occurred 60 days after irradiation. The early lymphocytic alveolitis induced by unilateral thoracic radiotherapy in most patients with breast cancer is always bilateral and does not predict the subsequent development of radiological evidence of pneumonitis. (au) 38 refs.

  6. Scleroderma

    Science.gov (United States)

    ... this research; and the dissemination of information on research progress in these diseases. Contact Us NIAMS Archive Viewers and Players Social Media Moderation Policy FOIA Privacy Statement Accessibility Disclaimer Digital Strategy ...

  7. Current and future direction in the management of scleroderma.

    Science.gov (United States)

    Brady, Sean M; Shapiro, Lee; Mousa, Shaker A

    2016-09-01

    Scleroderma is a heterogeneous disease with a complex etiology. As more information is gained about the underlying mechanisms and the improved classifications of scleroderma subtypes, treatments can be better personalized. Improving scleroderma patients' early diagnosis before end organ manifestations occur should improve clinical trial design and outcomes. Two recently FDA-approved antifibrotics for idiopathic pulmonary fibrosis may be effective treatments in patients with pulmonary fibrosis secondary to scleroderma after further investigation. The potential impact of Nanobiotechnology in improving the efficacy and safety of existing antifibrotics and immunomodulators might present an exciting new approach in the management of scleroderma.

  8. Abnormalities in the Regulators of Angiogenesis in Patients with Scleroderma

    Science.gov (United States)

    HUMMERS, LAURA K.; HALL, AMY; WIGLEY, FREDRICK M.; SIMONS, MICHAEL

    2014-01-01

    Objective To determine plasma levels of regulators of angiogenesis in patients with scleroderma and to correlate those levels with manifestations of scleroderma-related vascular disease. Methods Plasma levels of vascular endothelial growth factor (VEGF), platelet-derived growth factor (PDGF), fibroblast growth factor-2 (FGF-2), matrix metalloproteinase-9 (MMP-9), endostatin, pro-MMP-1, hepatocyte growth factor (HGF), placental growth factor (PlGF), and FGF-4 were examined by ELISA in a cross-sectional study of 113 patients with scleroderma and 27 healthy controls. Simple and multivariate regression models were used to look for associations between factor levels and clinical disease characteristics. Results There were marked differences in the levels of pro-angiogenic growth factors between patients with scleroderma and controls, with significant elevations of VEGF, PDGF, FGF-2, and PlGF among patients with scleroderma (p scleroderma patients compared to controls (MMP-9 and pro-MMP-1) (p scleroderma, but had a positive correlation with right ventricular systolic pressure (RVSP) as measured by echocardiogram (p scleroderma (p scleroderma. The levels of some factors correlate with measures of vascular disease among patients with scleroderma. Dysregulated angiogenesis may play a role in the development of scleroderma vascular disease. PMID:19228661

  9. Caring for the Patient With Limited Systemic Scleroderma.

    Science.gov (United States)

    Lachner, Kelly Denise

    2016-01-01

    Systemic scleroderma (systemic sclerosis) is a rare, autoimmune, collagen-vascular disease of unknown etiology that affects the connective tissues of the skin, internal organs, as well as the small blood vessels. There are 3 subclasses of systemic scleroderma: limited cutaneous, diffuse cutaneous, and sine scleroderma. Prognosis depends on the extent of organ involvement. Complications of systemic scleroderma can involve the cardiovascular, pulmonary, gastrointestinal, renal, integumentary, and the skeletal-muscular systems. Because systemic scleroderma is not common, many orthopaedic nurses may be unfamiliar with how to best provide care. This article provides information about the complexity of the different types of this disease and the basic nursing care of the patient with the most common subclass of systemic scleroderma, limited cutaneous systemic scleroderma.

  10. 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...

  11. An unusual dental phenomenon in systemic scleroderma

    International Nuclear Information System (INIS)

    ElCridly, Mahmoud

    1989-01-01

    Systemic scleroderma is a disease of unknown etiology characterized by excessive deposition of collagen and other connective tissue components in the skin and several internal organs. The most common oral findings are rigidity and thinness of lips, circumoral fibrosis which causes microstomia and inability to open the mouth widely. Involvement of tongue may lead to its decreased mobility and diminished size. Radiographic findings that have been classically associated with systemic scleroderma are widening of the periodontal ligament spaces and destruction of lamina dura, usually in posterior teeth. Intraoral radiographs of presented cases revealed apical resorption of the roots and destruction of the lamina dura verified on extraction of the teeth. This oral finding appears not to have been recorded by previous investigators of scleroderma. (author)

  12. Linear scleroderma following Blaschko′s lines

    Directory of Open Access Journals (Sweden)

    Mukhopadhyay Amiya

    2005-01-01

    Full Text Available Blaschko′s lines form a pattern, which many diseases are found to follow, but linear scleroderma following Blaschko′s lines is a controversial entity rarely reported in the literature. A 24-year-old man presented with multiple linear, atrophic, hyperpigmented lesions punctuated by areas of depigmentations on the left half of the trunk distributed on the anterior, lateral and posterior aspects. The lesions were distributed in a typical S-shaped line. Antinuclear antibody and antihistone antibody tests were negative. Histopathological examination of the skin from the affected area showed features suggestive of scleroderma. Here, we present a case of linear scleroderma following Blaschko′s lines in a male patient - an entity reported only three times so far.

  13. Musculoskeletal MRI findings of juvenile localized scleroderma

    Energy Technology Data Exchange (ETDEWEB)

    Eutsler, Eric P. [Nemours Children' s Health System/Alfred I. duPont Hospital for Children, Wilmington, DE (United States); Washington University School of Medicine, Mallinckrodt Institute of Radiology, St. Louis, MO (United States); Horton, Daniel B. [Nemours Children' s Health System/Alfred I. duPont Hospital for Children, Division of Rheumatology, Department of Pediatrics, Wilmington, DE (United States); Rutgers Robert Wood Johnson Medical School, Department of Pediatrics, New Brunswick, NJ (United States); Epelman, Monica [Nemours Children' s Health System/Nemours Children' s Hospital, Department of Medical Imaging, Orlando, FL (United States); Finkel, Terri [Nemours Children' s Health System/Nemours Children' s Hospital, Department of Pediatrics, Orlando, FL (United States); Averill, Lauren W. [Nemours Children' s Health System/Alfred I. duPont Hospital for Children, Wilmington, DE (United States)

    2017-04-15

    Juvenile localized scleroderma comprises a group of autoimmune conditions often characterized clinically by an area of skin hardening. In addition to superficial changes in the skin and subcutaneous tissues, juvenile localized scleroderma may involve the deep soft tissues, bones and joints, possibly resulting in functional impairment and pain in addition to cosmetic changes. There is literature documenting the spectrum of findings for deep involvement of localized scleroderma (fascia, muscles, tendons, bones and joints) in adults, but there is limited literature for the condition in children. We aimed to document the spectrum of musculoskeletal magnetic resonance imaging (MRI) findings of both superficial and deep juvenile localized scleroderma involvement in children and to evaluate the utility of various MRI sequences for detecting those findings. Two radiologists retrospectively evaluated 20 MRI studies of the extremities in 14 children with juvenile localized scleroderma. Each imaging sequence was also given a subjective score of 0 (not useful), 1 (somewhat useful) or 2 (most useful for detecting the findings). Deep tissue involvement was detected in 65% of the imaged extremities. Fascial thickening and enhancement were seen in 50% of imaged extremities. Axial T1, axial T1 fat-suppressed (FS) contrast-enhanced and axial fluid-sensitive sequences were rated most useful. Fascial thickening and enhancement were the most commonly encountered deep tissue findings in extremity MRIs of children with juvenile localized scleroderma. Because abnormalities of the skin, subcutaneous tissues and fascia tend to run longitudinally in an affected limb, axial T1, axial fluid-sensitive and axial T1-FS contrast-enhanced sequences should be included in the imaging protocol. (orig.)

  14. Periostin in Mature Stage Localized Scleroderma.

    Science.gov (United States)

    Kim, Min-Woo; Park, Jung Tae; Kim, Jung Ho; Koh, Seong-Joon; Yoon, Hyun-Sun; Cho, Soyun; Park, Hyun-Sun

    2017-06-01

    Periostin is a novel matricellular protein expressed in many tissues, including bone, periodontal ligament, and skin. Although its expression is prominent in various fibrotic conditions, studies of periostin in localized scleroderma are rare. To investigate the expression of periostin and other molecules in localized scleroderma. A retrospective study of 14 patients with confirmed mature stage localized scleroderma was undertaken. Fourteen age-matched and biopsy site-matched subjects with normal skin were included as controls. Collagen fiber deposition, periostin, procollagen, transforming growth factor-β, and matrix metalloproteinase (MMP)-1 expression were assessed and compared between the two groups. Co-localization of α-smooth muscle actin and periostin was evaluated using confocal microscopy. Periostin was predominantly expressed along the dermo-epidermal junction in the controls. Conversely, patients with localized scleroderma demonstrated increased collagen fiber deposition and periostin expression that was more widely distributed along the entire dermis. MMP-1 staining showed increased expression in the epidermis and dermis of patients compared to scanty expression in the controls. A semi-quantitative evaluation showed a higher proportion of excessive collagen bundle deposition (57.1% vs. 7.1%, p =0.013), diffuse periostin positivity (42.9% vs. 0%, p =0.016), and moderate MMP-1 positivity (71.4% vs. 7.1%, p =0.001) in patients than in the controls. Compared to the controls, patients with localized scleroderma had enhanced periostin expression corresponding to increased collagen fiber deposition and unexpected overexpression of MMP-1. The results of this human in vivo study may implicate the pathogenesis of localized scleroderma.

  15. Musculoskeletal MRI findings of juvenile localized scleroderma

    International Nuclear Information System (INIS)

    Eutsler, Eric P.; Horton, Daniel B.; Epelman, Monica; Finkel, Terri; Averill, Lauren W.

    2017-01-01

    Juvenile localized scleroderma comprises a group of autoimmune conditions often characterized clinically by an area of skin hardening. In addition to superficial changes in the skin and subcutaneous tissues, juvenile localized scleroderma may involve the deep soft tissues, bones and joints, possibly resulting in functional impairment and pain in addition to cosmetic changes. There is literature documenting the spectrum of findings for deep involvement of localized scleroderma (fascia, muscles, tendons, bones and joints) in adults, but there is limited literature for the condition in children. We aimed to document the spectrum of musculoskeletal magnetic resonance imaging (MRI) findings of both superficial and deep juvenile localized scleroderma involvement in children and to evaluate the utility of various MRI sequences for detecting those findings. Two radiologists retrospectively evaluated 20 MRI studies of the extremities in 14 children with juvenile localized scleroderma. Each imaging sequence was also given a subjective score of 0 (not useful), 1 (somewhat useful) or 2 (most useful for detecting the findings). Deep tissue involvement was detected in 65% of the imaged extremities. Fascial thickening and enhancement were seen in 50% of imaged extremities. Axial T1, axial T1 fat-suppressed (FS) contrast-enhanced and axial fluid-sensitive sequences were rated most useful. Fascial thickening and enhancement were the most commonly encountered deep tissue findings in extremity MRIs of children with juvenile localized scleroderma. Because abnormalities of the skin, subcutaneous tissues and fascia tend to run longitudinally in an affected limb, axial T1, axial fluid-sensitive and axial T1-FS contrast-enhanced sequences should be included in the imaging protocol. (orig.)

  16. Musculoskeletal MRI findings of juvenile localized scleroderma.

    Science.gov (United States)

    Eutsler, Eric P; Horton, Daniel B; Epelman, Monica; Finkel, Terri; Averill, Lauren W

    2017-04-01

    Juvenile localized scleroderma comprises a group of autoimmune conditions often characterized clinically by an area of skin hardening. In addition to superficial changes in the skin and subcutaneous tissues, juvenile localized scleroderma may involve the deep soft tissues, bones and joints, possibly resulting in functional impairment and pain in addition to cosmetic changes. There is literature documenting the spectrum of findings for deep involvement of localized scleroderma (fascia, muscles, tendons, bones and joints) in adults, but there is limited literature for the condition in children. We aimed to document the spectrum of musculoskeletal magnetic resonance imaging (MRI) findings of both superficial and deep juvenile localized scleroderma involvement in children and to evaluate the utility of various MRI sequences for detecting those findings. Two radiologists retrospectively evaluated 20 MRI studies of the extremities in 14 children with juvenile localized scleroderma. Each imaging sequence was also given a subjective score of 0 (not useful), 1 (somewhat useful) or 2 (most useful for detecting the findings). Deep tissue involvement was detected in 65% of the imaged extremities. Fascial thickening and enhancement were seen in 50% of imaged extremities. Axial T1, axial T1 fat-suppressed (FS) contrast-enhanced and axial fluid-sensitive sequences were rated most useful. Fascial thickening and enhancement were the most commonly encountered deep tissue findings in extremity MRIs of children with juvenile localized scleroderma. Because abnormalities of the skin, subcutaneous tissues and fascia tend to run longitudinally in an affected limb, axial T1, axial fluid-sensitive and axial T1-FS contrast-enhanced sequences should be included in the imaging protocol.

  17. Pediatric scleroderma: systemic or localized forms.

    Science.gov (United States)

    Torok, Kathryn S

    2012-04-01

    Pediatric scleroderma includes 2 major groups of clinical entities, systemic sclerosis (SSc) and localized scleroderma (LS). Although both share a common pathophysiology, their clinical manifestations differ. LS is typically confined to the skin and underlying subcutis, with up to a quarter of patients showing extracutaneous disease manifestations such as arthritis and uveitis. Vascular, cutaneous, gastrointestinal, pulmonary, and musculoskeletal involvement are most commonly seen in children with SSc. Treatment of both forms targets the active inflammatory stage and halts disease progression; however, progress needs to be made toward the development of more effective antifibrotic therapy to help reverse disease damage. Copyright © 2012 Elsevier Inc. All rights reserved.

  18. Nodular Scleroderma - Successful Treatment With Extracorporeal Photochemotherapy

    Directory of Open Access Journals (Sweden)

    Wollina U

    2001-01-01

    Full Text Available Nodular seleroderma is rare variant of circumscribed scleroderma (morphea. Treatment is often unsatisfactory. This report is on the use of extracorporeal photochemotherapy. A 12 year old girl and a 49 year old woman have been treated once a month on two consecutive days. A complete remission was achieved in one patient after 10 months and an almost complete remission in the young girl after 6 months. The treatment was well-tolerated and no severe side â€" effects occurred. In contrast to previous attempts in treating nodular scleroderma with different modalities, ECP seems to be an effective therapy.

  19. Experimental alveolitis in rats: microbiological, acute phase response and histometric characterization of delayed alveolar healing.

    Science.gov (United States)

    Rodrigues, Moacyr Tadeu Vicente; Cardoso, Camila Lopes; Carvalho, Paulo Sérgio Perri de; Cestari, Tânia Mary; Feres, Magda; Garlet, Gustavo Pompermaier; Ferreira, Osny

    2011-01-01

    The pathogenesis of alveolitis is not well known and therefore experimental situations that mimic some features of this disease should be developed. In this study, the evolution of the experimentally induced infection in rat sockets is characterized, which leads to clinical signs of suppurative alveolitis with remarkable wound healing disturbs. Non-infected (Group I) and experimentally infected sockets in Rattus novergicus (Group II) were histometrically evaluated regarding the kinetics of alveolar healing. In addition, the characterization of the present bacteria in inoculation material and the serum levels of C-reactive protein (CRP) were performed. The detected species were Capnocytophaga ochracea, Fusobacterium nucleatum ss nucleatum, Prevotella melaninogenica, Streptococcus anginosus, Treponema socranskii and Streptococcus sanguis. All experimentally infected rats developed suppurative alveolitis, showing higher levels of CRP in comparison to those non-infected ones. Furthermore, infected rats presented a significant delayed wound healing as measured by the histometric analysis (higher persistent polymorphonuclear infiltrate and lower density of newly formed bone). These findings indicate that rat sockets with experimentally induced infection produced higher levels of serum CRP, showing the potential of disseminated infection and a disturb in the alveolar repair process in an interesting experimental model for alveolitis studies.

  20. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

    Science.gov (United States)

    Mercier, Sandra; Küry, Sébastien; Salort-Campana, Emmanuelle; Magot, Armelle; Agbim, Uchenna; Besnard, Thomas; Bodak, Nathalie; Bou-Hanna, Chantal; Bréhéret, Flora; Brunelle, Perrine; Caillon, Florence; Chabrol, Brigitte; Cormier-Daire, Valérie; David, Albert; Eymard, Bruno; Faivre, Laurence; Figarella-Branger, Dominique; Fleurence, Emmanuelle; Ganapathi, Mythily; Gherardi, Romain; Goldenberg, Alice; Hamel, Antoine; Igual, Jeanine; Irvine, Alan D; Israël-Biet, Dominique; Kannengiesser, Caroline; Laboisse, Christian; Le Caignec, Cédric; Mahé, Jean-Yves; Mallet, Stéphanie; MacGowan, Stuart; McAleer, Maeve A; McLean, Irwin; Méni, Cécile; Munnich, Arnold; Mussini, Jean-Marie; Nagy, Peter L; Odel, Jeffrey; O'Regan, Grainne M; Péréon, Yann; Perrier, Julie; Piard, Juliette; Puzenat, Eve; Sampson, Jacinda B; Smith, Frances; Soufir, Nadem; Tanji, Kurenai; Thauvin, Christel; Ulane, Christina; Watson, Rosemarie M; Khumalo, Nonhlanhla P; Mayosi, Bongani M; Barbarot, Sébastien; Bézieau, Stéphane

    2015-10-15

    Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. Our objective in this study was to better define the specific features of POIKTMP through a larger series of patients. Clinical and molecular data of two families and eight independent sporadic cases, including six new cases, were collected. Key features consist of: (i) early-onset poikiloderma, hypotrichosis and hypohidrosis; (ii) multiple contractures, in particular triceps surae muscle contractures; (iii) diffuse progressive muscular weakness; (iv) pulmonary fibrosis in adulthood and (v) other features including exocrine pancreatic insufficiency, liver impairment and growth retardation. Muscle magnetic resonance imaging was informative and showed muscle atrophy and fatty infiltration. Histological examination of skeletal muscle revealed extensive fibroadipose tissue infiltration. Microscopy of the skin showed a scleroderma-like aspect with fibrosis and alterations of the elastic network. FAM111B gene analysis identified five different missense variants (two recurrent mutations were found respectively in three and four independent families). All the mutations were predicted to localize in the trypsin-like cysteine/serine peptidase domain of the protein. We suggest gain-of-function or dominant-negative mutations resulting in FAM111B enzymatic activity changes. HFP with tendon contractures, myopathy and pulmonary fibrosis, is a multisystemic disorder due to autosomal dominant FAM111B mutations. Future functional studies will help in understanding the specific pathological process of this fibrosing disorder.

  1. Pathogenesis and treatment modalities of localized scleroderma.

    Science.gov (United States)

    Valančienė, Greta; Jasaitienė, Daiva; Valiukevičienė, Skaidra

    2010-01-01

    Localized scleroderma is a chronic inflammatory disease primarily of the dermis and subcutaneous fat that ultimately leads to a scar-like sclerosis of connective tissue. The disorder manifests as various plaques of different shape and size with signs of skin inflammation, sclerosis, and atrophy. This is a relatively rare inflammatory disease characterized by a chronic course, unknown etiology, and insufficiently clear pathogenesis. Many factors may influence its appearance: trauma, genetic factors, disorders of the immune system or hormone metabolism, viral infections, toxic substances or pharmaceutical agents, neurogenic factors, and Borrelia burgdorferi infection. Various therapeutic modalities are being used for the treatment of localized scleroderma. There is no precise treatment scheme for this disease. A majority of patients can be successfully treated with topical pharmaceutical agents and phototherapy, but some of them with progressive, disseminated, and causing disability localized scleroderma are in need of systemic treatment. The aim of this article is not only to dispute about the clinical and morphological characteristics of localized scleroderma, but also to present the newest generalized data about the possible origin, pathogenesis, and treatment modalities of this disease.

  2. Challenges and strategies for coping with scleroderma: implications for a scleroderma-specific self-management program.

    Science.gov (United States)

    Milette, Katherine; Thombs, Brett D; Maiorino, Kristina; Nielson, Warren R; Körner, Annett; Peláez, Sandra

    2018-05-09

    The purpose of this study was to explore challenges faced by patients with systemic sclerosis, also called scleroderma, in coping with their disease and the strategies they used to face those challenges. Five focus groups were held with scleroderma patients (4 groups, n = 34) and health care professionals who have experience treating scleroderma (1 group, n = 8). Participants' discussions were recorded, transcribed and analyzed using thematic analysis. Participants reported challenges accessing information (e.g., knowledgeable specialists), dealing with negative emotions (e.g., stress due to misunderstandings with loved ones), and accessing resources (e.g., helpful products or devices). Strategies for overcoming challenges were also discussed (e.g., advocating for own needs). When faced with significant challenges while coping with scleroderma, patients develop strategies to manage better and improve their quality of life. To help them cope, patients would benefit from easier access to supportive interventions, including tailored scleroderma self-management programs. Although the challenges experienced by patients with scleroderma are unique, findings from this study might help better understand patients' perspectives regarding coping and disease management for other chronic diseases as well. Implications for Rehabilitation People living with rare diseases, including the rare autoimmune disease scleroderma, face unique challenges and often do not have access to disease-specific educational or other support resources. People with scleroderma report that they face challenges in accessing information, including knowledgeable healthcare providers; managing difficult social interactions and negative emotions; and accessing resources. Strategies employed by scleroderma patients to overcome these challenges include seeking connections to other people with scleroderma or scleroderma patient organizations, actively seeking out local resources, and learning to

  3. Aberrant Recapitulation of Developmental Program: Novel Target in Scleroderma

    Science.gov (United States)

    2015-12-01

    AWARD NUMBER: W81XWH-12-1-0472 TITLE: “Aberrant Recapitulation of Developmental Program: Novel Target in Scleroderma ” PRINCIPAL INVESTIGATOR...SUBTITLE Aberrant Recapitulation of Developmental Program: Novel Target in Scleroderma 5a. CONTRACT NUMBER W81XWH-12-1-0472 5b. GRANT NUMBER 5c. PROGRAM...SPONSOR/MONITOR’S REPORT NUMBER(S) 12. DISTRIBUTION / AVAILABILITY STATEMENT 13. SUPPLEMENTARY NOTES 14. ABSTRACT Fibrosis in scleroderma is associated

  4. Unilateral Enophthalmos in Linear Scleroderma: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Cho, So hyun; Hwang, Hee Young; Choi, Hye Young; Kim, Hyung Sik [Gachon University, Gil Hospital, Incheon (Korea, Republic of)

    2010-04-15

    Linear scleroderma is an uncommon subtype of localized scleroderma, which is characterized by a linear streak that crosses dermatomes and is associated with the tracking of fibrosis from the skin into deeper tissues, including muscle and fascia. A severe form of this condition sometimes causes growth atrophy of bone and supporting tissue in the affected area. Enophthalmos as a manifestation of linear scleroderma is very rare and occurs due to the replacement of orbital fat and muscle with collagen, which finally leads to atrophy of the affected orbit. This report introduces imaging findings of two cases of enophthalmos caused by linear scleroderma

  5. Unilateral Enophthalmos in Linear Scleroderma: A Case Report

    International Nuclear Information System (INIS)

    Cho, So hyun; Hwang, Hee Young; Choi, Hye Young; Kim, Hyung Sik

    2010-01-01

    Linear scleroderma is an uncommon subtype of localized scleroderma, which is characterized by a linear streak that crosses dermatomes and is associated with the tracking of fibrosis from the skin into deeper tissues, including muscle and fascia. A severe form of this condition sometimes causes growth atrophy of bone and supporting tissue in the affected area. Enophthalmos as a manifestation of linear scleroderma is very rare and occurs due to the replacement of orbital fat and muscle with collagen, which finally leads to atrophy of the affected orbit. This report introduces imaging findings of two cases of enophthalmos caused by linear scleroderma

  6. Gastrointestinal symptoms and motility disorders in patients with systemic scleroderma

    Directory of Open Access Journals (Sweden)

    Palasciano Giuseppe

    2008-02-01

    Full Text Available Abstract Background Studies on gastrointestinal symptoms, dysfunctions, and neurological disorders in systemic scleroderma are lacking so far. Methods Thirty-eight scleroderma patients (34 limited, 4 diffuse, 60 healthy controls and 68 dyspeptic controls were scored for upper and lower gastrointestinal symptoms (dyspepsia, bowel habits, gastric and gallbladder emptying to liquid meal (functional ultrasonography and small bowel transit (H2-breath test. Autonomic nerve function was assessed by cardiovascular tests. Results The score for dyspepsia (mainly gastric fullness was greater in scleroderma patients than healthy controls, but lower than dyspeptic controls who had multiple symptoms, instead. Scleroderma patients with dyspepsia had a longer disease duration. Fasting antral area and postprandial antral dilatation were smaller in scleroderma patients than dyspeptic and healthy controls. Gastric emptying was delayed in both scleroderma patients (particularly in those with abnormal dyspeptic score and dyspeptic controls, who also showed a larger residual area. Despite gallbladder fasting and postprandial volumes were comparable across the three groups, gallbladder refilling appeared delayed in dyspeptic controls and mainly dependent on delayed gastric emptying in scleroderma. Small intestinal transit was also delayed in 74% of scleroderma and 66% of dyspeptic controls. Bowel habits were similar among the three groups. Autonomic neuropathy was not associated with dyspepsia, gastric and gallbladder motility and small intestinal transit. Conclusion In scleroderma patients dyspepsia (mainly gastric fullness, restricted distension of the gastric antrum and diffuse gastrointestinal dysmotility are frequent features. These defects are independent from the occurrence of autonomic neuropathy.

  7. Eficacia del extracto fluido de Vimang® en el tratamiento de pacientes con alveolitis

    Directory of Open Access Journals (Sweden)

    Yolanda Del Toro Gámez

    2014-09-01

    Full Text Available Se realizó un ensayo clínico de fase III en 118 pacientes con alveolitis, atendidos en la consulta estomatológica del Hospital General Docente "Dr. Juan Bruno Zayas Alfonso" de Santiago de Cuba, para evaluar la eficacia del extracto fluido de Vimang® en el tratamiento de ellos. La muestra se dividió en 2 grupos (experimental y control, distribuidos aleatoriamente; los integrantes del primero, tratados con el mencionado extracto; y los del segundo, con Alvogyl. Los resultados del estudio fueron validados mediante el estadígrafo de Ji al cuadrado. Se concluye que el extracto fluido de Vimang® fue eficaz para eliminar la alveolitis en menor tiempo y sin reacciones adversas, por lo cual se recomendó generalizar su uso

  8. Polymyositis and the Spectrum of Scleroderma Disorders

    Directory of Open Access Journals (Sweden)

    Joana Cochicho

    2015-12-01

    Full Text Available Polymyositis (PM is usually associated to other autoimmune or connective tissue diseases. The authors report the case of a 59-year-old man with pulmonary fibrosis, who presented with constitutional symptoms and gradually developed proximal muscle weakness, Raynaud phenomenon, and dysphagia. Besides creatine kinase (CK elevation, he had positive anti-Polymyositis-Scleromyositis (PM-Scl and anti-Sjögren's-syndrome A (SSA antibodies. Nailfold capillaroscopy showed a scleroderma pattern and muscle biopsy revealed necrosis, regeneration of muscle fibers, and inflammatory infiltrate. Prednisolone was started, with great improvement. Taking into account the overlap features between PM and systemic sclerosis sine scleroderma, it is important to closely monitor the patient for signs of pulmonary and cardiac decompensation.

  9. Morphea and other localized forms of scleroderma.

    Science.gov (United States)

    Vasquez, Rebecca; Sendejo, Chelsea; Jacobe, Heidi

    2012-11-01

    Morphea, also known as localized scleroderma, is a disorder of excessive collagen deposition leading to thickening of the dermis and/or subcutaneous tissues and may cause significant morbidity. This review will describe new developments in the evaluation and management of morphea as well as its pathophysiology. The reader will be able to apply these findings to patient management. The recent development of validated outcome measures (i.e. the localized scleroderma cutaneous assessment tool) as well as consensus treatment recommendations provide a platform for collaboration among specialties to develop both standardized assessment tools and therapeutic trials. New studies have also begun to investigate the immunological underpinnings of morphea. The promise of evidence-based treatments for morphea in the near future will provide better care for patients with morphea and understanding its pathophysiology will lay groundwork for the development of new treatments.

  10. Alveolitis: Revisión de la literatura y actualización

    Directory of Open Access Journals (Sweden)

    Odalys Martín Reyes

    2001-12-01

    Full Text Available La alveolitis es la complicación más frecuente de la extracción dentaria. Su frecuencia varía del 1 al 4 % y puede llegar del 20 al 30 % en extracciones de terceros molares mandibulares. Se describen algunos factores de riesgo que aumentan su incidencia, aunque se habla de un origen multifactorial. La clínica y los síntomas subjetivos nos permiten su diagnóstico y clasificación. Para tratar las alveolitis se han utilizado localmente distintos productos para inducir la formación del coágulo: antibióticos, anestésicos, analgésicos y antiinflamatorios, asociados o no con corticoides, analgésicos y antibióticos sistémicos. También la medicina natural y tradicional ocupa un lugar importante en el tratamiento de esta urgencia estomatológica, y se destacan terapéuticas como: la apiterapia, la acupuntura y la ozonoterapia, además tecnologías de avanzada como los soft láser.Alveolitis is the most frequent complication of tooth extraction. Its frequency varies from 1 to 4 % and may reach 20 to 30 % in extractions of mandibular third molars. Some risk factors increasing its incidence are described, although reference is made to a multifactorial origin. The clinic and the subjective symptoms allow us to make its diagnosis and to classify it. Different products have been used in the treatment of alveolitis to induce clot formation: antibiotics, anesthesics, analgesics and anti-inflammatories associated or not with corticoids, analgesics and systemic antibiotics. Natural and traditional medicine also play an important role in the treatment of this stomatological emergency and therepeutics such as the apiotherapy, the acupuncture, the ozone therapy and state-of-the art technologies as the soft laser are stressed.

  11. Tumor-like calcifications with scleroderma

    International Nuclear Information System (INIS)

    Meyer, E.; Kulenkampff, H.A.; Kortenhaus, H.

    1987-01-01

    In patients with progressive scleroderma, interstitial calcifications are present to a varying extent. They are mostly located in the soft tissues of the fingers, resembling points, commas or dashes. They may also appear as 'calcinosis universalis' and reach a considerable size. Thus they mimic proliferative tumors. Scintigraphy, proving the existence of further calcifications can be helpful. We report the case of a female patient who presented with such a 'pseudotumor' of unusual size, site and extent in the lumbar region. (orig.) [de

  12. Progressive systemic scleroderma (A case report)

    International Nuclear Information System (INIS)

    Han, Jung Suh; Kwon, Chung Sik

    1974-01-01

    This is a report of a rare case of progressive systemic scleroderma involving the skin, lungs, bones, esophagus, duodenum, and colon in a 27 year old Korean female whose chief complaints were generalized edema, knee joint pain, hard and indurated skin lesions on the anterior chest, neck, both upper and lower extremities with loss of pain and touch sensation for one year. A review of literature is submitted

  13. Case for diagnosis. Localized scleroderma or morphea.

    Science.gov (United States)

    Tomiyoshi, Carolina; Wojcik, Adma Silva de Lima; Vencato, Elisa Milani Oba; Taques, Guilherme Ribas; Fillus Neto, José; Brenner, Fabiane Andrade Mulinari

    2010-01-01

    Localized scleroderma or morphea is a chronic disease of the connective tissue. Its etiology may be autoimmune and the condition results from a disturbance in collagen synthesis and deposition, clinically represented by sclerotic skin lesions. Some plaques may be yellowish, which can be misleading at diagnosis. This article reports the case of an adolescent girl who concomitantly presented erythematous lesions and yellowish lesions, both of which constitute clinical manifestations of the disease.

  14. Progressive systemic scleroderma (A case report)

    Energy Technology Data Exchange (ETDEWEB)

    Han, Jung Suh; Kwon, Chung Sik [Chonnam University College of Medicine, Kwangju (Korea, Republic of)

    1974-10-15

    This is a report of a rare case of progressive systemic scleroderma involving the skin, lungs, bones, esophagus, duodenum, and colon in a 27 year old Korean female whose chief complaints were generalized edema, knee joint pain, hard and indurated skin lesions on the anterior chest, neck, both upper and lower extremities with loss of pain and touch sensation for one year. A review of literature is submitted.

  15. Clinical evaluation of an ointment with 10% metronidazole and 2% lidocaine in the treatment of alveolitis.

    Science.gov (United States)

    Silva, L J; Poi, W R; Panzarini, S R; Rodrigues, T S; Simonato, L E

    2006-01-01

    In this study, the authors evaluate the use of a 10% metronidazole and 2% lidocaine ointment, using a lanolin base and mint as flavoring, to treat alveolitis in humans. Twenty-five patients, with a diagnosis of alveolitis, were treated in the following way: locoregional anesthesia; surgical cleaning of the socket with alveolar curettes; saline solution irrigation with a 20 ml disposable syringe; and complete filling of the socket with the ointment. The analysis of the results showed that the painful symptoms were severe before and on the day of the treatment in 17 (68%) of the 25 patients treated. Post-treatment analysis presented 2 patients (18%) with severe painful symptoms after 24 h of the treatment and complete remission of painful symptoms after 48 h of the treatment with the ointment. Based on the results, it is possible to conclude that the 10% metronidazole and 2% lidocaine ointment, with mint flavoring and lanolin as a base, can be used to treat alveolitis.

  16. 4 and 6 interleukin's action in the pathogenesis of periodontitis, gingivitis and dental alveolitis.

    Science.gov (United States)

    Berezniakova, Alla I; Cheremisina, Valentуna F

    The paper presents the results of studying the role of interleukins 4 and 6 in the pathogenesis of periodontal tissue diseases, specifically, in periodontitis, gingivitis and alveolitis. To study the nature of participation of IL-4 and IL-6 in the mechanisms of development of periodontitis, gingivitis and alveolitis. Studies were carried out on 80 nonlinear male rats with a body weight of 200.0 to 220.0 g divided into four groups of 20 animals each. The serum level of cytokines was determined by an enzyme immunoassay on the Multiscane Biotech analyzer using test systems manufactured by Caltag laboratories (USA). Statistical processing of the obtained digital results was processed with the help of the program "Statistica 8.0". Indicators of the reliability of changes between the control and intact groups also used the Student's test and the Excel program. The confidence level was taken at p gingivitis, where it decreased by 74% and its level became less with alveolitis and periodontitis, since in these diseases the level of IL-6 was practically the same from the control (p gingivitis, on the contrary, indicates the realization of a pathological reaction of the organism. The change in the levels of pro- and anti-inflammatory interleukins, especially with gingivitis, indicates a decrease in the body's adaptive reserves and may affect the further dynamics of the inflammatory process in the periodontal tissues.

  17. Gastroesophageal reflux demonstrated by hepatobiliary imaging in scleroderma

    International Nuclear Information System (INIS)

    Sawaf, N.W.; Orzel, J.A.; Weiland, F.L.

    1987-01-01

    Radionuclide hepatobiliary imaging was performed on a patient with a longstanding history of scleroderma who presented with abdominal pain suggestive of biliary disease. Cystic duct patency was documented after 10 min with tracer accumulation in the second portion of the duodenum which failed to progress consistent with the duodenal hypomotility of scleroderma. The patient was given intravenous Kinevac resulting in gastroesophageal reflux of radionuclide

  18. Gastroesophageal reflux demonstrated by hepatobiliary imaging in scleroderma

    Energy Technology Data Exchange (ETDEWEB)

    Sawaf, N.W.; Orzel, J.A.; Weiland, F.L.

    1987-03-01

    Radionuclide hepatobiliary imaging was performed on a patient with a longstanding history of scleroderma who presented with abdominal pain suggestive of biliary disease. Cystic duct patency was documented after 10 min with tracer accumulation in the second portion of the duodenum which failed to progress consistent with the duodenal hypomotility of scleroderma. The patient was given intravenous Kinevac resulting in gastroesophageal reflux of radionuclide.

  19. [Localized scleroderma: a retrospective study about 92 cases].

    Science.gov (United States)

    El Fékih, Nadia; Réjaibi, Iménc; Kamoun, Hajer; Zéglaoui, Faten; Fazaa, Bécima; Kharfi, Monia; Kamoun, Mohamed Ridha

    2009-09-01

    Sclerodermas are rare affections which can be located or generalized. Localized form is the most frequent. The purpose of this study was to describe epidemiologic, clinics, biological, immunological, therapeutic, evolutionary characteristics of the localized scleroderma through a personal series and the data of the literature. We have performed a retrospective study on all patients followed in the department of dermatology of the Hospital Charles Nicole during 14 years period. Our study was about 92 cases of localized scleroderma (73 were females and 19 males). The mean age was 35 years (between 2 and 72 years). The majority of localised sclerodermas (66.2% of the cases) appeared before 40 years with a maximum of frequency between 10 and 30 years (41.6%). Only 11.9% of the cases were observed before 10 years. They were 51 cases (55%) of morphea, 35 cases (38%) of scleroderma in bands including 32 linear scleroderma and 3 scleroderma en coup de sabre, 5 cases (5.5%) of generalized morphea and 1 case (0.15%) of deep morphea. Average therapeutic was specified among 63 patients (87%), and the evolution could be appreciated among 45 patients. The epidemiologic data observed in our series are comparable with those reported in the literature. Therapeutic difficulties and risks of functional after-effects, particular in scleroderma in bands, remain the principal concern for all the authors.

  20. Phenomenon of isomorphic provoking responses in cases of limited scleroderma

    Directory of Open Access Journals (Sweden)

    Talnikova Е.Е.

    2015-09-01

    Full Text Available The article presents the historical origin of the term "Koebner phenomenon". The literature data reflect the etiology, pathogenesis and epidemiology of isomorphic mechanisms provoking responses in lichen planus, psoriasis, scleroder-ma, syphilis. Variants of the Koebner phenomenon's classifications are given. The clinical cases of limited scleroderma after mechanical injury are described.

  1. Neurologic involvement in scleroderma: a systematic review.

    Science.gov (United States)

    Amaral, Tiago Nardi; Peres, Fernando Augusto; Lapa, Aline Tamires; Marques-Neto, João Francisco; Appenzeller, Simone

    2013-12-01

    To perform a systematic review of neurologic involvement in Systemic sclerosis (SSc) and Localized Scleroderma (LS), describing clinical features, neuroimaging, and treatment. We performed a literature search in PubMed using the following MeSH terms, scleroderma, systemic sclerosis, localized scleroderma, localized scleroderma "en coup de sabre", Parry-Romberg syndrome, cognitive impairment, memory, seizures, epilepsy, headache, depression, anxiety, mood disorders, Center for Epidemiologic Studies Depression (CES-D), SF-36, Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), Patient Health Questionnaire-9 (PHQ-9), neuropsychiatric, psychosis, neurologic involvement, neuropathy, peripheral nerves, cranial nerves, carpal tunnel syndrome, ulnar entrapment, tarsal tunnel syndrome, mononeuropathy, polyneuropathy, radiculopathy, myelopathy, autonomic nervous system, nervous system, electroencephalography (EEG), electromyography (EMG), magnetic resonance imaging (MRI), and magnetic resonance angiography (MRA). Patients with other connective tissue disease knowingly responsible for nervous system involvement were excluded from the analyses. A total of 182 case reports/studies addressing SSc and 50 referring to LS were identified. SSc patients totalized 9506, while data on 224 LS patients were available. In LS, seizures (41.58%) and headache (18.81%) predominated. Nonetheless, descriptions of varied cranial nerve involvement and hemiparesis were made. Central nervous system involvement in SSc was characterized by headache (23.73%), seizures (13.56%) and cognitive impairment (8.47%). Depression and anxiety were frequently observed (73.15% and 23.95%, respectively). Myopathy (51.8%), trigeminal neuropathy (16.52%), peripheral sensorimotor polyneuropathy (14.25%), and carpal tunnel syndrome (6.56%) were the most frequent peripheral nervous system involvement in SSc. Autonomic neuropathy involving cardiovascular and gastrointestinal systems was regularly described

  2. Capillary regeneration in scleroderma: stem cell therapy reverses phenotype?

    Directory of Open Access Journals (Sweden)

    Jo N Fleming

    2008-01-01

    Full Text Available Scleroderma is an autoimmune disease with a characteristic vascular pathology. The vasculopathy associated with scleroderma is one of the major contributors to the clinical manifestations of the disease.We used immunohistochemical and mRNA in situ hybridization techniques to characterize this vasculopathy and showed with morphometry that scleroderma has true capillary rarefaction. We compared skin biopsies from 23 scleroderma patients and 24 normal controls and 7 scleroderma patients who had undergone high dose immunosuppressive therapy followed by autologous hematopoietic cell transplant. Along with the loss of capillaries there was a dramatic change in endothelial phenotype in the residual vessels. The molecules defining this phenotype are: vascular endothelial cadherin, a supposedly universal endothelial marker required for tube formation (lost in the scleroderma tissue, antiangiogenic interferon alpha (overexpressed in the scleroderma dermis and RGS5, a signaling molecule whose expression coincides with the end of branching morphogenesis during development and tumor angiogenesis (also overexpressed in scleroderma skin. Following high dose immunosuppressive therapy, patients experienced clinical improvement and 5 of the 7 patients with scleroderma had increased capillary counts. It was also observed in the same 5 patients, that the interferon alpha and vascular endothelial cadherin had returned to normal as other clinical signs in the skin regressed, and in all 7 patients, RGS5 had returned to normal.These data provide the first objective evidence for loss of vessels in scleroderma and show that this phenomenon is reversible. Coordinate changes in expression of three molecules already implicated in angiogenesis or anti-angiogenesis suggest that control of expression of these three molecules may be the underlying mechanism for at least the vascular component of this disease. Since rarefaction has been little studied, these data may have

  3. Aerobic fitness in patients with fibrositis. A controlled study of respiratory gas exchange and 133-xenon clearance from exercising muscle

    International Nuclear Information System (INIS)

    Bennett, R.M.; Clark, S.R.; Goldberg, L.; Nelson, D.; Bonafede, R.P.; Porter, J.; Specht, D.

    1989-01-01

    Aerobic fitness was evaluated in 25 women with fibrositis, by having them exercise to volitional exhaustion on an electronically braked cycle ergometer. Compared with published standards, greater than 80% of the fibrositis patients were not physically fit, as assessed by maximal oxygen uptake. Compared with matched sedentary controls, fibrositis patients accurately perceived their level of exertion in relation to oxygen consumption and attained a similar level of lactic acidosis, as assessed by their respiratory quotient and ventilatory threshold. Exercising muscle blood flow was estimated by 133-xenon clearance in a subgroup of 16 fibrositis patients and compared with that in 16 matched sedentary controls; the fibrositis patients exhibited reduced 133-xenon clearance. These results indicate a need to include aerobic fitness as a matched variable in future controlled studies of fibrositis and suggest that the detraining phenomenon may be of relevance to the etiopathogenesis of the disease

  4. Diversity of extracellular proteins during the transition from the ‘proto-apicomplexan’ alveolates to the apicomplexan obligate parasites

    KAUST Repository

    Templeton, Thomas J.

    2015-11-20

    The recent completion of high-coverage draft genome sequences for several alveolate protozoans – namely, the chromerids, Chromera velia and Vitrella brassicaformis ; the perkinsid Perkinsus marinus ; the apicomplexan, Gregarina niphandrodes , as well as high coverage transcriptome sequence information for several colpodellids, allows for new genome-scale comparisons across a rich landscape of apicomplexans and other alveolates. Genome annotations can now be used to help interpret fine ultrastructure and cell biology, and guide new studies to describe a variety of alveolate life strategies, such as symbiosis or free living, predation, and obligate intracellular parasitism, as well to provide foundations to dissect the evolutionary transitions between these niches. This review focuses on the attempt to identify extracellular proteins which might mediate the physical interface of cell–cell interactions within the above life strategies, aided by annotation of the repertoires of predicted surface and secreted proteins encoded within alveolate genomes. In particular, we discuss what descriptions of the predicted extracellular proteomes reveal regarding a hypothetical last common ancestor of a pre-apicomplexan alveolate – guided by ultrastructure, life strategies and phylogenetic relationships – in an attempt to understand the evolution of obligate parasitism in apicomplexans.

  5. Diversity of extracellular proteins during the transition from the ‘proto-apicomplexan’ alveolates to the apicomplexan obligate parasites

    KAUST Repository

    Templeton, Thomas J.; Pain, Arnab

    2015-01-01

    The recent completion of high-coverage draft genome sequences for several alveolate protozoans – namely, the chromerids, Chromera velia and Vitrella brassicaformis ; the perkinsid Perkinsus marinus ; the apicomplexan, Gregarina niphandrodes , as well as high coverage transcriptome sequence information for several colpodellids, allows for new genome-scale comparisons across a rich landscape of apicomplexans and other alveolates. Genome annotations can now be used to help interpret fine ultrastructure and cell biology, and guide new studies to describe a variety of alveolate life strategies, such as symbiosis or free living, predation, and obligate intracellular parasitism, as well to provide foundations to dissect the evolutionary transitions between these niches. This review focuses on the attempt to identify extracellular proteins which might mediate the physical interface of cell–cell interactions within the above life strategies, aided by annotation of the repertoires of predicted surface and secreted proteins encoded within alveolate genomes. In particular, we discuss what descriptions of the predicted extracellular proteomes reveal regarding a hypothetical last common ancestor of a pre-apicomplexan alveolate – guided by ultrastructure, life strategies and phylogenetic relationships – in an attempt to understand the evolution of obligate parasitism in apicomplexans.

  6. Tratamiento de la alveolitis dental con tintura de propóleos al 5 % Treatment of dental alveolitis with 5 % propolis tincture

    Directory of Open Access Journals (Sweden)

    Ada Vivian Bravo Venero

    2012-03-01

    Full Text Available Objetivo: comparar la efectividad entre el tratamiento con tintura de propóleos al 5 % y el tratamiento farmacológico convencional en pacientes diagnosticados con alveolitis dental. Métodos: se realizó un estudio descriptivo, prospectivo, de corte longitudinal de casos y controles en la Clínica Estomatológica "José Martí" del municipio Consolación del Sur, durante el 2009. El universo estuvo constituido por 90 pacientes, los cuales se dividieron en dos grupos de tratamiento diferentes de manera aleatoria, teniendo en cuenta un grupo de casos (grupo I conformado por 30 pacientes a los que se les aplicó tratamiento con tintura de propóleos al 5 %, y otro grupo de controles (grupo II con 60 pacientes tratados con la terapéutica medicamentosa convencional. Para el procesamiento de los datos se utilizaron métodos de estadística descriptiva e inferencial. Resultados: en ambos grupos de tratamiento prevaleció el sexo femenino y hubo un predominio de la alveolitis en el grupo de edad entre los 46 y 60 años. El grupo I logró la remisión de los síntomas entre el segundo (36,6 % y el tercer días de tratamiento (60 % y solo un paciente requirió tratamiento por 5 días; mientras el grupo II requirió de un mayor período para la evolución del cuadro, entre 5 y 7 días de tratamiento para un 61,3 % (27 pacientes y 23,3 % (14 pacientes. Conclusiones: el tratamiento con tintura de propóleos al 5 % resultó altamente efectivo, pues aportó una remisión más notoria de los síntomas, ya que se observó una disminución de estos, así como la disminución del número de sesiones necesarias, lo que permite recomendarlo como una opción terapéutica adecuada.Objective: to compare the effectiveness of 5 % propolis tincture and of the conventional pharmacological treatment in patients diagnosed with dental alveolitis. Methods: a longitudinal, descriptive and prospective case-control study was carried out in "Jose Martí" dental clinic located

  7. Commuter exposure to inhalable, thoracic and alveolic particles in various transportation modes in Delhi.

    Science.gov (United States)

    Kumar, Pramod; Gupta, N C

    2016-01-15

    A public health concern is to understand the linkages between specific pollution sources and adverse health impacts. Commuting can be viewed as one of the significant-exposure activity in high-vehicle density areas. This paper investigates the commuter exposure to inhalable, thoracic and alveolic particles in various transportation modes in Delhi, India. Air pollution levels are significantly contributed by automobile exhaust and also in-vehicle exposure can be higher sometime than ambient levels. Motorcycle, auto rickshaw, car and bus were selected to study particles concentration along two routes in Delhi between Kashmere Gate and Dwarka. The bus and auto rickshaw were running on compressed natural gas (CNG) while the car and motorcycle were operated on gasoline fuel. Aerosol spectrometer was employed to measure inhalable, thoracic and alveolic particles during morning and evening rush hours for five weekdays. From the study, we observed that the concentration levels of these particles were greatly influenced by transportation modes. Concentrations of inhalable particles were found higher during morning in auto rickshaw (332.81 ± 90.97 μg/m(3)) while the commuter of bus exhibited higher exposure of thoracic particles (292.23 ± 110.45 μg/m(3)) and car commuters were exposed to maximum concentrations of alveolic particles (222.37 ± 26.56 μg/m(3)). We observed that in evening car commuters experienced maximum concentrations of all sizes of particles among the four commuting modes. Interestingly, motorcycle commuters were exposed to lower levels of inhalable and thoracic particles during morning and evening hours as compared to other modes of transport. The mean values were found greater than the median values for all the modes of transport suggesting that positive skewed distributions are characteristics of naturally occurring phenomenon. Copyright © 2015 Elsevier B.V. All rights reserved.

  8. CHANGES IN LUNG FUNCTION IN THE TREATMENT OF PATIENTS WITH EXOGENOUS ALLERGIC ALVEOLITIS

    OpenAIRE

    V. B. Nefedov; L. A. Popova; E. A. Shergina; N. N. Makaryants

    2014-01-01

    Total lung capacity (TLC), lung capacity (LC), forced LC (FLC), intrathoracic volume (ITV), pulmonary residual volume (PRV), forced expiratory volume in one second (FEV1 ), (FEV1 )/LC%, peak expiratory flow (PEF), maximum expiratory flow rate (MEFR)25, MEFR50, MEFR75, Raw, Rin, Rex, DLCO-SB, DLCO-SB/VА, РаО2 , and РаСО2 were determined in 43 patients with exogenous allergic alveolitis (EAA) before, during, and after treatment with glucocorticosteroids, hemapheresis, ambroxol, and fluimucil. L...

  9. Aplicación de la ozonoterapia en el tratamiento de la alveolitis

    Directory of Open Access Journals (Sweden)

    OLGA CRUZ GUERRA

    1997-06-01

    Full Text Available La etiología de la alveolitis es desconocida, pero existen factores que aumentan su incidencia como los traumatismos, las infecciones, la disminución del suministro vascular del hueso circunvecino y el estado sistémico general. En un grupo de pacientes se utilizó aceite de girasol ozonizado, Oleozon (como único medicamento, en el tratamiento de la alveolitis, y se comparó con un grupo control en el que se empleó Alvogil, además de antibiótico oral. La muestra fue de 100 pacientes adultos distribuidos aleatoriamente. Se realizaron curas cada 72 horas y tantas visitas a consulta como el caso lo requiriera. El criterio de curación tomado en cuenta fue la formación de tejido de cicatrización y la disminución o eliminación del dolor. Se alcanzó el 46 % de pacientes curados con Oleozon y el 41 % con Alvogil, sin diferencias significativas entre ambos grupos. El mayor número de pacientes necesitó de 2 a 3 visitas a consulta en los 2 grupos, aunque se observó que había un mayor número de pacientes en el grupo tratado con aceite ozonizado, con diferencias significativas (p=0,004 con respecto al grupo control. No se observó intolerancia al Oleozon.The etiology of alveolitis is unknown but there are some factors increasing its incidence, such as: traumatisms, infections, the reduction of the vascular supply of the circunjacent bone and the general systemic status. Ozonized sunflower oil was used as the only drug to treat alveolitis in a group of patients, and a comparison was made with a control group in which Alvogil eas used in addition to an oral antibiotic. The sample was composed of 100 adult patients distributed at random. Cures were made every 72 hours, and there were as many visits to the dentist's office as it was required. The cure criterion taken into consideration was the formation of cicatrization tissue and the reduction or erradication of pain. 46 % of the patients were cured with Oleozon and 41 % with Alvogil. There

  10. Scleroderma renal crisis and ovarian hyperstimulation syndrome related to the use of clomiphene in a patient with scleroderma.

    Science.gov (United States)

    Kobak, Senol; Hacivelioglu, Servet; Gungor, Selen

    2014-01-01

    This paper presented a 28-year-old female with systemic sclerosis who developed scleroderma renal crisis and ovarian hyperstimulation syndrome following clomiphene administration. Urgent therapy including angiotensin-converting enzyme (ACE) inhibitors and supportive care resulted in regression and eventually resolution of all the clinical and laboratory symptoms. Although scleroderma renal crisis is a fatal complication of high-dose corticosteroids, rarely is this seen with the use of ACE inhibitors. This case report aimed to investigate the potential capacity of the selective oestrogen receptor modulator clomiphene to induce scleroderma renal crisis as well as corticosteroids. Copyright © 2012 Elsevier España, S.L. All rights reserved.

  11. Oxidative stress parameters in localized scleroderma patients.

    Science.gov (United States)

    Kilinc, F; Sener, S; Akbaş, A; Metin, A; Kirbaş, S; Neselioglu, S; Erel, O

    2016-11-01

    Localized scleroderma (LS) (morphea) is a chronic, inflammatory skin disease with unknown cause that progresses with sclerosis in the skin and/or subcutaneous tissues. Its pathogenesis is not completely understood. Oxidative stress is suggested to have a role in the pathogenesis of localized scleroderma. We have aimed to determine the relationship of morphea lesions with oxidative stress. The total oxidant capacity (TOC), total antioxidant capacity (TAC), paroxonase (PON) and arylesterase (ARES) activity parameters of PON 1 enzyme levels in the serum were investigated in 13 LS patients (generalized and plaque type) and 13 healthy controls. TOC values of the patient group were found higher than the TOC values of the control group (p < 0.01). ARES values of the patient group was found to be higher than the control group (p < 0.0001). OSI was significantly higher in the patient group when compared to the control (p < 0.005). Oxidative stress seems to be effective in the pathogenesis. ARES levels have increased in morphea patients regarding to the oxidative stress and its reduction. Further controlled studies are required in wider series.

  12. [Morphea or juvenile localised scleroderma: Case report].

    Science.gov (United States)

    Strickler, Alexis; Gallo, Silvanna; Jaramillo, Pedro; de Toro, Gonzalo

    2016-01-01

    Morphea or juvenile localised scleroderma (JLS) is an autoimmune, inflammatory, chronic, slowly progressive connective tissue disease of unknown cause that preferably affects skin and underlying tissues. To report a case of Juvenil Localised scleroderma in an 8-year old girl, contributing to an early diagnosis and treatment. The case is presented of an 8 year-old girl who presented with indurated hypopigmented plaques, of linear distribution in the right upper extremity of two years onset, together with papery texture hyperpigmented indurated plaques with whitish areas of thinned skin in right lower extremity, and leg and ankle swelling. The clinical features and diagnostic tests, including histology were compatible with linear and pansclerotic JLS. She started with immunosuppressive therapy, physiotherapy, and occupational therapy. We report a case of linear and pansclerotic ELJ type, in which there was a 2 year delay in diagnosis, however the response to treatment was positive as expected. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  13. [Clinical characteristics of patients with juvenile localized scleroderma].

    Science.gov (United States)

    Sun, Qiu-Ning; Du, Wei; Hu, Bin; Liu, Pai; Yuan, Xie

    2009-02-01

    To investigate the clinical characteristics of juvenile localized scleroderma (JLS). The clinical data of 100 outpatients with JLS who were admitted to PUMC Hospital from 2000 to 2008 were retrospectively analyzed. Of a total of 100 cases, 51 (51%) were confirmed as linear scleroderma, 26 (26%) as plaque morphea, 26 (26%) as deep morphea, 12 (12%) as generalized morphea, and 15 (15%) as a mixed subtype. Nine patients (9%) had family histories of rheumatic or autoimmune diseases, while 16 (16%) might be triggered by unknown factors. Totally 84 patients underwent antinuclear antibody tests and 38 patients (45.2%) had positive results. Linear scleroderma are the most frequent subtype of JLS. Localized scleroderma may be associated with some autoimmune-related causes.

  14. Prevalence of asymptomatic coronary disease in fibrosing idiopathic interstitial pneumonias

    International Nuclear Information System (INIS)

    Cassagnes, Lucie; Gaillard, Vianney; Monge, Emmanuel; Faivre, Jean-Baptiste; Delhaye, Cédric; Molinari, Francesco; Petyt, Grégory; Hossein-Foucher, Claude; Wallaert, Benoit; Duhamel, Alain; Remy, Jacques; Remy-Jardin, Martine

    2015-01-01

    Background: Because of growing body of interest on the association between fibrosing idiopathic interstitial pneumonias (f-IIP) and ischaemic heart disease, we initiated this prospective study to evaluate the prevalence of asymptomatic coronary artery disease (CAD) in patients with f-IIP. Methods: Forty-two patients with f-IIP underwent noninvasive screening for CAD that included (a) a chest CT examination enabling calculation of the coronary artery calcium (CAC) score, then depiction of coronary artery stenosis; and (b) stress myocardial perfusion scintigraphy (MPS). Patients with significant coronary abnormalities, defined by a CAC score >400 or coronary artery stenosis >50% at CT and/or perfusion defect >5% at MPS, were referred to the cardiologist. Coronary angiography was indicated in presence of a perfusion defect >10% at MPS or significant left main or proximal left anterior descending stenosis whatever MPS findings. Results: Combining CT and MPS, significant abnormalities were detected in 32/42 patients (76%). The cardiologist: (a) did not consider further investigation in 21 patients (CT abnormalities but no ischaemia at MPS: 12/21; false-positive findings at MPS: 3/21; poor respiratory condition: 6/21); (b) proceeded to coronary angiography in 11 patients which confirmed significant stenoses in 5 patients (5/42; 12%). In the worst-case-scenario (i.e., inclusion of 6 patients with significant coronary artery abnormalities who were not investigated due to poor respiratory condition), the prevalence of CAD reached 26% (11/42). Conclusion: In the studied population of patients with f-IIP, asymptomatic CAD ranged between 12% and 26%

  15. Cicatricial organising pneumonia mimicking a fibrosing interstitial pneumonia.

    Science.gov (United States)

    Churg, Andrew; Wright, Joanne L; Bilawich, AnaMaria

    2018-04-01

    Organising pneumonia (OP) is composed of loose granulation tissue plugs in distal airspaces; these disappear with steroid treatment. Recently a variant labelled 'cicatricial' OP has been described in which the granulation tissue organised to much denser fibrous tissue but still retained the usual pattern of OP. Here we report 10 patients thought to have an interstitial lung disease, and who on biopsy had a variant of cicatricial OP characterised by linear bands or small nodular masses of dense fibrous tissue that does not resemble ordinary OP. The bands/nodules were usually distributed randomly but occasionally resembled fibrotic non-specific interstitial pneumonia in local areas. Small foci of loose granulation tissue at the edge of the fibrotic bands sometimes mimicked fibroblast foci. Recognisable conventional OP was always present, but often in very small amounts. Four cases, including one patient with Ehlers-Danlos syndrome, showed formation of bone in the fibrotic bands and nodules. On computerised tomography (CT) scan of the chest some cases looked like typical OP, but some demonstrated only irregularly distributed linear opacities, sometimes with associated calcification. Follow-up imaging on six cases showed that the process either markedly improved or remained stable over time; no case had progressive disease. Cicatricial OP with this pathological pattern represents an uncommon form of OP that appears to be a generally benign process which may have persisting linear opacities on CT scan but that does not progress; however, it can be confused on biopsy and CT with a fibrosing interstitial pneumonia. © 2017 John Wiley & Sons Ltd.

  16. Prevalence of asymptomatic coronary disease in fibrosing idiopathic interstitial pneumonias

    Energy Technology Data Exchange (ETDEWEB)

    Cassagnes, Lucie; Gaillard, Vianney [Department of Thoracic Imaging (EA 2694), Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Monge, Emmanuel [Department of Pulmonology, Center of Competence for Rare Pulmonary Diseases, Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Faivre, Jean-Baptiste [Department of Thoracic Imaging (EA 2694), Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Delhaye, Cédric [Department of Cardiology, Cardiology Hospital, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Molinari, Francesco [Department of Thoracic Imaging (EA 2694), Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Petyt, Grégory; Hossein-Foucher, Claude [Department of Nuclear Medicine, Hospital Salengro, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Wallaert, Benoit [Department of Pulmonology, Center of Competence for Rare Pulmonary Diseases, Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Duhamel, Alain [Department of Medical Statistics (EA 2694), Univ Lille Nord de France, F-59000 Lille (France); Remy, Jacques [Department of Thoracic Imaging (EA 2694), Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Remy-Jardin, Martine, E-mail: martine.remy@chru-lille.fr [Department of Thoracic Imaging (EA 2694), Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France)

    2015-01-15

    Background: Because of growing body of interest on the association between fibrosing idiopathic interstitial pneumonias (f-IIP) and ischaemic heart disease, we initiated this prospective study to evaluate the prevalence of asymptomatic coronary artery disease (CAD) in patients with f-IIP. Methods: Forty-two patients with f-IIP underwent noninvasive screening for CAD that included (a) a chest CT examination enabling calculation of the coronary artery calcium (CAC) score, then depiction of coronary artery stenosis; and (b) stress myocardial perfusion scintigraphy (MPS). Patients with significant coronary abnormalities, defined by a CAC score >400 or coronary artery stenosis >50% at CT and/or perfusion defect >5% at MPS, were referred to the cardiologist. Coronary angiography was indicated in presence of a perfusion defect >10% at MPS or significant left main or proximal left anterior descending stenosis whatever MPS findings. Results: Combining CT and MPS, significant abnormalities were detected in 32/42 patients (76%). The cardiologist: (a) did not consider further investigation in 21 patients (CT abnormalities but no ischaemia at MPS: 12/21; false-positive findings at MPS: 3/21; poor respiratory condition: 6/21); (b) proceeded to coronary angiography in 11 patients which confirmed significant stenoses in 5 patients (5/42; 12%). In the worst-case-scenario (i.e., inclusion of 6 patients with significant coronary artery abnormalities who were not investigated due to poor respiratory condition), the prevalence of CAD reached 26% (11/42). Conclusion: In the studied population of patients with f-IIP, asymptomatic CAD ranged between 12% and 26%.

  17. Frontal fibrosing alopecia and lichen planus pigmentosus: diagnosis and therapeutic challenge.

    Science.gov (United States)

    Mulinari-Brenner, Fabiane Andrade; Guilherme, Marina Riedi; Peretti, Murilo Calvo; Werner, Betina

    2017-01-01

    Frontal fibrosing alopecia is a variant of lichen planopilaris with marginal progressive hair loss on the scalp, eyebrows and axillae. We report a case of frontal fibrosing alopecia and lichen planus pigmentosus in a postmenopausal woman, that started with alopecia on the eyebrows and then on the frontoparietal region, with periocular and cervical hyperpigmentation of difficult management. The condition was controlled with systemic corticosteroid therapy and finasteride. Lichen planus pigmentosus is an uncommon variant of lichen planus frequently associated with frontal fibrosing alopecia in darker phototipes. It should be considered in patients affected by scarring alopecia with a pattern of lichen planopilaris and areas of skin hyperpigmentation revealing perifollicular hyperpigmentation refractory to multiple treatments. This case illustrates diagnostic and therapeutic challenge in face of scarring alopecia and perifollicular hyperpigmentation.

  18. Recurrent ovary cancer presenting with scleroderma - A rare case report

    OpenAIRE

    Sargin, Betul; Gurer, Gulcan; Bozbas, Gulnur; Noyan, Fatih; Barut, Kayra; Tataroglu, Canten

    2017-01-01

    Scleroderma is a chronic autoimmune multisystem disorder which is characterizedby progressive fibrosis of the skin and internal organs. Ovary cancers with sclerodermahave been reported in the literature. But recurrent ovary cancer with sclerodermahas not been reported before. Here, we report a 65 -year old female patient presentingwith recurrent ovary cancer and subsequently diagnosed with scleroderma. Due toliterature sources, this is the first case of presenting with recurrent ovary cancera...

  19. JUVENILE SCLERODERMA-what has changed in the meantime?

    Science.gov (United States)

    Adrovic, Amra; Sahin, Sezgin; Barut, Kenan; Kasapcopur, Ozgur

    2018-04-22

    Juvenile scleroderma is a rarely seen chronic connective tissue disorder characterized by stiffening of the skin. The frequency of the disease was reported as one per million. According to organ involvement, the disease is divided into two main forms: systemic and localized scleroderma. Since it is uncommon in children, many aspects of the disease remain discussable. With this review, we aimed to revise recent findings and new developments in this rare condition. Skin manifestations are most prominent feature of the systemic form, followed by musculoskeletal and vascular involvement. Cardiovascular, gastrointestinal and renal disorders are rare in childhood. Combination of disease modifying antirheumatic drugs (methotrexate, mycophenolate-mofetil, cyclosporine) and steroid reprents the first line therapy. Bosentan is used for cases with pulmonary hypertension and for extensive digital ulcerations. Biological treatment emerges as a useful treatment option in most severe form of the disease. Localized scleroderma is characterized with sclerodermatosis of the skin. Internal organ involvement is not expected. Classification of the local scleroderma is made according to the size and localization of the skin changes. There are few different therapeutical options but there is no specific therapy for the localized scleroderma. Many data regarding disease features and treatment options in juvenile scleroderma are based on studies among adults. There is a striking need for multicentric, prospective studies among children with juvenile scleroderma.Emerging biological agents and new treatment options are showing promising results. Anyhow, juvenile scleroderma remains a mystery with many aspects of the disease waiting to be solved. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  20. Echocardiographic study of the cardiac state in systemic scleroderma

    International Nuclear Information System (INIS)

    Kotel'nikova, G.P.; Guseva, N.G.

    1986-01-01

    Echocardiographic investigation in 65 patients with systemic scleroderma showed that the left ventricular syes and indices of central hemodynamics were frequently lowered in them; an increase in sizes was observed mainly in the patients with stage 2-3 of disease. Echocardiography made it possible to specify the nature of cardiac pathology and brought to light some additional features of the involvement of different heart membranes in systemic scleroderma

  1. Controvérsias na fibrose cística: do pediatra ao especialista

    Directory of Open Access Journals (Sweden)

    Ribeiro Jose Dirceu

    2002-01-01

    Full Text Available Objetivos: nos últimos 70 anos, a fibrose cística emergiu da obscuridade para o reconhecimento como a mais importante doença hereditária, potencialmente letal, incidente na raça branca. Embora seja uma doença genética, na qual o defeito básico acomete células de vários órgãos, nem todos os indivíduos expressam respostas clínicas na mesma intensidade. Várias manifestações clínicas, principalmente pulmonares e digestivas, podem ocorrer durante a vida dos pacientes fibrocísticos. O objetivo deste artigo é propiciar ao pediatra geral uma visão atualizada dos principais assuntos referentes à fibrose cística. Fontes dos dados: revisão sistemática e atualizada em fonte de dados oficial (Medline. Síntese dos dados: foram revisados 79 artigos sobre fibrose cística, de periódicos internacionais, colocando, de modo atual e crítico, os principais eventos relacionados com a incidência, a fisiopatogenia, as manifestações clínicas, o diagnóstico e o tratamento da fibrose cística. Conclusões: apesar de não existir cura para essa doença, muitos conhecimentos novos sobre a etiologia e a fisiopatologia, adquiridos nas duas últimas décadas, propiciaram uma nova abordagem para o tratamento da fibrose cística. A compreensão dos mecanismos básicos da doença pulmonar, bem como das manifestações digestivas na fibrose cística, decorrente dos conhecimentos de pesquisas recentes, tem sido a chave para o aumento da sobrevida e a melhora da qualidade de vida dos pacientes.

  2. Validation of the Social Interaction Anxiety Scale in scleroderma: A Scleroderma Patient-centered Intervention Network cohort study

    NARCIS (Netherlands)

    Gholizadeh, S.; Kwakkenbos, C.M.C.; Carrier, M.E.; Mills, S.D.; Fox, R.S.; Jewett, L.R.; Gottesman, K.; Roesch, S.C.; Thombs, B.D.; Malcarne, V.L.

    2018-01-01

    Introduction: Individuals with visible differences due to medical conditions, such as systemic sclerosis (SSc; scleroderma), have reported difficulty navigating social situations because of issues such as staring, invasive questions, and rude comments. Fears or anxiety linked to situations in which

  3. Idiopathic fibrosing pancreatitis: a rare cause of chronic obstructive jaundice in childhood

    International Nuclear Information System (INIS)

    Park, Hye Seong; Kim, Hyun Sook; Kim, Hack Hee; Kim, Ok Hwa; Kim, Choon Yul; Bahk, Yong Whee

    1992-01-01

    We report a 14-months-old infant who had obstructive jaundice caused by idiopathic fibrosing pancreatitis. Ultrasonography and abdominal computed tomography showed dilatation of the intrahepatic ducts, common bile duct, and the pancreatic duct. Diffuse swelling of the pancreas was also noted on CT. At laparotomy, the head portion of the pancreas revealed a stony hard consistency, and proliferation of fibrotic tissue was confirmed pathologically. Idiopathic fibrosing pancreatitis is a very rare disease entity in childhood, but should be considered in the differential diagnosis of obstructive jaundice in children who demonstrate bile duct and pancreatic duct dilatation and/or diffuse pancreas swelling

  4. Successful Treatment of Fibrosing Organising Pneumonia Causing Respiratory Failure with Mycophenolic Acid.

    Science.gov (United States)

    Paul, Christina; Lin-Shaw, Ammy; Joseph, Mariamma; Kwan, Keith; Sergiacomi, Gianluigi; Mura, Marco

    2016-01-01

    Organising pneumonia (OP) is usually promptly responsive to corticosteroid treatment. We describe a series of 3 cases of severe, progressive, biopsy-proven fibrosing OP causing respiratory failure. All cases presented with peribronchial and subpleural consolidations, had a fibro-inflammatory infiltrative component in the alveolar septa, and only had a partial and unsatisfactory response to corticosteroids. However, they responded to mycophenolic acid (MPA) treatment with resolution of respiratory failure as well as clinical and functional improvement. MPA as an additional treatment option for aggressive forms of fibrosing OP and interstitial lung disease needs to be further explored. © 2016 S. Karger AG, Basel.

  5. Treatment of GI dysmotility in scleroderma with the new enterokinetic agent prucalopride

    NARCIS (Netherlands)

    Boeckxstaens, G. E.; Bartelsman, J. F. W. M.; Lauwers, L.; Tytgat, G. N. J.

    2002-01-01

    Scleroderma is a multisystem disorder frequently resulting in disturbed GI motility. Although, especially early in the disease, symptomatic improvement is achieved with prokinetic agents, more severe GI manifestations of scleroderma may be difficult to treat, leading to parenteral feeding and

  6. Novel Insights Into Causes of Scleroderma Offer Potential New Treatment Strategies

    Science.gov (United States)

    ... Spotlight on Research Novel Insights Into Causes of Scleroderma Offer Potential New Treatment Strategies By Kirstie Saltsman, Ph.D. | December 15, 2013 In scleroderma, immune cells invade the skin, but the role ...

  7. Lung diffusion of soluble radioaerosols in scleroderma

    International Nuclear Information System (INIS)

    Chopra, S.K.; Taplin, G.V.; Tashkin, D.P.; Elam, D.

    1978-01-01

    Diffusion rates of soluble radioaerosols of sodium pertechnetate (/sup 99m/TcO 4 ; mol. wt. 163) and diethylentriaminepentaacetate (/sup 99m/Tc-DTPA; mol. wt. 492) were determined in ten normal subjects and ten patients with scleroderma having lung involvement. Twenty millicuries (mCi) each of /sup 99m/TcO 4 and /sup 99m/Tc-DTPA in 5 ml saline were aerosolized and inhaled on two different days. Initial lung retention after three minutes of administration was approximately 2 mCi. Two regions of interest over each posterior lung field were monitored with a scintillation camera and data were stored on magnetic tape. Decreasing levels of radioactivity were plotted semilogarithmically and half time (T 1 / 2 ) removal rates were calculated

  8. Evaluation of liver function tests in scleroderma patients.

    Science.gov (United States)

    Salem, Gehan Ibrahim Abdelrazek; Abdulrahman, Awni Ali

    2012-08-01

    Systemic sclerosis is a clinically heterogeneous, systemic disorder which affects the connective tissue of the skin, internal organs, and the walls of blood vessels. It is characterized by alterations of the microvasculature, disturbances of the immune system and by massive deposition of collagen and other matrix substances in the connective tissue. This study was done to evaluate the frequency of liver disease in patients with scleroderma and, secondarily, to study the frequency of infection of hepatitis B and C virus in these patients and determine frequency of serum auto-antibodies in this disease. We studied patients with scleroderma, localized or systemic, in the outpatient clinic of rheumatology and dermatology departments, at King Khalid University Hospital. As for a comparison, healthy persons coming to the clinic with the same mean age were considered as control group. Forty patients with the diagnosis of scleroderma included in this work, 35% had elevated gamma-glutamyl-transferase (γ-GT), 30% had elevated alkaline phosphatase (AP) and in 17.5%, the alanine-amino-transferase (ALT) was above the reference values. The ALT had changed to be more in scleroderma patients than in controls. Twenty percent (20%) of the patients tested positive for anti-smooth muscle antibodies (anti-SMA) and only one patient had anti-mitochondrial antibodies (AMA). There was no statistical difference between the two groups regarding antibody testing. Anti-HCV antibodies were observed in one patient, and HBsAg was detected in another scleroderma patient. There was no patient with clinically significant hepatic disease. In this study, although changes in liver enzymes in patients with scleroderma were not uncommon, there was no scleroderma patient with clinical manifestations of liver disease.

  9. Fibrose quística em adultos

    Directory of Open Access Journals (Sweden)

    C. Damas

    2007-05-01

    Full Text Available Resumo: Os autores efectuaram uma revisão de doentes adultos com fibrose quística (FQ, seguidos na consulta de Pneumologia no período de 1994-2004 (n=8: cinco mulheres e três homens, com idades compreendidas entre 20 e 34 anos (mediana=27 anos, cuja idade de diagnóstico variou entre os 18 meses e os 31 anos. O diagnóstico foi obtido por prova de suor (positiva em seis doentes e estudo genético (homozigotia para a mutação ΔF508 em quatro doentes. O atingimento respiratório traduziu-se por sinusite e bronquiectasias, acompanhando-se o envolvimento pulmonar por alterações funcionais e também gaso-métricas na maioria dos doentes, ainda que de gravidade variável e não relacionada com a idade de diagnóstico. Verificou-se colonização da árvore brônquica em cinco doentes: Pseudomonas aeruginosa em quatro e Staphilococcus aureus em quatro (verificando-se coloni-zação concomitante por estes agentes em três. As principais causas de exacerbação foram infecções res-piratórias e hemoptises. Quanto ao atingimento não respiratório, quatro doentes apresentavam envolvimento digestivo (com cirrose hepática num caso, um insuficiência renal em hemo-diálise, e em apenas um foi efectuado espermograma para documentação de infertilidade. Quatro doentes tinham osteopenia documentada por densitometria óssea. As medidas terapêuticas mais utilizadas foram a cine-siterapia, os broncodilatadores, a alfa-dornase, muco-líticos, suplementos vitamínicos e enzimáticos, antibio-terapia e oxigenoterapia. Relativamente à evolução, uma doente abandonou a consulta, uma doente faleceu, um doente aguardava transplante pulmonar e os restantes mantiveram as suas características clínicas habituais. Neste grupo, a gravidade da doença pulmonar não se relacionou com o diagnóstico mais tardio, o que se pode dever à diversidade de apresenta

  10. [Extrinsic allergic alveolitis. Clinical experience at the Instituto National de Enfermedades Respiratorias (INER)].

    Science.gov (United States)

    Chapela-Mendoza, R; Selman-Lama, M

    1999-01-01

    Extrinsic allergic alveolitis is an interstitial lung disease caused by exposure to a variety of inhaled antigens. In Mexico, the most frequent form is due to the inhalation of avian antigens, markedly pigeon proteins. Depending on type and time exposure, the disease presents different clinical forms usually characterized by progressive dyspnea, ground glass or reticulonodular images on chest x rays, a restrictive functional pattern, rest hypoxemia worsening with exercise, and increase of T lymphocytes in bronchoalveolar lavage with an inversion in the helper/suppressor ratio. In this paper, we discuss a 15-year experience with this pathological problem in Mexico, emphasizing the differences with this disorder in Caucasian populations. Generally, our patients display a chronic form of the disease, which evolves to fibrosis in about one-half of the patients. In this sense, the diagnostic, prognostic, and therapeutic focusing exhibit different elements, and thus the development of clinical and basic research is strongly required.

  11. [Acute alveolitis after using a waterproofing aerosol: apropos of 2 cases].

    Science.gov (United States)

    Testud, F; Gabrielle, L; Paquin, M L; Descotes, J

    1998-04-01

    Waterproofing sprays for leather clothing have seldom been involved in severe accidents. In some circumstances, their pulmonary toxicity is marked, as shown by two case reports and a review of the literature. Acute alveolitis is described in two young adults without previous respiratory illness, following the use of a waterproofing spray for leather clothing. Clinical features typical of a flu-like reaction (malaise, fever and chills) were associated with dyspnea and with hemoptysis in one patient. X-ray examination evidenced lesional edema which quickly resolved after symptomatic treatment. The toxic mechanism is debated, but experimental data and clinical findings suggest the causative role of recently introduced fluoropolymers. Waterproofing sprays for leather clothing may induce severe respiratory illness after massive inhalation in confined area. Treatment is supportive.

  12. CHANGES IN LUNG FUNCTION IN THE TREATMENT OF PATIENTS WITH EXOGENOUS ALLERGIC ALVEOLITIS

    Directory of Open Access Journals (Sweden)

    V. B. Nefedov

    2014-01-01

    Full Text Available Total lung capacity (TLC, lung capacity (LC, forced LC (FLC, intrathoracic volume (ITV, pulmonary residual volume (PRV, forced expiratory volume in one second (FEV1 , (FEV1 /LC%, peak expiratory flow (PEF, maximum expiratory flow rate (MEFR25, MEFR50, MEFR75, Raw, Rin, Rex, DLCO-SB, DLCO-SB/VА, РаО2 , and РаСО2 were determined in 43 patients with exogenous allergic alveolitis (EAA before, during, and after treatment with glucocorticosteroids, hemapheresis, ambroxol, and fluimucil. Lung function became better in more than half (53.5% of the patients and worse in one fourth (25.6%; a combination of positive and negative functional changes was detected in 14.0%. Improved lung function was noted in 75.0, 50.0, and 38.5% of the patients with acute, subacute, and chronic EAA, respectively. Deterioration of lung function was determined in 46.2, 22.2, and 8.3% of the patients with chronic, subacute, and acute alveolitis, respectively. Better lung function manifested itself mainly as positive changes in lung volumes and capacities and pulmonary gas exchange function, less frequently as improved bronchial patency in the patients with acute and subacute EAA whereas the rate of positive functional changes in lung volumes and capacities, bronchial patency, and pulmonary gas exchange function was equal in those with chronic EAA. Poorer lung function appeared as negative changes in lung volumes and capacities in the patients with acute EAA, as worse pulmonary gas exchange function and negative changes in lung volumes and capacities and deteriorated bronchial patency in those with subacute and chronic EAA.

  13. Avaliação de parâmetros histológicos na pneumonia intersticial usual (fibrose pulmonar idiopática Evaluation of the histological parameters in usual interstitial pneumonia (idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    RIMARCS GOMES FERREIRA

    2000-12-01

    Full Text Available A fibrose pulmonar idiopática (alveolite fibrosante criptogênica é uma doença pulmonar intersticial progressiva de etiologia desconhecida, morfologicamente reconhecida como pneumonia intersticial usual. Desde a publicação de Hamman e Rich (1944 até os dias atuais, uma das grandes preocupações foi a tentativa de encontrar um marcador histológico para correlacionar com prognóstico e resposta terapêutica. A busca desta situação não tem sido muito alentadora, pois existem vários pontos duvidosos na patogênese desta doença. Admite-se que a resposta terapêutica desta entidade se relaciona com a celularidade e fibrose presentes no tecido. A proposta deste estudo é descrever os resultados de método semiquantitativo segundo a avaliação independente de dois patologistas, das alterações exsudativo-inflamatórias, reparativo-fibróticas e de vias aéreas, em 24 pacientes com diagnóstico de fibrose pulmonar idiopática, submetidos à biópsia a céu aberto. Foram analisados 14 parâmetros histológicos segundo escala de 0 a 5 para as alterações intersticiais e de 0 a 2 para o comprometimento de vias aéreas e de espaços aéreos. Da análise independente realizada pelos dois observadores constatou-se concordância significante em todas as variáveis histológicas com Kw (teste de Kappa indo de 0,47 a 0,92. Apenas na análise da intensidade da inflamação septal as discordâncias também foram significantes, sugerindo que para este parâmetro a percentagem de comprometimento tecidual deve ser previamente discutida entre os observadores. O método utilizado demonstrou ser rápido e eficiente.Idiopathic pulmonary fibrosis (cryptogenic fibrosing alveolitis is a progressive interstitial pulmonary disease of unknown etiology. Since Hamman's and Rich's (1944 reports, many studies have tried to find a histological marker for the correlation between prognosis and response to therapy. However, there are many doubts regarding pathogenesis

  14. Dispneia expiratória restritiva em um gato com fibrose pulmonar idiopática: relato de caso

    OpenAIRE

    Pereira, C.O.; Costa, F.V.A.; Gomes, D.C.; Kasper, P.N.; Vieira, A.B.; Driemeier, D.

    2017-01-01

    RESUMO As doenças pulmonares intersticiais constituem um grupo de doenças difusas do parênquima pulmonar, no qual a fibrose pulmonar intersticial está incluída. Histologicamente, esta se caracteriza por hiperplasia de pneumócitos tipo II, hiperplasia ou hipertrofia de músculo liso e fibrose. Embora a patogenia da fibrose pulmonar intersticial não esteja bem elucidada, devido às semelhanças microscópicas encontradas nos pneumócitos tipo II em felinos e na forma familiar da doença em humanos, a...

  15. Biomarkers in Scleroderma: Progressing from Association to Clinical Utility.

    Science.gov (United States)

    Ligon, Colin; Hummers, Laura K

    2016-03-01

    Scleroderma is a heterogenous disease characterized by autoimmunity, a characteristic vasculopathy, and often widely varying extents of deep organ fibrosis. Recent advances in the understanding of scleroderma's evolution have improved the ability to identify subgroups of patients with similar prognosis in order to improve risk stratification, enrich clinical trials for patients likely to benefit from specific therapies, and identify promising therapeutic targets for intervention. High-throughput technologies have recently identified fibrotic and inflammatory effectors in scleroderma that exhibit strong prognostic ability and may be tied to disease evolution. Increasingly, the use of collections of assayed circulating proteins and patterns of gene expression in tissue has replaced single-marker investigations in understanding the evolution of scleroderma and in objectively characterizing disease extent. Lastly, identification of shared patterns of disease evolution has allowed classification of patients into latent disease subtypes, which may allow rapid clinical prognostication and targeted management in both clinical and research settings. The concept of biomarkers in scleroderma is expanding to include nontraditional measures of aggregate protein signatures and disease evolution. This review examines the recent advances in biomarkers with a focus on those approaches poised to guide prospective management or themselves serve as quantitative surrogate disease outcomes.

  16. Predictors of Longitudinal Quality of Life in Juvenile Localized Scleroderma.

    Science.gov (United States)

    Ardalan, Kaveh; Zigler, Christina K; Torok, Kathryn S

    2017-07-01

    Localized scleroderma can negatively affect children's quality of life (QoL), but predictors of impact have not been well described. We sought to identify predictors of QoL impact in juvenile localized scleroderma patients. We analyzed longitudinal data from a single-center cohort of juvenile localized scleroderma patients, using hierarchical generalized linear modeling (HGLM) to identify predictors of QoL impact. HGLM is useful for nested data and allows for evaluation of both time-variant and time-invariant predictors. The number of extracutaneous manifestations (ECMs; e.g., joint contracture and hemifacial atrophy) and female sex predicted negative QoL impact, defined as a Children's Dermatology Life Quality Index score >1 (P = 0.019 for ECMs and P = 0.002 for female sex). As the time since the initial visit increased, the odds of reporting a negative QoL impact decreased (P scleroderma than cutaneous features. Further study is required to determine which ECMs have the most impact on QoL, which factors underlie sex differences in QoL in localized scleroderma, and why increasing the time since the initial visit appears to be protective. An improved understanding of predictors of QoL impact may allow for the identification of patients at risk of poorer outcomes and for the tailoring of treatment and psychosocial support. © 2016, American College of Rheumatology.

  17. Race and Association With Disease Manifestations and Mortality in Scleroderma

    Science.gov (United States)

    Manno, Rebecca L.; Shah, Ami A.; Woods, Adrianne; Le, Elizabeth N.; Boin, Francesco; Hummers, Laura K.; Wigley, Fredrick M.

    2013-01-01

    Abstract Experience suggests that African Americans may express autoimmune disease differently than other racial groups. In the context of systemic sclerosis (scleroderma), we sought to determine whether race was related to a more adverse expression of disease. Between January 1, 1990, and December 31, 2009, a total of 409 African American and 1808 white patients with scleroderma were evaluated at a single university medical center. While the distribution by sex was virtually identical in both groups, at 82% female, African American patients presented to the center at a younger mean age than white patients (47 vs. 53 yr; p scleroderma-specific autoantibody status, and for the socioeconomic measures of educational attainment and health insurance status, diminished these risk estimates (RR, 1.3; 95% CI, 1.0–1.6). The heightened risk of mortality persisted in strata defined by age at disease onset, diffuse cutaneous disease, anticentromere seropositivity, decade of care at the center, and among women. These findings support the notion that race is related to a distinct phenotypic profile in scleroderma, and a more unfavorable prognosis among African Americans, warranting heightened diagnostic evaluation and vigilant care of these patients. Further, we provide a chronologic review of the literature regarding race, organ system involvement, and mortality in scleroderma; we furnish synopses of relevant reports, and summarize findings. PMID:23793108

  18. Cancer and Scleroderma: A Paraneoplastic Disease with Implications for Malignancy Screening

    Science.gov (United States)

    Shah, Ami A.; Rosen, Livia Casciola

    2015-01-01

    Purpose of review Recent data suggest a paraneoplastic mechanism of scleroderma pathogenesis in unique subsets of scleroderma patients. In this article, we review these data, explore potential links between cancer and scleroderma, and propose an approach to malignancy screening in scleroderma. Recent findings Emerging data have demonstrated that patients with scleroderma and RNA polymerase III autoantibodies have a significantly increased risk of cancer within a few years of scleroderma onset. Genetic alterations in the gene encoding RNA polymerase III (POLR3A) have been identified, and patients with somatic mutations in POLR3A have evidence of mutation specific T cell immune responses with generation of cross-reactive RNA polymerase III autoantibodies. These data strongly suggest that scleroderma is a by-product of anti-tumor immune responses in some patients. Additional epidemiologic data demonstrate that patients developing scleroderma at older ages may also have a short cancer-scleroderma interval, suggestive of paraneoplastic disease. Summary Scleroderma may be a paraneoplastic disease in unique patient subsets. Aggressive malignancy screening in these patients may aid in early cancer detection. Further study is required to determine whether cancer therapy could improve scleroderma outcomes in this patient population. PMID:26352736

  19. Scleroderma and dentistry: Two case reports.

    Science.gov (United States)

    Dixit, Shantanu; Kalkur, Chaithra; Sattur, Atul P; Bornstein, Michael M; Melton, Fred

    2016-10-24

    Scleroderma is a chronic connective tissue disorder with unknown etiology. It is characterized by excessive deposition of extracellular matrix in the connective tissues causing vascular disturbances which can result in tissue hypoxia. These changes are manifested as atrophy of the skin and/or mucosa, subcutaneous tissue, muscles, and internal organs. Such changes can be classified into two types, namely, morphea (localized) and diffuse (systemic). Morphea can manifest itself as hemifacial atrophy (Parry-Romberg syndrome) although this remains debatable. Hence, we present a case of morphea, associated with Parry-Romberg syndrome, and a second case with the classical signs of progressive systemic sclerosis. Case one: A 20-year-old man of Dravidian origin presented to our out-patient department with a complaint of facial asymmetry, difficulty in speech, and loss of taste sensation over the last 2 years. There was no history of facial trauma. After physical and radiological investigations, we found gross asymmetry of the left side of his face, a scar on his chin, tongue atrophy, relative microdontia, thinning of the ramus/body of his mandible, and sclerotic lesions on his trunk. Serological investigations were positive for antinuclear antibody for double-stranded deoxyribonucleic acid and mitochondria. A biopsy was suggestive of morphea. Hence, our final diagnosis was mixed morphea with Parry-Romberg syndrome. Case two: A 53-year-old woman of Dravidian origin presented to our out-patient department with a complaint of gradually decreasing mouth opening over the past 7 years. Her medical history was noncontributory. On clinical examination, we found her perioral, neck, and hand skin to be sclerotic. Also, her fingers exhibited bilateral telangiectasia. An oral examination revealed completely edentulous arches as well as xerostomia and candidiasis. Her serological reports were positive for antinuclear antibodies against centromere B, Scl-70, and Ro-52. A hand and

  20. German guidelines for the diagnosis and therapy of localized scleroderma.

    Science.gov (United States)

    Kreuter, Alexander; Krieg, Thomas; Worm, Margitta; Wenzel, Jörg; Moinzadeh, Pia; Kuhn, Annegret; Aberer, Elisabeth; Scharffetter-Kochanek, Karin; Horneff, Gerd; Reil, Emma; Weberschock, Tobias; Hunzelmann, Nicolas

    2016-02-01

    Localized scleroderma designates a heterogeneous group of sclerotic skin disorders. Depending on the subtype, severity, and site affected, adjacent structures such as adipose tissue, muscles, joints, and bones may be involved. This is an update of the existing German AWMF (Association of the Scientific Medical Societies in Germany) guidelines (classification: S2k). These guidelines provide an overview of the definition, epidemiology, classification, pathogenesis, laboratory workup, histopathology, clinical scoring systems, as well as imaging and device-based workup of localized scleroderma. Moreover, consensus-based recommendations are given on the management of localized scleroderma depending on its clinical subtype. Treatment recommendations are presented in a therapeutic algorithm. No financial support was given by any pharmaceutical company. The guidelines are valid until July 2019. © 2016 The Authors | Journal compilation © Blackwell Verlag GmbH, Berlin.

  1. Evaluation of mean platelet volume in localized scleroderma.

    Science.gov (United States)

    Bahali, Anil Gulsel; Su, Ozlem; Emiroglu, Nazan; Cengiz, Fatma Pelin; Kaya, Mehmet Onur; Onsun, Nahide

    2017-01-01

    Localized scleroderma is a chronic inflammatory skin disease characterized by sclerosis of the dermis and subcutaneous tissue. Platelets play an important role in inflammation. Following activation, platelets rapidly release numerous mediators and cytokines, which contribute to inflammation. To evaluate whether there was any relation between localized scleroderma and platelet parameters. Forty-one patients with localized scleroderma were enrolled in the study. The control group consisted of 30 healthy subjects. The mean platelet volume level in the patient group was 9.9 ± 1.3 fl and in the control group was 7.6 ± 1.1 fl. This difference was statistically significant (pscleroderma. Platelet parameters may be used as markers for evaluating disease severity and inflammatory processes. Thus, there is a need for more detailed and prospective studies.

  2. Failure to wean caused by cryptogenic fibrosing pleuritis and bilateral lung trapping: case report Falência do desmame em paciente com fibrose pleural idiopática e trapping pulmonar bilateral: relato de caso

    Directory of Open Access Journals (Sweden)

    Elsemiek Verweel

    2007-12-01

    Full Text Available BACKGROUND AND OBJECTIVES: Cryptogenic fibrosing pleuritis is an extremely rare disease, which can affect both lungs from a very young age. The most common finding is severe lung restriction resulting in both hypoxemic and ventilatory failure. CASE REPORT: Male patient, 26 year old with acute deterioration of chronic respiratory failure. Following admission prolonged mechanical ventilation was necessary. An atypical clinical presentation made the diagnosis difficult, but eventually cryptogenic fibrosing pleuritis and lung fibrosis were established. CONCLUSIONS: The prognostic outcome of patients with the final diagnosis of cryptogenic fibrosing pleuritis is extremely poor, especially in an advanced phase of this disease. We recommend early treatment with corticosteroids or surgical pleural decortication.JUSTIFICATIVA E OBJETIVOS: Fibrose pleural idiopática é uma doença rara e pode afetar ambos pulmões já desde uma idade precoce. O achado mais comum na fibrose pleural idiopática é uma restrição pulmonar grave que pode levar a um quadro de falência respiratória e hipoxemia. RELATO DO CASO: Paciente do sexo masculino, 26 anos, internado com reagudização de insuficiência respiratória crônica e submetido à ventilação mecânica prolongada. Após intensa investigação e uma apresentação clínica atípica, foi estabelecido o diagnóstico de fibrose pleural idiopática associado à fibrose pulmonar. CONCLUSÕES: O prognóstico de pacientes com fibrose pleural idiopática é extremamente ruim, particularmente em fase avançada da doença. Recomenda-se o tratamento precoce com corticosteróides ou decorticação pleural cirúrgica.

  3. Scleroderma of geriatric age and scleroderma-like paraneoplastic syndrome – description of two cases

    Directory of Open Access Journals (Sweden)

    Magdalena Marek

    2016-06-01

    Full Text Available Systemic sclerosis (Ssc is an autoimmune connective tissue disease of unknown origin, characterized by progressive fibrosis of the skin and internal organs. Immune reactions taking part in Ssc pathogenesis may contribute to cancer development; therefore patients with risk factors for this disease require observation for a neoplastic process. On the other hand, symptoms of Ssc may be a mask of various cancers. Differentiating between the idiopathic form of Ssc and scleroderma-like paraneoplastic syndrome often causes a lot of difficulties. The article presents two cases of Ssc at the beginning of the disease after 60 years of age. The first case was diagnosed as Ssc, whereas in the second case the defined diagnosis was scleroderma-like syndrome in the course of colorectal cancer. This paper presents an analysis of differential diagnostic procedures which were performed and led to the final diagnosis, mentions types of cancers co-occurring with Ssc and suggests a screening scheme for cancer development in patients with a diagnosis of Ssc.

  4. Molecular subsets in the gene expression signatures of scleroderma skin.

    Directory of Open Access Journals (Sweden)

    Ausra Milano

    2008-07-01

    Full Text Available Scleroderma is a clinically heterogeneous disease with a complex phenotype. The disease is characterized by vascular dysfunction, tissue fibrosis, internal organ dysfunction, and immune dysfunction resulting in autoantibody production.We analyzed the genome-wide patterns of gene expression with DNA microarrays in skin biopsies from distinct scleroderma subsets including 17 patients with systemic sclerosis (SSc with diffuse scleroderma (dSSc, 7 patients with SSc with limited scleroderma (lSSc, 3 patients with morphea, and 6 healthy controls. 61 skin biopsies were analyzed in a total of 75 microarray hybridizations. Analysis by hierarchical clustering demonstrates nearly identical patterns of gene expression in 17 out of 22 of the forearm and back skin pairs of SSc patients. Using this property of the gene expression, we selected a set of 'intrinsic' genes and analyzed the inherent data-driven groupings. Distinct patterns of gene expression separate patients with dSSc from those with lSSc and both are easily distinguished from normal controls. Our data show three distinct patient groups among the patients with dSSc and two groups among patients with lSSc. Each group can be distinguished by unique gene expression signatures indicative of proliferating cells, immune infiltrates and a fibrotic program. The intrinsic groups are statistically significant (p<0.001 and each has been mapped to clinical covariates of modified Rodnan skin score, interstitial lung disease, gastrointestinal involvement, digital ulcers, Raynaud's phenomenon and disease duration. We report a 177-gene signature that is associated with severity of skin disease in dSSc.Genome-wide gene expression profiling of skin biopsies demonstrates that the heterogeneity in scleroderma can be measured quantitatively with DNA microarrays. The diversity in gene expression demonstrates multiple distinct gene expression programs in the skin of patients with scleroderma.

  5. Parry-Romberg Syndrome Associated with Localized Scleroderma

    Directory of Open Access Journals (Sweden)

    Jelena Maletic

    2010-06-01

    Full Text Available Parry-Romberg syndrome is a rare neurocutaneous disorder of unknown origin. It is characterized by progressive facial hemiatrophy and frequently overlaps with a condition known as linear scleroderma ‘en coup de sabre’. Neurological involvement is frequently described in these patients, including migraine, facial pain and epilepsy, which represent the commonest neurological conditions, sometimes associated with brain abnormalities ipsilaterally to the skin lesions. We present a case of Parry-Romberg syndrome with neurological involvement in a patient with diagnosed localized scleroderma (morphea.

  6. Limited scleroderma and early detection of visceral changes

    International Nuclear Information System (INIS)

    Kalyuzhnaya, L.D.; Potsibina, V.V.; Stychinskaya, L.P.; Turik, N.V.

    1989-01-01

    The state of liver, kidneys, osteoarticular apparatus at the early stages of development of limited scleroderma and with the exclusion of visceral changes on the basis of clinical-laboratory studies is investigated. 11 patients with scleroderma in the age of 7-18 years were examined. Osteoscintigraphy with 99m TC-phosphone and dynamic scintigraphy of kidneys without additional introduction of RF, and hepatocholecyctoscintigraphy with 99m tc-HIPA of the patients were realized. The conclusion is made that radionuclide investigation methods permit to reveal various visceral changes, which are not recognizable by clinical methods

  7. Parry-Romberg Syndrome Associated with Localized Scleroderma

    Science.gov (United States)

    Maletic, Jelena; Tsirka, Vassiliki; Ioannides, Panos; Karacostas, Dimitrios; Taskos, Nikolaos

    2010-01-01

    Parry-Romberg syndrome is a rare neurocutaneous disorder of unknown origin. It is characterized by progressive facial hemiatrophy and frequently overlaps with a condition known as linear scleroderma ‘en coup de sabre’. Neurological involvement is frequently described in these patients, including migraine, facial pain and epilepsy, which represent the commonest neurological conditions, sometimes associated with brain abnormalities ipsilaterally to the skin lesions. We present a case of Parry-Romberg syndrome with neurological involvement in a patient with diagnosed localized scleroderma (morphea). PMID:20671858

  8. [Alveolitis and fibrosis of the lung within the drainage area of a hospital for diseases of the lung (author's transl)].

    Science.gov (United States)

    Liebetrau, G

    1981-01-01

    Within the drainage area of the Central Hospital for Diseases of Heart and Lungs at Bad Berka/ GDR 337 persons (210 male, 127 female) with alveolitis and pulmonary fibrosis were observed during a period of 17 years (1963-1979). The average-age of the patient was 43.5 (11-70) years. The mean duration of the illness was to 9 years. The time elapsing up to the confirmation of the diagnosis amounts to approximately 4.35 years. The yearly incidence of alveolitis and pulmonary fibrosis are estimated at one case among 40,000 people. During the last years more attention has been given to these diseases but there seems to be also a true increase of the frequency of these conditions.

  9. Comparative evaluations of the results of common X-ray examinations and computerized tomography in patients with exogenous allergic alveolitis

    International Nuclear Information System (INIS)

    Khomenko, A.G.; Dmitrieva, L.I.; Khikkel', Kh.G.; Myuller, S.

    1989-01-01

    A correlative study of the results of x-ray examination using routine methods and computerized tomography (CT) was conducted to specify the roentgenomorphological substrate of changes in patients with exogenous allergic alveolitis. The established complex of routine methods is informative enough to interpret the revealed changes. However, at early stages CT helps to specify semiotics and permits obtaining additional information, particularly on quantitative, i.e. densitometric changes. In diffuse and disseminated pulmonary lesions CT can be used as an additional method

  10. CFD Simulation and Experimental Validation of Fluid Flow and Particle Transport in a Model of Alveolated Airways.

    Science.gov (United States)

    Ma, Baoshun; Ruwet, Vincent; Corieri, Patricia; Theunissen, Raf; Riethmuller, Michel; Darquenne, Chantal

    2009-05-01

    Accurate modeling of air flow and aerosol transport in the alveolated airways is essential for quantitative predictions of pulmonary aerosol deposition. However, experimental validation of such modeling studies has been scarce. The objective of this study is to validate CFD predictions of flow field and particle trajectory with experiments within a scaled-up model of alveolated airways. Steady flow (Re = 0.13) of silicone oil was captured by particle image velocimetry (PIV), and the trajectories of 0.5 mm and 1.2 mm spherical iron beads (representing 0.7 to 14.6 mum aerosol in vivo) were obtained by particle tracking velocimetry (PTV). At twelve selected cross sections, the velocity profiles obtained by CFD matched well with those by PIV (within 1.7% on average). The CFD predicted trajectories also matched well with PTV experiments. These results showed that air flow and aerosol transport in models of human alveolated airways can be simulated by CFD techniques with reasonable accuracy.

  11. Exploring Sources of Emotional Distress among People Living with Scleroderma: A Focus Group Study.

    Directory of Open Access Journals (Sweden)

    Stephanie T Gumuchian

    Full Text Available Systemic sclerosis, or scleroderma, is a chronic and rare connective tissue disease with negative physical and psychological implications. Sources of emotional distress and the impact they have on the lives of people with scleroderma are not well understood.To gain an in-depth understanding of the emotional experiences and sources of emotional distress for women and men living with scleroderma through focus group discussions.Three semi-structured focus group discussions were conducted (two in English, one in French with a total of 22 people with scleroderma recruited through the Scleroderma Society of Ontario in Hamilton, Ontario and a scleroderma clinic in Montreal, Canada. Interviews were recorded, transcribed, and then coded for emerging themes using thematic inductive analysis.Core themes representing sources of emotional distress were identified, including: (a facing a new reality; (b the daily struggle of living with scleroderma; (c handling work, employment and general financial burden; (d changing family roles; (e social interactions; and (f navigating the health care system. Collectively, these themes refer to the stressful journey of living with scleroderma including the obstacles faced and the emotional experiences beginning prior to receiving a diagnosis and continuing throughout the participants' lives.Scleroderma was portrayed as being an unpredictable and overwhelming disease, resulting in many individuals experiencing multiple sources of emotional distress. Interventions and supportive resources need to be developed to help individuals with scleroderma and people close to them manage and cope with the emotional aspects of the disease.

  12. Tratamiento de la alveolitis dental con tintura de propóleos al 5 %

    Directory of Open Access Journals (Sweden)

    Ada Vivian Bravo Venero

    Full Text Available Objetivo: comparar la efectividad entre el tratamiento con tintura de propóleos al 5 % y el tratamiento farmacológico convencional en pacientes diagnosticados con alveolitis dental. Métodos: se realizó un estudio descriptivo, prospectivo, de corte longitudinal de casos y controles en la Clínica Estomatológica "José Martí" del municipio Consolación del Sur, durante el 2009. El universo estuvo constituido por 90 pacientes, los cuales se dividieron en dos grupos de tratamiento diferentes de manera aleatoria, teniendo en cuenta un grupo de casos (grupo I conformado por 30 pacientes a los que se les aplicó tratamiento con tintura de propóleos al 5 %, y otro grupo de controles (grupo II con 60 pacientes tratados con la terapéutica medicamentosa convencional. Para el procesamiento de los datos se utilizaron métodos de estadística descriptiva e inferencial. Resultados: en ambos grupos de tratamiento prevaleció el sexo femenino y hubo un predominio de la alveolitis en el grupo de edad entre los 46 y 60 años. El grupo I logró la remisión de los síntomas entre el segundo (36,6 % y el tercer días de tratamiento (60 % y solo un paciente requirió tratamiento por 5 días; mientras el grupo II requirió de un mayor período para la evolución del cuadro, entre 5 y 7 días de tratamiento para un 61,3 % (27 pacientes y 23,3 % (14 pacientes. Conclusiones: el tratamiento con tintura de propóleos al 5 % resultó altamente efectivo, pues aportó una remisión más notoria de los síntomas, ya que se observó una disminución de estos, así como la disminución del número de sesiones necesarias, lo que permite recomendarlo como una opción terapéutica adecuada.

  13. Primary biliary cirrhosis and scleroderma complicated by Barrett's ...

    African Journals Online (AJOL)

    1991-04-06

    Apr 6, 1991 ... primary biliary cirrhosis, CREST syndrome, and chronic pancreatitis. Thorax. 1983; 38: 316-317. 9. Okano Y, Nisbikai M, Sato A. Scleroderma, primary biliary cirrhosis, and. Sjogren's syndrome after cosmetic breast augmentation with silicone injec- tion: a case reporfof possible human adjuvant disease.

  14. A Patient with Localized Scleroderma Successfully Treated with Etretinate

    Science.gov (United States)

    Shima, Tomoko; Yamamoto, Yuki; Ikeda, Takaharu; Furukawa, Fukumi

    2014-01-01

    There are several treatment methods for localized scleroderma, but treatment is difficult when the lesion is widely distributed. We encountered a case who was treated successfully with etretinate, a vitamin A derivative. The usefulness of this agent is discussed. PMID:25408646

  15. A Patient with Localized Scleroderma Successfully Treated with Etretinate

    Directory of Open Access Journals (Sweden)

    Tomoko Shima

    2014-09-01

    Full Text Available There are several treatment methods for localized scleroderma, but treatment is difficult when the lesion is widely distributed. We encountered a case who was treated successfully with etretinate, a vitamin A derivative. The usefulness of this agent is discussed.

  16. Localized severe scleroderma: a retrospective study of 26 pediatric patients.

    Science.gov (United States)

    Beltramelli, Matilde; Vercellesi, Paolo; Frasin, Adina; Gelmetti, Carlo; Corona, Fabrizia

    2010-01-01

    Juvenile localized scleroderma includes different conditions characterized by skin hardening with increased collagen deposition. Although juvenile localized scleroderma is considered a relatively benign disease, lesions may extend through the dermis, subcutaneous tissue, muscles, and the underlying bone, leading to significant functional and cosmetic deformities. Furthermore, extracutaneous manifestations are described. We retrospectively analyzed a cohort of 26 patients with severe Juvenile localized scleroderma with particular attention to clinical features, therapy, and long-term outcome. A subgroup of three patients has been further evaluated with infrared thermography. Our findings were consistent with the current literature for demographic, laboratory, and clinical characteristics at disease onset, but, with our patients, the prevalence of extracutaneous manifestations was higher, thus confirming the potential for severe juvenile localized scleroderma to affect organs other than the skin, without increased risk of development toward systemic sclerosis. Correlation between various treatments and clinical endpoint showed that systemic therapy lead to a better outcome: in particular, methotrexate appeared the most effective drug, capable in halting the progression of the disease and sometimes inducing its regression. © 2010 Wiley Periodicals, Inc.

  17. Clinicopathological study of 81 cases of localized and systemic scleroderma.

    Science.gov (United States)

    Succaria, F; Kurban, M; Kibbi, A-G; Abbas, O

    2013-02-01

    Scleroderma is a connective tissue disease that includes localized and systemic forms. Our recent encounter with a morphea case exhibiting prominent perineural inflammation microscopically prompted us to assess the features of all patients diagnosed with morphea/scleroderma at our institution. To describe the clinicopathological features of all patients diagnosed with morphea/scleroderma at American University of Beirut Medical Center (AUB-MC) between 1999 and 2010, and compare our findings with those published in the literature. A total of 81 cases (63 women and 18 men) were identified, of which 73 were localized (morphea) and eight were systemic scleroderma. Clinically, plaque type morphea was the most common variant both in adults and children, and seven (9%) cases of morphea were associated with lichen sclerosis et atrophicus (LSA). Histopathologically, perineural inflammation was observed in 49% of cases, and may serve, in addition to other features including lichen sclerosis-like changes (observed in exclusively nine cases of morphea), more diffuse dermal and less subcutaneous sclerosis, and intense inflammation, as clues favouring diagnosis of morphea over systemic sclerosis. The features of morphea/scleroderma patients in this study are generally comparable to those published in the literature, with few differences. Clinically, plaque type morphea was the most common variant both in adults and children and LSA was a frequent association. Histopathologically, perineural inflammation was commonly observed and may serve in addition to lichen sclerosis-like changes and intense inflammation as clues favouring diagnosis of morphea over systemic sclerosis. © 2012 The Authors. Journal of the European Academy of Dermatology and Venereology © 2012 European Academy of Dermatology and Venereology.

  18. Supernatants from culture of type I collagen-stimulated PBMC from patients with cutaneous systemic sclerosis versus localized scleroderma demonstrate suppression of MMP-1 by fibroblasts.

    Science.gov (United States)

    Brown, Monica; Postlethwaite, Arnold E; Myers, Linda K; Hasty, Karen A

    2012-06-01

    Systemic sclerosis (SSc) is a chronic fibrosing disease characterized by vasculopathy, autoimmunity, and an accumulation of collagen in tissues. Numerous studies have shown that compared to healthy or diseased controls, the peripheral blood mononuclear cells (PBMC) from patients with SSc produce a variety of cytokines or proliferate when cultured with solubilized type I collagen (CI) or constituent α1(II) and α2(I) polypeptide chains. The purpose of this study was to determine whether PBMC isolated from patients with SSc and cultured in vitro with soluble CI elaborated soluble mediators that inhibit the production of collagenase (i.e., matrix metalloproteinase, MMP-1) by fibroblasts. Supernatants of CI-stimulated PBMC from juvenile and adult diffuse cutaneous (dc)SSc patients significantly reduced MMP-1 production by SSc dermal fibroblasts, while supernatants of CI-stimulated PBMC from patients with localized scleroderma (LS) did not. CI-stimulated PBMC culture supernatants from patients with dcSSc in contrast to patients with LS exhibited increased levels of platelet-derived growth factor (PDGF)-AA, PDGF-BB, TNF-α, IL-13, and EGF. Prolonged culture of SSc dermal fibroblasts with recombinant PDGF-BB or IL-13 inhibited the induction of MMP-1 in response to subsequent TNF-α stimulation. These data suggest that therapies aimed at reducing these cytokines may decrease collagen accumulation in SSc, preventing the development of chronic fibrosis.

  19. Malignancy in scleroderma patients from south west England: a population-based cohort study.

    LENUS (Irish Health Repository)

    Siau, Keith

    2010-01-08

    The pathophysiological relationship between scleroderma and malignancy remains poorly understood. Although some previous studies have demonstrated an increased malignancy risk in patients with scleroderma, others have been inconclusive. We aimed to determine if patients with scleroderma had an increased risk of malignancy compared to an age- and sex-matched local South West England population, and if there were any important differences between scleroderma patients with and without malignancy. Methods of this study are as follows. Notes were obtained on all local scleroderma patients (n = 68) locally, and those diagnosed with malignancy verified by contacting each patient\\'s general practitioner. Expected malignancy figures were obtained from age- and sex-stratified regional prevalence data provided by the South West Cancer Intelligence Service registry. Among the patients, 22.1% with scleroderma were identified with concurrent malignancy. Affected sites were of the breast (n = 5), haematological system (n = 5), skin (n = 4), and unknown primary (n = 1). Overall, malignancy risk was found to be increased in scleroderma (RR = 3.15, 95% CI 1.77-5.20, p = 0.01). In particular, this risk was the highest for haematological malignancies (RR = 18.5, 95% CI 6-43, p = 0.03), especially for non-Hodgkin\\'s lymphoma (RR = 25.8, 95% CI 5-75, p = 0.10). The majority of patients (86.7%) developed malignancy after the onset of scleroderma (mean = 6.9 years). Age of >70 and patients with limited scleroderma were significant risk factors for a patient with scleroderma to have a concurrent malignancy; however, no increased risk was found in patients with any particular pattern of organ involvement, cytotoxic usage or serology. To conclude, in this small patient cohort, we have found that scleroderma is associated with an increased risk of malignancy. This risk is statistically significant in patients with limited scleroderma. Patients who are elderly and those with limited disease

  20. A Case Report of Successful Treatment of Recalcitrant Childhood Localized Scleroderma with Infliximab and Leflunomide.

    Science.gov (United States)

    Ferguson, Ian D; Weiser, Peter; Torok, Kathryn S

    2015-01-01

    Herein we report successful treatment of an adolescent Caucasian female with severe progressive localized scleroderma (mixed subtype, including generalized morphea and linear scleroderma of the trunk/limb) using infliximab and leflunomide. The patient demonstrated improvement after the first 9 months of therapy based on her clinical examination, objective measures, and patient and parent global assessments. Infliximab is a potential treatment option for pediatric localized scleroderma patients who have progression of disease or who are unable to tolerate the side effect profile of more standard systemic therapy. Larger longitudinal studies or case series are needed to confirm and further investigate infliximab's role in localized scleroderma.

  1. Clinical and Autoimmune Profile of Scleroderma Patients from Western India

    Directory of Open Access Journals (Sweden)

    Vandana Pradhan

    2014-01-01

    Full Text Available Background. Systemic sclerosis (SSc, scleroderma is a disorder characterized by fibrosis of skin and visceral organs. Pathogenesis of scleroderma is complex and is incompletely understood as yet. Autoantibodies in SSc represent a serologic hallmark which have clinical relevance, with diagnostic and prognostic potential. Objectives. To study distribution of clinical manifestations and to identify frequency of autoantibodies among subtypes of scleroderma patients from Western India. Methodology. One hundred and ten scleroderma patients were clinically classified according to the American College of Rheumatology/European League Against Rheumatism (ACR/EULAR criteria. All these patients were in active stage of disease. Clinical manifestations were recorded at the time of presentation. Autoantibodies were tested in them by indirect immunofluorescence test and ELISA. Immunoglobulin levels were estimated by nephelometer. These parameters were further correlated with clinical presentation of the disease. Results. Scleroderma patients had M : F ratio of 1 : 10 where mean age at evaluation was 34.7±10.7 years and a mean disease duration was 43.7±35 months. Clinical subtypes showed that 45 patients (40.9% had diffused cutaneous (dcSSc lesions, 32 patients (29.1% had limited cutaneous (lcSSc lesions, and 33 patients (30% had other autoimmune overlaps. The overall frequency of ANA in SSc patients studied was 85.5%. The frequency of anti-Scl70, anti-centromere, anti-endothelial cell antibodies (AECA, and anti-keratinocyte antibodies (AKA was 62.7%, 22.7%, 30%, and 40.9%, respectively. Anti-Scl70 antibodies were significantly high (75.6% versus 46.9% among dcSSc patients (P<0.0115 whereas anti-centromere antibodies were significantly high (9% versus 38% among lcSSc patients when these two subtypes were compared (P<0.0044. Conclusion. This study supports that there are geoepidemiological variations among scleroderma patients for their clinical

  2. [Prevalence of extrinsic allergic alveolitis in cattle breeders from the province of Reggio Emilia].

    Science.gov (United States)

    Ferri, F; Ruggieri, Maria Paola; Guidetti, G; Azzarone, G; Giammartini, Pasquina; Capanni, S; Mantovani, P; Bertani, Marisa

    2003-01-01

    Several new cases of Extrinsic Allergic Alveolitis or Farmer's Lung (FL) in farm workers were reported to Occupational Health Services in the province of Reggio Emilia (Italy). This prompted the Public Health Department to study the prevalence of the disease among milk-cow breeders involved in Parmigiano-Reggiano cheese production: who are the biggest hay users. A suitable questionnaire was sent to 1875 farmers in three of the six districts of the province. Half of them (935: 841 males, 94 females) answered; further contacts and medical history research revealed 33 case of "likely FL". Twenty-three (2 females) (10 "missing"), underwent pulmonary function tests, chest X-rays, precipitins tests against Saccharopolyspora Rectivirgula and other fungal antigens and (22 farmers) bronchoalveolar lavage (BAL). According to the "Società Italiana di Medicina del Lavoro e di Igiene Industriale" diagnostic standards, we found 20 subjects suffering from FL among farmers collecting hay in large cylindrical (round) bales, dried on field (2.6%) and among others still using small (traditional), prismatic bales (0.5%). The prevalence on the whole exposed population (6000-9000 people) was estimated between 1.5% and 3.0% (90-270 people); no difference was found in FL prevalence between flat and hilly or mountain areas; the method of collecting hay in big "round" bales, dried on field, seems to produce higher frequencies of FL cases if compared with the traditional ones (more frequent in mountain areas). The new hay packing methods, using forced air driers, are suggested as a possible solution.

  3. Feast or flee: bioelectrical regulation of feeding and predator evasion behaviors in the planktonic alveolate Favella sp. (Spirotrichia).

    Science.gov (United States)

    Echevarria, Michael L; Wolfe, Gordon V; Taylor, Alison R

    2016-02-01

    Alveolate (ciliates and dinoflagellates) grazers are integral components of the marine food web and must therefore be able to sense a range of mechanical and chemical signals produced by prey and predators, integrating them via signal transduction mechanisms to respond with effective prey capture and predator evasion behaviors. However, the sensory biology of alveolate grazers is poorly understood. Using novel techniques that combine electrophysiological measurements and high-speed videomicroscopy, we investigated the sensory biology of Favella sp., a model alveolate grazer, in the context of its trophic ecology. Favella sp. produced frequent rhythmic depolarizations (∼500 ms long) that caused backward swimming and are responsible for endogenous swimming patterns relevant to foraging. Contact of both prey cells and non-prey polystyrene microspheres at the cilia produced immediate mechanostimulated depolarizations (∼500 ms long) that caused backward swimming, and likely underlie aggregative swimming patterns of Favella sp. in response to patches of prey. Contact of particles at the peristomal cavity that were not suitable for ingestion resulted in depolarizations after a lag of ∼600 ms, allowing time for particles to be processed before rejection. Ingestion of preferred prey particles was accompanied by transient hyperpolarizations (∼1 s) that likely regulate this step of the feeding process. Predation attempts by the copepod Acartia tonsa elicited fast (∼20 ms) animal-like action potentials accompanied by rapid contraction of the cell to avoid predation. We have shown that the sensory mechanisms of Favella sp. are finely tuned to the type, location, and intensity of stimuli from prey and predators. © 2016. Published by The Company of Biologists Ltd.

  4. Predictive value of European Scleroderma Group Activity Index in an early scleroderma cohort.

    Science.gov (United States)

    Nevskaya, Tatiana; Baron, Murray; Pope, Janet E

    2017-07-01

    To estimate the effect of disease activity, as measured by the European Scleroderma Research Group Activity Index (EScSG-AI), on the risk of subsequent organ damage in a large systemic sclerosis (SSc) cohort. Of 421 SSc patients from the Canadian Scleroderma Research Group database with disease duration of ⩽ 3 years, 197 who had no evidence of end-stage organ damage initially and available 3 year follow-up were included. Disease activity was assessed by the EScSG-AI with two variability measures: the adjusted mean EScSG-AI (the area under the curve of the EScSG-AI over the observation period) and persistently active disease/flare. Outcomes were based on the Medsger severity scale and included accrual of a new severity score (Δ ⩾ 1) overall and within organ systems or reaching a significant level of deterioration in health status. After adjustment for covariates, the adjusted mean EScSG-AI was the most consistent predictor of risk across the study outcomes over 3 years in dcSSc: disease progression defined as Δ ⩾ 1 in any major internal organ, significant decline in forced vital capacity and diffusing capacity of carbon monoxide, severity of visceral disease and HAQ Disability Index worsening. In multivariate analysis, progression of lung disease was predicted solely by adjusted mean EScSG-AI, while the severity of lung disease was predicted the adjusted mean EScSG-AI, older age, modified Rodnan skin score (mRSS) and initial severity. The EScSG-AI was associated with patient- and physician-assessed measures of health status and overpowered the mRSS in predicting disease outcomes. Disease activity burden quantified with the adjusted mean EScSG-AI predicted the risk of deterioration in health status and severe organ involvement in dcSSc. The EScSG-AI is more responsive when done repeatedly and averaged. © The Author 2017. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email

  5. Prática fisioterapêutica no tratamento da fibrose cística

    Directory of Open Access Journals (Sweden)

    Carolina Lazzarim de Conto

    2014-08-01

    Full Text Available A fibrose cística (FC, denominada também de mucoviscidose, é uma doença genética do tipo autossômica recessiva que acomete principalmente crianças e indivíduos de raça branca. O objetivo deste estudo foi propiciar uma visão sobre a FC, assim como as possíveis formas de tratamento fisioterapêutico. A pesquisa da literatura foi realizada nas bases de dados SciELO e PubMed, no período de abril de 2002 a março de 2013, através da seleção de artigos científicos referentes à FC, utilizando como palavras-chave: “fibrose cística”, “fisioterapia em fibrose cística” e “fisioterapia respiratória”. Por meio desta revisão, pôde-se observar que, apesar da complexidade da doença, a prática fisioterapêutica, com o uso das técnicas: tapotagem, vibração, drenagem postural (DP, huffing, oscilação oral de alta frequência (OOAF, drenagem autógena (DA e o ciclo ativo da respiração (CAR, apresenta eficácia tanto no tratamento como na manutenção da qualidade de vida dos pacientes com FC.

  6. Neurologic Involvement in Scleroderma en Coup de Sabre

    Science.gov (United States)

    Amaral, Tiago Nardi; Marques Neto, João Francisco; Lapa, Aline Tamires; Peres, Fernando Augusto; Guirau, Caio Rodrigues; Appenzeller, Simone

    2012-01-01

    Localized scleroderma is a rare disease, characterized by sclerotic lesions. A variety of presentations have been described, with different clinical characteristics and specific prognosis. In scleroderma en coup de sabre (LScs) the atrophic lesion in frontoparietal area is the disease hallmark. Skin and subcutaneous are the mainly affected tissues, but case reports of muscle, cartilage, and bone involvement are frequent. These cases pose a difficult differential diagnosis with Parry-Romberg syndrome. Once considered an exclusive cutaneous disorder, the neurologic involvement present in LScs has been described in several case reports. Seizures are most frequently observed, but focal neurologic deficits, movement disorders, trigeminal neuralgia, and mimics of hemiplegic migraines have been reported. Computed tomography and magnetic resonance imaging have aided the characterization of central nervous system lesions, and cerebral angiograms have pointed to vasculitis as a part of disease pathogenesis. In this paper we describe the clinical and radiologic aspects of neurologic involvement in LScs. PMID:22319646

  7. Update on the classification and treatment of localized scleroderma.

    Science.gov (United States)

    Bielsa Marsol, I

    2013-10-01

    Morphea or localized scleroderma is a distinctive inflammatory disease that leads to sclerosis of the skin and subcutaneous tissues. It comprises a number of subtypes differentiated according to their clinical presentation and the structure of the skin and underlying tissues involved in the fibrotic process. However, classification is difficult because the boundaries between the different types of morphea are blurred and different entities frequently overlap. The main subtypes are plaque morphea, linear scleroderma, generalized morphea, and pansclerotic morphea. With certain exceptions, the disorder does not have serious systemic repercussions, but it can cause considerable morbidity. In the case of lesions affecting the head, neurological and ocular complications may occur. There is no really effective and universal treatment so it is important to make a correct assessment of the extent and severity of the disease before deciding on a treatment approach. Copyright © 2011 Elsevier España, S.L. and AEDV. All rights reserved.

  8. Barrett esophagus in scleroderma: Increased incidence and radiographic findings

    International Nuclear Information System (INIS)

    Recht, M.P.; Levine, M.S.; Katzka, D.A.; Reynolds, J.C.; Saul, S.H.; Ouyang, A.; Cohen, S.

    1986-01-01

    Thirteen patients with scleroderma underwent esophagography and endoscopy because of symptoms of reflux esophagitis or dysphagia, or both. Five had biopsy-proved Barrett esophagus, and two of those five had esophageal adencarcinomas. In a blinded review of the barium studies, Barrett esophagus was thought to be probable in one case, possible in seven, and unlikely in five. Five of eight patients in the first two groups had Barrett esophagus on endoscopy, but none in the third group had this disease. The author's initial experience, therefore, suggests that a definitive radiologic diagnosis of Barrett esophagus is not possible in most patients with scleroderma. However, endoscopy may be avoided when Barrett esophagus is considered unlikely on esophagography

  9. A Practical Approach to Juvenile Dermatomyositis and Juvenile Scleroderma.

    Science.gov (United States)

    McCann, Liza J; Pain, Clare E

    2016-02-01

    Juvenile dermatomyositis and juvenile scleroderma are rare multisystem autoimmune disorders. Although they share some pathognomonic hallmarks with adult onset myositis or scleroderma, there are significant differences in presentation, characteristics and associated features when the diseases present in childhood. In view of this, and the rarity of the conditions, it is important for care to be led by teams with expertise in pediatric rheumatology conditions. Prognosis has improved significantly in the West; likely due to early diagnosis and aggressive treatment with immunosuppressive medications. However, this trend is not replicated in the developing world. Early recognition of these diseases is crucial to achieve rapid and sustained remission and prevent disease or medication associated complications. This article aims to provide a practical overview for recognition, diagnosis and treatment of these conditions.

  10. Isometric and isokinetic muscle strength in patients with fibrositis syndrome. New characteristics for a difficult definable category of patients

    DEFF Research Database (Denmark)

    Jacobsen, Søren; Danneskiold-Samsøe, B

    1987-01-01

    A common complaint among patients with fibrositis syndrome is exhaustion and fatique. It was therefore felt desirable to evaluate the muscle strength of these patients compared with normal subjects. Maximum isometric and isokinetic strength of knee extension was measured in 15 patients and 15...... healthy matched subjects, using an isokinetic dynamometer (Cybex II). Maximum isometric strength at various knee extension angles (90 degrees, 60 degrees and 30 degrees degrees) was significantly (p less than 0.001) lower in the fibrositis group than in controls, a reduction of approximately 58......-66%. Maximum isokinetic strength at various knee extension velocities (30-240 degrees per second) was also significantly (p less than 0.01) lower in the fibrositis group than in controls, the reduction being approximately 41-51%. In conclusion, isometric and isokinetic muscle strength is found to be lower...

  11. O perfil dos cuidadores de pacientes pediátricos com fibrose cística

    OpenAIRE

    Alves, Stella Pegoraro; Bueno, Denise

    2018-01-01

    Resumo O objetivo desse estudo foi identificar o perfil do cuidador principal de pacientes pediátricos com Fibrose Cística (FC). Estudo transversal, descritivo e prospectivo, no qual foi realizado, durante consulta farmacêutica, entrevista com cuidadores de pacientes fibrocísticos acompanhados em um centro de referência de um Hospital Universitário do Sul do Brasil. Foram obtidas informações gerais sobre os cuidadores, sobre o entendimento da doença, os medicamentos em uso do paciente e a din...

  12. Fibrosing mediastinitis and thrombosis of superior vena cava associated with Behcet's disease

    International Nuclear Information System (INIS)

    Harman, Mustafa; Sayarlioglu, Mehmet; Arslan, Halil; Ayakta, Hayati; Harman, Ece

    2003-01-01

    We present CT, MRI and venography findings in 13-year boy with mediastinal fibrosis and superior vena cava (SVC) thrombosis associated with Behcet's disease. Fibrosing mediastinitis is an excessive fibrotic reaction that occurs in the mediastinum and may lead to compression of mediastinal structures (especially vascular). This condition is usually idiopathic, though many (and perhaps most) cases in the USA are thought to be caused by an abnormal immunologic response to Histoplasma capsulatum infection. SVC syndrome secondary to extrinsic compression by mediastinal fibrosis combined with Behcet's disease has rarely been described. Radiological investigations of this syndrome are necessary to avoid a useless anticoagulant therapy

  13. Lethal fibrosing mediastinitis in a child possibly due to Mycobacterium tuberculosis.

    Science.gov (United States)

    Goussard, Pierre; Gie, Robert P; Janson, Jacque

    2018-04-10

    Fibrosing mediastinitis (FM) is a rare benign disease resulting from an excessive fibro-inflammatory reaction in the mediastinum that can compress and occlude mediastinal structures. There is a granulomatous and a diffuse non-granulomatous form of FM. We present a case of granulomatous FM following possible tuberculosis in a young child who presented with severe compression of the airways, pulmonary artery and the superior vena cava (SVC), unresponsive to treatment, resulting in death. Bronchoscopic findings included concentric narrowing and mucosal hyperaemia of the tracheobronchial airways. This case raises awareness of this rare complication and the limited treatment options available. © 2018 Wiley Periodicals, Inc.

  14. A case of cutaneous scleroderma with primary sclerosing cholangitis

    Directory of Open Access Journals (Sweden)

    H P Nandeesh

    2014-01-01

    Full Text Available Sclerosing cholangitis comprises of a spectrum of cholestatic conditions that are characterized by patchy fibrosis, inflammation and destruction of intra hepatic and extrahepatic ducts. We report a case of a 42 year old woman who presented with darkening of skin with yellowish discolouration of the eyes. Clinical examination revealed icterus, taut skin with hepatosplenomegaly. Liver function tests showed a cholestatic picture. Skin biopsy showed features of cutaneous scleroderma. MRCP and Liver biopsy was suggestive of sclerosing cholangitis.

  15. Use of the international systemic scleroderma activity index

    Directory of Open Access Journals (Sweden)

    Maya Nikolayevna Starovoitova

    2013-01-01

    Full Text Available Up to now, it is difficult to determine systemic scleroderma (SSD activity because of the lack of validated tools to estimate changes in the pathological process. Attempts have been made to develop unified activity assessing methods for many years. The indices proposed by the European SSD Group are most popular today. This paper gives the results of using this index in a cohort of Russian patients.

  16. The skeletal changes of progressive systemic scleroderma (PSS), of exclusive Raynaud phenomenon and of circumscript scleroderma in a gamma camera scintigraph

    International Nuclear Information System (INIS)

    Ulbrich, T.

    1987-01-01

    The bases of this study are the skeletal scintigraphs of altogether 34 patients with the three forms of scleroderma mentioned in the title. The PSS shows a polytropic, symmetric distribution pattern, the exclusive Raynaud's phenomenon shows a basic skeleton which is unchanged in contrast to circumscript scleroderma, with which also the larger joints are relatively more frequently attacked than the little ones. As a result of high sensitivity skeletal scintiscanning makes possible an early recognition of osseous changes and is there with superior to X-radiology and should then see an increased use for the clarification of the diagnosis of arthropathy in scleroderma. (TRV) [de

  17. The EULAR Scleroderma Trials and Research Group (EUSTAR): an international framework for accelerating scleroderma research.

    Science.gov (United States)

    Tyndall, Alan; Ladner, Ulf M; Matucci-Cerinic, Marco

    2008-11-01

    Systemic sclerosis has a complex pathogenesis and a multifaceted clinical spectrum without a specific treatment. Under the auspices of the European League Against Rheumatism, the European League Against Rheumatism Scleroderma Trials And Research group (EUSTAR) has been founded in Europe to foster the study of systemic sclerosis with the aim of achieving equality of assessment and care of systemic sclerosis patients throughout the world according to evidence-based principles. EUSTAR created the minimal essential data set, a simple two-page form with basic demographics and mostly yes/no answers to clinical and laboratory parameters, to track patients throughout Europe. Currently, over 7000 patients are registered from 150 centres in four continents, and several articles have been published with the data generated by the minimal essential data set. A commitment of EUSTAR is also to teaching and educating, and for this reason there are two teaching courses and a third is planned for early in 2009. These courses have built international networks among young investigators improving the quality of multicentre clinical trials. EUSTAR has organized several rounds of 'teach the teachers' to further standardize the skin scoring. EUSTAR activities have extended beyond European borders, and EUSTAR now includes experts from several nations. The growth of data and biomaterial might ensure many further fruitful multicentre studies, but the financial sustainability of EUSTAR remains an issue that may jeopardize the existence of this group as well as that of other organizations in the world.

  18. Scleroderma in the Caribbean: characteristics in a Dominican case series.

    Science.gov (United States)

    Gottschalk, Paola; Vásquez, Ricardo; López, Persio David; Then, Jossiell; Tineo, Carmen; Loyo, Esthela

    2014-01-01

    Scleroderma is a rare disease with limited data in Latin America. Preliminary genetic studies suggest a strong African ascendance in the Dominican Republic, which could modulate the expression of the disease. The objective of this study is to describe the clinical and demographic characteristics of scleroderma in a series of 26 Dominican patients. Patients who fulfilled the EULAR/ACR criteria for scleroderma were selected from the Rheumatology Department of a tertiary health center; systemic sclerosis subtypes were defined according to the EULAR classification. Clinical and demographic information was obtained retrospectively from clinical records. Mean age at time of onset was 32.6±15 years; 68% of patients had 40 years of age or less. 73% of patients was feminine, with a female:male ratio of 2.7:1. The most affected systems were pulmonary and gastrointestinal; renal affection was scarce. Anti-Scl-70 antibodies were positive in 64% of patients, sometimes in coexistence with anti-centromere antibodies. The prevalence of systemic sclerosis is lower in the Dominican population than the reported elsewhere. The age of onset of the disease seems to be lower in the Dominican population than that reported in literature. A different pattern of autoantibodies is observed in this population. Copyright © 2013 Elsevier España, S.L.U. All rights reserved.

  19. Discovery or Extinction of New Scleroderma Species in Amazonia?

    Directory of Open Access Journals (Sweden)

    Iuri G Baseia

    Full Text Available The Amazon Forest is a hotspot of biodiversity harboring an unknown number of undescribed taxa. Inventory studies are urgent, mainly in the areas most endangered by human activities such as extensive dam construction, where species could be in risk of extinction before being described and named. In 2015, intensive studies performed in a few locations in the Brazilian Amazon rainforest revealed three new species of the genus Scleroderma: S. anomalosporum, S. camassuense and S. duckei. The two first species were located in one of the many areas flooded by construction of hydroelectric dams throughout the Amazon; and the third in the Reserva Florestal Adolpho Ducke, a protected reverse by the INPA. The species were identified through morphology and molecular analyses of barcoding sequences (Internal Transcribed Spacer nrDNA. Scleroderma anomalosporum is characterized mainly by the smooth spores under LM in mature basidiomata (under SEM with small, unevenly distributed granules, a characteristic not observed in other species of the genus, the large size of the basidiomata, up to 120 mm diameter, and the stelliform dehiscence; S. camassuense mainly by the irregular to stellate dehiscence, the subreticulated spores and the bright sulfur-yellow colour, and Scleroderma duckei mainly by the verrucose exoperidium, stelliform dehiscence, and verrucose spores. Description, illustration and affinities with other species of the genus are provided.

  20. Targeting miR-155 to Treat Experimental Scleroderma.

    Science.gov (United States)

    Yan, Qingran; Chen, Jie; Li, Wei; Bao, Chunde; Fu, Qiong

    2016-02-01

    Scleroderma is a refractory autoimmune skin fibrotic disorder. Alterations of microRNAs in lesional skin could be a new approach to treating the disease. Here, we found that expression of miR-155 was up regulated in lesional skin tissue from patients with either systemic or localized scleroderma, and correlated with fibrosis area. Then we demonstrated the potential of miR-155 as a therapeutic target in pre-clinical scleroderma models. MiR-155(-/-) mice were resistant to bleomycin induced skin fibrosis. Moreover, topical antagomiR-155 could effectively treat mice primed with subcutaneous bleomycin. In primary skin fibroblast, miR-155 silencing could inhibit collagen synthesis function, as well as signaling intensity of two pro-fibrotic pathways, Wnt/β-catenin and Akt, simultaneously. We further showed that miR-155 could regulate the two pathways via directly targeting casein kinase 1α (CK1α) and Src homology 2-containing inositol phosphatase-1 (SHIP-1), as previous reports. Mice with miR-155 knockout or topical antagomir-155 treatment showed inhibited Wnt/β-catenin and Akt signaling in skin upon bleomycin challenge. Together, our data suggest the potential of miR-155 silencing as a promising treatment for dermal fibrosis, especially in topical applications.

  1. Pediatric Scleroderma –Systemic and Localized Forms

    Science.gov (United States)

    Torok, Kathryn S.

    2012-01-01

    Synopsis statement Pediatric scleroderma includes two major groups of clinical entities, systemic sclerosis (SSc) and localized scleroderma (LS). Although both share a common pathophysiology, with an initial inflammatory phase associated with endothelial activation, and a later fibrotic phase evidenced by collagenization of tissue and appreciable skin thickness, their clinical manifestations differ. LS is typically confined to the skin and underlying subcutis, and though not fatal like SSc, up to a quarter of the patients may have extracutaneous disease manifestations, such as arthritis and uveitis. While any organ may be affected in SSc, vascular (Raynaud’s phenomenon), cutaneous (skin thickening), GI, pulmonary and musculoskeletal involvement are most commonly seen in children. Auto-antibody profiles in childhood onset SSc can assist in predicting internal organ involvement. Treatment for both forms of scleroderma targets the active inflammatory stage and halts disease progression; however, progress still needs to be made towards the development of a more effective anti-fibrotic therapy to help reverse disease damage. PMID:22560576

  2. Cytokine profiles in localized scleroderma and relationship to clinical features.

    Science.gov (United States)

    Kurzinski, Katherine; Torok, Kathryn S

    2011-08-01

    Localized scleroderma (LS) is a disfiguring autoimmune disease of the skin and underlying tissue that mainly affects the pediatric population. Inflammation of the tissue leads to fibrosis and atrophy, causing physical and psychological disability that can continue throughout childhood into adulthood. Available therapies for LS have had variable effects and are associated with morbidity themselves. A better understanding of the pathophysiology of LS, especially during the active inflammatory phase, would lead to more directed and efficacious therapies. As in systemic sclerosis (SSc), the other form of scleroderma, T-helper (Th) cells and their associated cytokines have been suggested to contribute significantly to the pathophysiology of LS supported by the presence of cytokines from these lineages in the sera and tissue of LS patients. It is postulated that the imbalance between Th1/Th2/Th17 cell subsets drives inflammation in the early stages of disease (Th1 and Th17 predominant) and fibrosis in the later stages of scleroderma (Th2 predominant). We review the available experimental data regarding cytokines in LS and compare them to available clinical disease severity and activity features. This provides the platform to launch further investigations into the role of select cytokines in the pathogenesis of LS and to provide directed therapeutic options in the future. Published by Elsevier Ltd.

  3. End-Stage Kidney Disease From Scleroderma in the United States, 1996 to 2012

    Directory of Open Access Journals (Sweden)

    Donal J. Sexton

    2018-01-01

    Conclusion: The incidence of ESKD from scleroderma appears to have declined in the United States since 1996. ESKD from scleroderma is associated with an enhanced likelihood of recovery of kidney function and death, a reduced likelihood of transplantation, and similar outcomes after transplantation.

  4. Evaluation of heart rhythm variability and arrhythmia in children with systemic and localized scleroderma.

    Science.gov (United States)

    Wozniak, Jacek; Dabrowski, Rafal; Luczak, Dariusz; Kwiatkowska, Malgorzata; Musiej-Nowakowska, Elzbieta; Kowalik, Ilona; Szwed, Hanna

    2009-01-01

    To evaluate possible disturbances in autonomic regulation and cardiac arrhythmias in children with localized and systemic scleroderma. There were 40 children included in the study: 20 with systemic and 20 with localized scleroderma. The control group comprised 20 healthy children. In 24-hour Holter recording, the average rate of sinus rhythm was significantly higher in the groups with systemic and localized scleroderma than in the control group, but there was no significant difference between them. The variability of heart rhythm in both groups was significantly decreased. In the group with systemic scleroderma, single supraventricular ectopic beats were observed in 20% and runs were seen in 40% of patients. In the group with localized scleroderma, supraventricular single ectopic beats occurred in 35% of patients and runs in 45% of those studied. Ventricular arrhythmia occurred in 2 children with systemic scleroderma, but in 1 child, it was complex. The most frequent cardiac arrhythmias in both types of scleroderma in children were of supraventricular origin, whereas ventricular arrhythmias did not occur very often. There were no significant differences in autonomic disturbances manifesting as a higher heart rate and decreased heart rate variability between localized and systemic scleroderma.

  5. Exploring sources of emotional distress among people living with scleroderma: A focus group study

    NARCIS (Netherlands)

    Gumuchian, S.T.; Peláez, S.; Delisle, V.C.; Carrier, M.E.; Jewett, L.R.; El-Baalbaki, G.; Fortune, C.; Hudson, M.; Impens, A.; Körner, A.; Persmann, J.; Kwakkenbos, C.M.C.; Bartlett, S.J.; Thombs, B.D.

    2016-01-01

    Background: Systemic sclerosis, or scleroderma, is a chronic and rare connective tissue disease with negative physical and psychological implications. Sources of emotional distress and the impact they have on the lives of people with scleroderma are not well understood. Objectives: To gain an

  6. Gene duplication, loss and selection in the evolution of saxitoxin biosynthesis in alveolates.

    Science.gov (United States)

    Murray, Shauna A; Diwan, Rutuja; Orr, Russell J S; Kohli, Gurjeet S; John, Uwe

    2015-11-01

    A group of marine dinoflagellates (Alveolata, Eukaryota), consisting of ∼10 species of the genus Alexandrium, Gymnodinium catenatum and Pyrodinium bahamense, produce the toxin saxitoxin and its analogues (STX), which can accumulate in shellfish, leading to ecosystem and human health impacts. The genes, sxt, putatively involved in STX biosynthesis, have recently been identified, however, the evolution of these genes within dinoflagellates is not clear. There are two reasons for this: uncertainty over the phylogeny of dinoflagellates; and that the sxt genes of many species of Alexandrium and other dinoflagellate genera are not known. Here, we determined the phylogeny of STX-producing and other dinoflagellates based on a concatenated eight-gene alignment. We determined the presence, diversity and phylogeny of sxtA, domains A1 and A4 and sxtG in 52 strains of Alexandrium, and a further 43 species of dinoflagellates and thirteen other alveolates. We confirmed the presence and high sequence conservation of sxtA, domain A4, in 40 strains (35 Alexandrium, 1 Pyrodinium, 4 Gymnodinium) of 8 species of STX-producing dinoflagellates, and absence from non-producing species. We found three paralogs of sxtA, domain A1, and a widespread distribution of sxtA1 in non-STX producing dinoflagellates, indicating duplication events in the evolution of this gene. One paralog, clade 2, of sxtA1 may be particularly related to STX biosynthesis. Similarly, sxtG appears to be generally restricted to STX-producing species, while three amidinotransferase gene paralogs were found in dinoflagellates. We investigated the role of positive (diversifying) selection following duplication in sxtA1 and sxtG, and found negative selection in clades of sxtG and sxtA1, clade 2, suggesting they were functionally constrained. Significant episodic diversifying selection was found in some strains in clade 3 of sxtA1, a clade that may not be involved in STX biosynthesis, indicating pressure for diversification

  7. Prospective study to evaluate the clinical and radiological outcome of patients with scleroderma of the face.

    Science.gov (United States)

    Careta, Mariana Figueiroa; Leite, Claudia da Costa; Cresta, Fernando; Albino, Jose; Tsunami, Mirian; Romiti, Ricardo

    2013-09-01

    Scleroderma featuring rare connective tissue disease that manifests as skin sclerosis and variable systemic involvement. Two categories of scleroderma are known: systemic sclerosis, characterized by cutaneous sclerosis and visceral involvement and localized scleroderma or morphea which classically presents benign evolution and self-limited, confined to the skin and/or underlying tissue. Recent studies show that the localized form may possibly course with involvement of internal organs and variable morbidity. This study aimed to determine the demographic characteristics, the prevalence of systemic manifestations and laboratory findings, as well as the association with autoimmune diseases, and the evolution of neurological findings, both clinical as brain MRI in patients with scleroderma of the face and its relation with the activity skin. Patients with localized scleroderma with facial involvement were evaluated and underwent neurological examination, magnetic resonance imaging and ophthalmology evaluation. After 3years, the patients were subjected again to MRI. We studied 12 patients with localized scleroderma of the face. Of this total, headache being the most frequent complaint found in 66.7% of patients, 33.3% had neurological changes possibly associated with scleroderma. As for ophthalmologic evaluation, 25% of patients showed abnormalities. The most frequent parenchymal finding was the presence of lesions with hyperintense or hypointense signal in 75% of patients, followed by ventricular asymmetry at 16.7%. Of the patients who had neurological deficits, 75% also had a change to MRI. In all patients, imaging findings after 3years were unchanged. During this interval of 3years, 25% of patients showed signs of activity of scleroderma. Patients with localized scleroderma of the face have a high prevalence of neurological and ophthalmological changes. Based on these findings, we suggest that all cases of localized scleroderma of the face should be thoroughly

  8. PAR-2, IL-4R, TGF-beta and TNF-alpha in bronchoalveolar lavage distinguishes extrinsic allergic alveolitis from sarcoidosis

    Czech Academy of Sciences Publication Activity Database

    Matěj, R.; Smětáková, M.; Vašáková, M.; Nováková, J.; Šterclová, M.; Kukal, J.; Olejár, Tomáš

    2014-01-01

    Roč. 8, č. 2 (2014), s. 533-538 ISSN 1792-0981 Institutional support: RVO:67985823 Keywords : sarcoidosis * extrinsic allergic alveolitis * interleukin 4 receptor * transforming growth factor beta * tumor necrosis factor alpha * proteinase activated receptor 2 Subject RIV: EC - Immunology Impact factor: 1.269, year: 2014

  9. Lung inflammation in sarcoidosis: comparison of serum angiotensin-converting enzyme levels with bronchoalveolar lavage and gallium-67 scanning assessment of the T lymphocyte alveolitis

    International Nuclear Information System (INIS)

    Schoenberger, C.I.; Line, B.R.; Keogh, B.A.; Hunninghake, G.W.; Crystal, R.G.

    1982-01-01

    Serum angiotensin-converting enzyme (ACE) is elevated in many patients with pulmonary sarcoidosis and has been proposed as a measure of disease activity. The present study was designed to evaluate the possible relationship between serum ACE and direct measures of the intensity of the alveolitis of pulmonary sarcoidosis as measured by bronchoalveolar lavage and gallium-67 ( 67 Ga) scans. To accomplish this, 64 measurements of serum ACE, lavage T lymphocytes, and lung uptake of 67 Ga were performed in 41 patients with biopsy-proven sarcoidosis. Elevations of serum ACE were found on at least one occasion in 17 patients (41%). However, serum ACE was found to be a poor predictor of the intensity of alveolitis in sarcoidosis as assessed by the quantitation of bronchoalveolar lavage cells that were T lymphocytes and by 67 Ga scanning. Elevated serum ACE did not predict which patients would have elevated proportions of lavage T lymphocytes, which patients would demonstrate increased pulmonary uptake of 67 Ga, or which patients would have high-intensity alveolitis as defined by a combination of these criteria. These observations suggest that while serum ACE may be useful in diagnosing sarcoidosis, it does not reflect accurately the intensity of the alveolitis of the pulmonary component of this disease. (author)

  10. HRCT of the lung in collagen vascular diseases

    International Nuclear Information System (INIS)

    Diederich, S.; Roos, N.; Schmitz-Linneweber, B.; Gaubitz, M.; Peters, P.E.

    1996-01-01

    Collagen vascular diseases, representing systemic soft tissue disorders, may cause a broad spectrum of pathologic changes of the respiratory tract. The type and extent of manifestations can vary considerably among individuals and entities. This survey describes the chest radiographic and, in particular, high-resolution computed tomographic and, in particular, high-resolution computed tomographic (HRCT) findings of individual lesions of the respiratory tract. It includes fibrosing alveolitis (alveolitis, interstitial pneumonia, pulmonary fibrosis) and bronchial (bronchitis/bronchiolitis, bronchiectasis), pleural and vascular manifestations, as well as lymphadenopathy and abnormalities related to therapy. We present typical patterns of changes in progressive systemic sclerosis (PSS, scleroderma), systemic lupus erythematosus (SLE), mixed connective tissue disease (MCTD, Sharp syndrome), Sjoegren syndrome, overlap syndrome and rheumatoid arthritis (RA). Furthermore, we describe findings which are specific for individual entities such as esophageal involvement in PSS, acute pneumonitis and pulmonary hemorrhage in SLE, lymphoproliferative disease in Sjoegren syndrome and necrobiotic nodules in RA. (orig.) [de

  11. Bilateral Breast Enlargement: An Unusual Presentation of Superior Vena Cava Obstruction in a Hemodialysis Patient with Fibrosing Mediastinitis

    International Nuclear Information System (INIS)

    Goo, Dong Erk; Kim, Yong Jae; Choi, Deuk Lin; Kwon, Kui Hyang; Yang, Seung Boo

    2011-01-01

    A 67-year-old woman with end-stage renal disease presented with profound edema of both breasts. The presence of a patent hemodialysis basilic transposition fistula and superior vena cava obstruction (SVC), due to fibrosing mediastinitis, was demonstrated by the use of fistulography. Endovascular treatment with a balloon and stent caused immediate resolution of the breast edema.

  12. Incidence of childhood linear scleroderma and systemic sclerosis in the UK and Ireland.

    Science.gov (United States)

    Herrick, Ariane L; Ennis, Holly; Bhushan, Monica; Silman, Alan J; Baildam, Eileen M

    2010-02-01

    Childhood scleroderma encompasses a rare, poorly understood spectrum of conditions. Our aim was to ascertain the incidence of childhood scleroderma in its different forms in the UK and Ireland, and to describe the age, sex, and ethnicity of the cases. The members of 5 specialist medical associations including pediatricians, dermatologists, and rheumatologists were asked to report all cases of abnormal skin thickening suspected to be localized (including linear) scleroderma or systemic sclerosis (SSc) in children scleroderma and 7 (7%) with SSc. This gave an incidence rate per million children per year of 3.4 (95% confidence interval [95% CI] 2.7-4.1) for localized scleroderma, including an incidence rate of 2.5 (95% CI 1.8-3.1) for linear scleroderma, and 0.27 (95% CI 0.1-0.5) for SSc. Of the 87 localized cases, 62 (71%) had linear disease. Of localized disease cases, 55 (63%) were female, 71 (82%) were classified as white British, and the patients' mean age when first seen in secondary care was 10.4 years. Of the 7 SSc cases, all were female, 6 (86%) were white British, and the mean age when first seen was 12.1 years. The median delay between onset and being first seen was 13.1 months for localized scleroderma and 7.2 months for SSc. These data provide additional estimates of the incidence of this rare disorder and its subforms.

  13. Scleroderma in hospital settings in Lomé: 50 cases.

    Science.gov (United States)

    Akakpo, A S; Teclessou, J N; Mouhari-Touré, A; Saka, B; Matakloe, H; Kakpovi, K; Kombate, K; Pitché, P

    2017-11-01

    The aim of this study was to document the epidemiological and clinical profile, treatment used, and outcome of patients with scleroderma in hospital settings in Lomé. This descriptive study examined the records of all patients seen as outpatients or admitted for scleroderma in hospital dermatology and rheumatology departments in Lomé during the 20-year period of 1993-2012. During the study period, 50 (0.04%) of the 121,021 patients seen in these departments had scleroderma. There were 29 cases of localized scleroderma and 21 systemic cases, predominantly women (sex-ratio=0.2). The patients' mean age was 36 years. All patients with systemic scleroderma had speckled achromia (100%), and most (90.48%) had cutaneous sclerosis. After a mean follow-up period of 43.5 days, 71.43% of the patients had been lost to follow-up. All of the patients with localized scleroderma had cutaneous sclerosis, and the rate of loss to follow-up (after a mean of 17 days) was 96.55%. The results of this study confirm the extreme rarity of scleroderma in the teaching hospitals in Lomé and a clear female predominance. It points out the difficulty of management, which both influences and is aggravated by the high rate of loss to follow-up.

  14. The frequency of pulmonary hypertension in patients with juvenile scleroderma

    Directory of Open Access Journals (Sweden)

    Amra Adrovic

    2015-08-01

    Full Text Available Juvenile scleroderma (JS represents a rarely seen group of connective tissue diseases with multiple organ involvement. Cardiac involvement in JSS is well known and, although rare in children, it may be an important cause of mortality and morbidity. Therefore, an early determination of cardio-vascular and pulmonary involvement is of the most relevance to reduce the mortality in patients with juvenile scleroderma. The aim of the study was to explore the non-invasive methods (Doppler echocardiography, pulmonary function tests, Forced vital capacity (FVC and Carbon monoxide diffusion capacity (DLCO in the assessment of the cardiopulmonary involvement in patients with JS. The assessment of pulmonary arterial pressure (PAP and risk factors for pulmonary arterial hypertension (PAH were made by the measurement of maximum tricuspid insufficiency (TI, end-diastolic pulmonary insufficiency (PI, ratio of acceleration time (AT to ejection time (ET (AT/ET, right atrial pressure (RAP and contraction of vena cava inferior during inspiration. Thirty-five patients with confirmed JS were included in the study. The mean age of onset of the disease was 9.57 years (median 10 years, range 2-18 years. The mean disease duration and follow-up time was 2 years (median 1 year, range 0.5-8 years and 3.57 years (median 2 years, range 0.5-14.5 years, respectively.The values of all the analyzed parameters including TI, PI, AT/ET, PAP, FVC and DLCO were found to be within normal ranges in all the patients tested, confirming an uncommonness of cardiopulmonary involvement in patients with juvenile scleroderma.

  15. The frequency of pulmonary hypertension in patients with juvenile scleroderma.

    Science.gov (United States)

    Adrovic, Amra; Oztunc, Funda; Barut, Kenan; Koka, Aida; Gojak, Refet; Sahin, Sezgin; Demir, Tuncalp; Kasapcopur, Ozgur

    2015-08-22

    Juvenile scleroderma (JS) represents a rarely seen group of connective tissue diseases with multiple organ involvement. Cardiac involvement in JSS is well known and, although rare in children, it may be an important cause of mortality and morbidity. Therefore, an early determination of cardio-vascular and pulmonary involvement is of the most relevance to reduce the mortality in patients with juvenile scleroderma. The aim of the study was to explore the non-invasive methods (Doppler echocardiography, pulmonary function tests), Forced vital capacity (FVC) and Carbon monoxide diffusion capacity (DLCO) in the assessment of the cardiopulmonary involvement in patients with JS. The assessment of pulmonary arterial pressure (PAP) and risk factors for pulmonary arterial hypertension (PAH) were made by the measurement of maximum tricuspid insufficiency (TI), end-diastolic pulmonary insufficiency (PI), ratio of acceleration time (AT) to ejection time (ET) (AT/ET), right atrial pressure (RAP) and contraction of vena cava inferior during inspiration. Thirty-five patients with confirmed JS were included in the study. The mean age of onset of the disease was 9.57 years (median 10 years, range 2-18 years). The mean disease duration and follow-up time was 2 years (median 1 year, range 0.5-8 years) and 3.57 years (median 2 years, range 0.5-14.5 years), respectively.The values of all the analyzed parameters including TI, PI, AT/ET, PAP, FVC and DLCO were found to be within normal ranges in all the patients tested, confirming an uncommonness of cardiopulmonary involvement in patients with juvenile scleroderma.

  16. ANCA-associated vasculitis in scleroderma: a case series of fourteen patients

    Directory of Open Access Journals (Sweden)

    Kimberly P. Liang

    2011-01-01

    Full Text Available Antimyeloperoxidase (MPO, perinuclear antineutrophil cytoplasmic antibodies (pANCA, and/or clinically evident vasculitis in patients with scleroderma have been reported only rarely. The clinical significance and prognosis of ANCA-associated vasculitis in systemic sclerosis is uncertain. To report a case and identify the clinical characteristics of scleroderma patients with ANCA-associated vasculitis. Patients with both vasculitis and scleroderma occurring between 1976 to 2006 were identified using an electronic diagnostic index. These diagnoses were confirmed by retrospective review of complete medical records. Clinical features and outcomes recorded included age at vasculitis diagnosis, connective tissue disease (CTD features, type of scleroderma (limited or diffuse; ANCA serology, vasculitic organ system manifestations; and death. Fourteen cases of scleroderma patients with ANCA-associated and/or small vessel vasculitis were identified. The majority (71% were female, with mean age at vasculitis diagnosis 53 years. Seven patients (50% had overlap CTD features, and the majority (79% had limited variant of scleroderma. All of the 10 patients tested were MPO and pANCA positive. Seven patients (50% had glomerulonephritis, 11 (79% pulmonary involvement including 3 with pulmonary-renal syndrome, 6 skin purpura, and 5 mononeuritis multiplex and/or peripheral neuropathy. Six patients (43% died during followup to 2008. The presence of pANCA-associated small vessel vasculitis is a rarely reported complication of scleroderma. It occurs most commonly in women with limited scleroderma and most commonly includes pulmonary and/or renal involvement, including severe organ-threatening manifestations and death. Further studies are needed to clarify the role and clinical impact of ANCA in scleroderma patients with and without vasculitis.

  17. Localized scleroderma and its implications on quality of life

    Directory of Open Access Journals (Sweden)

    Nathalia Mebius

    2014-12-01

    Full Text Available Scleroderma is a disease of unknown etiology, which affects the connective tissue, is characterized histologically by a change in collagen synthesis with increased deposition, and dermal infiltration and thickening of the skin, asymmetric distribution without involvement of internal organs in this way (localized of the disease, but can lead, in some cases, important aesthetic and functional impairment of the patient. In our case, it is believed that the disease has already developed completely and now there is an overlap disease of old age, which makes their daily activities and independence.

  18. Scleroderma Renal Crisis: A Reversible Cause of Left Ventricular Dysfunction.

    Science.gov (United States)

    Martínez-Milla, Juan; Gaebelt, Hans Paul; Sánchez-Pernaute, Olga; Kallmeyer, Andrea; Romero, José; Farré, Jerónimo

    2018-05-02

    We report a case of acute left ventricular dysfunction due to myocarditis, in the setting of a scleroderma renal crisis. The case is particularly intriguing for the favorable outcome of both symptoms and heart function following immunosuppressive therapy. We also highlight the changes observed over time with image techniques as well as in electrocardiograms. Copyright © 2018 Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. Publicado por Elsevier España, S.L.U. All rights reserved.

  19. New developments in juvenile systemic and localized scleroderma.

    Science.gov (United States)

    Foeldvari, Ivan

    2013-11-01

    Juvenile localized scleroderma (jLS) and juvenile systemic sclerosis (jSS) are both orphan diseases, with jLS around 10 times more frequent than jSS. In recent years the time gap between the appearance of symptoms and diagnosis has become significantly shorter. This review focuses on the new classifications of jSS and jLS, and on the developments and adaptations of the outcome measures for certain organ involvements whereby progress has been made regarding pediatric patients. Copyright © 2013 Elsevier Inc. All rights reserved.

  20. Tumor-like calcifications with scleroderma. Thibierge-Weissenbach-Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Meyer, E.; Kulenkampff, H.A.; Kortenhaus, H.

    1987-12-01

    In patients with progressive scleroderma, interstitial calcifications are present to a varying extent. They are mostly located in the soft tissues of the fingers, resembling points, commas or dashes. They may also appear as 'calcinosis universalis' and reach a considerable size. Thus they mimic proliferative tumors. Scintigraphy, proving the existence of further calcifications can be helpful. We report the case of a female patient who presented with such a 'pseudotumor' of unusual size, site and extent in the lumbar region.

  1. Renal diagnostic nuclear medicine procedures in progressive systemic scleroderma (PSS)

    Energy Technology Data Exchange (ETDEWEB)

    Ammari, B.; Hotze, A.; Gruenwald, F.; Biersack, H.J.; Blitz, H.; Kuester, W.; Kreysel, H.W.

    1989-02-01

    The involvement of kidneys in progressive systemic scleroderma (PSS) is one of the most frequent causes of death in this disease. Using clinical criteria and laboratory tests only the frequency of kidney involvement would be clearly underestimated. Invasive diagnostic procedures such as biopsy and angiography can not be applied in those patients. Nuclear medicine techniques (hippurate clearance, DMSA-scan), however, offer non invasive and sensitive methods in the diagnosis of renal involvement in PSS patients. In our study 46 of 76 patients (60%) revealed pathologic findings. The mentioned diagnostic techniques show a high sensitivity and are in agreement with pathological findings described in PSS.

  2. Renal diagnostic nuclear medicine procedures in progressive systemic scleroderma (PSS)

    International Nuclear Information System (INIS)

    Ammari, B.; Hotze, A.; Gruenwald, F.; Biersack, H.J.; Blitz, H.; Kuester, W.; Kreysel, H.W.

    1989-01-01

    The involvement of kidneys in progressive systemic scleroderma (PSS) is one of the most frequent causes of death in this disease. Using clinical criteria and laboratory tests only the frequency of kidney involvement would be clearly underestimated. Invasive diagnostic procedures such as biopsy and angiography can not be applied in those patients. Nuclear medicine techniques (hippurate clearance, DMSA-scan), however, offer non invasive and sensitive methods in the diagnosis of renal involvement in PSS patients. In our study 46 of 76 patients (60%) revealed pathologic findings. The mentioned diagnostic techniques show a high sensitivity and are in agreement with pathological findings described in PSS. (orig.) [de

  3. Treatment of morphea or localized scleroderma: review of the literature.

    Science.gov (United States)

    Vilela, Fernanda Aguiar Santos; Carneiro, Sueli; Ramos-e-Silva, Marcia

    2010-10-01

    Scleroderma is a disease that affects the microvasculature and the connective tissue. These alterations produce fibrosis and blood vessel occlusion. Its cause is still unknown, although the exaggerated synthesis of collagens I and IV, detected in skin and vessels, may be related to genetic, immunologic and, less frequently, exogenous factors as inhalation of silica and polyvinyl chloride. There is a localized and a systemic form, which affects both adults and children. The treatment of the localized form, also called morphea, is still controversial, and, in this article, the authors will discuss the main agents that were found to improve the lesions and symptoms.

  4. A neoteric multidrug combination: novel approach to limited cutaneous systemic scleroderma involving the face

    Science.gov (United States)

    Kumar, M Hari; Kumar, M Siva; Kumar, Sabitha Hari; Kumar, Kingsly Selva

    2016-01-01

    Limited cutaneous scleroderma is a subtype of scleroderma limited to the skin of the face, hands, feet and forearms. We present a case of a 45-year-old woman affected by limited cutaneous systemic scleroderma involving the orofacial region and causing restricted mouth opening. The patient showed noteworthy improvement of the skin lesion by use of a combination of intralesional corticosteroid with hyaluronidase and various multiantioxidants, resulting in amelioration of her mouth opening problem. The patient gave her full informed written consent to this report being published. PMID:27033280

  5. A neoteric multidrug combination: novel approach to limited cutaneous systemic scleroderma involving the face.

    Science.gov (United States)

    Kumar, M Hari; Kumar, M Siva; Kumar, Sabitha Hari; Kumar, Kingsly Selva

    2016-03-31

    Limited cutaneous scleroderma is a subtype of scleroderma limited to the skin of the face, hands, feet and forearms. We present a case of a 45-year-old woman affected by limited cutaneous systemic scleroderma involving the orofacial region and causing restricted mouth opening. The patient showed noteworthy improvement of the skin lesion by use of a combination of intralesional corticosteroid with hyaluronidase and various multiantioxidants, resulting in amelioration of her mouth opening problem. The patient gave her full informed written consent to this report being published. 2016 BMJ Publishing Group Ltd.

  6. Multifocal fibrosing thyroiditis: report of 55 cases of a poorly recognized entity.

    Science.gov (United States)

    Fellegara, Giovanni; Rosai, Juan

    2015-03-01

    During the course of our consultation activity, we have recognized a peculiar form of thyroiditis in which multiple foci of fibrosis, most of which were associated with reactive atypia of the surrounding follicles, are present. We have referred to this condition, both in our consultation reports and in the third series of A.F.I.P. Fascicle on Tumors of the Thyroid Gland, as "multifocal fibrosing thyroiditis" or (less frequently) "multifocal sclerosing thyroiditis," which are descriptive terms that highlight the benign/inflammatory nature of the process, its multiplicity, and its unknown pathogenesis. The aim of this study is to better define the morphologic features of this process and correlate it with some clinical data. With this purpose, the consultation files of one of the authors (J.R.) were searched for cases coded as multifocal fibrosing thyroiditis or multifocal sclerosing thyroiditis in a 20-year period ranging from January 1989 to December 2009. A total of 55 cases were identified that displayed the above-listed features. There were 51 (93%) female and 4 (7%) male patients (F/M=12.75), with ages ranging between 15 and 71 years (mean age, 47.03 y; median age, 44.5 y). Microscopically, multiple foci of fibrosis were identified in all cases, their number ranging from 2 to 51 per case (mean number, 16), with a mean diameter of 3 mm (range: 0.36 to 15.1 mm). Although heterogenous in shape and size, the individual foci were rather similar to each other in composition, being characterized by a fibrotic poorly cellular center that merged with a cellular peripheral zone. Some of the follicular structures present at the periphery of the scar and-to a lesser extent-those entrapped inside it underwent complex reactive and regenerative (atypical) changes that simulated malignancy. We discuss the differential diagnosis with other benign and malignant thyroid conditions and speculate about its pathogenesis and possible relationship with papillary thyroid microcarcinoma.

  7. Fractional carbon dioxide laser versus low-dose UVA-1 phototherapy for treatment of localized scleroderma: a clinical and immunohistochemical randomized controlled study.

    Science.gov (United States)

    Shalaby, S M; Bosseila, M; Fawzy, M M; Abdel Halim, D M; Sayed, S S; Allam, R S H M

    2016-11-01

    Morphea is a rare fibrosing skin disorder that occurs as a result of abnormal homogenized collagen synthesis. Fractional ablative laser resurfacing has been used effectively in scar treatment via abnormal collagen degradation and induction of healthy collagen synthesis. Therefore, fractional ablative laser can provide an effective modality in treatment of morphea. The study aimed at evaluating the efficacy of fractional carbon dioxide laser as a new modality for the treatment of localized scleroderma and to compare its results with the well-established method of UVA-1 phototherapy. Seventeen patients with plaque and linear morphea were included in this parallel intra-individual comparative randomized controlled clinical trial. Each with two comparable morphea lesions that were randomly assigned to either 30 sessions of low-dose (30 J/cm 2 ) UVA-1 phototherapy (340-400 nm) or 3 sessions of fractional CO 2 laser (10,600 nm-power 25 W). The response to therapy was then evaluated clinically and histopathologically via validated scoring systems. Immunohistochemical analysis of TGF-ß1 and MMP1 was done. Patient satisfaction was also assessed. Wilcoxon signed rank test for paired (matched) samples and Spearman rank correlation equation were used as indicated. Comparing the two groups, there was an obvious improvement with fractional CO 2 laser that was superior to that of low-dose UVA-1 phototherapy. Statistically, there was a significant difference in the clinical scores (p = 0.001), collagen homogenization scores (p = 0.012), and patient satisfaction scores (p = 0.001). In conclusion, fractional carbon dioxide laser is a promising treatment modality for cases of localized morphea, with proved efficacy of this treatment on clinical and histopathological levels.

  8. Systemic scleroderma diagnosed after undergoing radiation therapy for breast cancer

    International Nuclear Information System (INIS)

    Sasaki, Tetsuo; Kakei, Masae

    1994-01-01

    A case of systemic scleroderma in which the symptoms became prominent after undergoing radiation therapy for breast cancer is reported. A 68-year-old woman, who had undergone a radical mastectomy for breast carcinoma at the age of 63 and thereafter received radiotherapy at 65, 66 and 67 years of age, visited our clinic complaining of skin sclerosis and Raynaud's phenomenon which she had noticed since the age of 65. The physical examination revealed not only postirradiation fibrosis and pigmentation, but also edematous sclerosis and the pigmentation of her extremities, as well as short frenulum of the tongue and digital pitting scars. She demonstrated serum anti-topoisomerase I antibodies, esophageal dysfunction and lung fibrosis. The histopathology of the forearm skin showed edema of the upper dermis as well as increased and homogenized collagen bundles in the middle and lower dermis. Since similar cases have been reported, it is considerable that radiation therapy may have thus worsened the lesions of scleroderma in this patient as well. (author)

  9. Systemic scleroderma diagnosed after undergoing radiation therapy for breast cancer

    Energy Technology Data Exchange (ETDEWEB)

    Sasaki, Tetsuo; Kakei, Masae (Yokohama City Univ. (Japan). Faculty of Medicine)

    1994-10-01

    A case of systemic scleroderma in which the symptoms became prominent after undergoing radiation therapy for breast cancer is reported. A 68-year-old woman, who had undergone a radical mastectomy for breast carcinoma at the age of 63 and thereafter received radiotherapy at 65, 66 and 67 years of age, visited our clinic complaining of skin sclerosis and Raynaud's phenomenon which she had noticed since the age of 65. The physical examination revealed not only postirradiation fibrosis and pigmentation, but also edematous sclerosis and the pigmentation of her extremities, as well as short frenulum of the tongue and digital pitting scars. She demonstrated serum anti-topoisomerase I antibodies, esophageal dysfunction and lung fibrosis. The histopathology of the forearm skin showed edema of the upper dermis as well as increased and homogenized collagen bundles in the middle and lower dermis. Since similar cases have been reported, it is considerable that radiation therapy may have thus worsened the lesions of scleroderma in this patient as well. (author).

  10. Measurement of transepidermal water loss in localized scleroderma.

    Science.gov (United States)

    Ďurčanská, Veronika; Jedličková, Hana; Vašků, Vladimír

    2016-05-01

    Localized scleroderma (LS) is a disease characterized by fibrotic changes in the dermis. Connective tissue growth factor and transforming growth factor β2 are the main mediators of fibrogenesis; this, along with excessive connective tissue production, affects epidermal keratinocytes, and thereby contributes to the changed quality of skin barrier. The objective of this article was to study the objective measurement of the skin barrier quality in LS with transepidermal water loss (TEWL) meter. The measurements of TEWL were performed on LS plaques in all three stages of various body locations. Control measurements were made on the contralateral side of healthy skin. The difference between TEWL in LS area and the contralateral side of the healthy skin was evaluated. A higher average TEWL 7.86 g/m(2) /h (SD 5.29) was observed on LS plaques compared with the control measurements on healthy skin 6.39 g/m(2) /h (SD 2.77). TEWL average values decreased from the inflammatory stage, through the sclerotic and to the atrophic stage. The mean difference 1.301 g/m(2) /h (SD 5.16) was found between TEWL on LS plaques and on the contralateral healthy skin in 82 measurements, i.e., a higher TEWL was observed in LS. The difference was statistically significant with p = 0.0250. Although fibrogenesis in scleroderma is localized in dermis, the skin barrier changes can be detected. © 2016 Wiley Periodicals, Inc.

  11. Localized scleroderma en coup de sabre in the Neurology Clinic.

    Science.gov (United States)

    Pinho, João; Rocha, João; Sousa, Filipa; Macedo, Cristiana; Soares-Fernandes, João; Cerqueira, João; Maré, Ricardo; Lourenço, Esmeralda; Pereira, João

    2016-07-01

    Localized scleroderma en coup de sabre (LScs) is a form of localized scleroderma thought to be an autoimmune disorder. Central nervous system involvement is not rare and neurological manifestations include seizures, focal neurological deficits, headache and neuropsychiatric changes. Patients attending the Neurology Clinic with the final diagnosis of LScs with neurological manifestations were identified and clinical and imagiological records reviewed. Five patients (0.024%) had LScs with neurological involvement, presenting with transient focal neurologic deficits, seizures, headache or migraine with aura. Neuroimaging studies confirmed localized skin depression and showed bone thinning, white matter lesions, brain calcifications, sulcal effacement and meningeal enhancement. Three patients experienced clinical improvement after immunosuppressive therapy, and in two of these patients neuroimaging findings also improved. Recognizing typical dermatologic changes is keystone for the diagnosis of LScs with neurological involvement. It is a diagnosis of exclusion and extensive etiological diagnostic evaluation should be performed. Treatment options, including conservative follow-up or immunosuppressive therapy, should be carefully considered. Copyright © 2016 Elsevier B.V. All rights reserved.

  12. Prevalence of localized scleroderma in the Krasnodar territory

    Directory of Open Access Journals (Sweden)

    M. M. Tlish

    2015-01-01

    Full Text Available The authors conducted a study of particular features of the course of localized scleroderma in the south of Russia (Krasnodar territory. 65 case histories were analyzed. Women suffered from the disease 2.8 times more often than men; one half of the sample (55.4% included patients aged 35-55; the disease duration of over a year prevailed (69.8%; the disease occurred against the background of an endocrine pathology in one third of all cases; one third of all women developed the disease during the postmenopausal period. Plaque scleroderma (56.9%, white spot disease (von Zumbusch psoriasis (16.9% and idiopathic atrophoderma of Pasini and Pierini (12.3% belonged to the key clinical forms. The average number of lesions was 2.4 ± 1.2 while almost a half of the patients (47.7% had three or more lesions. The clinical manifestations localized mostly on the back (46.5% and stomach (34.9%.

  13. Esophageal dysmotility in scleroderma: a prospective study of 183 cases.

    Science.gov (United States)

    Lahcene, M; Oumnia, N; Matougui, N; Boudjella, M; Tebaibia, A; Touchene, B

    2009-01-01

    The goal of the study was to evaluate the prevalence and risk factors of esophageal motor disorders in systemic sclerosis. In 183 consecutive cases of scleroderma, as diagnosed by American College of Rheumatology criteria (1980). Patients' mean age was 40.6+/-13.3 years, the gender ratio was 0.13 and the average duration of disease was 6.8+/-7.5 years. A localized, cutaneous form was observed in 148 patients (81%) and a diffuse form in 35 (19%). All patients underwent upper gastrointestinal endoscopy and standard esophageal manometry. Esophageal symptoms and reflux esophagitis were found in 108 (59%) and 68 (37%) of patients, respectively. Esophageal motor disorders were present in 148 patients (81%), and were associated with a hypotensive lower esophageal sphincter in 114 (62%). The presence of these motor abnormalities was not related to age, gender, skin extension or duration of disease. Esophageal motor disorders were present in almost all patients with esophageal symptoms or esophagitis, and were also found in 48 (64%) of the asymptomatic patients. Esophageal motor disorders are frequently seen in scleroderma, especially in cases with clinical symptoms, but are not associated with a specific form of the disease.

  14. Race and association with disease manifestations and mortality in scleroderma: a 20-year experience at the Johns Hopkins Scleroderma Center and review of the literature.

    Science.gov (United States)

    Gelber, Allan C; Manno, Rebecca L; Shah, Ami A; Woods, Adrianne; Le, Elizabeth N; Boin, Francesco; Hummers, Laura K; Wigley, Fredrick M

    2013-07-01

    Experience suggests that African Americans may express autoimmune disease differently than other racial groups. In the context of systemic sclerosis (scleroderma), we sought to determine whether race was related to a more adverse expression of disease. Between January 1, 1990, and December 31, 2009, a total of 409 African American and 1808 white patients with scleroderma were evaluated at a single university medical center. While the distribution by sex was virtually identical in both groups, at 82% female, African American patients presented to the center at a younger mean age than white patients (47 vs. 53 yr; p scleroderma-specific autoantibody status, and for the socioeconomic measures of educational attainment and health insurance status, diminished these risk estimates (RR, 1.3; 95% CI, 1.0-1.6). The heightened risk of mortality persisted in strata defined by age at disease onset, diffuse cutaneous disease, anticentromere seropositivity, decade of care at the center, and among women. These findings support the notion that race is related to a distinct phenotypic profile in scleroderma, and a more unfavorable prognosis among African Americans, warranting heightened diagnostic evaluation and vigilant care of these patients. Further, we provide a chronologic review of the literature regarding race, organ system involvement, and mortality in scleroderma; we furnish synopses of relevant reports, and summarize findings.

  15. Treatment of linear scleroderma with oral 1,25-dihydroxyvitamin D3 (calcitriol) in seven children

    NARCIS (Netherlands)

    E.F. Elst (Elisabeth); L.W.A. van Suijlekom-Smit (Lisette); A.P. Oranje (Arnold)

    1999-01-01

    textabstractLinear scleroderma is a connective tissue disorder that characteristically involves the skin. Skin induration and pigmentary changes present in a linear distribution. Severe functional and cosmetic disability may occur, especially in growing children. No effective therapy for the

  16. Predictors of end stage lung disease in a cohort of patients with scleroderma

    OpenAIRE

    Morgan, C; Knight, C; Lunt, M; Black, C; Silman, A

    2003-01-01

    Objectives: To estimate the incidence of severe lung disease in patients with scleroderma and identify the combination(s) of features present at first assessment which would be useful to predict future risk of severe lung disease.

  17. INTERSTITIAL LUNG-DISEASE AND MYOSITIS IN A PATIENT WITH SIMULTANEOUSLY OCCURRING SARCOIDOSIS AND SCLERODERMA

    NARCIS (Netherlands)

    GROEN, H; POSTMA, DS; KALLENBERG, CGM

    1993-01-01

    A patient initially presented with sarcoidosis in combination with myositis of sarcoid origin and Raynaud's phenomenon. During the course of his disease, he additionally developed scleroderma. Bronchoalveolar lavage, performed because of increase of interstitial markings in the presence of enlarged

  18. Alternatively activated macrophages (M2 macrophages) in the skin of patient with localized scleroderma.

    Science.gov (United States)

    Higashi-Kuwata, Nobuyo; Makino, Takamitsu; Inoue, Yuji; Takeya, Motohiro; Ihn, Hironobu

    2009-08-01

    Localized scleroderma is a connective tissue disorder that is limited to the skin and subcutaneous tissue. Macrophages have been reported to be particularly activated in patients with skin disease including systemic sclerosis and are potentially important sources for fibrosis-inducing cytokines, such as transforming growth factor beta. To clarify the features of immunohistochemical characterization of the immune cell infiltrates in localized scleroderma focusing on macrophages, skin biopsy specimens were analysed by immunohistochemistry. The number of cells stained with monoclonal antibodies, CD68, CD163 and CD204, was calculated. An evident macrophage infiltrate and increased number of alternatively activated macrophages (M2 macrophages) in their fibrotic areas were observed along with their severity of inflammation. This study revealed that alternatively activated macrophages (M2 macrophages) may be a potential source of fibrosis-inducing cytokines in localized scleroderma, and may play a crucial role in the pathogenesis of localized scleroderma.

  19. Emergency Surgery in a Patient with Scleroderma - Anaesthetic Challenges: A Case Report

    Directory of Open Access Journals (Sweden)

    Teena Bansal

    2013-06-01

    Full Text Available Scleroderma (progressive systemic sclerosis is a multisystem disease involving the skin, airway, musculoskeletal, gastrointestinal, pulmonary, renal and cardiac systems that can pose a significant challenge for the anaesthetist. The multisystem involvement of scleroderma can impact on every aspect of anaesthetic care especially airway management. There are no specific contraindications to the use of any type of anaesthesia, although the selection must be guided by identification of organ dysfunction. The anaesthetist must be aware of the organs involved, the severity of the disease and the associated anaesthetic considerations and potential risks in order to safely & skilfully manage the patient with scleroderma. We hereby present a case report of a patient with scleroderma for emergency orbital decompression because of orbital cellulitis.

  20. Brain cavernomas associated with en coup de sabre linear scleroderma: Two case reports

    Directory of Open Access Journals (Sweden)

    Laxer Ronald M

    2011-07-01

    Full Text Available Abstract Linear scleroderma is a form of localized scleroderma that primarily affects the pediatric population. When it occurs on the scalp or forehead, it is termed "en coup de sabre". In the en coup de sabre subtype, many extracutaneous associations, mostly neurological, have been described. A patient with linear scleroderma en coup de sabre was noted to have ipsilateral brain cavernomas by magnetic resonance imaging. Using a worldwide pediatric rheumatology electronic list-serve, another patient with the same 2 conditions was identified. These two patients are reported in this study. Consideration of neuroimaging studies to disclose abnormal findings in patients with linear scleroderma en coup de sabre is important for potentially preventing and treating neurological manifestations associated with this condition.

  1. First record of Scleroderma polyrhizum Pers. (Gasteromycetes from Brazil Primeiro registro de Scleroderma polyrhizum Pers. (Gasteromycetes para o Brasil

    Directory of Open Access Journals (Sweden)

    Iuri Goulart Baseia

    2000-08-01

    Full Text Available The ectomycorrhizal, gasteroid fungus, Scleroderma polyrhizum is recorded from Brazil for the first time, growing under Caryocar brasiliense Camb. (Caryocaraceae a widespread native tree of the Brazilian "cerrado" vegetation. Macro and microscopic features were described using basidiocarps from fresh and dried material treated according to the traditional methodology for Gasteromycetes. The characteristics of the material were close to those of the original description given by Persoon. All material collected was associated with roots of C brasiliense.Scleroderma polyrhizum, um gasteromiceto ectomicorrízico, é registrado pela primeira vez para o Brasil, crescendo sob Caryocar brasillense Camb. (Caryiocaraceae espécie arbórea comum e nativa da vegetação de cerrado brasileiro. Os caracteres macro e microscópicos foram descritos a partir de basidiocarpos frescos e secos, segundo a metodologia tradicional utilizada em estudos taxonómicos de Gasteromycetes. As características do material analisado foram similares à descrição original fornecida por Persoon. Todo material coletado estava associado a raízes de C. brasillense.

  2. New directions for patient-centred care in scleroderma: the Scleroderma Patient-centred Intervention Network (SPIN)

    Science.gov (United States)

    Thombs, Brett D.; Jewett, Lisa R.; Assassi, Shervin; Baron, Murray; Bartlett, Susan J.; Costa Maia, Angela; El-Baalbaki, Ghassan; Furst, Daniel E.; Gottesman, Karen; Haythornthwaite, Jennifer A.; Hudson, Marie; Ann Impens, PhD; Korner, Annett; Leite, Catarina; Mayes, Maureen D.; Malcarne, Vanessa L.; Motivala, Sarosh J.; Mouthon, Luc; Nielson, Warren R.; Plante, Diane; Poiraudeau, Serge; Poole, Janet L.; Pope, Janet; Sauve, Maureen; Steele, Russell J.; Suarez-Almazor, Maria E.; Taillefer, Suzanne; van den Ende, Cornelia H.; Erin Arthurs, BSc; Bassel, Marielle; Delisle, Vanessa; Milette, Katherine; Leavens, Allison; Razykov, Ilya; Khanna, Dinesh

    2014-01-01

    Systemic sclerosis (SSc), or scleroderma, is a chronic multisystem autoimmune disorder characterised by thickening and fibrosis of the skin and by the involvement of internal organs such as the lungs, kidneys, gastrointestinal tract, and heart. Because there is no cure, feasibly-implemented and easily accessible evidence-based interventions to improve health-related quality of life (HRQoL) are needed. Due to a lack of evidence, however, specific recommendations have not been made regarding non-pharmacological interventions (e.g. behavioural/psychological, educational, physical/occupational therapy) to improve HRQoL in SSc. The Scleroderma Patient-centred Intervention Network (SPIN) was recently organised to address this gap. SPIN is comprised of patient representatives, clinicians, and researchers from Canada, the USA, and Europe. The goal of SPIN, as described in this article, is to develop, test, and disseminate a set of accessible interventions designed to complement standard care in order to improve HRQoL outcomes in SSc. PMID:22244687

  3. Evaluation of serum concentrations of the selected cytokines in patients with localized scleroderma

    Directory of Open Access Journals (Sweden)

    Jolanta Budzyńska-Włodarczyk

    2016-02-01

    Full Text Available Introduction : Localized scleroderma is an autoimmune disease primarily affecting the skin. The cause of disease remains unexplained although environmental factors are implicated, which are likely to be responsible for activation of the endothelium and subsequent inflammation leading to excessive synthesis of collagen and extracellular matrix components. Aim: To determine concentrations of interleukin (IL-27, transforming growth factor (TGF-β1, TGF-β2, IL-6, and sIL-6R in patients with localized scleroderma compared to controls and to assess the relations between their levels and laboratory markers. Material and methods: The study encompassed 17 females with localized scleroderma (aged 25–67. The control group consisted of 30 age-matched healthy women. The blood was sampled from the basilic vein. Serum levels of cytokines were determined using ELISA. Results : The TGF-β2 levels were found to be significantly lower in patients with localized scleroderma compared to controls. Concentrations of TGF-β1 were decreased in scleroderma patients when compared to controls but without statistical significance. There were no significant differences in serum IL-6, sIL-6R and IL-27 levels between patients and the control group; however, we found a significant positive correlation between the level of sIL-6 and ESR among subjects with localized scleroderma. Conclusions : The findings of decreased serum levels of TGF-β1 and TGF-β2 in patients with localized scleroderma demonstrate a possible association of these cytokines with pathogenesis of the disease. The results suggest also that sIL-6R is likely to be involved in inflammation in patients with localized scleroderma.

  4. Evaluation of serum concentrations of the selected cytokines in patients with localized scleroderma.

    Science.gov (United States)

    Budzyńska-Włodarczyk, Jolanta; Michalska-Jakubus, Małgorzata M; Kowal, Małgorzata; Krasowska, Dorota

    2016-02-01

    Localized scleroderma is an autoimmune disease primarily affecting the skin. The cause of disease remains unexplained although environmental factors are implicated, which are likely to be responsible for activation of the endothelium and subsequent inflammation leading to excessive synthesis of collagen and extracellular matrix components. To determine concentrations of interleukin (IL)-27, transforming growth factor (TGF)-β1, TGF-β2, IL-6, and sIL-6R in patients with localized scleroderma compared to controls and to assess the relations between their levels and laboratory markers. The study encompassed 17 females with localized scleroderma (aged 25-67). The control group consisted of 30 age-matched healthy women. The blood was sampled from the basilic vein. Serum levels of cytokines were determined using ELISA. The TGF-β2 levels were found to be significantly lower in patients with localized scleroderma compared to controls. Concentrations of TGF-β1 were decreased in scleroderma patients when compared to controls but without statistical significance. There were no significant differences in serum IL-6, sIL-6R and IL-27 levels between patients and the control group; however, we found a significant positive correlation between the level of sIL-6 and ESR among subjects with localized scleroderma. The findings of decreased serum levels of TGF-β1 and TGF-β2 in patients with localized scleroderma demonstrate a possible association of these cytokines with pathogenesis of the disease. The results suggest also that sIL-6R is likely to be involved in inflammation in patients with localized scleroderma.

  5. [3H]thymidine labeling of dermal endothelial cells in scleroderma

    International Nuclear Information System (INIS)

    Fleischmajer, R.; Perlish, J.S.

    1977-01-01

    The purpose of this study was to estimate [ 3 H] thymidine labeling of endothelial cells of skin capillaries in localized scleroderma (LS) and systemic scleroderma (SS). Skin specimens from 14 patients with SS, 5 with LS, and 9 matched controls were studied by in vitro autoradiography. Capillaries from patients with SS showed a statistically significant increase in endothelial cell labeling when compared to vessels from controls

  6. A Case of Localized Scleroderma in a Sculptor and His Wife

    Science.gov (United States)

    Bakst, Richard; Kovarik, Carrie; Werth, Victoria P.

    2011-01-01

    SUMMARY The etiology of localized scleroderma is unknown, and its pathogenetic relationship to its systemic counterpart is unclear. Environmental exposures, notably to silica dust, have long been suspected in the pathogenesis of the disorder. However, its’ relationship to the localized variant has not been well described. Here we present two cases of localized scleroderma in a sculptor and his wife who have extensive exposure to silica dust. PMID:19955998

  7. Mortality and causes of death of 344 Danish patients with systemic sclerosis (scleroderma)

    DEFF Research Database (Denmark)

    Jacobsen, Søren; Halberg, P; Ullman, S

    1998-01-01

    To determine survival, mortality and causes of death in Danish patients with systemic sclerosis (scleroderma), and to analyse how these parameters are influenced by demographic variables and the extent of skin involvement.......To determine survival, mortality and causes of death in Danish patients with systemic sclerosis (scleroderma), and to analyse how these parameters are influenced by demographic variables and the extent of skin involvement....

  8. Subcorneal Pustular Dermatosis: A Case Report of a Patient with Diffuse Scleroderma

    Directory of Open Access Journals (Sweden)

    Fatemeh Mokhtari

    2018-01-01

    Full Text Available Subcorneal pustular dermatosis (SPD or Sneddon-Wilkinson disease is a rare, benign, chronic, sterile pustular eruption which is associated with various systemic diseases including immunoglobinopathies, neoplasms, and autoimmune disorders. This paper reports a case of SPD in a patient with diffuse scleroderma in a 37-year-old woman. The hypothesis that immune dysregulation may play a role in the pathogenesis of SPD was supposed by the coexistence of diffuse scleroderma and SPD in our patient.

  9. Juvenile localized scleroderma with port wine stain: Coincidental or possible common pathogenetic association

    Directory of Open Access Journals (Sweden)

    Seval Dogruk Kacar

    2015-01-01

    Full Text Available Port wine stain and juvenile localized scleroderma are two different dermatoses usually encountered in pediatric age group. Up to now, there are reports of morphea patients initially diagnosed and treated as port wine stain. Coexistence of both diseases is not found yet. We herein present a case of juvenile localized scleroderma on the left side of trunk, with congenital port wine stain located on the ipsilateral face at V1-V2 distribution.

  10. Juvenile localized scleroderma with port wine stain: coincidental or possible common pathogenetic association.

    Science.gov (United States)

    Kacar, Seval Dogruk; Ozuguz, Pinar; Polat, Serap; Kacar, Emre; Polat, Onur; Tokyol, Cigdem

    2015-01-01

    Port wine stain and juvenile localized scleroderma are two different dermatoses usually encountered in pediatric age group. Up to now, there are reports of morphea patients initially diagnosed and treated as port wine stain. Coexistence of both diseases is not found yet. We herein present a case of juvenile localized scleroderma on the left side of trunk, with congenital port wine stain located on the ipsilateral face at V1-V2 distribution.

  11. Influence of childhood scleroderma on physical function and quality of life.

    Science.gov (United States)

    Baildam, Eileen M; Ennis, Holly; Foster, Helen E; Shaw, Lindsay; Chieng, Alice S E; Kelly, Jane; Herrick, Ariane L; Richards, Helen L

    2011-01-01

    there have been few studies of quality of life in childhood scleroderma and these focused predominantly on self-perception and the influence of skin lesions. Our cross-sectional study aimed to describe the influence of childhood scleroderma on physical function and quality of life in relation to clinical and demographic measures. children with either localized scleroderma or systemic sclerosis (SSc) attending pediatric rheumatology clinics, together with their parents or guardians, were asked to complete a set of 4 validated measures. Clinical and demographic data were provided by consultant pediatric rheumatologists. in total, 28 children and their parents/guardians participated in the study (68% female, median age 13 yrs; 86% localized scleroderma, 14% SSc). The median Child Health Assessment Questionnaire (CHAQ) score was 0.1 (range 0-3, 0 indicating no impairment), the median Child Dermatology Life Quality Index (CDLQI) score was 5 (range 0-30, 0 indicating no impairment), and the median Child Quality of Life Questionnaire (CQOL) function score was 26 (range 0-105, 0 indicating no impairment). Family activity, measured by the Child Health Questionnaire (CHQ-PF50), was also moderately impaired by scleroderma, with a median score of 83 (0-100, 100 indicating no impairment). scleroderma had only a moderate effect on quality of life and physical function as measured by the 4 validated instruments. Although a small number of children reported greater impairment, this is an encouraging finding, given its potential disfiguring and debilitating effects.

  12. Determination of muscle microcirculation of the limbs of healthy persons and patients with scleroderma by means of /sup 133/Xe clearance. 2. Examination of patients with progressive scleroderma

    Energy Technology Data Exchange (ETDEWEB)

    Poenitzsch, I.; Wiemers, U.; Haustein, U.F.; Schneider, G. (Karl-Marx-Universitaet, Leipzig (German Democratic Republic). Radiologische Klinik)

    1984-01-01

    By means of /sup 133/Xe muscle clearance the blood flow of the musculus tibialis anterior and the musculus opponens pollicis was determined during nonischemic work and after 3 minutes ischemia in patients with progressive scleroderma and additionally of the ischemic musculus opponens pollicis following contrast baths. In relation to 53 patients with normal vessels the reactive hyperemia of the musculus tibialis anterior after ischemia and of the musculus opponens pollicis after heat, cold as well as arterial flow decreasing was significantly decreased in patients with scleroderma and was as a disturbance of the microcirculation realized. For scientific problems in progressive scleroderma the /sup 133/Xe muscle clearance is suitable as to the musculus opponens pollicis.

  13. Activity of superoxide dismutase in guinea pigs' bronchi in late periods of experimental allergic alveolitis development and their correction with thiotriazolin

    OpenAIRE

    Baida, Mariana Ljubomurivna; Fyrduchco – Regeda, Mariana Mukchailivna; Regeda, Stepan Mukchailovuch

    2017-01-01

    Baida Mariana Ljubomurivna, Fyrduchco – Regeda Mariana Mukchailivna, Regeda Stepan Mukchailovuch. Activity of superoxide dismutase in guinea pigs’ bronchi in late periods of experimental allergic alveolitis development and their correction with thiotriazolin. Journal of Education, Health and Sport. 2017;7(7):1265-1269. eISSN 2391-8306. DOI http://dx.doi.org/10.5281/zenodo.1175268 http://ojs.ukw.edu.pl/index.php/johs/article/view/5291 The journal has had 7 point...

  14. Exacerbação aguda da fibrose pulmonar idiopática

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    Natália Melo

    2009-03-01

    Full Text Available Resumo: Alguns doentes com fibrose pulmonar idiopática (FPI apresentam durante a sua evolução fases de agravamento clínico sem causa conhecida, designadas como “exacerbação aguda” ou “fase acelerada” da doença (EA. Caracterizam-se pelo agravamento marcado da dispneia, hipoxemia e pelo aparecimento de novas opacidades pulmonares ou pelo agravamento das já existentes no estudo imagiológico. Os achados histológicos típicos são o dano alveolar difuso (DAD sobreposto a alterações de pneumonia intersticial usual (UIP. Esta entidade clínica associa-se a uma mortalidade elevada, não havendo até ao momento nenhuma terapêutica de comprovada eficácia.Os autores descrevem os casos clínicos de cinco doentes que apresentaram alterações clínicas, funcionais e radiológicas sugestivas de EA-FPI, assim como o tratamento efectuado e a evolução observada, enquadrando-os na discussão das características normalmente apresentadas por esta entidade. Abstract: Some patients with Idiopathic Pulmonary Fibrosis (IPF have disease accelerated deterioration without identifiable cause referred as “acute exacerbation” or “accelerated stage”. It is characterized by severe worsening of dyspnea, hypoxemia and new or progressive opacities on imaging studies. The typical histological findings are diffuse alveolar damage in addition to the features of usual interstitial pneumonia pattern. Mortality in this clinical entity is very high and no efficacious therapeutic have been described.The authors describe the clinical, functional and radiological features, treatment and evolution of five patients with IPF acute exacerbation. A discussion will be carry out concerning the IPF acute exacerbation usual features comparing with the alterations noticed in those patients. Palavras-chave: Fibrose pulmonar idiopática, exacerbação aguda, Key words: Idiopathic

  15. Fibrose quística: Revisão

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    C. Damas

    2008-01-01

    Full Text Available Resumo: A fibrose quística (FQ é a doença autossómica recessiva mais frequente na raça caucasiana. Caracteriza-se por mutações na CFTR, uma proteína transmembranar responsável pelo transporte de cloretos. Esta proteína tem uma ampla distribuição epitelial, o que dá um carácter sistémico a esta doença e consequentemente múltiplas manifestações clínicas de gravidade variável. A melhoria dos cuidados de saúde, associada ao desenvolvimento do arsenal terapêutico, permitiu um aumento da sobrevida destes doentes, de tal forma que a FQ já não pode ser abordada como doença da idade pediátrica. Também a evolução técnica na transplantação abriu novas perspectivas quanto ao tratamento desta afecção.Assim, cada vez mais esta patologia implica um envolvimento multidisciplinar no qual a pneumologia tem uma parte preponderante. Abstract: Cystic Fibrosis (CF is the recessive autossomic disease more frequent in the caucasian race. The main characteristic is a mutation in CFTR, a trans-membranar protein, responsible for chlorates transportation. This protein has a diffuse epithelial distribution, which gives a multissistemic involvement to this disease, with clinical manifestations with variable degrees of severity. The development of better health care associated with new therapeutic options became responsible for an increase of survival, so CF is no longer a paediatric disease. Lung transplantation also has an important role, bringing new treatment perspectives.So, this pathology has an increased multi-disciplinary involvement in which the pulmonologist have a preponderant role. Palavras-chave: Fibrose quística, revisão, Key-words: Cystic fibrosis, review

  16. Linear scleroderma en coup de sabre including abnormal dental development

    DEFF Research Database (Denmark)

    Hørberg, M; Lauesen, S R; Daugaard-Jensen, J

    2015-01-01

    BACKGROUND: Linear scleroderma en coup de sabre (SCS) is a rare skin condition, where dense collagen is deposited in a localised groove of the head and neck area resembling the stroke of a sabre. The SCS may involve the oral cavity, but the severity and relation to this skin abnormality is unknow...... with a left-sided skin defect (SCS) and a left-sided local malformation in her dentition. It is possible that there is a developmental connection between these two left-sided defects, both with an ectodermal origin.......-UP: The patient has been regularly controlled and treated since she was first diagnosed. A surgical and orthodontic treatment was performed to ensure optimal occlusion, space and alveolar bone development. The present age of the patient is 14 years and 10 months. CONCLUSION: This case demonstrated a patient...

  17. Systemic Sclerosis Sine Scleroderma in Mexican Patients. Case Reports.

    Science.gov (United States)

    Vera-Lastra, Olga; Sauceda-Casas, Christian Alexis; Domínguez, María Del Pilar Cruz; Alvarez, Sergio Alberto Mendoza; Sepulceda-Delgado, Jesús

    2017-01-03

    Systemic sclerosis sine scleroderma (ssSSc) is a form of systemic sclerosis that is characterized by Raynaud's phenomenon (RP), visceral involvement without thickening of skin and anticentromere antibodies (ACA). We studied 10 ssSsc patients with a prevalence of 2%. The clinical signs were: RP 9/10, esophageal manifestations 8/10, pulmonary arterial hypertension 4/10, interstitial lung disease 4/10, cardiac signs 3/10 and ACA 8/10. In patients with RP, esophageal dysmotility, interstitial lung disease and pulmonary arterial hypertension should be tested for ACA in order to establish a prompt diagnosis and treatment of ssSSc. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  18. Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo

    Directory of Open Access Journals (Sweden)

    Megan E. MacGillivray

    2018-05-01

    Full Text Available Porphyria cutanea tarda (PCT is a cutaneous porphyria that presents later in life with cutaneous findings in sun-exposed sites. We report a complex case of PCT in a 67-year-old woman with an unusual constellation of cutaneous findings: scleroderma, acquired ichthyosis, and nonscarring alopecia. Possible triggers for her PCT include tamoxifen treatment for breast cancer and carrier status of the hemochromatosis gene. High-dose chloroquine was used to successfully achieve clinical remission and normalize her uroporphyrins. While on chloroquine she developed extensive classic vitiligo. It is not clear if this is another feature of her complex and unusual PCT, or a consequence of her antimalarial therapy.

  19. From Localized Scleroderma to Systemic Sclerosis: Coexistence or Possible Evolution.

    Science.gov (United States)

    Dilia, Giuggioli; Michele, Colaci; Emanuele, Cocchiara; Amelia, Spinella; Federica, Lumetti; Clodoveo, Ferri

    2018-01-01

    Systemic sclerosis (SSc) and localized scleroderma (LoS) are two different diseases that may share some features. We evaluated the relationship between SSc and LoS in our case series of SSc patients. We analysed the clinical records of 330 SSc patients, in order to find the eventual occurrence of both the two diseases. Eight (2.4%) female patients presented both the two diagnoses in their clinical histories. Six developed LoS prior to SSc; in 4/6 cases, the presence of autoantibodies was observed before SSc diagnosis. Overall, the median time interval between LoS and SSc diagnosis was 18 (range 0-156) months. LoS and SSc are two distinct clinical entities that may coexist. Moreover, as anecdotally reported in pediatric populations, we suggested the possible development of SSc in adult patients with LoS, particularly in presence of Raynaud's phenomenon or antinuclear antibodies before the SSc onset.

  20. Choroidal sclerosis in localized scleroderma (morphea en plaque).

    Science.gov (United States)

    Milenkovic, S; Petrovic, L; Risimic, D; Kosanovic-Jakovic, N; Jaksic, V; Djakovic, Z; Stojkovic, M; Risovic, D; Ivankovic, Lj; Ivancevic-Milenkovic, M

    2008-01-01

    Plaque morphea is a superficial type of morphea (localized scleroderma) which is characterized by various fibrotic areas of the dermis without systemic features. We present a 63-year-old man with morphea en plaque. The skin on his forearms and feet was taut, thickened and hidebound with scattered telangiectatic changes. Autoantibody profile was obtained and only ANA were positive (1:80). The patient had a decreased vision in the only functional, left eye. Our case is specific because the patient negated any kind of health problem, meaning the morphea and visual deterioration were of outstanding importance for him. Choroidal sclerosis and fundus appearance was extremely impressive and, to our knowledge, this is the first report of such unique case of ocular involvement in the literature. (c) 2008 S. Karger AG, Basel

  1. A cross-sectional electromyography assessment in linear scleroderma patients

    Science.gov (United States)

    2014-01-01

    Background Muscle atrophy and asymmetric extremity growth is a common feature of linear scleroderma (LS). Extra-cutaneous features are also common and primary neurologic involvement, with sympathetic dysfunction, may have a pathogenic role in subcutaneous and muscle atrophy. The aim was investigate nerve conduction and muscle involvement by electromyography in pediatric patients with LS. Methods We conducted a retrospective review of LS pediatric patients who had regular follow up at a single pediatric center from 1997–2013. We selected participants if they had consistently good follow up and enrolled consecutive patients in the study. We examined LS photos as well as clinical, serological and imaging findings. Electromyograms (EMG) were performed with bilateral symmetric technique, using surface and needle electrodes, comparing the affected side with the contralateral side. Abnormal muscle activity was categorized as a myopathic or neurogenic pattern. Results Nine LS subjects were selected for EMG, 2 with Parry-Romberg/Hemifacial Atrophy Syndrome, 7 linear scleroderma of an extremity and 2 with mixed forms (linear and morphea). Electromyogram analysis indicated that all but one had asymmetric myopathic pattern in muscles underlying the linear streaks. Motor and sensory nerve conduction was also evaluated in upper and lower limbs and one presented a neurogenic pattern. Masticatory muscle testing showed a myopathic pattern in the atrophic face of 2 cases with head and face involvement. Conclusion In our small series of LS patients, we found a surprising amount of muscle dysfunction by EMG. The muscle involvement may be possibly related to a secondary peripheral nerve involvement due to LS inflammation and fibrosis. Further collaborative studies to confirm these findings are needed. PMID:25053924

  2. Multifocal fibrosing thyroiditis and its association with papillary thyroid carcinoma using BRAF pyrosequencing.

    Science.gov (United States)

    Frank, Renee; Baloch, Zubair W; Gentile, Caren; Watt, Christopher D; LiVolsi, Virginia A

    2014-09-01

    Multifocal fibrosing thyroiditis (MFT) is characterized by numerous foci of fibrosis in a stellate configuration with fibroelastotic and fibroblastic centers entrapping epithelial structures. MFT has been proposed as a risk factor for papillary thyroid carcinoma (PTC) development. We attempted to identify whether MFT showed such molecular changes and could possibly be related to PTC. We identified seven cases of PTC with MFT in our institutional pathology database and personal consult service of one of the authors (VAL) for the years 1999 to 2012. Areas of PTC, MFT, and normal tissue were selected for BRAF analysis. Macro-dissection, DNA extraction and PCR amplification, and pyrosequencing were performed to detect BRAF mutations in codon 600. All of the MFT lesions and normal thyroid tissue were negative for BRAF mutations. Of the seven PTCs analyzed, five (71 %) were negative for BRAF mutations, while two cases were positive. In our study, none of the MFT lesions harbored BRAF mutations, whereas 29 % (two of seven) PTCs in the same gland were positive. Hence, in this small study, we found no evidence that the MFT lesion is a direct precursor to PTC. It is likely an incidental bystander in the process and a reflection of the background thyroiditis.

  3. The spectrum of muscle histopathologic findings in 42 weak scleroderma patients

    Science.gov (United States)

    Paik, Julie J.; Wigley, Fredrick M.; Lloyd, Thomas E.; Corse, Andrea M.; Casciola-Rosen, Livia; Shah, Ami A.; Boin, Francesco; Hummers, Laura K.; Mammen, Andrew L.

    2015-01-01

    Objective To determine if distinct muscle pathological features exist in scleroderma subjects with weakness. Methods This retrospective study included weak scleroderma subjects with muscle biopsies available for review. Biopsies were systematically assessed for individual pathologic features including inflammation, necrosis, fibrosis, and acute neurogenic atrophy. Based on the aggregate individual features, biopsies were assigned a histopathologic category of polymyositis, dermatomyositis, necrotizing myopathy, non-specific myositis, “acute denervation”, “fibrosis only”, or “other”. Clinical data analyzed included autoantibody profiles, scleroderma subtype and disease duration, Medsger muscle severity scores, creatine kinase (CK), electromyography (EMG), and muscle magnetic resonance imaging (MRI). Results 42 subjects (79% female and 64% diffuse scleroderma) were included in this study. Necrosis (67%), inflammation (48%), acute neurogenic atrophy (48%), and fibrosis (33%) were the most prevalent pathologic features. The presence of fibrosis was strongly associated with anti-PM-Scl antibodies. Histopathologic categories included non-specific myositis (36%), necrotizing myopathy (21%), dermatomyositis (7%), “acute denervation” (7%), “fibrosis only” (7%), and polymyositis (5%). Disease duration of scleroderma at the time of muscle biopsy was shorter in polymyositis than other histopathologic categories. Patients with anti-PM-Scl and Scl-70 antibodies also had a shorter disease duration than those with other auto-antibody profiles. Conclusion Non-specific myositis and necrotizing myopathy were the most common histopathologic categories in weak scleroderma subjects. Surprisingly, nearly half of the subjects studied had histological evidence of acute motor denervation (acute neurogenic atrophy); this has not been previously reported. Taken together, these observations suggest that a variety of pathologic mechanisms may underlie the development of

  4. Clinicohistopathological correlations in juvenile localized scleroderma: studies on a subset of children with hypopigmented juvenile localized scleroderma due to loss of epidermal melanocytes.

    Science.gov (United States)

    Sung, Joanne J; Chen, Tina S; Gilliam, Anita C; McCalmont, Timothy H; Gilliam, Amy E

    2011-08-01

    Localized scleroderma or morphea is a connective tissue disorder characterized by fibrosis of the skin and subcutaneous tissue. Excessive accumulation of collagen underlies the fibrosis, yet the pathogenesis is unknown. A subset of localized scleroderma/morphea, juvenile localized scleroderma (JLS), affects children and adolescents. The clinical and microscopic features of JLS have not been fully characterized. The goal is to better characterize the microscopic features of JLS. We collected a distinctive data set of 35 children with JLS, 19 (54%) of whom presented with hypopigmented lesions, and performed a retrospective chart and pathology review. We had adequate tissue for immunostaining studies on 8 of these individuals. We found that: (1) CD34 and factor XIIIa immunostaining, reported previously in adult morphea and scleroderma, when used with clinical information, is valuable for confirming a diagnosis of JLS; and (2) presence of hypopigmented lesions in JLS correlates with immunostaining studies. Decreased numbers of MelanA(+) melanocytes were present at the dermoepidermal junction in lesional skin in two of 3 children with hypopigmented JLS and in two of 4 children with nonhypopigmented JLS. The number of cases is small, a function of the small number of children who have biopsy specimens with material sufficient for multiple immunostaining procedures. These results provide a useful immunostaining method for confirmation of the diagnosis of JLS. They suggest a complex autoimmune phenotype in some children with JLS. Copyright © 2010 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  5. Autoantigens targeted in scleroderma patients with vascular disease are enriched in endothelial lineage cells

    Science.gov (United States)

    McMahan, Zsuzsanna H.; Cottrell, Tricia R.; Wigley, Fredrick M.; Antiochos, Brendan; Zambidis, Elias T.; Park, Tea Soon; Halushka, Marc K.; Gutierrez-Alamillo, Laura; Cimbro, Raffaello; Rosen, Antony; Casciola-Rosen, Livia

    2016-01-01

    Objective Scleroderma patients with autoantibodies to centromere proteins (CENPs) and/or interferon-inducible protein 16 (IFI16) are at increased risk of severe vascular complications. We set out to define whether these autoantigens are enriched in cells of the vasculature. Methods Successive stages of embryoid bodies (EBs) as well as vascular progenitors were used to evaluate the expression of scleroderma autoantigens IFI16 and CENP by immunoblotting. CD31 was included to mark early blood vessels. IFI16 and CD31 expression were defined in skin paraffin sections from scleroderma patients and from healthy controls. IFI16 expression was determined by flow cytometry in circulating endothelial cells (CECs) and circulating progenitor cells (CPCs). Results Expression of CENP-A, IFI16 and CD31 was enriched in EBs at days 10 and 12 of differentiation, and particularly in cultures enriched in vascular progenitors (IFI16, CD31, CENPs A and-B). This pattern was distinct from that of comparator autoantigens. Immunohistochemical staining of skin paraffin sections showed enrichment of IFI16 in CD31-positive vascular endothelial cells in biopsies from scleroderma patients and normal controls. Flow cytometry analysis revealed IFI16 expression in CPCs, but minimal expression in CECs. Conclusion Expression of scleroderma autoantigens IFI16 and CENPs, which are associated with severe vascular disease, is increased in vascular progenitors and mature endothelial cells. High level, lineage-enriched expression of autoantigens may explain the striking association between clinical phenotypes and the immune targeting of specific autoantigens. PMID:27159521

  6. Histopathologic Overlap between Fibrosing Mediastinitis and IgG4-Related Disease

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    Tobias Peikert

    2012-01-01

    Full Text Available Fibrosing mediastinitis (FM and IgG4-related disease (IgG4-RD are two fibroinflammatory disorders with potentially overlapping clinical and radiological features. In this paper, we looked for histopathologic features of IgG4-RD and enumerated infiltrating IgG4-positive plasma cells within mediastinal tissue biopsies from FM patients. We identified 15 consecutive FM surgical mediastinal tissue biopsies between 1985 and 2006. All patients satisfied the clinical and radiological diagnostic criteria for FM. All patients had either serological or radiological evidence of prior histoplasmosis or granulomatous disease, respectively. Formalin-fixed paraffin-embedded tissue sections of all patients were stained for H&E, IgG, and IgG4. Three samples met the predefined diagnostic criteria for IgG4-RD. In addition, characteristic histopathologic changes of IgG4-RD in the absence of diagnostic numbers of tissue infiltrating IgG4-positive plasma cells were seen in a number of additional cases (storiform cell-rich fibrosis in 11 cases, lymphoplasmacytic infiltrate in 7 cases, and obliterative phlebitis/arteritis in 2 cases. We conclude that up to one-third of histoplasmosis or granulomatous-disease-associated FM cases demonstrate histopathological features of IgG4-RD spectrum. Whether these changes occur as the host immune response against Histoplasma or represent a manifestation of IgG4-RD remains to be determined. Studies to prospectively identify these cases and evaluate their therapeutic responses to glucocorticoids and/or other immunosuppressive agents such as rituximab are warranted.

  7. Morphologic and molecular study of lung cancers associated with idiopathic pulmonary fibrosis and other pulmonary fibroses.

    Science.gov (United States)

    Guyard, Alice; Danel, Claire; Théou-Anton, Nathalie; Debray, Marie-Pierre; Gibault, Laure; Mordant, Pierre; Castier, Yves; Crestani, Bruno; Zalcman, Gérard; Blons, Hélène; Cazes, Aurélie

    2017-06-15

    Primitive lung cancers developed on lung fibroses are both diagnostic and therapeutic challenges. Their incidence may increase with new more efficient lung fibrosis treatments. Our aim was to describe a cohort of lung cancers associated with idiopathic pulmonary fibrosis (IPF) and other lung fibrotic disorders (non-IPF), and to characterize their molecular alterations using immunohistochemistry and next-generation sequencing (NGS). Thirty-one cancer samples were collected from 2001 to 2016 in two French reference centers for pulmonary fibrosis - 18 for IPF group and 13 for non-IPF group. NGS was performed using an ampliseq panel to analyze hotspots and targeted regions in 22 cancer-associated genes. ALK, ROS1 and PD-L1 expressions were assessed by immunohistochemistry. Squamous cell carcinoma was the most frequent histologic subtype in the IPF group (44%), adenocarcinoma was the most frequent subtype in the non-IPF group (62%). Forty-one mutations in 13 genes and one EGFR amplification were identified in 25 samples. Two samples had no mutation in the selected panel. Mutations were identified in TP53 (n = 20), MET (n = 4), BRAF (n = 3), FGFR3, PIK3CA, PTEN, STK11 (n = 2), SMAD4, CTNNB1, DDR2, ERBB4, FBXW7 and KRAS (n = 1) genes. No ALK and ROS1 expressions were identified. PD-L1 was expressed in 10 cases (62%) with only one (6%) case >50%. This extensive characterization of lung fibrosis-associated cancers evidenced molecular alterations which could represent either potential therapeutic targets either clues to the pathophysiology of these particular tumors. These findings support the relevance of large molecular characterization of every lung fibrosis-associated cancer.

  8. Fibrosing variant of Hashimoto thyroiditis is an IgG4 related disease.

    Science.gov (United States)

    Deshpande, Vikram; Huck, Amelia; Ooi, Esther; Stone, John H; Faquin, William C; Nielsen, G Petur

    2012-08-01

    Hashimoto thyroiditis (HT) and the fibrosing variant of Hashimoto thyroiditis (FVHT) are immune-mediated tumefactive lesions of the thyroid. Immunoglobulin G4-related disease (IgG4-RD) is now a widely recognised multi-organ system disease characterised by elevated serum and tissue concentrations of IgG4. In this study, the authors address several unresolved questions pertaining to the relationship between HT and FVHT, and the association of each of these diseases with IgG4-RD. The authors evaluated 28 consecutive cases of HT and nine cases of FVHT. The clinical, demographic and serological data were recorded. The slides were stained immunohistochemically using antibodies to IgG4 and IgG and the quantitative analysis was recorded. Data on thyroid function tests were available on seven cases of FVHT and 14 cases of HT. Based on the availability of data, hypothyroidism was noted in 62% (9/14) of HT and 86% of FVHT (6/7). FVHT demonstrated an exaggerated lobular pattern with lobules separated by cellular storiform-type fibrosis, resembling fibrosis seen in other forms of IgG-RD. The median IgG4 counts per high power field (×40) in HT and FVHT were 2.3 and 22, respectively. The median IgG4:IgG ratios in HT and FVHT were 0.11 and 0.58, respectively. The authors propose that FVHT belongs to the spectrum of IgG4-RD. Although a proportion of cases of HT show elevated numbers of IgG4 positive plasma cells, these cases lack the histological features typically associated with IgG4-RD, and thus the relationship between HT and IgG4-RD remains unproven.

  9. ESTUDO BIOQUÍMICO DO POTENCIAL DA MEMBRANA AMNIÓTICA NA FIBROSE HEPÁTICA INDUZIDA EM RATOS

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    Shaine Silva Maciel

    2016-11-01

    Full Text Available A fibrose hepática causada por obstrução do ducto biliar induz alterações tanto na estrutura como na função do fígado, e pode levar a cirrose e insuficiência hepática, quando não tradada. A membrana amniótica humana (MA devido às suas propriedades anti-inflamatórias e anti-fibróticas pode ser uma terapia alternativa. A proposta desse trabalho é analisar as alterações nos níveis séricos das principais enzimas celulares e da albumina, na fibrose hepática induzida pela ligadura do ducto biliar (LDB e após o tratamento com a MA. Dez ratos foram divididos nos grupos LDB e LDB+MA, e eutanasiados após 9 semanas da LDB. As amostras de sangue foram processadas bioquimicamente para análise da albumina (ALB, fosfatase alcalina (FA e transaminases (TGP e TGO.  Comparando os grupos experimentais verificou-se que no grupo LDB+MA houve a diminuição da ALB e TGP e no grupo LDB houve a diminuição da FA e TGO, entretanto sem apresentar diferença significante entre os grupos. Conclui-se que a MA, quando aplicada ao fígado no mesmo momento da indução da fibrose, parece não ter exercido efeito significativo na função hepática.

  10. Fibrose idiopática do mediastino: A propósito de um caso clínico

    Directory of Open Access Journals (Sweden)

    Maria João Canotilho

    2005-03-01

    Full Text Available Resumo: Descreve-se o caso clínico de um doente do sexo masculino com uma massa mediastínica de crescimento lento. Após terem-se efectuado vários exames complementares, foi através de cirurgia que se confirmou o diagnóstico de fibrose idiopática do mediastino. A remoção parcial da massa permitiu uma estabilização transitória das suas dimensões. Cerca de quatro anos depois, verificou-se um crescimento marcado com repercurssões importantes, através da inevitável compressão de estruturas vitais, que conduziram a hipertensão pulmonar grave. A fibrose idiopática do mediastino é uma entidade extremamente rara, estando descritas associações a outras patologias, mais frequentemente às auto-imunes, mas apresenta sempre um curso fatal quando não é possível a cirurgia.Rev Port Pneumol 2005; XI (2: 155-163 Abstract: We herein report a case of a male patient, who presented a mediastinal mass that had a slow growth over the years. After surgery, that made the diagnosis of idiopathic mediastinal fibrosis, the growth stabilized. Four years latter it was observed a substantial increase which lead to the inevitable compression of vital structures which, in turn, led to pulmonary hypertension. Idiopathic mediastinal fibrosis is an extremely rare pathology. There are same cases in which it is associated with other pathologies but has always a fatal prognosis when surgery is not an option.Rev Port Pneumol 2005; XI (2: 155-163 Palavras-chave: Fibrose do mediastino, síndroma da veia cava superior, hipertensão pulmonar, mediastinite fibrosante, Key words: Mediastinal fibrosis, superior vena cava syndrome, pulmonary hypertension, fibrosis mediastinites

  11. Detection of autoimmune antibodies in localized scleroderma by synthetic oligonucleotide antigens

    DEFF Research Database (Denmark)

    Samuelsen, Simone; Jørgensen, Christian Damsgaard; Mellins, Elizabeth D

    2018-01-01

    In this study, we developed a series of synthetic oligonucleotides that allowed us to investigate the details on the antigen recognition by autoimmune antibodies in localized scleroderma subjects. Besides dramatically improved analytical specificity of the assay, our data suggests a potential...... linking for antibodies to DNA to the biological status of disease state in localized scleroderma. Moreover, introducing chemical modifications into short synthetic deoxyribonucleic acid (DNA) and ribonucleic acid (RNA) molecules completely changed the binding titers of corresponding antibodies...... and their clinical relevance. The strongest observed effect was registered for the localized scleroderma skin damage index (LoSDI) on the IgG antibodies to TC dinucleotide-rich double-stranded antigen (p

  12. Hippocampal atrophy and developmental regression as first sign of linear scleroderma "en coup de sabre".

    Science.gov (United States)

    Verhelst, Helene E; Beele, Hilde; Joos, Rik; Vanneuville, Benedicte; Van Coster, Rudy N

    2008-11-01

    An 8-year-old girl with linear scleroderma "en coup de sabre" is reported who, at preschool age, presented with intractable simple partial seizures more than 1 year before skin lesions were first noticed. MRI revealed hippocampal atrophy, controlaterally to the seizures and ipsilaterally to the skin lesions. In the following months, a mental and motor regression was noticed. Cerebral CT scan showed multiple foci of calcifications in the affected hemisphere. In previously reported patients the skin lesions preceded the neurological signs. To the best of our knowledge, hippocampal atrophy was not earlier reported as presenting symptom of linear scleroderma. Linear scleroderma should be included in the differential diagnosis in patients with unilateral hippocampal atrophy even when the typical skin lesions are not present.

  13. Síndrome mieloproliferativa transitória associada à trissomia do 21 e fibrose hepática

    Directory of Open Access Journals (Sweden)

    Sant'Anna Anna L.

    2002-01-01

    Full Text Available Recém-nascidos com Síndrome de Down (SD podem apresentar uma proliferação transitória de células imaturas no sangue periférico e medula óssea. A leucometria pode estar muito elevada, impossibilitando o diagnóstico diferencial com leucemia mielóide aguda (LMA. Em contraste com a LMA, a SMT regride espontaneamente em quatro a oito semanas. Objetivo: Apresentar uma criança com SD, SMT e fibrose hepática, que resultou num prognóstico desfavorável. Relato do Caso: D.M.S., masculino, estigmas da SD, hepatoesplenomegalia, sopro sistólico. Hemograma: 95.000 leucócitos/mm³, 19% blastos, 170.000 plaquetas/mm³, hemoglobina 16,2g/dL. Bilirrubina total 35,86 mg/dL, GOT 184 UI, GPT 122 UI. Ecocardiograma: canal átrio-ventricular total, hipertensão pulmonar, persistência do canal arterial. Sorologias negativas. Biópsia hepática: colestase, fibrose portal e sinusoidal, elementos mielóides imaturos. Após normalização da leucometria, manteve plaquetopenia e disfunção hepática. No 50º dia de vida, quimioterapia com Daunoblastina e Citarabina. Evoluiu com pneumonia e insuficiência renal. Óbito no 61ºdia. Comentários: A história natural da SMT gera questões intrigantes a respeito de sua origem, evolução e desenvolvimento de leucemia subseqüente. A disfunção hepática e a fibrose têm impacto prognóstico. Em relato anterior, de cada oito casos de SMT com disfunção hepática, seis evoluíram para óbito, sendo que fibrose hepática difusa, associada a eritropoese extra-medular, foi encontrada em quatro casos. Acredita-se que a lesão hepática resulta da produção de citocinas pelos megacariócitos, por ser o fígado o segundo órgão hematopoético de células anormais, após a medula óssea.

  14. Health-related quality of life, optimism, and coping strategies in persons suffering from localized scleroderma.

    Science.gov (United States)

    Szramka-Pawlak, B; Dańczak-Pazdrowska, A; Rzepa, T; Szewczyk, A; Sadowska-Przytocka, A; Żaba, R

    2013-01-01

    The clinical course of localized scleroderma may consist of bodily deformations, and bodily functions may also be affected. Additionally, the secondary lesions, such as discoloration, contractures, and atrophy, are unlikely to regress. The aforementioned symptoms and functional disturbances may decrease one's quality of life (QoL). Although much has been mentioned in the medical literature regarding QoL in persons suffering from dermatologic diseases, no data specifically describing patients with localized scleroderma exist. The aim of the study was to explore QoL in localized scleroderma patients and to examine their coping strategies in regard to optimism and QoL. The study included 41 patients with localized scleroderma. QoL was evaluated using the SKINDEX questionnaire, and levels of dispositional optimism were assessed using the Life Orientation Test-Revised. In addition, individual coping strategy was determined using the Mini-MAC scale and physical condition was assessed using the Localized Scleroderma Severity Index. The mean QoL score amounted to 51.10 points, with mean scores for individual components as follows: symptoms = 13.49 points, emotions = 21.29 points, and functioning = 16.32 points. A relationship was detected between QoL and the level of dispositional optimism as well as with coping strategies known as anxious preoccupation and helplessness-hopelessness. Higher levels of optimism predicted a higher general QoL. In turn, greater intensity of anxious preoccupied and helpless-hopeless behaviors predicted a lower QoL. Based on these results, it may be stated that localized scleroderma patients have a relatively high QoL, which is accompanied by optimism as well as a lower frequency of behaviors typical of emotion-focused coping strategies.

  15. Intratracheal injection of adenovirus containing the human MNSOD transgene protects athymic nude mice from irradiation-induced organizing alveolitis

    International Nuclear Information System (INIS)

    Epperly, Michael W.; Bray, Jenifer A.; Krager, Stephen; Berry, Luann M.; Gooding, William; Engelhardt, John F.; Zwacka, Ralf; Travis, Elizabeth L.; Greenberger, Joel S.

    1999-01-01

    Purpose: A dose and volume limiting factor in radiation treatment of thoracic cancer is the development of fibrosis in normal lung. The goal of the present study was to determine whether expression prior to irradiation of a transgene for human manganese superoxide dismutase (MnSOD) or human copper/zinc superoxide dismutase (Cu/ZnSOD) protects against irradiation-induced lung damage in mice. Methods and Materials: Athymic Nude (Nu/J) mice were intratracheally injected with 10 9 plaque-forming units (PFU) of a replication-incompetent mutant adenovirus construct containing the gene for either human MnSOD, human copper/zinc superoxide dismutase (Cu/ZnSOD) or LacZ. Four days later the mice were irradiated to the pulmonary cavity to doses of 850, 900, or 950 cGy. To demonstrate adenoviral infection, nested reverse transcriptase-polymerase chain reaction (RT-PCR) was carried out with primers specific for either human MnSOD or Cu/ZnSOD transgene on freshly explanted lung, trachea, or alveolar type II cells, and immunohistochemistry was used to measure LacZ expression. RNA was extracted on day 0, 1, 4, or 7 after 850 cGy of irradiation from lungs of mice that had previously received adenovirus or had no treatment. Slot blot analysis was performed to quantitate RNA expression for IL-1, tumor necrosis factor (TNF)-α, TGF-β, MnSOD, or Cu/ZnSOD. Lung tissue was explanted and tested for biochemical activity of MnSOD or Cu/ZnSOD after adenovirus injection. Other mice were sacrificed 132 days after irradiation, lungs excised, frozen in OCT, (polyvinyl alcohol, polyethylene glycol mixture) sectioned, H and E stained, and evaluated for percent of the lung demonstrating organizing alveolitis. Results: Mice injected intratracheally with adenovirus containing the gene for human MnSOD had significantly reduced chronic lung irradiation damage following 950 cGy, compared to control mice or mice injected with adenovirus containing the gene for human Cu/ZnSOD or LacZ. Immunohistochemistry

  16. Thrombocytopenia Associated with Localized Scleroderma: Report of Four Pediatric Cases and Review of the Literature.

    Science.gov (United States)

    Jindal, Ankur Kumar; Gupta, Anju; Dogra, Sunil; Rawat, Amit; Suri, Deepti; Ahluwalia, Jasmina; Singh, Surjit

    2017-07-01

    We report on four children with localized scleroderma (morphea) and thrombocytopenia. All four had the en coup de sabre subtype of morphea and had varying degrees of thrombocytopenia (8 × 10 9 /L to 120 × 10 9 /L). None of them had major bleeding manifestations, and thrombocytopenia resolved with treatment of morphea. (One patient was also given an injection of anti-D immunoglobulin.) We propose that thrombocytopenia associated with localized scleroderma is usually benign and requires no specific therapy. © 2017 Wiley Periodicals, Inc.

  17. Successful autologous hematopoietic stem cell transplantation for a patient with rapidly progressive localized scleroderma.

    Science.gov (United States)

    Nair, Velu; Sharma, Ajay; Sharma, Sanjeevan; Das, Satyaranjan; Bhakuni, Darshan S; Narayanan, Krishnan; Nair, Vivek; Shankar, Subramanian

    2015-03-01

    Autologous hematopoietic stem cell transplant (HSCT) for rapidly progressive disease has not been reported in localized scleroderma. Our patient, a 16-year-old girl had an aggressive variant of localized scleroderma, mixed subtype (linear-generalized) with Parry Romberg syndrome, with no internal organ involvement, that was unresponsive to immunosuppressive therapy and was causing rapid disfigurement. She was administered autologous HSCT in June 2011 and has maintained drug-free remission with excellent functional status at almost 3.5 years of follow-up. © 2015 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

  18. Experiencing work as a daily challenge: the case of scleroderma.

    Science.gov (United States)

    Mendelson, Cindy; Poole, Janet L; Allaire, Saralynn

    2013-01-01

    Little is known about the physical and discretionary aspects of work that people with scleroderma (SSc) find difficult. This article describes the findings from a study that explored the challenges and adaptations made by individuals with SSc to continue to work. Thirty-two employed individuals with SSc participated. Participants were predominantly women (82%), white (79%), and well educated (M = 16.9 years). The average age was 47.3 years, and 60.6% were married. Mean disease duration was 9.7 years, and 56.2% had diffuse SSc. Mean years on the job was 10.2 (SD ± 8.8), and 71.9% worked at least 35 hours per week. Participants engaged in a single structured interview about work-related challenges and adaptations. Content and thematic analysis was used to identify key themes across the interviews. Employees with SSc experienced Work as a daily challenge. This central theme described the general work experience for most participants. Three subthemes described their specific experiences: The work environment: Opportunities, challenges, and accommodations; Career planning; and Supportive others. The participants were anxious to find scenarios that allowed them to continue to work. Worksite accommodations and flexibility in scheduling can make the difference between working and disability.

  19. Scleroderma and the temporomandibular joint: reconstruction in 2 variants.

    Science.gov (United States)

    MacIntosh, Robert Bruce; Shivapuja, Prasanna-Kumar; Naqvi, Rabia

    2015-06-01

    This article reviews the pathophysiology of scleroderma (systemic sclerosis [SSc]) and its destructive effects on the mandible in general and the temporomandibular joint (TMJ) in particular. It discusses the considerations of operating on patients with devastating chronic disease and presents 2 cases of TMJ reconstruction in patients with the diagnosis. Two patients with different degrees of SSc involvement underwent TMJ reconstruction with costochondral grafts. The patients represent the surgical considerations pertinent to this disease and different outcomes as determined by the variance in severity of their afflictions. The 2 patients tolerated the surgeries well and exhibited improvement in function in the long-term. One patient thrives and continues to do well despite her SSc approximately 10 years postoperatively; the second patient died of her disease approximately 9 years after her initial surgical care. The experience with these 2 cases showed that patients with SSc can safely undergo TMJ reconstruction with anticipated good results, but that the overall severity of the disease remains paramount in determining the feasibility of corrective surgery under this diagnosis. Copyright © 2015 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  20. Elevated serum BAFF levels in patients with localized scleroderma in contrast to other organ-specific autoimmune diseases.

    Science.gov (United States)

    Matsushita, Takashi; Hasegawa, Minoru; Matsushita, Yukiyo; Echigo, Takeshi; Wayaku, Takamasa; Horikawa, Mayuka; Ogawa, Fumihide; Takehara, Kazuhiko; Sato, Shinichi

    2007-02-01

    Serum levels of B-cell activating factor belonging to the tumor necrosis factor family (BAFF), a potent B-cell survival factor, are elevated in patients with systemic autoimmune diseases, such as systemic lupus erythematosus (SLE), rheumatoid arthritis and systemic sclerosis (SSc). The objective of this study was to determine serum BAFF levels and relate the results to the clinical features in patients with organ-specific autoimmune diseases of the skin, such as localized scleroderma and autoimmune bullous diseases. Serum BAFF levels were examined by enzyme-linked immunosorbent assay in 44 patients with localized scleroderma, 20 with pemphigus vulgaris/pemphigus foliaceus, 20 with bullous pemphigoid and 30 healthy controls. Twenty patients with SSc and 20 with SLE were also examined as disease controls. Serum BAFF levels were elevated in localized scleroderma patients compared with healthy controls. Concerning localized scleroderma subgroups, patients with generalized morphea, the severest form of localized scleroderma, had higher serum BAFF levels than linear scleroderma or morphea patients. The BAFF levels of generalized morphea were comparable with those of SSc or SLE. Furthermore, serum BAFF levels correlated positively with antihistone antibody levels and the severity of skin lesion as well as the number of skin lesions. By contrast, serum BAFF levels were not significantly elevated in patients with pemphigus or pemphigoid. These results suggest that BAFF may be contributing to autoimmunity and disease development in localized scleroderma.

  1. Fibrose cística: uma abordagem clínica e nutricional Cystic fibrosis: a clinical and nutritional approach

    Directory of Open Access Journals (Sweden)

    Fernanda Ribeiro Rosa

    2008-12-01

    Full Text Available A fibrose cística é a doença genética letal mais comum em populações caucasianas e é caracterizada por infecções crônicas e recorrentes do pulmão, insuficiência pancreática e elevados níveis de cloro no suor. É uma doença de herança autossômica recessiva causada pela mutação no gene do Regulador da Condutância Transmembrana da Fibrose Cística, que induz o organismo a produzir secreções espessas e viscosas que obstruem os pulmões, o pâncreas e o ducto biliar. Muitos pacientes apresentam insuficiência pancreática, que leva a má-absorção de nutrientes especialmente de proteínas e lipídeos e a complicações gastrintestinais tais como prolapso retal, síndrome da obstrução intestinal, constipação e cirrose hepática. A fibrose cística normalmente é diagnosticada na infância, pelos programas de triagem neonatal ou pelo teste do suor. Devido aos vários sistemas envolvidos e à variabilidade e cronicidade da doença, uma abordagem multidisciplinar é essencial para auxiliar o paciente e sua família a compreenderem a doença e aderirem ao tratamento. A terapia atual da fibrose cística inclui a manutenção do estado nutricional, a remoção das secreções das vias aéreas com fisioterapia e mucolíticos, o uso de antibióticos para prevenção e tratamento de infecções, a prescrição de suplementos energéticos, dietas hiperlípidicas e hiperprotéicas, bem como a suplementação de minerais e vitaminas lipossolúveis. O objetivo deste trabalho foi realizar breve revisão de literatura sobre os aspectos clínicos e nutricionais da fibrose cística.Cystic fibrosis is the most common, lethal, genetic disease in Caucasian populations and is characterized by chronic and recurrent lung infections, pancreatic insufficiency and high sweat chloride levels. It is an autosomal recessive hereditary disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator gene which induces the body to

  2. Fibrose pulmonar idiopática: uma década de progressos Idiopathic pulmonary fibrosis: a decade of progress

    Directory of Open Access Journals (Sweden)

    Jeffrey J. Swigris

    2006-06-01

    Full Text Available Embora diagnósticos de fibrose pulmonar idiopática continuem sendo devastadores, avanços recentes têm melhorado nossa compreensão a respeito de muitas das facetas desta doença. Estas descobertas, juntamente com o aumento da disponibilidade geral de ensaios terapêuticos, encerram a promessa de um futuro mais promissor para pacientes com fibrose pulmonar idiopática. Por exemplo, nós temos agora uma compreensão mais abrangente a respeito dos critérios diagnósticos e da história natural da doença. Vários estudos têm mostrado que a mensuração simples da fisiologia pulmonar ou troca gasosa pode ser usada para prever a sobrevida do paciente. Através da identificação de várias vias moleculares que têm papéis importantes na patogênese da fibrose pulmonar idiopática, os pesquisadores têm produzido uma lista crescente de possíveis novos alvos terapêuticos para a doença. Vários ensaios terapêuticos prospectivos e controlados têm sido realizados. Outros estão em andamento ou ainda estão em fase de planejamento. Estes esforços têm avançado nosso conhecimento atual sobre fibrose pulmonar idiopática e levantado novas questões importantes, assim como têm gerado o interesse e o impulso necessários para avançar terreno na luta contra esta doença desafiadora. Este artigo oferece ao leitor um panorama dos avanços recentes nas pesquisas sobre fibrose pulmonar idiopática, tendo como foco a história natural, patogênese e tratamento.Although idiopathic pulmonary fibrosis remains a devastating diagnosis, recent advances have improved our understanding of many facets of this disease. These breakthroughs, combined with the increased general availability of therapeutic trials, hold the promise of a brighter future for idiopathic pulmonary fibrosis patients. For example, we now have a more comprehensive understanding of the diagnostic criteria and natural history of the disease. Several studies have shown that simple

  3. C14. Um caso de polimiosite, fibrose pulmonar e cancro do pulmão

    Directory of Open Access Journals (Sweden)

    Carlos Lopes

    2003-11-01

    Full Text Available Os autores apresentam o caso clínico de um doente do sexo masculino, de 67 anos, fumador (50 UMA. Trabalhou na marinha durante 30 anos, onde esteve exposto a fibras de asbestos.Aparentemente estável até aos 62 anos, altura em que refere início de quadro clínico de dispneia de esforço, de agravamento progressivo. Um ano depois episódio de febre, tosse produtiva e mialgias.Ao exame objectivo eram evidentes hipocratismo digital e fervores subcrepitantes em ambas as bases, na auscultação torácica.Os aspectos vizualizados na TC Torácica eram compatíveis com Pneumonia Intersticial Usual e o lavado broncoalveolar excluiu outras doenças.O estudo da função respiratória mostrou um síndrome restritivo com diminuição da capacidade de difusão do CO.Foi administrada terapêutica com Deflazacort, acetilcisteína e azatioprina. Devido a agravamento clínico e funcional, azatioprina foi substituída por ciclofosfamida. Dois anos depois foi iniciada terapêutica com Interferão Gamma 1b, com melhoria clínica e funcional, durante um ano.Foi então feito o diagnóstico de Polimiosite e recebeu terapêutica com imunoglobulina.Doze meses depois foi internado com quadro clínico de febre intermitente, tosse seca, dispneia de esforço de agravamento progressivo e mialgias. A TC Torácica revelou pulmão em favo e bronquiectasias. No lobo inferior esquerdo foi detectado um nódulo periférico. O doente foi submetido a biópsia aspirativa transtorácica, o padrão imunohistoquímico do tecido revelou Cancro do Pulmão de Pequenas Células. No estadiamento foram identificadas adenopatias hilares e mediastínicas e múltiplas metástases hepáticas. Apenas foi efectuada uma administração de quimioterapia (carboplatinum e etoposido, sem qualquer tipo de resposta. O doente faleceu duas semanas depois.Está documentada a associação de Polimiosite com várias Neoplasias, neste caso clínico, o doente desenvolveu fibrose pulmonar antes de ter sido feito

  4. Development and preliminary validation of the Scleroderma Support Group Leader Self-efficacy Scale

    NARCIS (Netherlands)

    Pal, N.E.; Gumuchian, S.T.; Delisle, V.C.; Pé pin, M.; Malcarne, V.L.; Carrier, M.E.; Kwakkenbos, C.M.C.; Pelá ez, S.; El-Baalbaki, G.; Thombs, B.D.

    2018-01-01

    Support groups are an important resource for people living with systemic sclerosis (SSc; scleroderma). Peer support group leaders play an important role in the success and sustainability of SSc support groups, but face challenges that include a lack of formal training. An SSc support group leader

  5. Nailfold capillaroscopy in systemic sclerosis: data from the EULAR scleroderma trials and research (EUSTAR) database.

    Science.gov (United States)

    Ingegnoli, Francesca; Ardoino, Ilaria; Boracchi, Patrizia; Cutolo, Maurizio

    2013-09-01

    The aims of this study were to obtain cross-sectional data on capillaroscopy in an international multi-center cohort of Systemic Sclerosis (SSc) and to investigate the frequency of the capillaroscopic patterns and their disease-phenotype associations. Data collected between June 2004 and October 2011 in the EULAR Scleroderma Trials and Research (EUSTAR) registry were examined. Patients' profiles based on clinical and laboratory data were obtained by cluster analysis and the association between profiles and capillaroscopy was investigated by multinomial logistic regression. 62 of the 110 EUSTAR centers entered data on capillaroscopy in the EUSTAR database. 376 of the 2754 patients (13.65%) were classified as scleroderma pattern absent, but non-specific capillary abnormalities were noted in 55.48% of the cases. Four major patients' profiles were identified characterized by a progressive severity for skin involvement, as well as an increased number of systemic manifestations. The "early" and "active" scleroderma patterns were generally observed in patients with mild/moderate skin involvement and a low number of disease manifestations, while the "late" scleroderma pattern was found more frequently in the more severe forms of the disease. These data indicate the importance of capillaroscopy in SSc management and that capillaroscopic patterns are directly related to the extent of organ involvement. Copyright © 2013 Elsevier Inc. All rights reserved.

  6. Frequency of motor alterations detected through manometry in patients with esophageal symptoms and scleroderma.

    Science.gov (United States)

    Pérez Y López, N; Lugo-Zamudio, G; Barbosa-Cobos, R E; Wong-Lam, A; Torres-López, E

    Scleroderma can present with esophageal involvement causing important morbidity. To describe the manometric findings and clinical characteristics of patients with scleroderma and esophageal symptoms. Patients with scleroderma and esophageal symptoms were evaluated through esophageal manometry within the time frame of one year. Descriptive statistics were carried out and the continuous variables were expressed as means and standard deviation. Frequencies were expressed as percentages. The study included 24 female patients with a mean age of 53.5 years and mean disease progression of 7.84 years. The most frequent findings were short and hypotonic lower esophageal sphincter (mean length 1.58cm and mean tone 9.49mmHg) and ineffective esophageal motility (mean non-transmitted waves 92.91%, mean effective primary peristalsis 40.05%, and mean amplitude 13.11mmHg). The most frequent symptom was dysphagia. Scleroderma is associated with lower esophageal sphincter alterations and symptomatic ineffective esophageal motility. Copyright © 2017 Asociación Mexicana de Gastroenterología. Publicado por Masson Doyma México S.A. All rights reserved.

  7. Acute and regressive scleroderma concomitant to an acute CMV primary infection.

    Science.gov (United States)

    Goulabchand, Radjiv; Khellaf, Lakhdar; Forestier, Amandine; Costes, Valerie; Foulongne, Vincent; le Quellec, Alain; Guilpain, Philippe

    2014-12-01

    To describe the pathophysiological mechanisms involving cytomegalovirus (CMV) primary infection and natural killer (NK) cell expansion in the development of localized scleroderma. A 43-year-old woman presented acute erythematous discoloration and skin thickening concerning face, neck, trunk, abdomen, and the four limbs, predominantly in proximal areas. Our case did not respond to systemic sclerosis criteria diagnosis. However, skin and muscle biopsy revealed early scleroderma associated with capillary thrombi, and tissue infiltration with NK cells (CD56+/Granzyme B). Scleroderma was attributed to CMV primary infection responsible for cytolytic hepatitis (7-fold over the limit) and circulating NK cell excess. After 6 months of prednisone and a 2-year follow-up, a complete resolution of symptoms was observed. Our observation suggests a potential triggering role of CMV primary infection in the development of scleroderma. Histological features from our observation addresses the role of CMV and NK cells in the development of endothelial damage and fibrotic process. Copyright © 2014 Elsevier B.V. All rights reserved.

  8. Association of Immunological Cell Profiles with Specific Clinical Phenotypes of Scleroderma Disease

    Science.gov (United States)

    Calzada, David; Mayayo, Teodoro; González-Rodríguez, María Luisa; Rabasco, Antonio María; Lahoz, Carlos

    2014-01-01

    This study aimed to search the correlation among immunological profiles and clinical phenotypes of scleroderma in well-characterized groups of scleroderma patients, comparing forty-nine scleroderma patients stratified according to specific clinical phenotypes with forty-nine healthy controls. Five immunological cell subpopulations (B, CD4+ and CD8+ T-cells, NK, and monocytes) and their respective stages of apoptosis and activation were analyzed by flow cytometry, in samples of peripheral blood mononuclear cells (PBMCs). Analyses of results were stratified according to disease stage, time since the diagnosis, and visceral damage (pulmonary fibrosis, pulmonary hypertension, and cardiac affliction) and by time of treatment with corticosteroids. An increase in the percentages of monocytes and a decrease in the B cells were mainly related to the disease progression. A general apoptosis decrease was found in all phenotypes studied, except in localized scleroderma. An increase of B and NK cells activation was found in patients diagnosed more than 10 years ago. Specific cell populations like monocytes, NK, and B cells were associated with the type of affected organ. This study shows how, in a heterogeneous disease, proper patient's stratification according to clinical phenotypes allows finding specific cellular profiles. Our data may lead to improvements in the knowledge of prognosis factors and to aid in the analysis of future specific therapies. PMID:24818126

  9. Localized Scleroderma, Systemic Sclerosis and Cardiovascular Risk: A Danish Nationwide Cohort Study.

    Science.gov (United States)

    Hesselvig, Jeanette Halskou; Kofoed, Kristian; Wu, Jashin J; Dreyer, Lene; Gislason, Gunnar; Ahlehoff, Ole

    2018-03-13

    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, systemic sclerosis is a significant cardiovascular disease risk factor, while patients with localized scleroderma are not at increased risk of cardiovascular disease.

  10. U3 snoRNP associates with fibrillarin a component of the scleroderma clumpy nucleolar domain

    DEFF Research Database (Denmark)

    Herrera-Esparza, Rafael; Kruse, Lars; von Essen, Marina

    2002-01-01

    by ELISA was recognized by the clumpy scleroderma serum from the majority of patients. In situ hybridization assays showed that the fibrillarin tagged by the elicited antibodies was colocalized with U3 snoRNP in the nucleolus in a clumpy manner and coprecipitated the U3 snoRNP. In conclusion...

  11. Reduced coronary flow and resistance reserve in primary scleroderma myocardial disease

    International Nuclear Information System (INIS)

    Nitenberg, A.; Foult, J.M.; Kahan, A.; Perennec, J.; Devaux, J.Y.; Menkes, C.J.; Amor, B.

    1986-01-01

    The maximum coronary vasodilator capacity after intravenous dipyridamole (0.14 mg X kg-1 X min-1 X 4 minutes) was studied in seven patients with primary scleroderma myocardial disease and compared to that of seven control subjects. Hemodynamic data and left ventricular angiographic data were not different in the two groups. The coronary flow reserve was evaluated by the dipyridamole/basal coronary sinus blood flow ratio (D/B CSBF) and the coronary resistance reserve by the dipyridamole/basal coronary resistance ratio (D/B CR). Coronary reserve was greatly impaired in the group with primary scleroderma myocardial disease: D/B CSBF was lower than in the control group (2.54 +/- 1.37 vs 4.01 +/- 0.56, respectively; p less than 0.05) and D/B CR was higher than in the control group (0.47 +/- 0.25 vs 0.23 +/- 0.04, respectively; p less than 0.05). Such a decreased coronary flow and resistance reserve in patients with primary scleroderma myocardial disease was not explained by an alteration of left ventricular function. It may be an important contributing factor in the pathogenesis of primary scleroderma myocardial disease

  12. Use of mycophenolate mofetil in patients with severe localized scleroderma resistant or intolerant to methotrexate

    NARCIS (Netherlands)

    Mertens, Jorre S.; Marsman, Diane; van de Kerkhof, Peter C M; Hoppenreijs, Esther P A H; Knaapen, Hanneke K A; Radstake, Timothy R D; de Jong, Elke M G J; Seyger, Marieke M B

    2016-01-01

    To assess the efficacy and safety of mycophenolate mofetil (MMF) in patients with localized scleroderma (LoS) resistant or intolerant to previous treatment with methotrexate (MTX). A case series of patients with LoS treated with MMF. Outcome was assessed through clinical examination. Adverse events

  13. Parapiptadenia rigida MYCORRHIZATION WITH SPORES OF Scleroderma citrinum

    Directory of Open Access Journals (Sweden)

    Gerusa Pauli Kist Steffen

    2017-06-01

    Full Text Available Ectomycorrhizal fungal inoculation in forestry seedlings aids plant establishment and growth in the field. The objectives of this study were: to determine the mycorrhizal capacity of the ectomycorrhizal fungus Scleroderma citrinum in Parapiptadenia rigida (red angico seedlings and to evaluate the viability of a mycorrhizal inoculation technique for forest seedlings involving the use of spores. Mature spores were inoculated in the substrate (75% soil and 25% carbonized rice husk, totaling 1.5 grams of fungal spores per liter of substrate. P. rigida seeds were sown in substrates inoculated or not inoculated with fungal spores in presence or absence of Pinus echinata and Eucalyptus citriodora essential oil: not inoculated (T1, inoculated (T2, inoculated more pine essential oil (T3, inoculated more eucalyptus essential oil (T4. Seedlings of Pinus elliottii were used for a positive control of mycorrhizal inoculation (T5 and not inoculated (T6 with fungal spores. At 90 days after sowing, the base stem diameter, height, fresh and dry weight of shoots and roots, percentage of root colonization and Dickson Index were determined. The presence of fungal structures in P. rigida and P. elliottii roots inoculated with S. citrinum spores was observed, demonstrating the occurrence of an ectomycorrhizal association. The application of pine and eucalyptus essential oils in the substrate increased the percentage of ectomycorrhizal colonization in P. rigida seedlings. The addition of S. citrinum mature spores in the substrate used for seedling production is a viable practice for ectomycorrhizal inoculation and it can be used in forest nurseries in controlled mycorrhization programs.

  14. Peripheral blood cytokine and chemokine profiles in juvenile localized scleroderma

    Science.gov (United States)

    Torok, Kathryn S.; Kurzinski, Katherine; Kelsey, Christina; Yabes, Jonathan; Magee, Kelsey; Vallejo, Abbe N.; Medsger, Thomas; Feghali-Bostwick, Carol A.

    2015-01-01

    Objective To evaluate peripheral blood T-helper (TH) cell associated cytokine and chemokine profiles in localized scleroderma (LS), and correlate them with clinical disease features, including disease activity parameters. Methods A 29-plex Luminex platform was used to analyze the humoral profile of plasma samples from 69 pediatric LS patients and 71 healthy pediatric controls. Cytokine/chemokine levels were compared between these two groups and within LS patients, focusing on validated clinical outcome measures of disease activity and damage in LS. Results Plasma levels of IP-10, MCP-1, IL-17a, IL-12p70, GM-CSF, PDGF-bb, IFN-α2, and IFN-γ were significantly higher in LS compared to healthy controls. Analysis within the LS group demonstrated IP-10, TNF-α and GM-CSF correlated with clinical measures of disease activity. Several cytokines/chemokines correlated with anti-histone antibody, while only a few correlated with positive ANA and single-stranded DNA antibody. Conclusion This is the first time that multiple cytokines and chemokines have been examined simultaneously LS. In general, a TH-1 (IFN-γ) and TH-17 (IL-17a) predominance was demonstrated in LS compared to healthy controls. There is also an IFN–γ signature with elevated IP-10, MCP-1 and IFN-γ, which has been previously demonstrated in systemic sclerosis, suggesting a shared pathophysiology. Within the LS patients, those with active disease demonstrated IP-10, TNF-α and GM-CSF, which may potentially serve as biomarkers of disease activity in the clinical setting. PMID:26254121

  15. Development of Consensus Treatment Plans for Juvenile Localized Scleroderma

    Science.gov (United States)

    Li, Suzanne C.; Torok, Kathryn S.; Pope, Elena; Dedeoglu, Fatma; Hong, Sandy; Jacobe, Heidi T.; Rabinovich, C. Egla; Laxer, Ronald M.; Higgins, Gloria C.; Ferguson, Polly J.; Lasky, Andrew; Baszis, Kevin; Becker, Mara; Campillo, Sarah; Cartwright, Victoria; Cidon, Michael; Inman, Christi J; Jerath, Rita; O'Neil, Kathleen M.; Vora, Sheetal; Zeft, Andrew; Wallace, Carol A.; Ilowite, Norman T.; Fuhlbrigge, Robert C

    2013-01-01

    Objective To develop standardized treatment plans, clinical assessments, and response criteria for active, moderate to high severity juvenile localized scleroderma (jLS). Background jLS is a chronic inflammatory skin disorder associated with substantial morbidity and disability. Although a wide range of therapeutic strategies have been reported in the literature, a lack of agreement on treatment specifics and accepted methods for clinical assessment of have made it difficult to compare approaches and identify optimal therapy. Methods A core group of pediatric rheumatologists, dermatologists and a lay advisor was engaged by the Childhood Arthritis and Rheumatology Research Alliance (CARRA) to develop standardized treatment plans and assessment parameters for jLS using consensus methods/nominal group techniques. Recommendations were validated in two face-to-face conferences with a larger group of practitioners with expertise in jLS and with the full membership of CARRA, which encompasses the majority of pediatric rheumatologists in the U.S and Canada. Results Consensus was achieved on standardized treatment plans that reflect the prevailing treatment practices of CARRA members. Standardized clinical assessment methods and provisional treatment response criteria were also developed. Greater than 90% of pediatric rheumatologists responding to a survey (67% of CARRA membership) affirmed the final recommendations and agreed to utilize these consensus plans to treat patients with jLS. Conclusions Using consensus methodology, we have developed standardized treatment plans and assessment methods for jLS. The high level of support among pediatric rheumatologists will support future comparative effectiveness studies and enable the development of evidence-based guidelines for the treatment of jLS. PMID:22505322

  16. Fox-2 protein regulates the alternative splicing of scleroderma-associated lysyl hydroxylase 2 messenger RNA.

    Science.gov (United States)

    Seth, Puneet; Yeowell, Heather N

    2010-04-01

    Scleroderma (systemic sclerosis [SSc]) is a complex connective tissue disorder characterized by hardening and thickening of the skin. One hallmark of scleroderma is excessive accumulation of collagen accompanied by increased levels of pyridinoline collagen crosslinks derived from hydroxylysine residues in the collagen telopeptide domains. Lysyl hydroxylase 2 (LH2), an important alternatively spliced enzyme in collagen biosynthesis, acts as a collagen telopeptide hydroxylase. Changes in the pattern of LH2 alternative splicing, favoring increased inclusion of the alternatively spliced LH2 exon 13A, thereby increasing the levels of the long transcript of LH2 (LH2[long]), are linked to scleroderma disease. This study was undertaken to examine the role played by RNA binding protein Fox-2 in regulating exon 13A inclusion, which leads to the generation of scleroderma-associated LH2(long) messenger RNA (mRNA). Phylogenetic sequence analysis of introns flanking exon 13A was performed. A tetracycline-inducible system in T-Rex 293 cells was used to induce Fox-2 protein, and endogenous LH2(long) mRNA was determined by reverse transcriptase-polymerase chain reaction. An LH2 minigene was designed, validated, and used in Fox-2 overexpression and mutagenesis experiments. Knockdown of Fox-2 was performed in mouse embryonic fibroblasts and in fibroblasts from SSc patients. Overexpression of Fox-2 enhanced the inclusion of exon 13A and increased the generation of LH2(long) mRNA, whereas knockdown of Fox-2 decreased LH2(long) transcripts. Mutational analysis of an LH2 minigene demonstrated that 2 of the 4 Fox binding motifs flanking LH2 exon 13A are required for inclusion of exon 13A. In early passage fibroblasts derived from patients with scleroderma, the knockdown of Fox-2 protein significantly decreased the endogenous levels of LH2(long) mRNA. Our findings indicate that Fox-2 plays an integral role in the regulation of LH2 splicing. Knockdown of Fox-2 and other methods to decrease

  17. Pigmentation abnormalities in systemic scleroderma examined by using a colorimeter (Choromo Meter CR-200).

    Science.gov (United States)

    Maeda, M; Kachi, H; Matubara, K; Mori, S; Kitajima, Y

    1996-03-01

    Cutaneous colors of the dorsum of the hands (A), the distal forearms (B; 5 cm from the wrists), the proximal forearm (C; proximal 1/3 from the elbow) and sternal skin region (D) in patients with systemic scleroderma (73 cases; M:F = 16:57) systemic lupus erythematosus (SLE) or dermatomyositis (27 cases; M:F = 7:20) and healthy controls (HC) (36 cases; M:F = 8:28) was characterized by a XYZ colorimetric system (CIE, 1931) using a colorimeter (Choromo Meter CR-200, Minolta Camera Co. Ltd., Osaka). The index Y, which means color value shows a lower value in male HC and in patients with systemic scleroderma, especially in the more severe type with hyperpigmentation (score 5-6; the system proposed by Ishikawa) than that of female HC. The values of indices x and y, which relate to reddish (erythema with hyperpigmentation) and greenish color (pale), respectively, were higher in the exposed portion of the severe type of systemic scleroderma with hyperpigmentation, especially male and older patients, and in unexposed portions of the female group without hyperpigmentation. Histopathologically, there was prominent pigmentation in the upper dermis of the forearm in the severe type of systemic scleroderma, so that melanin quantity may be closely related to the decrease in index Y. There was no statistical significance in the value of indices Y, x and y between HC, SLE and dermatomyositis. This method may contribute not only to diagnosis of systemic scleroderma and differentiation from other collagen diseases, but also studies of clinical follow-up and effects of medication.

  18. Pirfenidone gel in patients with localized scleroderma: a phase II study.

    Science.gov (United States)

    Rodríguez-Castellanos, Marco; Tlacuilo-Parra, Alberto; Sánchez-Enríquez, Sergio; Vélez-Gómez, Ezequiel; Guevara-Gutiérrez, Elizabeth

    2015-01-28

    Localized scleroderma is an inflammatory disease in its first stages and a fibrotic process in later stages, principally mediated by the transforming growth factor β. To date, there is no standard treatment. The objective of this study was to determine the effectiveness and safety of 8% pirfenidone gel in patients with localized scleroderma. This was an open phase II clinical trial that included 12 patients. Treatment with pirfenidone was indicated, three times daily for 6 months. Patients were evaluated clinically with the modified Localized Scleroderma Skin Severity Index (mLoSSI), as well with a durometer and histologically using hematoxylin and eosin stain and Masson's trichrome stain. The baseline mLoSSI average scores were 5.83 ± 4.80 vs. 0.83 ± 1.75 (P = 0.002) at 6 months. The initial durometer induration of the scleroderma plaques was 35.79 ± 9.10 vs. 32.47 ± 8.97 at 6 months (P = 0.05). We observed histopathological improvement with respect to epidermal atrophy, inflammation, dermal or adipose tissue fibrosis and annex atrophy from 12.25 ± 3.25 to 9.75 ± 4.35 (P = 0.032). The 8% pirfenidone gel application was well tolerated, and no side effects were detected. This is the first study on the therapeutic use of pirfenidone gel in localized scleroderma. It acts on both the inflammatory and the fibrotic phases. Considering its effectiveness, good safety profile and the advantage of topical application, pirfenidone is a treatment option in this condition.

  19. [Localized Scleroderma of Lower Extremities:Clinical and Magnetic Resonance Imaging Features].

    Science.gov (United States)

    Wang, Feng-dan; Wang, Hong-wei; Wu, Zhi-hong; Hou, Bo; Jiang, Bo; Zhang, Yan; Feng, Feng; Jin, Zheng-yu; Yuan, Xie

    2015-08-01

    To evaluate the clinical and musculoskeletal characteristics of localized scleroderma with lower extremities affected. All the localized scleroderma patients,who received magnetic resonance (MR ) examinations of affected lower extremities at Peking Union Medical College Hospital from April 2013 to June 2014,were retrospectively reviewed. Their clinical data and laboratory results of antinuclear antibody,anti-double stranded-DNA antibody, and anti-extractable nuclear antigen antibody were collected and analyzed. All the MR examinations were non-contrast imaging using Siemens Skyra 3.0T MR scanner. There were 16 localized scleroderma patients with lower extremities affected, 11 of whom were linear scleroderma, 4 generalized morphea, and 1 deep morphea. Female to male ratio was 1:2.2. The mean age was 22.5 years. The mean time span was 7.4 years. Four of the 14 patients (28.6%) who received antinuclear antibody test were positive. All the 10 patients who received anti-double stranded-DNA antibody test and the 7 patients who received anti-extractable nuclear antigen antibody test were negative. The most common musculoskeletal MR features were subcutaneous septal thickening (16/16) and fascial thickening (11/16). The thickened speta and fascia could either be hypointenstiy or hyperintensity on turbo inversion recovery magnitude/proton density weighted imaging. Other MR manifestations were intramuscular speta thickening (3/16), muscular abnormal signals (1/16), and bone marrow abnormal signals (2/16). Musculoskeletal manifestations of the lower extremities with localized scleroderma can be well revealed using MR imaging.

  20. Two different trichoscopic patterns of mid-frontal scalp in patients with frontal fibrosing alopecia and clinical features of androgenetic alopecia

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    Adriana Rakowska

    2017-03-01

    Full Text Available Introduction . Frontal fibrosing alopecia is a primary lymphocytic cicatricial alopecia with progressive frontotemporal hairline recession. In some cases, hair loss in the mid-frontal scalp, similar to female pattern hair loss, may be observed. Objective. Assessment of the trichoscopic pattern of mid-frontal scalp hair loss in patients diagnosed with frontal fibrosing alopecia. Material and methods. The retrospective analysis included 31 women diagnosed with frontal fibrosing alopecia and hair loss in the mid-frontal scalp and 36 women diagnosed with female pattern hair loss. Results . In patients with frontal fibrosing alopecia two different trichoscopic patterns in the mid-frontal scalp were identified. In 68% of patients (21/31 we observed a diffuse fibrotic pattern. It was characterized by irregular arrangement of follicular units with small areas with loss of follicular units, an increased percentage of follicular units with one hair and a decreased percentage of follicular units with three hairs, normal hair shaft thickness and presence of mild perifollicular scaling. The androgenetic alopecia pattern was present in 32% of patients (10/31. It was characterized by hair shaft thickness diversity (20% or more, a percentage of vellus hairs higher than 10%, presence of yellow dots, an increased percentage of follicular units with one hair and a decreased percentage of follicular units with three hairs. Conclusions. In patients with frontal fibrosing alopecia and coexisting mid-frontal scalp hair loss, we identified two different patterns of this area in trichoscopy: the diffuse fibrotic pattern (more common and the androgenetic alopecia pattern. This observation may have therapeutic and prognostic implications.

  1. Development of consensus treatment plans for juvenile localized scleroderma: a roadmap toward comparative effectiveness studies in juvenile localized scleroderma.

    Science.gov (United States)

    Li, Suzanne C; Torok, Kathryn S; Pope, Elena; Dedeoglu, Fatma; Hong, Sandy; Jacobe, Heidi T; Rabinovich, C Egla; Laxer, Ronald M; Higgins, Gloria C; Ferguson, Polly J; Lasky, Andrew; Baszis, Kevin; Becker, Mara; Campillo, Sarah; Cartwright, Victoria; Cidon, Michael; Inman, Christi J; Jerath, Rita; O'Neil, Kathleen M; Vora, Sheetal; Zeft, Andrew; Wallace, Carol A; Ilowite, Norman T; Fuhlbrigge, Robert C

    2012-08-01

    Juvenile localized scleroderma (LS) is a chronic inflammatory skin disorder associated with substantial morbidity and disability. Although a wide range of therapeutic strategies has been reported in the literature, a lack of agreement on treatment specifics and accepted methods for clinical assessment has made it difficult to compare approaches and identify optimal therapy. Our objective was to develop standardized treatment plans, clinical assessments, and response criteria for active, moderate to high severity juvenile LS. A core group of pediatric rheumatologists, dermatologists, and a lay advisor was engaged by the Childhood Arthritis and Rheumatology Research Alliance (CARRA) to develop standardized treatment plans and assessment parameters for juvenile LS using consensus methods/nominal group techniques. Recommendations were validated in 2 face-to-face conferences with a larger group of practitioners with expertise in juvenile LS and with the full membership of CARRA, which encompasses the majority of pediatric rheumatologists in the US and Canada. Consensus was achieved on standardized treatment plans that reflect the prevailing treatment practices of CARRA members. Standardized clinical assessment methods and provisional treatment response criteria were also developed. Greater than 90% of pediatric rheumatologists responding to a survey (66% of CARRA membership) affirmed the final recommendations and agreed to utilize these consensus plans to treat patients with juvenile LS. Using consensus methodology, we have developed standardized treatment plans and assessment methods for juvenile LS. The high level of support among pediatric rheumatologists will support future comparative effectiveness studies and enable the development of evidence-based guidelines for the treatment of juvenile LS. Copyright © 2012 by the American College of Rheumatology.

  2. Autoanticorpos em esclerodermia e sua associação ao perfil clínico da doença: estudo em 66 pacientes do sul do Brasil Autoantibodies in scleroderma and their association with the clinical profile of the disease: a study of 66 patients from southern Brazil

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    Thelma Larocca Skare

    2011-12-01

    Full Text Available FUNDAMENTOS: A esclerodermia é uma colagenose relativamente rara, cujo perfil de autoanticorpos está associado a diferentes manifestações clínicas. A prevalência de autoanticorpos na esclerodermia sofre influência racial e genética. OBJETIVO: Estudar a prevalência dos anticorpos anti-Scl-70, anticentrômero e anti-U1-RNP em pacientes com esclerodermia do sul do Brasil e verificar suas associações às manifestações clínicas. MÉTODOS: Estudo retrospectivo de análise de 66 pacientes com esclerodermia para presença de anti-Scl-70, anticentrômero (ACA e anti-U1-RNP e de manifestações clínicas como: Raynaud, cicatrizes estelares, necrose digital, telangiectasias, calcinose, fibrose pulmonar, pleurites, pericardites, miocardiopatias, artralgias e artrites, grau de esclerose da pele, contraturas articulares e atritos de tendão, hipertensão pulmonar, manifestações esofágicas e crise renal. RESULTADOS: A prevalência do anti-Scl-70 foi de 17,8%, a do ACA, de 33,3%, e a do U1 RNP foi de 11,8 %. O anti-Scl-70 estava associado à forma difusa da doença (p=0,015, presença de miocardiopatias (p=0,016 e de cicatrizes estelares (p=0,05; o anticentrômero foi mais comum na forma limitada, embora sem significância estatística e mostrou-se protetor para as miocardiopatias (p=0,005. O anti-U1-RNP foi mais comum nas formas de superposição (p=0,0004. CONCLUSÃO: A prevalência e o perfil de associações clínicas dos autoanticorpos em esclerodermia de pacientes brasileiros assemelham-se aos da literatura mundial.BACKGROUND: Scleroderma is a fairly rare connective tissue disease whose autoantibody profile is associated with different clinical manifestations. The prevalence of autoantibodies in scleroderma is influenced by race and genetics. OBJECTIVE: To study the prevalence of anti-Scl-70, anti-centromere (ACA and anti-U1-RNP antibodies in patients with scleroderma in southern Brazil and verify their association with clinical

  3. Fibrose quística em adultos Cystic fibrosis in adults

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    C Damas

    2007-05-01

    Full Text Available Os autores efectuaram uma revisão de doentes adultos com fibrose quística (FQ, seguidos na consulta de Pneumologia no período de 1994-2004 (n=8: cinco mulheres e três homens, com idades compreendidas entre 20 e 34 anos (mediana = 27 anos, cuja idade de diagnóstico variou entre os 18 meses e os 31 anos. O diagnóstico foi obtido por prova de suor (positiva em seis doentes e estudo genético (homozigotia para a mutação ÄF508 em quatro doentes. O atingimento respiratório traduziu-se por sinusite e bronquiectasias, acompanhando-se o envolvimento pulmonar por alterações funcionais e também gasométricas na maioria dos doentes, ainda que de gravidade variável e não relacionada com a idade de diagnóstico. Verificou-se colonização da árvore brônquica em cinco doentes: Pseudomonas aeruginosa em quatro e Staphilococcus aureus em quatro (verificando-se colonização concomitante por estes agentes em três. As principais causas de exacerbação foram infecções respiratórias e hemoptises. Quanto ao atingimento não respiratório, quatro doentes apresentavam envolvimento digestivo (com cirrose hepática num caso, um insuficiência renal em hemodiálise, e em apenas um foi efectuado espermograma para documentação de infertilidade. Quatro doentes tinham osteopenia documentada por densitometria óssea. As medidas terapêuticas mais utilizadas foram a cinesiterapia, os broncodilatadores, a alfa-dornase, mucolíticos, suplementos vitamínicos e enzimáticos, antibioterapia e oxigenoterapia. Relativamente à evolução, uma doente abandonou a consulta, uma doente faleceu, um doente aguardava transplante pulmonar e os restantes mantiveram as suas características clínicas habituais. Neste grupo, a gravidade da doença pulmonar não se relacionou com o diagnóstico mais tardio, o que se pode dever à diversidade de apresentação fenotípica da FQ na idade adulta.The authors reviewed adult cystic fibrosis patients followed in the Pulmonology

  4. Estado nutricional em pacientes atendidos por um programa de adultos para fibrose cística

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    Bruna Ziegler

    2008-02-01

    Full Text Available Introdução: Na fibrose cística (FC, o estado nutricional está associado com o crescimento, função pulmonar e índices de so-brevida. Objetivo: Avaliar o estado nutricional em adultos com FC e correlacionar com escore clínico, escore radiológico, pressões respiratórias estáticas máximas, capacidade submáxima de exercício e função pulmonar. Metodologia: O estudo realizado foi transver-sal e prospectivo, em pacientes (16 anos ou mais, atendidos em um programa para adultos com FC. Os pacientes foram submetidos a uma avaliação nutricional e clínica, ao teste de caminhada de seis minutos (TC6, à medida das pressões respiratórias máximas, a espirometria e exame radiológico do tórax. Resultados: O estudo incluiu 41 pacientes com media de idade de 23,7 ± 6,5 anos e média de índice de massa corporal (IMC de 20,2 ± 2,2 Kg/m2. Vinte e seis pacientes (63,4% foram classificados como bem nutridos (IMC = 21,7 ± 2,0 Kg/m2, 6 (14,6% como risco nutricional (IMC = 19,4 ± 0,5 Kg/m2 e 9 (22% como desnutridos (IMC = 17,6 ± 0,8 Kg/m2. Não houve correlação significativa entre IMC e a idade (r = 0,24; P = 0,13, idade do diagnóstico (r = -0,04; P = 0,81, escore clínico (r = 0,13; P = 0,40 e radiográfico (r = -0,22; P = 0,17, distância percorrida no TC6 (r = 0,20; P = 0,20, VEF1 % (r = 0,11; P = 0,50 e CVF % (r = 0,06; P = 0,72. Também não houve associação entre o declínio do estado nutricional e essas variáveis. Conclusão: Este estudo mos-trou que a maioria dos pacientes com FC (16 anos ou mais tem um adequado estado nutricional (63,4%, mas uma porcentagem signi-ficante (36,6% tem depleção nutricional. Não houve associação entre o estado nutricional e a função pulmonar, pressões respiratórias máximas, escore clínico e radiográfico e a capacidade submáxima de exercício.

  5. Uterine prolapse with endometrial eversion in association with an unusual diffuse, polypoid, fibrosing perimetritis and parametritis in a cat.

    Science.gov (United States)

    Valentine, Matthew J; Porter, Susan; Chapwanya, Aspinas; Callanan, John J

    2016-01-01

    This case describes a young non-pregnant cat that presented with uterine prolapse in association with an unusual diffuse, polypoid, fibrosing perimetritis and parametritis. Following ovariohysterectomy the cat recovered fully. No intra-abdominal complications were seen on ultrasound examination 3 months postsurgery. At the time of writing, the cat remains healthy. Uterine prolapse in the cat is relatively rare and usually associated with the periparturient period. Inflammatory polypoid perimetritis and parametritis have not previously been documented in cats, and in dogs have only been reported in association with the administration of oestrogenic compounds. The polypoid inflammation affecting the uterus and parametrium may have contributed to increased laxity of the uterine ligaments and predisposed to the development of uterine prolapse.

  6. Recurrent Pneumonia due to Fibrosing Mediastinitis in a Teenage Girl: A Case Report with Long-Term Follow-Up

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    Avigdor Hevroni

    2018-01-01

    Full Text Available A teenage girl was evaluated for recurrent right pneumonia. The evaluation revealed a calcified mediastinal mass that compressed the right intermediate and middle lobar bronchi, as well as the right pulmonary artery and veins. The clinical picture together with imaging studies and borderline positive serology testing suggested a diagnosis of fibrosing mediastinitis associated with histoplasmosis. This rare condition is characterized by the local proliferation of invasive fibrous tissue within the mediastinum due to a hyperimmune reaction to Histoplasma capsulatum. Antifungal and anti-inflammatory therapies are usually ineffective, and surgical intervention contains a high morbidity risk. Palliative surgery and stenting of the compressed airway have been suggested. In the past, the prognosis was thought to be poor, but recent studies demonstrate a more positive outcome. Our patient had been radiologically and functionally stable under follow-up for over thirteen years and has married and delivered two healthy children, both following an uneventful pregnancy.

  7. Occupational and environmental scleroderma. Systematic review and meta-analysis.

    Science.gov (United States)

    Rubio-Rivas, Manuel; Moreno, Rafael; Corbella, Xavier

    2017-03-01

    The etiology of systemic sclerosis (SSc) remains unknown; however, several occupational and environmental factors have been implicated. Our objective was to perform a meta-analysis of all studies published on SSc associated with occupational and environmental exposure. The review was undertaken by means of MEDLINE and SCOPUS from 1960 to 2014 and using the terms: "systemic," "scleroderma," or "systemic sclerosis/chemically induced" [MesH]. The Newcastle-Ottawa Scale was used for the qualifying assessment. The inverse variance-weighted method was performed. The meta-analysis of silica exposure included 15 case-control studies [overall OR 2.81 (95%CI 1.86-4.23; p < 0.001)] and 4 cohort studies [overall RR 17.52 (95%CI 5.98-51.37; p < 0.001)]; the meta-analysis of solvents exposure included 13 case-control studies (overall OR 2.00 [95%CI 1.32-3.02; p = 0.001); the meta-analysis of breast implants exposure included 4 case-control studies (overall OR 1.68 (95%CI 1.65-1.71; p < 0.001)) and 6 cohort studies (overall RR 2.13 (95%CI 0.86-5.27; p = 0.10)); the meta-analysis of epoxy resins exposure included 4 case-control studies (overall OR 2.97 (95%CI 2.31-3.83; p < 0.001)), the meta-analysis of pesticides exposure included 3 case-control studies (overall OR 1.02 (95%CI 0.78-1.32; p = 0.90)) and, finally, the meta-analysis of welding fumes exposure included 4 studies (overall OR 1.29 (95%CI 0.44-3.74; p = 0.64)). Not enough studies citing risks related to hair dyes have been published to perform an accurate meta-analysis. Silica and solvents were the two most likely substances related to the pathogenesis of SSc. While silica is involved in particular jobs, solvents are widespread and more people are at risk of having incidental contact with them.

  8. Comparing HLA shared epitopes in French Caucasian patients with scleroderma.

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    Doua F Azzouz

    Full Text Available Although many studies have analyzed HLA allele frequencies in several ethnic groups in patients with scleroderma (SSc, none has been done in French Caucasian patients and none has evaluated which one of the common amino acid sequences, (67FLEDR(71, shared by HLA-DRB susceptibility alleles, or (71TRAELDT(77, shared by HLA-DQB1 susceptibility alleles in SSc, was the most important to develop the disease. HLA-DRB and DQB typing was performed for a total of 468 healthy controls and 282 patients with SSc allowing FLEDR and TRAELDT analyses. Results were stratified according to patient's clinical subtypes and autoantibody status. Moreover, standardized HLA-DRß1 and DRß5 reverse transcriptase Taqman PCR assays were developed to quantify ß1 and ß5 mRNA in 20 subjects with HLA-DRB1*15 and/or DRB1*11 haplotypes. FLEDR motif is highly associated with diffuse SSc (χ(2 = 28.4, p<10-6 and with anti-topoisomerase antibody (ATA production (χ(2 = 43.9, p<10-9 whereas TRAELDT association is weaker in both subgroups (χ(2 = 7.2, p = 0.027 and χ(2 = 14.6, p = 0.0007 respectively. Moreover, FLEDR motif- association among patients with diffuse SSc remains significant only in ATA subgroup. The risk to develop ATA positive SSc is higher with double dose FLEDR than single dose with respectively, adjusted standardised residuals of 5.1 and 2.6. The increase in FLEDR motif is mostly due to the higher frequency of HLA-DRB1*11 and DRB1*15 haplotypes. Furthermore, FLEDR is always carried by the most abundantly expressed ß chain: ß1 in HLA DRB1*11 haplotypes and ß5 in HLA-DRB1*15 haplotypes.In French Caucasian patients with SSc, FLEDR is the main presenting motif influencing ATA production in dcSSc. These results open a new field of potential therapeutic applications to interact with the FLEDR peptide binding groove and prevent ATA production, a hallmark of severity in SSc.

  9. Hypersensitivity pneumonitis (extrinsic allergic alveolitis): high-resolution computed tomography findings; Pneumonite por hipersensibilidade (alveolite alergica extrinseca): achados na tomografia computadorizada de alta resolucao

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    Almeida Junior, Jose Guiomar de; Marchiori, Edson [Universidade Federal Fluminense, Niteroi, RJ (Brazil). Faculdade de Ciencias Medicas. Dept. de Radiologia]. E-mail: edmarchiori@zipmail.com.br; Escuissato, Dante L. [Parana Univ., Curitiba, PR (Brazil). Dept. de Radiologia; Souza Junior, Arthur Soares [Faculdade de Medicina de Sao Jose do Rio Preto (FAMERP), SP (Brazil). Dept. de Radiologia; Gasparetto, Emerson L. [Parana Univ., Curitiba, PR (Brazil). Hospital de Clinicas; Nobre, Luiz Felipe [Santa Catarina Univ., Florianopolis, SC (Brazil); Irion, Klaus L. [Santa Casa de Misericordia de Porto Alegre, RS (Brazil). Pavilhao Pereira Filho. Servico de Radiologia

    2003-12-01

    Hypersensitivity pneumonitis, or extrinsic allergic alveolitis, is an immunologic disease of the lungs caused by inhaled chemicals or organics allergens. A lymphocytic inflammatory response in the peripheral airways and surrounding interstitial tissue occurs. In this study the high-resolution computed tomography findings of 13 patients with hypersensitivity pneumonitis were analyzed and discussed. The most frequent high-resolution computed tomography findings were: ground-glass opacities (92.3%), centrilobular nodules (38.4%) and air trapping (38.4%). Other findings included bronchiectasis (23.1%), consolidation (23.1%), crazy paving (7.7%), parenchymal bands (15.4%), linear opacities (7.7%), architectural distortion (7.7%), tracheal dilatation (7.7%), intralobular reticulate (7.7%), honeycombing (7.7%), emphysema (7.7%) and atelectasis (7.7%). In two of the 13 patients there was fibrosis (architectural distortion and honeycombing), which represents the chronic phase of the disease. (author)

  10. Peculiarities of changes in indices of immunological reactivity in experimental allergic alveolitis under adrenalin myocardial injury and their correction with thiotriazoline

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    Volodymyr Pyndus

    2015-10-01

      Abstract Allergic diseases cover more than 20% of people living on the earth, among who exogenous allergic alveolitis (AA occupies a prominent place. However, the frequency of this disease increases and there is a number of complications with not only medical but also socio-economic values. Today the question remains to be not studied that concerns changes of selected indicators of clinical and humoral immunity in the blood for experimental allergic alveoli (EAA and adrenaline myocardial injury (AMI and the possibility of their correction with antioxidants. The goal of study was to elucidate peculiarities of changes of immunological reactivity in the EAA in terms of AMI and set the effect of  thiotriazoline on them. The study of individual markers of cellular and humoral immunity showed a malfunction of the immune system in the formation of EAA and AMI and set monocristalline the effect of thiotriazolin on the level of T and B-lymphocytes and  CIC in blood.   Key words: experimental allergic alveolitis, adrenaline myocardial injury, thiotriazolin. Ключові слова: експериментальний алергічний альвеоліт, адреналінове пошкодження міокарда, тіотриазолін.

  11. Scleroderma renal crisis in a case of mixed connective tissue disease

    Directory of Open Access Journals (Sweden)

    Mukul Vij

    2014-01-01

    Full Text Available Mixed connective tissue disease (MCTD is an overlap syndrome first defined in 1972 by Sharp et al. In this original study, the portrait emerged of a connective tissue disorder sharing features of systemic lupus erythematosus, systemic sclerosis (scleroderma and polymyositis. Scleroderma renal crisis (SRC is an extremely infrequent but serious complication that can occur in MCTD. The histologic picture of SRC is that of a thrombotic micro-angiopathic process. Renal biopsy plays an important role in confirming the clinical diagnosis, excluding overlapping/superimposed diseases that might lead to acute renal failure in MCTD patients, helping to predict the clinical outcome and optimizing patient management. We herewith report a rare case of SRC in a patient with MCTD and review the relevant literature.

  12. Scleroderma renal crisis in a case of mixed connective tissue disease.

    Science.gov (United States)

    Vij, Mukul; Agrawal, Vinita; Jain, Manoj

    2014-07-01

    Mixed connective tissue disease (MCTD) is an overlap syndrome first defined in 1972 by Sharp et al. In this original study, the portrait emerged of a connective tissue disorder sharing features of systemic lupus erythematosus, systemic sclerosis (scleroderma) and polymyositis. Scleroderma renal crisis (SRC) is an extremely infrequent but serious complication that can occur in MCTD. The histologic picture of SRC is that of a thrombotic micro-angiopathic process. Renal biopsy plays an important role in confirming the clinical diagnosis, excluding overlapping/superimposed diseases that might lead to acute renal failure in MCTD patients, helping to predict the clinical outcome and optimizing patient management. We herewith report a rare case of SRC in a patient with MCTD and review the relevant literature.

  13. Atypical Neuroimaging Manifestations of Linear Scleroderma “en coup de sabre”

    Science.gov (United States)

    M. ALLMENDINGER, Andrew; A. RICCI, Joseph; S. DESAI, Naman; VISWANADHAN, Narayan; RODRIGUEZ, Diana

    2015-01-01

    Linear scleroderma “en coup de sabre” is a subset of localized scleroderma with band-like sclerotic lesions typically involving the fronto-parietal regions of the scalp. Patients often present with neurologic symptoms. On imaging, patients may have lesions in the cerebrum ipsilateral to the scalp abnormality. Infratentorial lesions and other lesions not closely associated with the overlying scalp abnormality, such as those found in the cerebellum, have been reported, but are extremely uncommon. We present a case of an 8-year-old boy with a left fronto-parietal “en coup de sabre” scalp lesion and describe the neuroimaging findings of a progressively enlarging left cerebellar lesion discovered incidentally on routine magnetic resonance imaging. Interestingly, the patient had no neurologic symptoms given the size of the mass identified. PMID:26401155

  14. 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.

  15. Netrin-1 regulates fibrocyte accumulation in the decellularized fibrotic scleroderma lung microenvironment and in bleomycin induced pulmonary fibrosis

    Science.gov (United States)

    Sun, Huanxing; Zhu, Yangyang; Pan, Hongyi; Chen, Xiaosong; Balestrini, Jenna L.; Lam, TuKiet T.; Kanyo, Jean E.; Eichmann, Anne; Gulati, Mridu; Fares, Wassim H.; Bai, Hanwen; Feghali-Bostwick, Carol A.; Gan, Ye; Peng, Xueyan; Moore, Meagan W.; White, Eric S.; Sava, Parid; Gonzalez, Anjelica L.; Cheng, Yuwei; Niklason, Laura E.; Herzog, Erica L.

    2017-01-01

    Objectives Fibrocytes are collagen-producing leukocytes that accumulate in Scleroderma-associated interstitial lung disease (SSc-ILD) via unknown mechanisms. The extracellular matrix (ECM) influences cellular phenotypes. However, a relationship between the lung ECM and fibrocytes in Scleroderma has not been explored. This study uses a novel translational platform based on decellularized human lungs to determine whether the scleroderma lung ECM controls fibrocyte development from peripheral blood mononuclear cells. Methods Decellularized scaffolds prepared from healthy and fibrotic Scleroderma lung explants underwent biomechanical evaluation using tensile testing and biochemical analysis using proteomics. Cells from healthy and SSc-ILD subjects were cultured on these scaffolds, and CD45+Pro-ColIα1+ cells meeting criteria for fibrocytes were quantified. The contribution of Netrin-1 to fibrosis was assessed using neutralizing antibodies in this system and via the inhalational administration of bleomycin to Netrin-1+/− mice. Results Compared to control lung scaffold, SSc-ILD lung scaffolds showed aberrant anatomy, enhanced stiffness, and abnormal extracellular matrix composition. Culture of control cells in Scleroderma scaffolds increased Pro-ColIα1+ production, which was stimulated by enhanced stiffness and abnormal ECM composition. SSc-ILD cells demonstrated increased Pro-ColIα1 responsiveness to Scleroderma lung scaffolds, but not enhanced stiffness. Enhanced Netrin-1 expression was seen on CD14lo SSc-ILD cells and antibody mediated Netrin-1 neutralization attenuated CD45+Pro-ColIα1+ detection in all settings. Netrin-1+/− mice were protected from bleomycin induced lung fibrosis and fibrocyte accumulation. Conclusion Factors present in Scleroderma lung matrices regulate fibrocyte accumulation via a Netrin-1-dependent pathway. Netrin-1 regulates bleomycin induced murine pulmonary fibrosis. Netrin-1 might be a novel therapeutic target in SSc-ILD. PMID:26749424

  16. Recent Developments in the Classification, Evaluation, Pathophysiology, and Management of Scleroderma Renal Crisis.

    Science.gov (United States)

    Ghossein, Cybele; Varga, John; Fenves, Andrew Z

    2016-01-01

    Scleroderma renal crisis (SRC) is an uncommon complication of systemic sclerosis. Despite the advent of angiotensin-converting inhibitor therapy, SRC remains a life-threatening complication. Recent studies have contributed to a better understanding of SRC, but much remains unknown regarding its pathophysiology, risk factors, and optimal management. Genetic studies provide evidence that immune dysregulation might be a contributing factor, providing hope that further research in this direction might illuminate pathogenesis and provide novel predictors for this complication.

  17. Progressive Hemifacial Atrophy and Linear Scleroderma En Coup de Sabre: A Spectrum of the Same Disease?

    Directory of Open Access Journals (Sweden)

    Irina Khamaganova

    2018-01-01

    Full Text Available Similar clinical and histhopathological features in progressive hemifacial atrophy and linear scleroderma en coup de sabre are well known. Trauma may predispose to the development of both diseases. The lack of association with anti-Borrelia antibodies was shown in both cases as well. The otolaryngological and endocrine disorders may be associated findings in both diseases. However, there are certain differences in neurological and ophthalmological changes in the diseases.

  18. Mechanical properties of the gastro-esophageal junction in health, achalasia, and scleroderma.

    Science.gov (United States)

    Mearin, F; Fonollosa, V; Vilardell, M; Malagelada, J R

    2000-07-01

    Manometric assessment of the gastro-esophageal junction (GEJ) is deceptive in that ignores key dynamic properties of the junction, such as resistance to flow and compliance. Our aim was to investigate the mechanical properties of the GEJ comprising intraluminal pressure (measured by manometry), resistance to flow and compliance (measured by resistometry). We studied 8 healthy subjects, 11 patients with achalasia and 11 patients with scleroderma. We used a pneumatic resistometer, previously developed and validated in our laboratory. The resistometer consists of a flaccid polyurethane 5-cm cylinder connected to an electronically regulated nitrogen-injection system; the instrument records nitrogen flow through the cylinder while maintaining a constant pressure gradient between its proximal and distal ends. By placing the cylinder successively in the proximal stomach and along the GEJ we measured the GEJ-gastric resistance gradient (GEJ resistance minus gastric resistance) and were able to calculate the cumulative resistance (sum of resistance exerted at each pressure level), peak resistance (at any injection pressure), nil resistance point (injection pressure in mmHg at which GEJ resistance equals gastric resistance), and compliance slope (flow/pressure relationship). We found that GEJ resistance to flow (cumulative resistance, peak resistance, and nil resistance point) is significantly increased in achalasia and decreased in scleroderma (P < 0.05 versus health) while GEJ compliance is diminished in achalasia (P < 0.05 versus health) and normal in scleroderma. Achalasia is a disease characterized by increased GEJ resistance and rigidity. By contrast, although scleroderma is characterized by decreased GEJ resistance, GEJ compliance may be normal.

  19. Relação entre Fibrose e Arritmias Ventriculares na Cardiopatia Chagásica sem Disfunção Ventricular

    OpenAIRE

    Eduardo Marinho Tassi; Marcelo Abramoff Continentino; Emília Matos do Nascimento; Basílio de Bragança Pereira; Roberto Coury Pedrosa

    2014-01-01

    Fundamento: Pacientes com doença de Chagas com alteração segmentar apresentam pior prognóstico independentemente da fração de ejeção ventricular esquerda. A ressonância magnética cardíaca é atualmente o melhor método para detecção de alteração segmentar e para avaliação de fibrose miocárdica. Objetivo: Quantificar a fibrose, por meio do realce tardio, pela ressonância magnética cardíaca, em pacientes com doença de Chagas com fração de ejeção ventricular esquerda preservada ou minimamente ...

  20. O luto pela perda da saúde: vivências de ser mãe de uma criança com Fibrose Cística

    OpenAIRE

    ALMEIDA, Nancy Limeira de

    2012-01-01

    Este estudo tem por objetivo compreender como as mães da criança com Fibrose Cística (FC) vivenciam o luto pela perda da saúde do seu filho, considerando que esta ocorrência representa uma ameaça de morte continua à vida da criança, quando da ausência da adesão do tratamento. A Fibrose Cística é uma doença crônica, genética, sem cura e potencialmente letal, com prognóstico reservado, que demanda tratamento de alto impacto e intenso cuidado. A estratégia metodológica fundamen...

  1. Antitopoisomerase antibody positivity predates nailfold capillaroscopy abnormalities in scleroderma. Postulated classification of 'prescleroderma'.

    Science.gov (United States)

    Englert, H; Champion, D; Wu, J C; Giallussi, J; McGrath, M; Manolios, N

    2011-02-01

    In a patient with early topoisomerase antibody-positive scleroderma, antinuclear antibody positivity was fortuitously observed to predate nailfold capillaroscopy changes. Using this case as a template, the prediagnostic phase of the presumed multifactorial disease may be divided into 5 temporal phases--phase 1 representing conception and intrauterine environment, phase 2 representing the extrauterine environment predating environmental exposure; phase 3 representing the early post-environmental exposure interval with no detectable perturbed body status; phase 4 representing the post-environmental exposure interval characterized by autoantibody production and microvascular changes, and phase 5, the symptomatic clinical prediagnostic interval (Raynaud's, skin, musculoskeletal, gastrointestinal, cardiorespiratory) prompting scleroderma diagnosis. Temporal classification of prescleroderma aids in both the understanding and definition of scleroderma 'onset'. If altered nailfold capillaries and autoantibodies develop at comparable rates, and if the findings from this case--that autoantibody changes precede microvascular changes--are truly representative of the preclinical disease phase, then these findings argue that the evolution of the disease is from within the vessel outwards, rather than vice versa. © 2011 The Authors. Internal Medicine Journal © 2011 Royal Australasian College of Physicians.

  2. Radiotherapy for malignancy in patients with scleroderma: The Mayo Clinic experience

    International Nuclear Information System (INIS)

    Gold, Douglas G.; Miller, Robert C.; Petersen, Ivy A.; Osborn, Thomas G.

    2007-01-01

    Purpose: To determine the frequency of acute and chronic adverse effects in patients with scleroderma who receive radiotherapy for treatment of cancer. Methods and Materials: Records were reviewed of 20 patients with scleroderma who received radiotherapy. Acute and chronic toxic effects attributable to radiotherapy were analyzed, and freedom from radiation-related toxicity was calculated. Results: Of the 20 patients, 15 had acute toxic effects, with Grade 3 or higher toxicity for 3 patients. Seven patients had self-limited Grade 1 or 2 radiation dermatitis, and no patient had Grade 3 or higher radiation dermatitis. Thirteen patients had chronic toxic effects, with Grade 3 or higher chronic toxicity for 3 patients. The median estimated time to any grade chronic toxicity was 0.4 years, and the median estimated time to Grade 3 or higher chronic toxicity has not been reached. Conclusions: The results suggest that although some patients with scleroderma treated with radiation experience considerable toxic effects, the occurrence of Grade 3 or higher toxicity may be less than previously anticipated

  3. Autologous fat transplantation for depressed linear scleroderma-induced facial atrophic scars.

    Science.gov (United States)

    Roh, Mi Ryung; Jung, Jin Young; Chung, Kee Yang

    2008-12-01

    Facial linear scleroderma results in depressed atrophic scars. Autologous fat transplantation has been widely used, and fat appears to be an ideal material for filling depressed atrophic scars and contour deformities, but long-term results for autologous fat transplantation are controversial. To review the short- and long-term results of 20 patients who underwent multiple autologous fat transplantations for depressed atrophic scar correction. Twenty patients with clinically inactive facial linear scleroderma were included. They received at least two transplantations and had a 12-month follow-up evaluation. On the forehead, 51% to 75% improvement (average grading scale: 2.4) was achieved when observed at least 12 months after the last treatment. For the chin, correction was poor (average grading scale: 0.7) with less than 25% improvement. The infraorbital area showed fair correction, but the nose showed poor correction. Two of three patients with scalp reduction surgery showed excellent results, showing only slight scar widening. Autologous fat transplantation is an effective method for long-term correction of depressed atrophic scars left by linear scleroderma on the forehead but is less effective for corrections on the nose, infraorbital area, and chin.

  4. Scanning laser Doppler imaging may predict disease progression of localized scleroderma in children and young adults.

    Science.gov (United States)

    Shaw, L J; Shipley, J; Newell, E L; Harris, N; Clinch, J G; Lovell, C R

    2013-07-01

    Localized scleroderma is a rare but potentially disfiguring and disabling condition. Systemic treatment should be started early in those with active disease in key functional and cosmetic sites, but disease activity is difficult to determine clinically. Superficial blood flow has been shown to correlate with disease activity in localized scleroderma. To examine whether superficial blood flow measured by laser Doppler imaging (LDI) has the potential to predict disease progression and therefore select patients for early systemic treatment. A group of 20 individuals had clinical assessment and scanning LDI blood-flow measurements of 32 affected body sites. After a mean follow-up of 8.7 months their clinical outcome was compared with the results of the initial LDI assessment. Eleven out of 15 patients with an assessment of active LDI had progressed clinically, and 16 out of the 17 scans with inactive LDI assessment had not progressed, giving a positive predictive value of 73% and a negative predictive value of 94%. We believe that LDI can be a useful tool in predicting disease progression in localized scleroderma, and it may help clinicians to decide which patients to treat early. © 2013 The Authors BJD © 2013 British Association of Dermatologists.

  5. Diabetes melito: uma importante co-morbidade da fibrose cística Diabetes mellitus in patients with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Crésio de Aragão Dantas Alves

    2007-04-01

    Full Text Available Diabetes melito relacionado à fibrose cística (DMFC é a principal complicação extrapulmonar da fibrose cística. Atualmente, ele afeta 15-30% dos adultos com fibrose cística e sua prevalência tende a aumentar com o aumento da expectativa de vida desses pacientes. Esse trabalho tem por objetivo rever a fisiopatologia, morbidade, manifestações clínicas, diagnóstico e tratamento do DMFC. Uma pesquisa bibliográfica utilizou os bancos de dados Medline e Literatura Latino-Americana e do Caribe em Ciências da Saúde, selecionando artigos publicados nos últimos vinte anos. A insulinopenia secundária à destruição de células beta pancreáticas é o principal mecanismo causal, embora a resistência insulínica também possa estar presente. O DMFC apresenta características do diabetes melito tipo 1 e tipo 2 e tem início, em média, aos 20 anos de idade. Ele pode cursar com hiperglicemia em jejum, pós-prandial ou intermitente. As alterações do metabolismo glicêmico agravam o estado nutricional, aumentam a morbidade, diminuem a sobrevida e pioram a função pulmonar. As complicações microvasculares estão presentes, porém raramente observam-se as macrovasculares. A triagem para o DMFC deve ser anual, a partir dos 10 anos de idade, através do teste de tolerância oral à glicose e, em qualquer faixa etária, se houver perda ponderal inexplicada ou sintomatologia de diabetes. Pacientes hospitalizados também devem ser investigados e receber terapia insulínica se a hiperglicemia em jejum persistir além de 48 h. A insulina é o tratamento de escolha para o diabetes com hiperglicemia em jejum. Não existe consenso quanto ao tratamento do diabetes intermitente ou sem hiperglicemia de jejum. Não há orientações de restrições alimentares. O acompanhamento deve ser multidisciplinar.Cystic fibrosis-related diabetes (CFRD is the principal extra-pulmonary complication of cystic fibrosis, occurring in 15-30% of adult cystic fibrosis

  6. Paraneoplastic scleroderma-like tissue reactions in the setting of an underlying plasma cell dyscrasia: a report of 10 cases.

    Science.gov (United States)

    Magro, Cynthia M; Iwenofu, Hans; Nuovo, Gerard J

    2013-07-01

    Systemic plasma cell dyscrasias have diverse manifestations in the skin and include an inflammatory paraneoplastic process. We encountered cases of scleroderma and eosinophilic fasciitis in the setting of an underlying plasma cell dyscrasia. Ten cases of scleroderma-like tissue reactions in the setting of an underlying plasma cell dyscrasia were encountered. The biopsies were stained for Transforming growth factor (Transforming growth factor) beta, IgG4, kappa, and lambda. Patients presented with a sclerodermoid reaction represented by eosinophilic fasciitis (5 cases), morphea (3 cases), and systemic scleroderma (2 cases). The mean age of presentation was 70 years with a striking female predominance (4:1). Acral accentuation was noted in 8 cases. In 6 of the cases, the cutaneous sclerosis antedated (4 cases) by weeks to 2 years or occurred concurrently (2 cases) with the initial diagnosis of the plasma cell. The biopsies showed changes typical of eosinophilic fasciitis and/or scleroderma. In 5 cases, light chain-restricted plasma cells were present on the biopsy. There was staining of the plasma cells for Transforming growth factor beta in 3 out of 5 cases tested. In any older patient presenting with a sudden onset of eosinophilic fasciitis or scleroderma especially with acral accentuation, investigations should be conducted in regards to an underlying plasma cell dyscrasia.

  7. [Using the polymerase chain reaction to Borrelia burgdorferi infection in localized scleroderma injure (morphea), in Venezuelan patients].

    Science.gov (United States)

    Espinoza-León, Fabiola; Arocha, Francisco; Hassanhi, Manzur; Arévalo, Julio

    2010-09-01

    Borrelia burgdorferi is the causative agent of Lyme Borreliosis, an infectious multisystemic disease transmitted to humans by the Ixodes ticks bite. A possible association of Borrelia burgdorferi with localized scleroderma has been postulated. However, published data do not provide unequivocal results. Previous serologic analysis of patients with localized scleroderma in South American countries (including Venezuela), have been reported as yielding some reactivity. The present study looked for evidence of Borrelia burgdorferi infection in venezuelan patients with localized scleroderma, using the polymerase chain reaction to analyze 21 skin samples of patients with this skin condition. The results were negative in all the samples studied. Our data do not support an association of Borrelia burgdorferi infection and the sclerotic lesions of localized scleroderma; but do not rule out the possibility of a relationship between localized scleroderma and an unknown geno-specie of Borrelia burgdorferi sensu lato complex, a different Borrelia specie or a different spirochetal organism, as the etiological agents of the skin lesions in this area.

  8. Evaluation of Peripheral Blood Circulation Disorder in Scleroderma Patients Using an Optical Sensor with a Pressurization Mechanism.

    Directory of Open Access Journals (Sweden)

    Yoshiki Yamakoshi

    Full Text Available Blood circulation function of peripheral blood vessels in skin dermis was evaluated employing an optical sensor with a pressurization mechanism using the blood outflow and reflow characteristics. The device contains a light source and an optical sensor. When applied to the skin surface, it first exerts the primary pressure (higher than the systolic blood pressure, causing an outflow of blood from the dermal peripheral blood vessels. After two heartbeats, the pressure is lowered (secondary pressure and blood reflows into the peripheral blood vessels. Hemoglobin concentration, which changes during blood outflow and reflow, is derived from the received light intensity using the Beer-Lambert law. This method was evaluated in 26 healthy female volunteers and 26 female scleroderma patients. In order to evaluate the blood circulation function of the peripheral blood vessels of scleroderma patients, pressurization sequence which consists of primary pressure followed by secondary pressure was adopted. Blood reflow during the first heartbeat period after applying the secondary pressure of 40mmHg was (mean±SD 0.059±0.05%mm for scleroderma patients and 0.173±0.104%mm for healthy volunteers. Blood reflow was significantly lower in scleroderma patients than in healthy volunteers (p<0.05. This result indicates that the information necessary for assessing blood circulation disorder of peripheral blood vessels in scleroderma patients is objectively obtained by the proposed method.

  9. Relação entre Fibrose e Arritmias Ventriculares na Cardiopatia Chagásica sem Disfunção Ventricular

    Directory of Open Access Journals (Sweden)

    Eduardo Marinho Tassi

    2014-06-01

    Full Text Available Fundamento: Pacientes com doença de Chagas com alteração segmentar apresentam pior prognóstico independentemente da fração de ejeção ventricular esquerda. A ressonância magnética cardíaca é atualmente o melhor método para detecção de alteração segmentar e para avaliação de fibrose miocárdica. Objetivo: Quantificar a fibrose, por meio do realce tardio, pela ressonância magnética cardíaca, em pacientes com doença de Chagas com fração de ejeção ventricular esquerda preservada ou minimamente comprometida (> 45% e detectar padrões de dependência entre fibrose, alteração segmentar e fração de ejeção ventricular esquerda na presença de arritmia ventricular. Métodos: Foram realizados eletrocardiograma, teste ergométrico, Holter e ressonância magnética cardíaca em 61 pacientes, separados em três grupos: (1 eletrocardiograma normal e ressonância magnética cardíaca sem alteração segmentar; (2 eletrocardiograma alterado e ressonância magnética cardíaca sem alteração segmentar; e (3 ressonância magnética cardíaca com alteração segmentar independentemente de alteração no eletrocardiograma. Resultados: O número de pacientes com arritmia ventricular em relação ao número total de pacientes em cada grupo, a porcentagem de fibrose e a fração de ejeção ventricular esquerda foram, respectivamente: no primeiro grupo, 4/26, 0,74% e 74,34%; no segundo grupo, 4/16, 3,96% e 68,5%; e no terceiro grupo, 11/19, 14,07% e 55,59%. Arritmia ventricular foi encontrada em 31,1% dos pacientes. Aqueles com e sem arritmia ventricular apresentaram fração de ejeção ventricular esquerda média de 59,87% e 70,18%, respectivamente, e fibrose de 11,03% e 3,01%, respectivamente. Das variáveis alteração segmentar, grupos, idade, fração de ejeção ventricular esquerda e fibrose, a última foi a única significativa para a presença de arritmia ventricular, com ponto de corte de 11,78% para massa fibrosada (p < 0

  10. Frontal fibrosing alopecia: possible association with leave-on facial skin care products and sunscreens; a questionnaire study.

    Science.gov (United States)

    Aldoori, N; Dobson, K; Holden, C R; McDonagh, A J; Harries, M; Messenger, A G

    2016-10-01

    Since its first description in 1994, frontal fibrosing alopecia (FFA) has become increasingly common, suggesting that environmental factors are involved in the aetiology. To identify possible causative environmental factors in FFA. A questionnaire enquiring about exposure to a wide range of lifestyle, social and medical factors was completed by 105 women with FFA and 100 age- and sex-matched control subjects. A subcohort of women with FFA was patch tested to an extended British standard series of allergens. The use of sunscreens was significantly greater in the FFA group compared with controls. Subjects with FFA also showed a trend towards more frequent use of facial moisturizers and foundations but, compared with controls, the difference in frequencies just failed to reach statistical significance. The frequency of hair shampooing, oral contraceptive use, hair colouring and facial hair removal were significantly lower in the FFA group than in controls. Thyroid disease was more common in subjects with FFA than controls and there was a high frequency of positive patch tests in women with FFA, mainly to fragrances. Our findings suggest an association between FFA and the use of facial skin care products. The high frequency of sunscreen use in patients with FFA, and the fact that many facial skin care products now contain sunscreens, raises the possibility of a causative role for sunscreen chemicals. The high frequency of positive patch tests in women with FFA and the association with thyroid disease may indicate a predisposition to immune-mediated disease. © 2016 British Association of Dermatologists.

  11. A intersubjetividade no contexto da família de pessoas com fibrose cística

    Directory of Open Access Journals (Sweden)

    Geisa Santos Luz

    2012-04-01

    Full Text Available Trata-se de uma investigação qualitativa, com aproximação fenomenológica, que objetivou desvelar os processos intersubjetivos no contexto da família de pessoas com Fibrose Cística (FC. Desenvolveu-se entrevista com 14 famílias com portadores de FC, cadastrados na Associação Paranaense de Assistência à Mucoviscidose (AAMPR, residentes nas regiões Norte e Noroeste do estado do Paraná (PR, Brasil. Das suas falas foram apreendidas unidades de significado, agrupadas em três categorias: Família, portador de FC e o outro; Aspectos religiosos na vivência da FC na família; Portador de FC na vida escolar, afetiva e profissional. Os resultados evidenciaram que a experiência das famílias compartilhada com o outro foi crucial para o enfrentamento da doença. Conhecer os processos intersubjetivos que perpassam o âmago da família de pessoas acometidas pela FC possibilita um novo modo de atuar em Enfermagem.

  12. Metabolism of carbon-14 labelled l-tryptophan, l-kynerenine and hydroxy-l-kynerenine in miners with scleroderma

    International Nuclear Information System (INIS)

    Hankes, L.V.; De Bruin, E.; Jansen, C.R.; Voster, L.; Schmaeler, M.

    1977-01-01

    Six South African white miners were studied with the 2-g l-tryptophan load test and tracer doses of L-tryptophan-7a-carbon-14, L-kynurenine-keto-carbon-14 and hydroxy-L-kynerenine-keto-carbon-14. The breath 14 CO 2 and 14 urinary metabolites were measured. When they were compared with a previous study of American women with scleroderma, similar 14 CO 2 and tryptophan metabolite excretion patterns were observed in the data from the miners. The labelled quinolinic acid excretion was more significantly elevated in the South African miners' urine than in the urine of the American women. The data from both studies suggest that some patients with scleroderma have an altered step in the tryptophan metabolic pathway after hydroxy-anthranilic acid. What relationship exists between the induction of pulmonary silicosis and the subsequent development of scleroderma, requires additional human studies

  13. Mild Cognitive Impairment as a single sign of brain hemiatrophy in patient with Localized Scleroderma and Parry-Romberg Syndrome.

    Science.gov (United States)

    Klimiec, Elzbieta; Klimkowicz-Mrowiec, Aleksandra

    2016-01-01

    Neurologic involvement is well recognized in Systemic Scleroderma and increasingly reported in Localized Scleroderma. MRI brain abnormalities are often associated with symptoms such as seizures or headaches. In some cases they may be clinically silent. We describe a 23 years old female with head, trunk and limbs scleroderma who developed Parry-Romberg Syndrome. Brain MRI showed ipsilateral temporal lobe atrophy without any prominent neurologic symptoms. Neuropsychological examination revealed Mild Cognitive Impairment. During the 7 years of follow up we have noticed progression of face atrophy but no progression of brain atrophy. Cognitive functions have been stable. This case highlight that major MRI brain abnormalities in LS may occur with only subtle clinical manifestation such as Mild Cognitive Impairment. Copyright © 2016 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  14. High prevalence of occult left heart disease in scleroderma-pulmonary hypertension.

    Science.gov (United States)

    Fox, Benjamin D; Shimony, Avi; Langleben, David; Hirsch, Andrew; Rudski, Lawrence; Schlesinger, Robert; Eisenberg, Mark J; Joyal, Dominique; Hudson, Marie; Boutet, Kim; Serban, Alexandrina; Masetto, Ariel; Baron, Murray

    2013-10-01

    Our study aimed to determine the prevalence of occult left-heart disease in patients with scleroderma and pulmonary hypertension. In patients with pulmonary hypertension (mean pulmonary artery pressure (mean PAP)≥25 mmHg), differentiation between pre- and post-capillary pulmonary hypertension has been made according to pulmonary artery wedge pressure (PAWP) less than or more than 15 mmHg, respectively. We performed a retrospective chart review of 107 scleroderma patients. All patients with suspected pulmonary hypertension had routine right or left heart catheterisation with left ventricular end-diastolic pressure (LVEDP) measurement pre-/post-fluid challenge. We extracted demographic, haemodynamic and echocardiographic data. Patients were classified into one of four groups: haemodynamically normal (mean PAP15 mmHg); occult PVH (mean PAP≥25 mmHg, PAWP≤15 mmHg, LVEDP>15 mmHg before or after fluid challenge); and pulmonary arterial hypertension (PAH) (mean PAP≥25 mmHg, PAWP≤15 mmHg and LVEDP≤15 mmHg before or after fluid challenge). 53 out of 107 patients had pulmonary hypertension. Based on the PAWP-based definition, 29 out of 53 had PAH and 24 out of 53 had PVH. After considering the resting and post-fluid-challenge LVEDP, 11 PAH patients were reclassified as occult PVH. The occult PVH group was haemodynamically, echocardiographically and demographically closer to the PVH group than the PAH group. PVH had high prevalence in our scleroderma-pulmonary hypertension population. Distinguishing PAH from PVH with only PAWP may result in some PVH patients being misclassified as having PAH.

  15. Esclerodermia localizada: Diagnósticos diferenciales Localized scleroderma: Differential diagnosis

    Directory of Open Access Journals (Sweden)

    MB Leroux

    2011-09-01

    Full Text Available La esclerodermia localizada constituye un desorden autoinmune órgano específico, que compromete sobre todo la piel. Se caracteriza por inflamación seguida de esclerosis e incluye distintas formas clínicas. La etiología de la esclerodermia localizada no ha sido establecida. El diagnóstico diferencial incluye cuadros esclerodermiformes, desencadenados por factores intrínsecos y extrínsecos que están siendo estudiados. Entre ellos se incluyen: exposición a radiaciones o tóxicos, consumo de medicamentos, infecciones y enfermedades de origen endocrino-metabólico, genético e inflamatorio. En primer lugar, se debe descartar la esclerodermia sistémica. En segundo lugar, se clasifican las entidades con predominio de esclerosis o atrofia. Por último, se incluyen algunas enfermedades en un cuadro comparativo.Localized scleroderma is an autoimmune organ specific disorder with an important skin compromise. It is an inflammatory process with several distinct clinical characteristics. The etiology of localized scleroderma has not been established yet. Differential diagnosis includes sclerodermiform onset unchained by intrinsic and extrinsic factors that are presently studied. Among them must be taking into account: exposure to radiation or toxic agents, therapeutic drugs, infections and diseases of endocrine, metabolic, genetic or inflammatory etiology. Firstly, it must be point out that systemic scleroderma must be ruled out. Secondly, disorders predominantly with sclerosis and atrophy must be classified and lastly, some other diseases are included in a comparative table.

  16. Scleroderma and pulmonary hypertension Esclerodermia e hipertensão pulmonar

    Directory of Open Access Journals (Sweden)

    Karen A. Fagan

    2003-10-01

    Full Text Available Patients with scleroderma are at increased risk for the development of pulmonary hypertension, and the development of unexplained dyspnea or an isolated decrease in diffusing capacity should prompt evaluation. Echocardiography is often helpful in this situation, with further testing being performed as indicated. Because the prognosis of untreated pulmonary hypertension occurring in the setting of scleroderma is generally quite poor, vigilance is required on the part of physicians following this "at risk" group of patients. The past decade has seen important advances in the treatment of pulmonary arterial hypertension, including intravenous epoprostenol, oral bosentan and subcutaneously infused treprostinil. As new therapies are developed for the treatment of pulmonary arterial hypertension, it is essential that patients with scleroderma-related disease are included in clinical trials.Pacientes com esclerodermia têm risco aumentado para desenvolver hipertensão pulmonar. O aparecimento de dispnéia e/ou a diminuição da capacidade de difusão devem levar à suspeita imediata dessa complicação. A ecodopplercardiografia é importante para o diagnóstico e o seguimento desses casos. Os casos não tratados de hipertensão pulmonar em esclerodermia têm mau prognóstico, daí a necessidade em manter sob vigilância estes pacientes. Na última década surgiram avanços para o tratamento da hipertensão arterial pulmonar, incluindo os medicamentos epoprostenol EV, bosentan VO e treprostinil SC. À medida que novas terapias vão sendo desenvolvidas, torna-se necessário a realização de estudos clínicos de maior validade.

  17. HRCT of the lung in collagen vascular diseases; HRCT der Lunge bei Kollagenosen

    Energy Technology Data Exchange (ETDEWEB)

    Diederich, S. [Inst. fuer Klinische Radiologie, Westfaelische Wilhelms-Univ., Muenster (Germany); Roos, N. [Inst. fuer Klinische Radiologie, Westfaelische Wilhelms-Univ., Muenster (Germany); Schmitz-Linneweber, B. [Medizinische Klinik B, Westfaelische Wilhelms-Univ., Muenster (Germany); Gaubitz, M. [Medizinische Klinik B, Westfaelische Wilhelms-Univ., Muenster (Germany); Peters, P.E. [Inst. fuer Klinische Radiologie, Westfaelische Wilhelms-Univ., Muenster (Germany)

    1996-07-01

    Collagen vascular diseases, representing systemic soft tissue disorders, may cause a broad spectrum of pathologic changes of the respiratory tract. The type and extent of manifestations can vary considerably among individuals and entities. This survey describes the chest radiographic and, in particular, high-resolution computed tomographic and, in particular, high-resolution computed tomographic (HRCT) findings of individual lesions of the respiratory tract. It includes fibrosing alveolitis (alveolitis, interstitial pneumonia, pulmonary fibrosis) and bronchial (bronchitis/bronchiolitis, bronchiectasis), pleural and vascular manifestations, as well as lymphadenopathy and abnormalities related to therapy. We present typical patterns of changes in progressive systemic sclerosis (PSS, scleroderma), systemic lupus erythematosus (SLE), mixed connective tissue disease (MCTD, Sharp syndrome), Sjoegren syndrome, overlap syndrome and rheumatoid arthritis (RA). Furthermore, we describe findings which are specific for individual entities such as esophageal involvement in PSS, acute pneumonitis and pulmonary hemorrhage in SLE, lymphoproliferative disease in Sjoegren syndrome and necrobiotic nodules in RA. (orig.) [Deutsch] Die Kollagenosen koennen als systemische Bindegewebserkrankungen auch zu einem breiten Spektrum pathologischer Veraenderungen am Respirationstrakt fuehren, wobei sich Art und Ausmass der Manifestationen innerhalb einzelner Entitaeten und zwischen verschiedenen Krankheitsbildern erheblich unterscheiden koennen. In der vorliegenden Uebersicht werden die entsprechenden Befunde von Thoraxuebersichtsaufnahme und insbesondere hochaufloesender Computertomographie (HRCT) beschrieben. Beruecksichtigt werden dabei die fibrosierende Alveolitis (Alveolitis, interstitielle Pneumonie, Lungenfibrose), bronchiale (Bronchitis/Bronchiolitis, Bronchiektasen), pleurale und vaskulaere Manifestationen sowie Lymphadenopathie und therapie-induzierte Befunde. Typische Befundmuster

  18. Scleroderma "en coup de sabre" With Epilepsy and Uveitis Successfully Treated With Tocilizumab.

    Science.gov (United States)

    Osminina, Maria; Geppe, Nathalia; Afonina, Elena

    2018-06-18

    Case history of a small girl outlet with epilepsy, followed by scleroderma skin damage and uveitis, neurovasculitis with white matter foci in brain on the side of skin lesion in two months, immunologic disease activity. Resistance to conventional immunosuppressive therapy forced us to initiate the treatment with tocilizumab. It was well tolerated and led to significant improvement of brain, ocular and skin manifestations. Copyright © 2018 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  19. The preliminary evaluation on sclerodermas of newborn baby with thyroid hormone and β2-MG ria

    International Nuclear Information System (INIS)

    Liu Junchi; Du Sujun

    1995-01-01

    The combined determination of thyroid hormone and β 2 -MG may be used as the sensitive indication of the early degeneration of liver and kidney function. It is probably due to the damage of liver and kidney by scleroderma in newborn baby. The observation of 68 cases show that the serum levels of T 3 ,FT 3 in the concentration of thyroid hormone decreased significantly, and syndrome of the low serum T 3 , high serum rT 3 are taken place. Whereas, the serum level of β 2 -MG is increased significantly

  20. Spinal subarachnoid hemorrhage caused by scleroderma-induced aneurysm: a case report

    International Nuclear Information System (INIS)

    Mueller, J.; Neidl, K.; Contier-Dippel, B.; Huber, G.; Ernst, E.

    1995-01-01

    We introduce a 58-year-old woman who suffered from progressive systemic scleroderma (PSS) associated with trigeminal sensory neuropathy for approximately 10 years. She then had a stroke from spinal subarachnoid hemorrhage (SSAH). Spinal digital subtraction angiography (DSA) revealed two aneurysms and smaller dilations of the afferent vessel that could also be seen by MRI. Three asymptomatic brain infarctions in different vascular regions could be revealed by CCT. The SSAH, ischemic lesions and aneurysms were probably caused by vasculitic affections induced by PSS. (orig.)

  1. Imaging features in calcinosis circumscripta, a rare type of subcutaneous calcification in localized scleroderma

    Directory of Open Access Journals (Sweden)

    Pratiksha Yadav

    2013-01-01

    Full Text Available Calcinosis cutis circumscripta is a rare condition in which abnormal deposition of calcium seen in the dermis and subcutaneous tissue, it is associated with localized scleroderma. A 30-year-old female presented with an area of extensive calcification involving the right gluteal region, lateral aspect of right thigh and a small area on left thigh detected on radiograph with atrophy of subcutaneous tissue. Magnetic resonance imaging and computed tomography were done for further evaluation and the findings were of calcification and atrophy involving the skin and subcutaneous tissue.

  2. Spinal subarachnoid hemorrhage caused by scleroderma-induced aneurysm: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Mueller, J. [Inst. fuer Neuroradiologie der Universitaetskliniken des Saarlandes, Homburg/Saar (Germany); Neidl, K. [Inst. fuer Neuroradiologie der Universitaetskliniken des Saarlandes, Homburg/Saar (Germany); Contier-Dippel, B. [Inst. fuer Neuroradiologie der Universitaetskliniken des Saarlandes, Homburg/Saar (Germany); Huber, G. [Inst. fuer Neuroradiologie der Universitaetskliniken des Saarlandes, Homburg/Saar (Germany); Ernst, E. [Neurologische Abt., Caritas Krankenhaus, Dillingen (Germany)

    1995-11-01

    We introduce a 58-year-old woman who suffered from progressive systemic scleroderma (PSS) associated with trigeminal sensory neuropathy for approximately 10 years. She then had a stroke from spinal subarachnoid hemorrhage (SSAH). Spinal digital subtraction angiography (DSA) revealed two aneurysms and smaller dilations of the afferent vessel that could also be seen by MRI. Three asymptomatic brain infarctions in different vascular regions could be revealed by CCT. The SSAH, ischemic lesions and aneurysms were probably caused by vasculitic affections induced by PSS. (orig.)

  3. O impacto da fibrose cística no perfil imunológico de pacientes pediátricos

    Directory of Open Access Journals (Sweden)

    Daniela M. Bernardi

    2013-02-01

    Full Text Available OBJETIVO: Comparar o estado imunológico de 44 pacientes pediátricos com fibrose cística (FCa umgrupo-controle formado por 16 indivíduos saudáveis. MÉTODOS: Foram selecionados para o estudo pacientes com FC com idade entre 3 e 12 anos, apresentando um escore clínico moderado e bom. Foram avaliados a glutationa eritrocitária, a produção de espécies reativas de oxigênio, citocinas (TNF-α, IFN-γ, IL-8, IL-6, IL-10 em culturas de células mononucleares do sangue periférico em condições espontâneas e estimuladas por BCG ou PHA, a concentração sérica de TGF-β2, IgA, IgG, IgM, IgE e IgA salivar. RESULTADOS :A produção espontânea de TNF-α, IL-6 e IL-10, a produção de IL-6 estimulada por PHA e TGF-β2, IgA e IgG séricas aumentaram em amostras de pacientes com FC. Indivíduos saudáveis tiveram uma produção mais elevada de TNF-α em resposta a BCG. CONCLUSÃO: Apesar de os pacientes com FC parecerem clinicamente estáveis, os resultados de seus exames de sangue periférico mostraram que houve um impacto sobre o sistema imunológico.

  4. Exacerbação aguda da fibrose pulmonar idiopática Acute exacerbation of idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Natália Melo

    2009-03-01

    Full Text Available Alguns doentes com fibrose pulmonar idiopática (FPI apresentam durante a sua evolução fases deagravamento clínico sem causa conhecida, designadas como “exacerbação aguda” ou “fase acelerada” da doença (EA. Caracterizam -se pelo agravamento marcado da dispneia, hipoxemia e pelo aparecimento de novas opacidades pulmonares ou pelo agravamento das já existentes no estudo imagiológico. Os achados histológicos típicos são o dano alveolar difuso (DAD sobreposto a alterações de pneumonia intersticial usual (UIP. Esta entidade clínica associa -se a uma mortalidade elevada, não havendo até ao momento nenhuma terapêutica de comprovada eficácia. Os autores descrevem os casos clínicos de cinco doentes que apresentaram alterações clínicas, funcionais e radiológicas sugestivas de EA-FPI, assim como o tratamento efectuado e a evolução observada, enquadrando-os na discussão das características normalmente apresentadas por esta entidade.Some patients with Idiopathic Pulmonary Fibrosis (IPF have disease accelerated deterioration without identifiable cause referred as “acute exacerbation” or “accelerated stage”. It is characterized by severe worsening of dyspnea, hypoxemia and new or progressive opacities on imaging studies. The typical histological findings are diffuse alveolar damage in addition to the features of usual interstitial pneumonia pattern. Mortality in this clinical entity is very high and no efficacious therapeutic have been described. The authors describe the clinical, functional and radiological features, treatment and evolution of five patients with IPF acute exacerbation. A discussion will be carry out concerning the IPF acute exacerbation usual features comparing with the alterations noticed in those patients.

  5. EULAR recommendations for the treatment of systemic sclerosis: a report from the EULAR Scleroderma Trials and Research group (EUSTAR)

    NARCIS (Netherlands)

    Kowal-Bielecka, O.; Landewé, R.; Avouac, J.; Chwiesko, S.; Miniati, I.; Czirjak, L.; Clements, P.; Denton, C.; Farge, D.; Fligelstone, K.; Földvari, I.; Furst, D. E.; Müller-Ladner, U.; Seibold, J.; Silver, R. M.; Takehara, K.; Toth, B. Garay; Tyndall, A.; Valentini, G.; van den Hoogen, F.; Wigley, F.; Zulian, F.; Matucci-Cerinic, Marco

    2009-01-01

    The optimal treatment of systemic sclerosis (SSc) is a challenge because the pathogenesis of SSc is unclear and it is an uncommon and clinically heterogeneous disease affecting multiple organ systems. The aim of the European League Against Rheumatism (EULAR) Scleroderma Trials and Research group

  6. Inhibition of collagen production in scleroderma fibroblast cultures by a connective tissue glycoprotein extracted from normal dermis

    International Nuclear Information System (INIS)

    Maquart, F.X.; Bellon, G.; Cornillet-Stoupy, J.; Randoux, A.; Triller, R.; Kalis, B.; Borel, J.P.

    1985-01-01

    It was shown in a previous paper that a connective tissue glycoprotein (CTGP) extracted from normal rabbit dermis was able to inhibit total protein and collagen syntheses by normal dermis fibroblast cultures. In the present study, the effects of CTGP on scleroderma fibroblasts were investigated. [ 14 C]Proline incorporation into total proteins of the supernatant was not significantly different from that found in controls. By contrast, the amount of collagen, expressed as percentage of total secreted protein, was far higher in scleroderma cultures than in normal ones (14.4% +/- 6.0% vs 4.6% +/- 0.9%). Addition of CTGP to the medium induced a concentration-dependent inhibition of [ 14 C]proline incorporation into proteins from both control and scleroderma cells. In control cultures, no significant decrease of the percentage of collagen was observed, but over 60 micrograms/ml, both cytotoxic effects and inhibition of protein synthesis occurred. In scleroderma cultures, the inhibition was twice as effective on collagen as on noncollagen protein synthesis. The inhibition of collagen secretion was not related either to changes in collagen hydroxylation or to the intracellular catabolism of newly synthesized procollagen

  7. Evaluation of medium-dose UVA1 phototherapy in localized scleroderma with the cutometer and fast Fourier transform method

    NARCIS (Netherlands)

    de Rie, M. A.; Enomoto, D. N. H.; de Vries, H. J. C.; Bos, J. D.

    2003-01-01

    Purpose: To evaluate the efficacy of medium-dose UVA1 phototherapy in patients with localized scleroderma. Method: A controlled pilot study with medium-dose UVA1 (48 J/cm(2)) was performed. The results were evaluated by means of a skin score and two objective methods for quantifying sclerosis

  8. Disability, fatigue, pain and their associates in early diffuse cutaneous systemic sclerosis: the European Scleroderma Observational Study

    DEFF Research Database (Denmark)

    Peytrignet, Sébastien; Denton, Christopher P; Lunt, Mark

    2018-01-01

    Objectives: Our aim was to describe the burden of early dcSSc in terms of disability, fatigue and pain in the European Scleroderma Observational Study cohort, and to explore associated clinical features. Methods: Patients completed questionnaires at study entry, 12 and 24 months, including the HA...

  9. Validation of the Self-Efficacy for Managing Chronic Disease Scale: A Scleroderma Patient-Centered Intervention Network cohort study

    NARCIS (Netherlands)

    Riehm, K.E.; Kwakkenbos, C.M.C.; Carrier, M.E.; Bartlett, S.J.; Malcarne, V.L.; Mouthon, L.; Nielson, W.R.; Poiraudeau, S.; Nielsen, K.; Baron, M.; Frech, T.; Hudson, M.; Pope, J.; Sauvé, M.; Suarez-Almazor, M.E.; Wigley, F.M.; Thombs, B.D.

    2016-01-01

    Objective: Self-management programs for patients with chronic illnesses, including rheumatic diseases, seek to enhance self-efficacy for performing health management behaviors. No measure of self-efficacy has been validated for patients with systemic sclerosis (SSc; scleroderma). The objective of

  10. The role of ultrasound imaging in the evaluation of peripheral nerve in systemic sclerosis (scleroderma)

    International Nuclear Information System (INIS)

    Tagliafico, Alberto; Panico, Nicoletta; Resmini, Eugenia; Derchi, Lorenzo E.; Ghio, Massimo; Martinoli, Carlo

    2011-01-01

    Background: Patients affected by scleroderma may complain of sensory disturbances especially in the hands. Purpose: To study the imaging features of upper limb nerves in patients affected by scleroderma (SSc). Materials and method: Twenty-five patients affected only by SSc were prospectively evaluated with high-resolution US and magnetic resonance (MRI) or computer tomography (CT) when necessary (2 patients). Median and ulnar nerves were evaluated bilaterally. Nerve conduction studies were performed in the symptomatic patients (n = 10). Results of imaging studies were correlated with disease duration, autoimmunity and immunosuppression. Nerves of SSc patients were compared with a control group of 90 patients matched for age and body mass index. Results: The prevalence of sensory disturbances revealed by clinical examination was 40%. In symptomatic SSc patients (n = 10) US evaluation revealed nerve abnormalities in 70% of cases (n = 7/10). n = 2 had a carpal tunnel syndrome. n = 5 had cubital tunnel syndrome. In two of them CT and MR were necessary to identify the compressed nerve at the level of the elbow due to the presence of calcifications. There was no association between the presence of an entrapment neuropathy and disease duration, autoantibodies and immunosuppression. Conclusion: Ultrasound, CT and MR may detect nerve abnormalities in 70% of SSc patients complaining of neurologic disturbances in the hands. The results of imaging studies support the hypothesis of a vascular dependent neuropathy in SSc.

  11. Esophageal function scintigraphy as parameter for organ involvement of progressive systemic scleroderma

    International Nuclear Information System (INIS)

    Leisner, B.; Koenig, G.; Hundegger, K.; Luderschmidt, C.

    1986-01-01

    Involvement of internal organs such as lungs, heart and kidneys, is a life-threatening complication in progressive systemic scleroderma (PSS). However, the earliest and the most frequent internal manifestation of PSS is that of esophageal dysfunction. This study was undertaken to determine whether the new, sensitive and noninvasive esphageal function scintigraphy (EFS) enables us to identify patients likely to develop pulmonary interstitial fibrosis. 131 patients with PSS of different clinical types and courses underwent EFS. The esophageal clearance of a sup(99m)Tc-tagged 15 ml water bolus was measured. In normals, 91 +- 4.8% of the maximal rate were cleared from the ROI comprising the whole esophagus 10 sec after T max was reached. For comparison, chest X-rays and pulmonary function data were used. In the presence of interstitial lung disease EFS gave normal results in four patients only (sensitivity, 89%). All cases with either severely impaired lung function or signs of fibrosis on X-ray films showed esophageal clearance values below 40%. Moreover, esophageal motility disorders were seen in 32 among 43 patients with normal lung function. There was a correlationi between the stage and progression (reflected by unspecific signs of inflammation) and the incidence and severity of both lung function impairment and esophageal dysfunction. In conclusion, functional scintigraphy proved to be a very sensitive diagnostic procedure in the screening for internal manifestations of progressive systemic scleroderma. (Author)

  12. Systemic sclerosis complicated with localized scleroderma-like lesions induced by Köbner phenomenon.

    Science.gov (United States)

    Saigusa, Ryosuke; Asano, Yoshihide; Yamashita, Takashi; Takahashi, Takehiro; Nakamura, Kouki; Miura, Shunsuke; Ichimura, Yohei; Toyama, Tetsuo; Taniguchi, Takashi; Sumida, Hayakazu; Tamaki, Zenshiro; Miyazaki, Miki; Yoshizaki, Ayumi; Sato, Shinichi

    2018-03-01

    Scleroderma is a chronic disease of unknown etiology characterized by skin fibrosis and is divided into two clinical entities: systemic sclerosis (SSc) and localized scleroderma (LSc). In general, LSc is rarely complicated with SSc, but a certain portion of SSc patients manifests bilateral symmetric LSc-like lesions on the trunk and extremities. We investigated SSc patients with LSc-like lesions to clarify the underlying pathophysiology. Nine SSc cases complicated with LSc-like lesions were clinically and histologically characterized. SSc patients with LSc-like lesions exhibited multiple progressive hyper- and/or hypo-pigmented plaques with mild sclerosis symmetrically distributed on the trunk and extremities, especially abdominal region. In histological assessment, epidermal IL-1α expression was elevated in both forearms and LSc-like lesions of these patients to a greater extent than in forearms of control patients (SSc patients without LSc-like lesions). Of note, the infiltration and degranulation of mast cells were evident throughout the dermis of LSc-like lesions, while detectable to a lesser extent in forearms of SSc patients with LSc-like lesions and control patients. The epidermis of SSc patients with LSc-like lesions seems to possess an inflammatory phenotype, leading to the activation of mast cells in the dermis of mechanically stressed skin. Köbner phenomenon may be involved in the induction of LSc-like lesions in a certain subset of SSc. Copyright © 2017 Japanese Society for Investigative Dermatology. Published by Elsevier B.V. All rights reserved.

  13. Systemic sclerosis and localized scleroderma--current concepts and novel targets for therapy.

    Science.gov (United States)

    Distler, Oliver; Cozzio, Antonio

    2016-01-01

    Systemic sclerosis (SSc) is a chronic autoimmune disease with a high morbidity and mortality. Skin and organ fibrosis are key manifestations of SSc, for which no generally accepted therapy is available. Thus, there is a high unmet need for novel anti-fibrotic therapeutic strategies in SSc. At the same time, important progress has been made in the identification and characterization of potential molecular targets in fibrotic diseases over the recent years. In this review, we have selected four targeted therapies, which are tested in clinical trials in SSc, for in depths discussion of their preclinical characterization. Soluble guanylate cyclase (sGC) stimulators such as riociguat might target both vascular remodeling and tissue fibrosis. Blockade of interleukin-6 might be particularly promising for early inflammatory stages of SSc. Inhibition of serotonin receptor 2b signaling links platelet activation to tissue fibrosis. Targeting simultaneously multiple key molecules with the multityrosine kinase-inhibitor nintedanib might be a promising approach in complex fibrotic diseases such as SSc, in which many partially independent pathways are activated. Herein, we also give a state of the art overview of the current classification, clinical presentation, diagnostic approach, and treatment options of localized scleroderma. Finally, we discuss whether the novel targeted therapies currently tested in SSc could be used for localized scleroderma.

  14. 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

  15. The role of ultrasound imaging in the evaluation of peripheral nerve in systemic sclerosis (scleroderma)

    Energy Technology Data Exchange (ETDEWEB)

    Tagliafico, Alberto, E-mail: atagliafico@sirm.org [Department of Radiology, University of Genova, Genova (Italy); Panico, Nicoletta [Division of Immunology, Department of Internal Medicine, University of Genoa, Genoa (Italy); Resmini, Eugenia [Department of Endocrinological and Medical Sciences (DiSEM), Center of Excellence for Biomedical Research, University of Genova, Genova (Italy); Derchi, Lorenzo E. [Department of Radiology, University of Genova, Genova (Italy); Ghio, Massimo [Division of Immunology, Department of Internal Medicine, University of Genoa, Genoa (Italy); Martinoli, Carlo [Department of Radiology, University of Genova, Genova (Italy)

    2011-03-15

    Background: Patients affected by scleroderma may complain of sensory disturbances especially in the hands. Purpose: To study the imaging features of upper limb nerves in patients affected by scleroderma (SSc). Materials and method: Twenty-five patients affected only by SSc were prospectively evaluated with high-resolution US and magnetic resonance (MRI) or computer tomography (CT) when necessary (2 patients). Median and ulnar nerves were evaluated bilaterally. Nerve conduction studies were performed in the symptomatic patients (n = 10). Results of imaging studies were correlated with disease duration, autoimmunity and immunosuppression. Nerves of SSc patients were compared with a control group of 90 patients matched for age and body mass index. Results: The prevalence of sensory disturbances revealed by clinical examination was 40%. In symptomatic SSc patients (n = 10) US evaluation revealed nerve abnormalities in 70% of cases (n = 7/10). n = 2 had a carpal tunnel syndrome. n = 5 had cubital tunnel syndrome. In two of them CT and MR were necessary to identify the compressed nerve at the level of the elbow due to the presence of calcifications. There was no association between the presence of an entrapment neuropathy and disease duration, autoantibodies and immunosuppression. Conclusion: Ultrasound, CT and MR may detect nerve abnormalities in 70% of SSc patients complaining of neurologic disturbances in the hands. The results of imaging studies support the hypothesis of a vascular dependent neuropathy in SSc.

  16. Condutividade e teste quantitativo coulométrico na triagem neonatal para fibrose cística

    Directory of Open Access Journals (Sweden)

    Mouseline Torquato Domingos

    2015-12-01

    Full Text Available Resumo Objetivo Comparar os resultados obtidos no teste do suor pelo método da condutividade e a dosagem coulométrica de cloreto no suor em recém0nascidos (RN suspeitos da triagem neonatal para fibrose cística (FC. Métodos O teste do suor foi feito simultaneamente pelos dois métodos em crianças com e sem FC. Os valores de corte para confirmar FC foram na condutividade > 50 mmol/L e no teste coulométrico > 60 mmol/L. Resultados Fizeram o teste do suor por condutividade e dosagem coulométrica simultaneamente 444 RN sem FC (185 do sexo masculino, 234 do feminino e 24 não informado e obtiveram resultado mediano de 32 mmol/L e 12 mmol/L respectivamente. Para os noventa RN com FC os valores medianos de condutividade e dosagem coulométrica foram 108 mmol/L e 97 mmol/L respectivamente. O índice de falso positivo para condutividade foi de 16,7% e em todos os pacientes FC foi superior a 50 mmol/L, o que confere ao método 100% de sensibilidade (IC 95% = 93,8 a 97,8, especificidade de 96,2% (IC 95% = 93,8 a 97,8, valor preditivo positivo 83,3 (IC 95% = 74,4 a 91,1, valor preditivo negativo 100% (IC 95% = 90,5 a 109,4 e acurácia 9,8%. A correlação entre os métodos foi de r = 0,97 (p > 0,001.O melhor valor de corte sugerido foi de 69,0 mmol/L, coeficiente de kappa = 0,89. Conclusão O teste da condutividade apresentou excelente correlação com o quantitativo coulométrico, alta sensibilidade e especificidade e pode ser usado no diagnóstico da FC em crianças detectadas pela triagem neonatal.

  17. Stigma and cystic fibrosis Estigma y fibrosis cística Estigma e fibrose c��stica

    Directory of Open Access Journals (Sweden)

    Tainá Maues Peluci Pizzignacco

    2010-02-01

    Full Text Available Cystic Fibrosis (CF, also known as Mucoviscidosis, is a chronic disease of autosomal recessive origin and so far incurable. This analysis considers some characteristics of patients and family members that indicate it is a stigmatizing disease. The CF stigma’s impact on the lives of children and adolescents can affect treatment adherence, socialization, family relationships and the formation of their life histories, with direct consequences on their quality of life.La fibrosis cística (FC, también conocida como mucoviscidosis, es una enfermedad crónica de origen autosómica recesiva y, hasta el momento, incurable. La presente reflexión presenta consideraciones a respecto de algunas características que acompañan a pacientes y familiares, permitiendo comprenderla como enfermedad que estigmatiza. Las repercusiones del estigma en la vida de niños y adolescentes con FC pueden interferir en la adhesión al tratamiento, en el proceso de socialización, en la relación con los familiares y en la formación de su biografía, con reflejo directo en la calidad de vida.A fibrose cística (FC, também conhecida como mucoviscidose, é doença crônica de origem autossômica recessiva e, até o momento, incurável. A presente reflexão traz considerações a respeito de algumas características que acompanham pacientes e familiares, permitindo compreendê-la como doença estigmatizante. As repercussões do estigma na vida de crianças e adolescentes com FC podem implicar na adesão ao tratamento, no processo de socialização, na relação com os familiares e na formação de sua biografia, com reflexo direto em sua qualidade de vida.

  18. Fibrose cardíaca associada à intoxicação por Amorimia septentrionalis em bovinos

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    Samuel S.C. Albuquerque

    2014-05-01

    Full Text Available Amorimia septentrionalis contém monofluoracetato de sódio e quando consumida por ruminantes provoca morte súbita. Este estudo teve o objetivo de relatar a epidemiologia, os sinais clínicos e patológicos de surtos de morte súbita em bovinos provocadas por Amorimia septentrionalis nos Estados de Pernambuco e Paraíba. Para isso, realizaram-se visitas técnicas em diversas propriedades nas Microrregiões do Médio Capibaribe/PE e Itabaiana/PB. Oito bovinos foram necropsiados. Coletaram-se tecidos das cavidades abdominal e torácica, além do encéfalo e medula espinhal. As alterações clínicas consistiram em lentidão, decúbito esternal prolongado, relutância em se movimentar quando em estação, cansaço, taquipneia, taquicardia e pulso venoso positivo. Os bovinos que foram forçados a se movimentar apresentaram instabilidade, tremores musculares e queda repentina seguida de vocalizações, movimentos de pedalagem e morte súbita em cerca de 5 a 7 minutos. As principais alterações macroscópicas consistiram em edema pulmonar, coração com aspecto globular com áreas esbranquiçadas, petéquias e equimoses no epicárdio, miocárdio e músculos papilares. À microscopia observou-se aumento da eosinofilia do citoplasma dos cardiomiócitos, núcleos picnóticos, cariorrexia, cariólise, perda das estriações, edema intersticial, infiltrado inflamatório intersticial mononuclear e áreas multifocais de fibrose cardíaca. Nos rins, constatou-se degeneração hidrópico vacuolar e necrose das células epiteliais em túbulos contorcidos. Os sinais clínicos foram semelhantes aos sinais clínicos já descritos em bovinos por plantas que contém MFA. As lesões macro e microscópicas descritas no coração e rins são de grande valor diagnóstico. A. septentrionalis é a principal planta tóxica de interesse pecuário nas microrregiões do Médio Capibaribe e Itabaiana devido às perdas econômicas diretas e indiretas que provoca na pecu

  19. Fibrose Cística: Análise da Coorte de 10 Anos de um Programa para Adultos

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    Paulo de Tarso Roth Dalcin

    2011-07-01

    Full Text Available Introdução: A fibrose cística (FC que já foi considerada doença da criança é agora doença do adulto e requer programa para adultos. Objetivo: definir características clínicas de uma coorte de 10 anos de um programa para adultos com FC e determinar as características associadas com desfechos clínicos. Métodos: coorte retrospectiva de pacientes com FC (idade ≥ 10 anos atendida pelo Programa para Adultos do Hospital de Clínicas de Porto Alegre, de outubro de 1998 a outubro de 2008. Foram coletados dados demográficos, dados clínicos, status nutricional, função pulmonar, testes laboratoriais e microbiologia do escarro. Foram definidos como desfechos clínicos: sobrevivência, sobrevivência com transplante pulmonar e óbito. Resultados: foram atendidos 94 pacientes pelo programa para adultos. A média de idade foi 24,0±7,4 anos e a média do volume expiratório forçado no primeiro segundo (VEF1 foi 56,4±28,8%. Setenta e sete pacientes foram sobreviventes, 6 sobreviventes com transplante pulmonar e 11 morreram. Na análise univariada, etnia caucasiana (p=0,016, mutação F508del (p=0,04, escore clínico (p<0,001, índice de massa corporal (p<0,001,  oxigenoterapia (p<0,001, capacidade vital forçada (p=0,023 e VEF1 (p<0,001 se associaram com os desfechos clínicos. A análise de regressão logística identificou fatores associados com desfecho precário: VEF1 (RC=0,.72, ICI=0,54-0,94, p=0,017 e escore clínico  (RC = 0,70, IC=0,50-0,97, p = 0,034. Insuficiência respiratória crônica exacerbada por infecção respiratória aguda foi causa imediata de morte na maioria dos casos. Conclusão: Este estudo descreveu uma coorte de 94 pacientes com FC atendidos por um programa de adultos. VEF1 e escore clinico se associaram com os desfechos clínicos.

  20. Fibrose cística no adulto: aspectos diagnósticos e terapêuticos Cystic fibrosis in adults: diagnostic and therapeutic aspects

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    Paulo de Tarso Roth Dalcin

    2008-02-01

    Full Text Available A fibrose cística, que já foi considerada uma doença da infância, é agora também uma doença do adulto. O aumento da longevidade resultou em mais problemas médicos relacionados com a idade e com a própria doença. O crescente número de adultos com fibrose cística resultou em aumento da necessidade de cuidados médicos. Essa necessidade tem sido suprida por um crescente número de pneumologistas de adultos e outros especialistas. O objetivo dessa revisão é sumarizar o conhecimento corrente sobre o diagnóstico e tratamento no adulto com fibrose cística. Na maioria dos casos, o diagnóstico é sugerido por manifestações de doença sinopulmonar crônica e insuficiência pancreática exócrina, e, então, confirmado por um teste do suor positivo. Pacientes adultos podem, entretanto, apresentar suficiência pancreática e características clínicas atípicas, às vezes, associadas com teste do suor normal ou limítrofe. Em tais casos, a possibilidade de realizar pesquisa de mutações para fibrose cística e de medir a diferença de potencial nasal pode ser de utilidade diagnóstica. A abordagem terapêutica padrão para a doença pulmonar inclui: antibióticos, higiene das vias aéreas, exercício, mucolíticos, broncodilatadores, oxigênio, agentes anti-inflamatórios e suporte nutricional. A utilização adequada dessas terapias resulta em mais pacientes com fibrose cística sobrevivendo na vida adulta com uma aceitável qualidade de vida.Once considered a childhood disease, cystic fibrosis is now also a disease of adults. Increased longevity has resulted in the aging of the cystic fibrosis population. The consequent age-related medical problems among adults with cystic fibrosis have increased medical care needs. These needs are being met by a growing number of non-pediatric pulmonologists and other non-pediatric specialists. The objective of this review was to summarize the current knowledge about diagnosis and treatment in adult

  1. Myocardial function and perfusion in the CREST syndrome variant of progressive systemic sclerosis. Exercise radionuclide evaluation and comparison with diffuse scleroderma

    International Nuclear Information System (INIS)

    Follansbee, W.P.; Curtiss, E.I.; Medsger, T.A. Jr.; Owens, G.R.; Steen, V.D.; Rodnan, G.P.

    1984-01-01

    Myocardial function and perfusion were evaluated in 22 patients with progressive systemic sclerosis with the CREST syndrome using exercise and radionuclide techniques, pulmonary function testing, and chest roentgenography. The results were compared with a similar study of 26 patients with progressive systemic sclerosis with diffuse scleroderma. The prevalence of thallium perfusion abnormalities was similar in the groups with CREST syndrome and diffuse scleroderma, (64 percent versus 77 percent), but the defects were significantly smaller in the CREST syndrome (p less than 0.01). Reperfusion thallium defects in the absence of extramural coronary artery disease were seen in 38 percent of patients with diffuse scleroderma. This finding was not seen in any of the patients with the CREST syndrome. In diffuse scleroderma, abnormalities of both right and left ventricular function were related to larger thallium perfusion defects. In the CREST syndrome, abnormalities of left ventricular function were minor, were seen only during exercise, and were unrelated to thallium perfusion defects. Abnormal resting right ventricular function was seen in 36 percent of the patients with the CREST syndrome and was associated with an isolated decrease in diffusing capacity of carbon monoxide. It is concluded that the cardiac manifestations of the CREST syndrome are distinct from those found in diffuse scleroderma. Unlike diffuse scleroderma, abnormalities of left ventricular function in the CREST syndrome are minor and are unrelated to abnormalities of coronary perfusion. Right ventricular dysfunction in the CREST syndrome appears to be primarily related to pulmonary vascular disease

  2. Lichen sclerosus et atrophicans, scleroderma en coup de sabre and Lyme borreliosis

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    Serena Bonin

    2011-09-01

    Full Text Available Lichen sclerosus et atrophicans (LSA is a chronic, inflammatory skin disease of unknown etiology, characterized by atrophy. We report a case of LSA with frontoparietal distribution, mimicking scleroderma en coup de sabre, causing scarring alopecia. The case was associated with Borrelia infection. The lesion improved with 2 cycles of antibiotic therapy with ceftriaxone 2 gr /day i.v for 21 days associated with UVA-1 therapy and local and systemic vitamin E supply (400 mg 2x/day per os for 3 months. This case stresses the importance of identifying clinical manifestations associated with Lyme disease and the use of tissue PCR to detect borrelial DNA in patients with these lesions, but characterized by negative serology for Borrelia.

  3. Do scleroderma patients look young?: Evaluation by using facial imaging system.

    Science.gov (United States)

    Sawamura, Soichiro; Jinnin, Masatoshi; Kajihara, Ikko; Makino, Katsunari; Aoi, Jun; Ichihara, Asako; Makino, Takamitsu; Fukushima, Satoshi; Ihn, Hironobu

    2017-01-01

    These days various collagen supplements have widely been marketed. However, it has not been scientifically proved whether increasing collagen can actually prevent skin aging. Systemic sclerosis (SSc) is an autoimmune disease that is characterized by thickening of the skin caused by accumulation of collagen. In this study, we tried to evaluate facial skin characteristics and skin aging of SSc patients by using digital imaging system. As the result, the severity of wrinkles, texture and pores were significantly lower in SSc patients than control subjects. Among them, wrinkles showed better correlation with skin thickness score. Therefore, increased amount of collagen in scleroderma skin may directly affect wrinkles. In conclusion, attempt on collagen induction itself is reasonable and effective strategy in order to keep young appearance, although oral collagen supplementation may not directly reach to the skin.

  4. Microcirculatory disorders in scleroderma systematica: an association with vascular wall stiffness

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    Ulyana Yuryevna Ruzhentsova

    2013-01-01

    Full Text Available Objective: to study the specific features of regulation of peripheral vascular tone and their association with the endothelial structure and function of large vessels in patients with scleroderma systematica (SDS. Subjects and methods. The investigation enrolled 25 patients with SDS (mean age, 47±2.6 years; mean disease duration, 8.3+1.7 years and 15 apparently healthy individuals matched for age and gender. Comprehensive examination involved laboratory and instrumental studies, laser Doppler study to evaluate endothelium-dependent and endothelium-independent vasodilation, as well as applanation tonometry calculating the pulse wave velocity and augmentation index. Results. All the patients were found to have impaired peripheral vascular responsiveness as compared to the controls. The examination established a relationship between the magnitude of endothelium-dependent vasodilation and the stiffness index of large vessels. There was no association between endothelium-independent vasodilation and vascular elasticity parameters.

  5. The expression of myocardial injury in cold induced myocardial imaging and echocardiography of systematic scleroderma

    International Nuclear Information System (INIS)

    Liang Jiugen; Zhu Xiaojun; Jiang Ningyi; Chen Shaoxiong

    1999-01-01

    The study was performed with cold-induced 99m Tc(MIBI) myocardial imaging (MI) in 23 patients with systematic scleroderma. The left ventricular function and wall motion were also observed by dimensional echocardiography (UCG). 14 patients had myocardial perfusion abnormalities visualized by MI, including 5 cases with fixed defects of 9 segments, 3 cases with reversible defects of 6 segments and 6 cases with both fixed and reversible one of 14 segments. The positive rate in myocardial imaging had no significant differences between patients with and without Raynaud's phenomenon (0.5>P>0.25). Compared with baseline, the ejection fraction, stroke volume, cardiac output were significantly decreased during cold-induced in patients with abnormal myocardial scintigraphy (P<0.05), and had significant difference compared with normal group (P<0.05). 4 cases with cold-induced reversible perfusion defects had anatomically correlated regional ventricular hypokinesia in UCG

  6. Scleroderma keratinocytes promote fibroblast activation independent of transforming growth factor beta.

    Science.gov (United States)

    McCoy, Sara S; Reed, Tamra J; Berthier, Celine C; Tsou, Pei-Suen; Liu, Jianhua; Gudjonsson, Johann E; Khanna, Dinesh; Kahlenberg, J Michelle

    2017-11-01

    SSc is a devastating disease that results in fibrosis of the skin and other organs. Fibroblasts are a key driver of the fibrotic process through deposition of extracellular matrix. The mechanisms by which fibroblasts are induced to become pro-fibrotic remain unclear. Thus, we examined the ability of SSc keratinocytes to promote fibroblast activation and the source of this effect. Keratinocytes were isolated from skin biopsies of 9 lcSSc, 10 dcSSc and 13 control patients. Conditioned media was saved from the cultures. Normal fresh primary fibroblasts were exposed to healthy control and SSc keratinocyte conditioned media in the presence or absence of neutralizing antibodies for TGF-β. Gene expression was assessed by microarrays and real-time PCR. Immunocytochemistry was performed for α-smooth muscle actin (α-SMA), collagen type 1 (COL1A1) and CCL5 expression. SSc keratinocyte conditioned media promoted fibroblast activation, characterized by increased α-SMA and COL1A1 mRNA and protein expression. This effect was independent of TGF-β. Microarray analysis identified upregulation of nuclear factor κB (NF-κB) and downregulation of peroxisome proliferator-activated receptor γ (PPAR-γ) pathways in both SSc subtypes. Scleroderma keratinocytes exhibited increased expression of NF-κB-regulated cytokines and chemokines and lesional skin staining confirmed upregulation of CCL5 in basal keratinocytes. Scleroderma keratinocytes promote the activation of fibroblasts in a TGF-β-independent manner and demonstrate an imbalance in NF-κB1 and PPAR-γ expression leading to increased cytokine and CCL5 production. Further study of keratinocyte mediators of fibrosis, including CCL5, may provide novel targets for skin fibrosis therapy. © 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

  7. [Clinical, endoscopic and morphological manifestations of oesophageal lesion in systemic scleroderma].

    Science.gov (United States)

    Karateev, A E; Movsiian, A E; Anan'eva, M M; Radenska-Lopovok, S G

    2014-01-01

    Oesophageal lesion is the commonest visceral manifestation of systemic scleroderma (SSD) affecting the quality of life and fraught with serious complications. The aim of this study was to evaluate clinical, endoscopic andmorphological manifestations of oesophageal lesion in systemic scleroderma and its relationships with other clinical symptoms and pharmacotherapy of the disease. 479 patients with SSD (93.7% women, 6.3% men, mean age 48.7 +/- 19.2 yr). All of them underwent EGDS in 2005-2010. 123 patients were examined for the detection of Barrett's oesophagus (BO), total screening regardless of complaints was conducted in 2010. Control group included 1018 age and sex-matched patients with RA who underwent EGDS in 2008-2009. Oesophageal lesions occurred much more frequently in SSD than in RA. Oesophageal symptoms were documented in 70.0 and 29.9% cases, non-erosive oesopahgitis in 28.8 and 1.5%, erosive esophagitis in 22.5 and 2.2% ulcers in 0.8 and 0% (p < 0.001). BO manifested as intestinal metaplasia (histological study of mucosal biopsy) was found in 30 SSD patients (4.2%). Screening revealed BO in 8.9% of the patients. The development of erosive oesophagitis was unrelated to the age of the patients, duration of the disease and its form (localized or diffusive), lung pathology or Sjogren's syndrome. Cytotoxic medicines significantly increased the frequency of erosive oesophagitis, it tended to increase under effect of NSAID and low doses of aspirin. Long-term intake of PPI did not reduce the risk of oesophagitis and BO. Half of the patients with SSD have oesophagitis. Over 20% of them suffer its complications (erosion and ulcers) and 9% have BO. All such patients need endoscopic study ofoesophagus regardless of clinical symptoms.

  8. Republished: Fibrosing organising pneumonia.

    Science.gov (United States)

    Beardsley, Brooke; Rassl, Doris

    2014-08-01

    Organising pneumonia (otherwise referred to as bronchiolitis obliterans organising pneumonia) is characterised histologically by plugs of granulation tissue, which are present predominantly within small airways, alveolar ducts and peri-bronchiolar alveoli. This pattern is not specific for any disorder or cause, but is one type of inflammatory response to pulmonary injury, which may be seen in a wide variety of clinical conditions. Typically, organising pneumonia responds very well to corticosteroid treatment; however, a small percentage of patients appear to develop progressive fibrosis. 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.

  9. Fibrosing organising pneumonia.

    Science.gov (United States)

    Beardsley, Brooke; Rassl, Doris

    2013-10-01

    Organising pneumonia (otherwise referred to as bronchiolitis obliterans organising pneumonia) is characterised histologically by plugs of granulation tissue, which are present predominantly within small airways, alveolar ducts and peri-bronchiolar alveoli. This pattern is not specific for any disorder or cause, but is one type of inflammatory response to pulmonary injury, which may be seen in a wide variety of clinical conditions. Typically, organising pneumonia responds very well to corticosteroid treatment; however, a small percentage of patients appear to develop progressive fibrosis.

  10. Acroqueratodermia aquagénica associada a uma mutação do gene da fibrose quística

    Directory of Open Access Journals (Sweden)

    V. Coelho-Macias

    2013-05-01

    Full Text Available Resumo: Descrita em 1996, a acroqueratodermia aquagénica é uma entidade rara, caracterizada pelo aparecimento de pápulas edematosas palmares após contacto com água. Múltiplas associações foram enumeradas mas, recentemente, a associação a mutações do gene da fibrose quística foi demonstrada.Descreve-se o caso de uma mulher de 18 anos, saudável, com prurido e edema palmar após imersão em água. O exame objetivo inicial não mostrava alterações mas, 5 min após imersão em água, observavam-se múltiplas pápulas esbranquiçadas palmares. O estudo do gene da fibrose quística (CFTR revelou uma mutação F508del num dos alelos. A doente negava outras queixas ou história familiar relevante.A acroqueratodermia aquagénica é uma entidade provavelmente subdiagnosticada que poderá constituir uma manifestação de mutações do gene CFTR, o que possibilitaria a identificação de portadores e aconselhamento genético. Abstract: Reported for the first time in 1996, aquagenic keratoderma is a rare condition which is characterized by edematous flat-topped papules appearing on palmar skin after water immersion. Multiple anecdotal associations have been described but, recently, the association with cystic fibrosis gene mutations (CFTR has been highlighted.The authors describe an 18 year-old female, with one-month complaints of pruritus and swelling of palmar skin after water immersion. On examination, palmar skin was unremarkable but, 5 minutes after water immersion, multiple whitish papules became apparent. CFTR genotype study showed a F508del mutation in one alelle. She had no other symptoms and no relevant family history.Aquagenic keratoderma is probably an under-diagnosed entity that might represent a manifestation of CFTR mutations, making carrier state identification and genetic counseling possible. Palavras-chave: Acroqueratodermia aquagénica, Fibrose quística, Aconselhamento genético, Keywords: Aquagenic keratoderma, Cystic

  11. Achados histológicos e sobrevida na fibrose pulmonar idiopática Histological features and survival in idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Ester Nei Aparecida Martins Coletta

    2003-12-01

    Full Text Available INTRODUÇÃO: A fibrose pulmonar idiopática foi recentemente redefinida como pneumonia intersticial usual de etiologia desconhecida. O valor prognóstico dos achados histológicos deve ser reavaliado. OBJETIVO: Neste estudo foram correlacionados os achados histológicos e alguns dados clínicos e funcionais (duração dos sintomas, capacidade vital forçada, idade, sexo, hábito de fumar com a sobrevida. MÉTODO: Foram estudados 51 pacientes portadores de fibrose pulmonar idiopática. A média de idade foi de 66 ± 8 anos. Vinte e um pacientes eram do sexo feminino; 26 eram fumantes ou ex-fumantes. Todos apresentavam quadro de pneumonia intersticial usual na histologia. Grau de faveolamento, fibrose estabelecida, descamação, celularidade, espessamento vascular miointimal e focos fibroblásticos foram graduados por método semiquantitativo. RESULTADOS: A mediana do tempo de sintomas foi de 12 meses e a capacidade vital forçada inicial foi de 72 ± 21%. Por análise de risco proporcional de Cox, a sobrevida correlacionou-se, de maneira significativa (p BACKGROUND: Idiopathic pulmonary fibrosis was recently redefined as usual interstitial pneumonia of unknown etiology. Consequently, the prognostic value of histological findings needs to be reassessed. OBJECTIVE: To correlate clinical, functional and histological findings with survival in patients with idiopathic pulmonary fibrosis. METHOD: Patients (n = 51; mean age: 66 ± 8 years; gender: 21 females/30 males were evaluated. Of the 51, 26 were smokers or ex-smokers. Duration of symptoms, forced vital capacity and smoking habits were recorded. All patients presented usual interstitial pneumonia verified through histology. Degree of honeycombing, established fibrosis, desquamation, cellularity, myointimal thickening of blood vessels and number of fibroblastic foci were graded according to the semiquantitative method. RESULTS: Median duration of symptoms was 12 months and initial forced vital

  12. Anti-neutrophil cytoplasmic antibody negative crescentic paucimmune glomerulonephritis in a case of scleroderma with systemic lupus erythematosus overlap

    Directory of Open Access Journals (Sweden)

    Rohit Tewari

    2016-01-01

    Full Text Available Renal Involvement in scleroderma is a known problem and the manifestations are well described. Renal involvement in systemic lupus erythematosus (SLE is also well known. However, in scleroderma and SLE overlap syndrome, the renal findings may vary being a combination of features of immune complex mediated glomerulonephritis as well as thrombotic microangiopathy. We report a case in which the renal manifestation in such a situation was of a focal necrotising pauci-immune glomerulonephritis with crescents, anti-neutrophil cytoplasmic antibody negative. To the best of our knowledge, such manifestations have not been described before. Renal dysfunction in a normotensive setting in such a case should direct one towards evaluation for other causes and should prompt a kidney biopsy. This would be valuable in delineating the pathological process in the kidney and would help in guiding therapy.

  13. Fatores prognósticos em fibrose pulmonar idiopática Prognostic factors in idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    ADALBERTO SPERB RUBIN

    2000-09-01

    Full Text Available Com o objetivo de avaliar quais fatores prognósticos são significativos na sobrevida de pacientes com fibrose pulmonar idiopática (FPI, foram estudados 117 casos com comprovação histológica da doença, internados no Pavilhão Pereira Filho entre 1970 e 1996. Todos os pacientes realizaram radiologia convencional de tórax, espirometria e preencheram um questionário padronizado no momento da internação. Foram também realizados medida da difusão (34 casos, capacidade pulmonar total (28, gasometria (106, lavado broncoalveolar (39, provas reumatismais (45 e tomografia computadorizada de tórax (24. Para uma análise mais específica, os pacientes foram dividos em dois grupos: grupo A (sobrevida até dois anos - 55 pacientes e grupo B (sobrevida maior que cinco anos - 24 pacientes, sendo estas características também analisadas de acordo com a significância em relação à sobrevida. Foram considerados fatores indicativos de pior prognóstico a idade avançada, a duração prolongada de sintomas, a gravidade da dispnéia, a redução da CVF, da DCO, da PaO2 e da SaO2, a intensidade do faveolamento e o grau de profusão do padrão reticular na TCAR. Estiveram também associados à menor sobrevida os valores menores de VEF1 e CPT. A utilização destes critérios de gravidade que apresentaram significância estatística, quando utilizados em conjunto, pode determinar uma avaliação prognóstica mais apurada em pacientes portadores de FPI, com implicações terapêuticas e sociais relevantes para seu manejo e acompanhamento.In order to evaluate which prognostic factors were significant to the survival of patients with idiopathic pulmonary fibrosis (IPF, 121 histologically confirmed cases of the disease were studied at the Pereira Filho Hospital from 1970 to 1996. All patients were submitted to a standard thorax X-ray and spirometry and answered a standardized questionnaire when admitted to hospital. They also underwent diffusion tests (34

  14. [Comparative analysis of the semiotics of disseminated pulmonary tuberculosis and exogenous allergic alveolitis in accordance with the data of computed tomography].

    Science.gov (United States)

    Amansakhedov, R B; Limarova, I V; Perfiliev, A V; Abdullaev, R Yu; Sigaev, A T; Ergeshov, A E

    2016-01-01

    to improve the differential diagnosis of disseminated pulmonary tuberculosis (DPT) and exogenous allergic alveolitis (EAA) via comparative investigation of their computed tomography (CT) semiotics and identification of the most informative diagnostic criteria. 70 patients, including 40 patients with DPT in a phase of infiltration and 30 patients with acute EAA, were studied using a Somatom Emotion 16 multi-slice spiral CT scanner (Siemens). All the patients underwent spiral scanning from the upper chest aperture to the costodiaphragmatic recesses with a high CT algorithm at 0.8-mm slice thickness and a 1.5-mm step. Analysis of the spread of dissemination foci established that pathological changes were peribronchovascularly located in both nosological entities and characterized by a preponderance of septal and intrabronchial locations in DPT and by a centrilobular distribution in EAA. Centrilobular foci were more commonly poorly defined in EAA and mixed foci were observed in DPT. In the latter, peribronchovascular, centrilobular foci were revealed at a distance from the visceral pleura (the boundary of the deep and superficial lymphatic network, respectively) in 38% and more than half of the cases (62%) with the involvement of the visceral and parietal pleura; in EAA, the centrilobular foci were more often combined with the involvement of the visceral pleura in more than 92% of cases. The tree-in-bud sign was significantly more common in DPT. The latter was mostly characterized by apicocaudal regression of dissemination. In EAA, the foci were more frequently located asymmetrically. Monomorphic foci with destruction, as well as their polymorphism were seen in DPT; those without destruction were predominantly observed in EAA. CT ground glass and mosaic perfusion syndromes were significantly more often in EAA. In DPT, the visceral and parietal pleuras were involved in the process in 62% of cases and changes were also more common in the extrapleural fat. In addition to

  15. Cardiovascular assessment of asymptomatic patients with juvenile-onset localized and systemic scleroderma: 10 years prospective observation.

    Science.gov (United States)

    Borowiec, A; Dabrowski, R; Wozniak, J; Jasek, S; Chwyczko, T; Kowalik, I; Musiej-Nowakowska, E; Szwed, H

    2012-02-01

    The aim of the present study was non-invasive evaluation of the cardiovascular system in asymptomatic young adult patients with juvenile localized scleroderma (JLS) and juvenile systemic sclerosis (JSS). A group of 34 consecutive children with scleroderma were prospectively observed in the study. The control group (CG) consisted of 20 healthy subjects. In each subject 12-lead electrocardiographic, echocardiographic, ECG Holter, and ambulatory blood pressure monitoring examinations were performed at the baseline visit and after 10 years. Additionally, B-type natriuretic peptide (BNP) concentrations were measured after 10 years. Examinations were performed in 13 patients with JLS and 15 with JSS at the final visit. Two children had died (one from each group). Four patients were alive but refused the final visit. After 10 years, a higher prevalence of ventricular extrasystoles (p = 0.01) and an elevated pulmonary arterial pressure (JLS: p = 0.04, JSS: p = 0.03) were observed in both groups, but in comparison with the controls there was no significant difference at the final visit. In JLS patients more cases of left ventricle diastolic dysfunction, hypertension, and sinus tachycardia were diagnosed at the final visit (p ≤ 0.05). More atrioventricular block episodes in both groups of scleroderma patients were observed. Over the 10 years, arterial hypertension was diagnosed in three patients from the JLS group and in two with JSS. There were no significant differences in BNP concentrations at the final visit. The results of the present study show that juvenile scleroderma seems to be more benign than adult-onset disease. This observational study shows subclinical, not severe, cardiac abnormalities in adult patients with juvenile-onset disease.

  16. Successful combination treatment of a patient with progressive juvenile localized scleroderma (morphea) using imatinib, corticosteroids, and methotrexate.

    Science.gov (United States)

    Inamo, Yasuji; Ochiai, Toyoko

    2013-01-01

    We report a case of progressive juvenile localized scleroderma (JLS or morphea) treated with a combination of imatinib, corticosteroids, and methotrexate. This therapy halted the progressive skin thickening and the hand and finger joint deformity in the early stages of the disease. We conclude that imatinib used in addition to standard treatment with systemic corticosteroids and methotrexate may be of therapeutic benefit for individuals with JLS. © 2012 Wiley Periodicals, Inc.

  17. Estado nutricional e distribuição de gordura corporal em crianças e adolescentes com Fibrose Cística

    Directory of Open Access Journals (Sweden)

    Célia Regina Moutinho de Miranda Chaves

    2015-11-01

    Full Text Available O objetivo deste estudo é avaliar o estado nutricional e a distribuição da gordura corporal em crianças e adolescentes com fibrose cística. Foram realizadas avaliação da distribuição de gordura corporal por meio da absorciometria de duplo feixe de energia, do estado nutricional por estatura/idade e índice de massa corporal/idade e a ingestão dietética pelo recordatório alimentar de 24horas, em 56 pacientes com idade entre 8 e 18 anos. Aproximadamente 50% da amostra apresentou estado nutricional adequado. A maioria apresentou a ingestão calórica e de lipídios inadequadas. O IMC/I foi o indicador nutricional que melhor evidenciou o aumento do percentual de gordura do tronco, razão androide/ginecoide e razão gordura tronco/gordura total. Os pacientes com Insuficiência Pancreática e os eutróficos apresentaram razão mediana androide/ginecoide maior. O aumento da adiposidade abdominal foi evidenciado pela DXA. O IMC/I não identificou a diminuição da massa magra corporal, mas quando aumentado foi significativo para adiposidade abdominal. Pacientes com fibrose cística devem associar a avaliação antropométrica à composição corporal e à distribuição de gordura corporal para um diagnóstico mais precoce de desnutrição e fatores de risco cardiometabólico.

  18. Juvenile Scleroderma

    Science.gov (United States)

    ... of the tongue. Obvious cases of en coup de sabre and Parry Romberg syndrome differ significantly, but many children present with cross-over manifestations, which can make it difficult to determine with certainty which form of ... en coup de sabre is mixed. If the lesions are confined ...

  19. Radiotherapy of early breast cancer in scleroderma patients: our experience with four cases and a short review of the literature

    Directory of Open Access Journals (Sweden)

    Kyrgias G

    2012-01-01

    Full Text Available George Kyrgias1,2, Kiki Theodorou3,4, Anna Zygogianni1, Konstantinos Tsanadis2, Stefanos Zervoudis5, John Tzitzikas6, Michael Koukourakis71Academic Radiotherapy, University of Thessaly, Medical School, Greece; 2Radiation Oncology Department, University Hospital of Larissa, Greece; 3Academic Medical Physics, University of Thessaly, Medical School, Greece; 4Medical Physics Department, University Hospital of Larissa, 5Breast Unit, REA Hospital, Athens, Greece; 6Radiation Oncology Department, AHEPA University Hospital of Thessaloniki, Greece; 7Radiotherapy-Oncology Department, University Hospital of Alexandroupolis, GreecePurpose: Connective vascular diseases (CVD, including scleroderma, are reported to represent for some researchers a relative contraindication and for others absolute contraindication for radiotherapy. The purpose of our study is to add four new cases to the existing body of international literature and to determine whether women with pre-existing scleroderma who have been surgically treated for early breast cancer could undergo postsurgical radiotherapy without serious early and late complications.Patients and methods: From May 1998 to November 2010, we irradiated for early breast cancer four patients suffering from pre-existing scleroderma; after conservative surgery, we performed whole breast postoperative radiotherapy of 50.4 Gy total dose to the whole breast plus a 9 Gy boost to the tumor bed. We reviewed the records of all four patients and evaluated the early and late reactions using acute radiation morbidity scoring criteria (Radiation Therapy Oncology Group [RTOG], American College of Radiology, Philadelphia, PA and late radiation morbidity scoring scheme (European Organisation for Research and Treatment of Cancer [EORTC], Brussels, Belgium and RTOG.Results: After a median follow-up of 105 months (range 12–155 months the early and late toxicity concerning the skin, the subcutaneous tissues, the lungs, and the heart have

  20. Autoantibodies in scleroderma and their association with the clinical profile of the disease. A study of 66 patients from southern Brazil.

    Science.gov (United States)

    Skare, Thelma Larocca; Fonseca, Adriano Erlon; Luciano, Alan Campos; Azevedo, Pedro Ming

    2011-01-01

    Scleroderma is a fairly rare connective tissue disease whose autoantibody profile is associated with different clinical manifestations. The prevalence of autoantibodies in scleroderma is influenced by race and genetics. To study the prevalence of anti-Scl-70, anti-centromere (ACA) and anti-U1-RNP antibodies in patients with scleroderma in southern Brazil and verify their association with clinical manifestations of the disease. A retrospective study involving 66 patients with scleroderma for the presence of anti-Scl-70, anti-centromere and anti-U1-RNP and of clinical manifestations such as Raynaud's phenomenon, digital micro scars, digital necrosis, telangiectasias, calcinosis, pulmonary fibrosis, pleuritis, pericarditis, cardiomyopathy, arthralgia and arthritis, skin sclerosis, joint contractures, tendon friction rubs, pulmonary hypertension, esophageal disorders and renal crisis. The prevalence of anti-Scl-70 was 17.8% , that of ACA was 33.3% and the prevalence of U1 RNP was 11.8%. Anti-Scl-70 was associated with the diffuse form of the disease (p = 0.015), presence of cardiomyopathies (p = 0.016) and digital micro scars (p = 0.05). Anti-centromere was more common in the limited form, although it was not statistically significant, and had a protective role associated with cardiomyopathies (p = 0.005). Anti-U1-RNP was more common in the overlap forms (p = 0.0004). The prevalence and profile of clinical associations of autoantibodies in Brazilian patients with scleroderma are similar to those found in the literature.

  1. The thickness of the A1 pulleys reflects the disability of hand mobility in scleroderma. A pilot study using high-frequency ultrasound

    Energy Technology Data Exchange (ETDEWEB)

    Tagliafico, Alberto, E-mail: atagliafico@sirm.org [Department of Radiology, National Institute for Cancer Research, Genova (Italy); Panico, Nicoletta [Division of Immunology, Department of Internal Medicine, University of Genova, Genova (Italy); Serafini, Giovanni [Department of Radiology, Santa Corona Hospital, Pietra Ligure (Italy); Ghio, Massimo [Division of Immunology, Department of Internal Medicine, University of Genova, Genova (Italy); Martinoli, Carlo [Department of Radiology, University of Genova, Genova (Italy)

    2011-02-15

    Background: Hand involvement in scleroderma is a serious concern. Clinical tests to asses hand dysfunction are based on the experience of the clinician. Objective: To asses if utrasonographic (US) measurement of A1 pulley thickness may be used as an indicator of hand mobility in scleroderma. Materials and methods: Institutional review board approval and patient informed consent was obtained. Twenty-eight patients affected suffering from scleroderma and 40 healthy controls were prospectively evaluated by two blinded radiologists with US, with a transducer operating at 17 MHz. A1 pulley thickness was measured and correlated with the Hand Mobility in Scleroderma Test (HAMIS) and disease duration. Results: The thickness of the A1 pulley was greater in sclerodermic patients than in controls (p < 0.05). Intra and inter-observer agreement were better for ultrasound (0.94;0.88) than for HAMIS tests (0.71;0.70). A good correlation between pulley thickness, hand mobility and disease duration was found (r = 0.78, p < 0.018; r = 0.54, p < 0.05). Conclusion: A1 pulley thickness measured on ultrasound correlates with hand mobility and disease duration. Ultrasound is an useful tool to evaluate hand disability in scleroderma.

  2. The thickness of the A1 pulleys reflects the disability of hand mobility in scleroderma. A pilot study using high-frequency ultrasound

    International Nuclear Information System (INIS)

    Tagliafico, Alberto; Panico, Nicoletta; Serafini, Giovanni; Ghio, Massimo; Martinoli, Carlo

    2011-01-01

    Background: Hand involvement in scleroderma is a serious concern. Clinical tests to asses hand dysfunction are based on the experience of the clinician. Objective: To asses if utrasonographic (US) measurement of A1 pulley thickness may be used as an indicator of hand mobility in scleroderma. Materials and methods: Institutional review board approval and patient informed consent was obtained. Twenty-eight patients affected suffering from scleroderma and 40 healthy controls were prospectively evaluated by two blinded radiologists with US, with a transducer operating at 17 MHz. A1 pulley thickness was measured and correlated with the Hand Mobility in Scleroderma Test (HAMIS) and disease duration. Results: The thickness of the A1 pulley was greater in sclerodermic patients than in controls (p < 0.05). Intra and inter-observer agreement were better for ultrasound (0.94;0.88) than for HAMIS tests (0.71;0.70). A good correlation between pulley thickness, hand mobility and disease duration was found (r = 0.78, p < 0.018; r = 0.54, p < 0.05). Conclusion: A1 pulley thickness measured on ultrasound correlates with hand mobility and disease duration. Ultrasound is an useful tool to evaluate hand disability in scleroderma.

  3. Antifibrotic effects of crocetin in scleroderma fibroblasts and in bleomycin-induced sclerotic mice

    Directory of Open Access Journals (Sweden)

    Yinghua Song

    2013-10-01

    Full Text Available OBJECTIVE: To investigate the antifibrotic effects of crocetin in scleroderma fibroblasts and in sclerotic mice. METHODS: Skin fibroblasts that were isolated from three systemic scleroderma (SSc patients and three healthy subjects were treated with crocetin (0.1, 1 or 10 μM. Cell proliferation was measured with an MTT assay. Alpha-smooth muscle actin was detected via an immunohistochemical method. Alpha 1 (I procollagen (COL1A1, alpha 1 (III procollagen (COL3A1, matrix metalloproteinase (MMP-1 and tissue inhibitor of matrix metalloproteinase (TIMP-1 mRNA levels were measured using real-time PCR. SSc mice were established by the subcutaneous injection of bleomycin. Crocetin (50 mg/kg/d was injected intraperitoneally for 14 days. Dermal thickness and lung fibrosis were assessed with Masson's trichrome staining. Plasma ET-1 was detected with an enzyme-linked immunosorbent assay (ELISA. Skin and lung ET-1 and COL1A1 mRNA levels were measured via real-time PCR. RESULTS: Crocetin inhibited the proliferation of SSc and normal fibroblasts, an effect that increased with crocetin concentration and incubation time. Crocetin decreased the expression of α-SMA and the levels of mRNA for COL1A1, COL3A1 and matrix metalloproteinase-1, while crocetin increased TIMP-1 mRNA levels in both SSc and normal fibroblasts. Skin and lung fibrosis was induced, and the levels of ET-1 in the plasma, skin and lungs were elevated in bleomycin-injected mice. Crocetin alleviated the thickening of the dermis and lung fibrosis; decreased COL1A1 mRNA levels in the skin and lung; and simultaneously decreased ET-1 concentrations in the plasma and ET-1 mRNA levels in the skin and lungs of the bleomycin-induced sclerotic mice, especially during the early phase (weeks 1-3. CONCLUSION: Crocetin inhibits cell proliferation, differentiation and collagen production in SSc fibroblasts. Crocetin alleviates skin and lung fibrosis in a bleomycin-induced SSc mouse model, in part due to a

  4. Determination of muscle microcirculation of the limbs of healthy persons and patients with scleroderma by means of 133Xe clearance. 2

    International Nuclear Information System (INIS)

    Poenitzsch, I.; Wiemers, U.; Haustein, U.F.; Schneider, G.

    1984-01-01

    By means of 133 Xe muscle clearance the blood flow of the musculus tibialis anterior and the musculus opponens pollicis was determined during nonischemic work and after 3 minutes ischemia in patients with progressive scleroderma and additionally of the ischemic musculus opponens pollicis following contrast baths. In relation to 53 patients with normal vessels the reactive hyperemia of the musculus tibialis anterior after ischemia and of the musculus opponens pollicis after heat, cold as well as arterial flow decreasing was significantly decreased in patients with scleroderma and was as a disturbance of the microcirculation realized. For scientific problems in progressive scleroderma the 133 Xe muscle clearance is suitable as to the musculus opponens pollicis. (author)

  5. Metabolism of /sup 14/C-labelled L-tryptophan, L-kynurenine, and hydroxy-L-kynurenine in miners with scleroderma

    Energy Technology Data Exchange (ETDEWEB)

    Hankes, L.V.; De Bruin, E.; Jansen, C.R.; Vorster, L.; Schmaeler, M.

    1977-03-19

    Six South African white miners were studied with the 2-g L-tryptophan load test and tracer doses of L-tryptophan-7a-/sup 14/C, L-kynurenine-keto-/sup 14/C and hydroxy-L-kynurenine-keto-/sup 14/C. The breath /sup 14/CO/sub 2/ and 14 urinary metabolites were measured. When they were compared with a previous study of American women with scleroderma, similar /sup 14/CO/sub 2/ and tryptophan metabolite excretion patterns were observed in the data from the miners. The labelled quinolinic acid excretion was more significantly elevated in the South African miners' urine than in the urine of the American women. The data from both studies suggest that some patients with scleroderma have an altered step in the tryptophan metabolic pathway after hydroxy-anthranilic acid. What relationship exists between the induction of pulmonary silicosis and the subsequent development of scleroderma, requires additional human studies.

  6. Fibrose cística em adultos: aspectos clínicos e espirométricos Cystic fibrosis in adults clinical and spirometric aspects

    Directory of Open Access Journals (Sweden)

    Antônio Carlos M. Lemos

    2004-02-01

    Full Text Available INTRODUÇÃO: A fibrose cística é diagnosticada usualmente na infância. No Brasil, poucos estudos abordam seu diagnóstico na idade adulta. OBJETIVO: Descrever as características demográficas, clínicas e os achados de espirometria dos pacientes com fibrose cística diagnosticados na idade adulta, na Bahia (Brasil. MÉTODO: Foram avaliados 28 pacientes com fibrose cística diagnosticada na idade adulta no Centro de Referência de Fibrose Cística do Estado da Bahia. As variáveis de interesse foram: idade, gênero, cor, índice de massa corpórea (IMC, cultivo do escarro, porcentagem do previsto da capacidade vital forçada (% CVF, porcentagem do previsto do volume expiratório forçado no primeiro segundo (% VEF1 e resposta ao broncodilatador. RESULTADOS: A média de idade dos pacientes foi de 31,1±12,4 anos. A proporção de negros e mulatos foi de 53,7%, e a média de IMC foi 18,7±3,0Kg/m2. Em doze pacientes (43% foi confirmada P. aeruginosa no escarro. As médias ±DP dos percentuais do previsto da CVF e do VEF1 foram de 58,9±21,6% e 44,1±23% respectivamente. No grupo colonizado por P. aeruginosa as médias dos parâmetros espirométricos foram inferiores às do grupo não colonizado. Entretanto, somente em relação à CVF esta diferença alcançou significância estatística (p= 0,007. CONCLUSÃO: Concordante com a literatura, este estudo reforça que o diagnóstico de fibrose cística deve ser investigado em pacientes com infecções respiratórias de repetição, sinusite e bronquiectasias, mesmo na idade adulta. Os valores dos percentuais da CVF e VEF1 em relação ao previsto foram menores nos pacientes colonizados por P aeruginosa, evidenciando uma maior deterioração da função pulmonar.INTRODUCTION: Cystic Fibrosis is usually diagnosed in childhood. In Brazil, few studies have approached CF diagnosed in adulthood. OBJECTIVE: The aim of this study was to describe demographic and clinical characteristics and spirometric

  7. The Localized Scleroderma Skin Severity Index and Physician Global Assessment of Disease Activity: A Work in Progress Toward Development of Localized Scleroderma Outcome Measures

    Science.gov (United States)

    ARKACHAISRI, THASCHAWEE; VILAIYUK, SOAMARAT; LI, SUZANNE; O’NEIL, KATHLEEN M.; POPE, ELENA; HIGGINS, GLORIA C.; PUNARO, MARILYNN; RABINOVICH, EGLA C.; ROSENKRANZ, MARGALIT; KIETZ, DANIEL A.; ROSEN, PAUL; SPALDING, STEVEN J.; HENNON, TERESA R.; TOROK, KATHRYN S.; CASSIDY, ELAINE; MEDSGER, THOMAS A.

    2013-01-01

    Objective To develop and evaluate a Localized Scleroderma (LS) Skin Severity Index (LoSSI) and global assessments’ clinimetric property and effect on quality of life (QOL). Methods A 3-phase study was conducted. The first phase involved 15 patients with LS and 14 examiners who assessed LoSSI [surface area (SA), erythema (ER), skin thickness (ST), and new lesion/extension (N/E)] twice for inter/intrarater reliability. Patient global assessment of disease severity (PtGA-S) and Children’s Dermatology Life Quality Index (CDLQI) were collected for intrarater reliability evaluation. The second phase was aimed to develop clinical determinants for physician global assessment of disease activity (PhysGA-A) and to assess its content validity. The third phase involved 2 examiners assessing LoSSI and PhysGA-A on 27 patients. Effect of training on improving reliability/validity and sensitivity to change of the LoSSI and PhysGA-A was determined. Results Interrater reliability was excellent for ER [intraclass correlation coefficient (ICC) 0.71], ST (ICC 0.70), LoSSI (ICC 0.80), and PhysGA-A (ICC 0.90) but poor for SA (ICC 0.35); thus, LoSSI was modified to mLoSSI. Examiners’ experience did not affect the scores, but training/practice improved reliability. Intrarater reliability was excellent for ER, ST, and LoSSI (Spearman’s rho = 0.71–0.89) and moderate for SA. PtGA-S and CDLQI showed good intrarater agreement (ICC 0.63 and 0.80). mLoSSI correlated moderately with PhysGA-A and PtGA-S. Both mLoSSI and PhysGA-A were sensitive to change following therapy. Conclusion mLoSSI and PhysGA-A are reliable and valid tools for assessing LS disease severity and show high sensitivity to detect change over time. These tools are feasible for use in routine clinical practice. They should be considered for inclusion in a core set of LS outcome measures for clinical trials. PMID:19833758

  8. Lupus erythematosus and localized scleroderma coexistent at the same sites: a rare presentation of overlap syndrome of connective-tissue diseases.

    Science.gov (United States)

    Pascucci, Anabella; Lynch, Peter J; Fazel, Nasim

    2016-05-01

    Overlap syndromes are known to occur with connective-tissue diseases (CTDs). Rarely, the overlap occurs at the same tissue site. We report the case of a patient with clinical and histopathologic findings consistent with the presence of discoid lupus erythematosus (DLE) and localized scleroderma within the same lesions. Based on our case and other reported cases in the literature, the following features are common in patients with an overlap of lupus erythematosus (LE) and localized scleroderma: predilection for young women, photodistributed lesions, DLE, linear morphology clinically, and positivity along the dermoepidermal junction on direct immunofluorescence. Most patients showed good response to antimalarials, topical steroids, or systemic steroids.

  9. Soluble intercellular adhesion molecule-1 (sICAM-1) and soluble interleukin-2 receptors (sIL-2R) in scleroderma skin

    DEFF Research Database (Denmark)

    Søndergaard, Klaus; Deleuran, Mette; Heickendorff, Lene

    1998-01-01

    In order to investigate whether soluble intercellular adhesion molecule-1 (sICAM-1) and soluble interleukin-2 receptors (sIL-2R) were present in scleroderma skin, and to compare their levels to concentrations measured in plasma and clinical parameters, we examined suction blister fluid and plasma...... from 13 patients with systemic sclerosis and 11 healthy volunteers. Suction blisters and biopsies were from the transition zone between normal skin and scleroderma, and uninvolved abdominal skin. The levels of sICAM-1 and sIL-2R were significantly increased in both plasma and suction blister fluid from...

  10. Parasitization by Scleroderma guani influences expression of superoxide dismutase genes in Tenebrio molitor.

    Science.gov (United States)

    Zhu, Jia-Ying; Ze, Sang-Zi; Stanley, David W; Yang, Bin

    2014-09-01

    Superoxide dismutase (SOD) is an antioxidant enzyme involved in detoxifying reactive oxygen species. In this study, we identified genes encoding the extracellular and intracellular copper-zinc SODs (ecCuZnSOD and icCuZnSOD) and a manganese SOD (MnSOD) in the yellow mealworm beetle, Tenebrio molitor. The cDNAs for ecCuZnSOD, icCuZnSOD, and MnSOD, respectively, encode 24.55, 15.81, and 23.14 kDa polypeptides, which possess structural features typical of other insect SODs. They showed 20-94% identity to other known SOD sequences from Bombyx mori, Musca domestica, Nasonia vitripennis, Pediculus humanus corporis, and Tribolium castaneum. Expression of these genes was analyzed in selected tissues and developmental stages, and following exposure to Escherichia coli and parasitization by Scleroderma guani. We recorded expression of all three SODs in cuticle, fat body, and hemocytes and in the major developmental stages. Relatively higher expressions were detected in late-instar larvae and pupae, compared to other developmental stages. Transcriptional levels were upregulated following bacterial infection. Analysis of pupae parasitized by S. guani revealed that expression of T. molitor SOD genes was significantly induced following parasitization. We infer that these genes act in immune response and in host-parasitoid interactions. © 2014 Wiley Periodicals, Inc.

  11. Parasitization by Scleroderma guani influences protein expression in Tenebrio molitor pupae.

    Science.gov (United States)

    Zhu, Jia-Ying; Wu, Guo-Xing; Ze, Sang-Zi; Stanley, David W; Yang, Bin

    2014-07-01

    Ectoparasitoid wasps deposit their eggs onto the surface and inject venom into their hosts. Venoms are chemically complex and they exert substantial impact on hosts, including permanent or temporary paralysis and developmental arrest. These visible venom effects are due to changes in expression of genes encoding physiologically relevant proteins. While the influence of parasitization on gene expression in several lepidopterans has been reported, the molecular details of parasitoid/beetle relationships remain mostly unknown. This shortcoming led us to pose the hypothesis that envenomation by the ectoparasitic ant-like bethylid wasp Scleroderma guani leads to changes in protein expression in the yellow mealworm beetle Tenebrio molitor. We tested our hypothesis by comparing the proteomes of non-parasitized and parasitized host pupae using iTRAQ-based proteomics. We identified 41 proteins that were differentially expressed (32↑- and 9↓-regulated) in parasitized pupae. We assigned these proteins to functional categories, including immunity, stress and detoxification, energy metabolism, development, cytoskeleton, signaling and others. We recorded parallel changes in mRNA levels and protein abundance in 14 selected proteins following parasitization. Our findings support our hypothesis by documenting changes in protein expression in parasitized hosts. Copyright © 2014 Elsevier Ltd. All rights reserved.

  12. Decreased interleukin-20 expression in scleroderma skin contributes to cutaneous fibrosis.

    Science.gov (United States)

    Kudo, Hideo; Jinnin, Masatoshi; Asano, Yoshihide; Trojanowska, Maria; Nakayama, Wakana; Inoue, Kuniko; Honda, Noritoshi; Kajihara, Ikko; Makino, Katsunari; Fukushima, Satoshi; Ihn, Hironobu

    2014-06-01

    To clarify the role of interleukin-20 (IL-20) in the regulatory mechanism of extracellular matrix expression and to determine the contribution of IL-20 to the phenotype of systemic sclerosis (SSc). Protein and messenger RNA (mRNA) levels of collagen, Fli-1, IL-20, and IL-20 receptor (IL-20R) were analyzed using polymerase chain reaction (PCR) array, immunoblotting, immunohistochemical staining, enzyme-linked immunosorbent assay, and real-time PCR. PCR array revealed that IL-20 decreased gene expression of α2(I) collagen (0.03-fold), Smad3 (0.02-fold), and endoglin (0.05-fold) in cultured normal dermal fibroblasts. Fli-1 protein expression was induced by IL-20 (~2-fold). The inhibition of collagen by IL-20, the induction of Fli-1 by IL-20, and the reduction of Smad3 and endoglin by IL-20 were also observed in SSc fibroblasts. Serum IL-20 levels were reduced only slightly in SSc patients but were significantly decreased in patients with scleroderma spectrum disorders (the prodromal stage of SSc) compared with those in normal subjects (111.3 pg/ml versus 180.4 pg/ml; P value of IL-20 and IL-20R, their function and expression in vivo should be further studied. Copyright © 2014 by the American College of Rheumatology.

  13. The Assessment of Health-Related Quality of Life in Scleroderma-Interstitial Lung Disease

    Directory of Open Access Journals (Sweden)

    Shahrzad M Lari

    2014-05-01

    Full Text Available Introduction: Pulmonary involvement is the most common cause of mortality and disability in patients with systemic sclerosis and it significantly affects the quality of life in these patients. Therefore, early diagnosis and treatment of pulmonary involvement seems necessary in patients with SSc. In this study, we aimed to assess the health-related quality of life (HRQoL in patients with Scleroderma-Interstitial Lung Disease (SSc-ILD and its relationship with pulmonary function parameters. Materials and Methods: Considering the inclusion and exclusion criteria, 25 patients with SSc-ILD were enrolled in this cross-sectional study from April 2012 to June 2013. Full tests of lung function, including body plethysmography and diffusing capacity of the lungs for carbon monoxide (DLCO, 6-minute walk distance (6MWD, and pulse oximetry were performed. The HRQoL was assessed using St. George’s and CAT questionnaires; also, dyspnea was evaluated for all the patients, using modified medical research council (MMRC scale. Afterwards, the relationship between the total scores of HRQoL questionnaires and the severity of lung disease was analyzed, based on the recorded variables. Results: The mean age of the patients was 40.36±9.50 years and the mean duration of the disease was 7.16±4.50 years. A statistically significant inverse correlation was observed between 6MWD (r=-0.50, P=0.01, DLCO (r=-0.67, P

  14. Assessment of extent of skin involvement in scleroderma using shear wave elastography

    Directory of Open Access Journals (Sweden)

    Anupam Wakhlu

    2017-01-01

    Full Text Available Introduction: Scleroderma (systemic sclerosis [SSc] is a rare autoimmune disease which manifests as fibrosis in the skin and other internal organs. Conventionally, the modified Rodnan skin score (MRSS has been used to quantify the extent of skin fibrosis (resulting in skin tightness in SSc. This technique, although widely validated, is limited by the requirement of a trained, experienced assessor. Recent literature suggests that utilization of the objective ultrasound-based assessment of skin fibrosis utilizing shear wave elastography (SWE may be a more robust technique to detect early skin tightness in SSc. Methods: We evaluated the use of SWE (assessed by an experienced radiologist in 24 patients with SSc compared with 16 healthy controls. Results: Our patients were predominantly females, with median disease duration of 1.5 years and median MRSS of 17. There was minimal intraobserver variation in the assessment of SWE. Patients with SSc had higher SWE values (mean elasticity [Emean] compared to healthy controls at most assessed sites for the MRSS. The Emeancorrelated significantly at all sites with the MRSS scores. At the sites where MRSS was scored as 0 (normal, the Emeanin patients with SSc was higher when compared with similarly clinical normal skin in patients with SSc, suggesting potential early involvement of these areas of the skin with fibrosis. Conclusion: SWE is a promising tool to objectively assess skin fibrosis in SSc and may be useful in detecting early, subclinical skin involvement in this disease.

  15. Mortality Risk Prediction in Scleroderma-Related Interstitial Lung Disease: The SADL Model.

    Science.gov (United States)

    Morisset, Julie; Vittinghoff, Eric; Elicker, Brett M; Hu, Xiaowen; Le, Stephanie; Ryu, Jay H; Jones, Kirk D; Haemel, Anna; Golden, Jeffrey A; Boin, Francesco; Ley, Brett; Wolters, Paul J; King, Talmadge E; Collard, Harold R; Lee, Joyce S

    2017-11-01

    Interstitial lung disease (ILD) is an important cause of morbidity and mortality in patients with scleroderma (Scl). Risk prediction and prognostication in patients with Scl-ILD are challenging because of heterogeneity in the disease course. We aimed to develop a clinical mortality risk prediction model for Scl-ILD. Patients with Scl-ILD were identified from two ongoing longitudinal cohorts: 135 patients at the University of California, San Francisco (derivation cohort) and 90 patients at the Mayo Clinic (validation cohort). Using these two separate cohorts, a mortality risk prediction model was developed and validated by testing every potential candidate Cox model, each including three or four variables of a possible 19 clinical predictors, for time to death. Model discrimination was assessed using the C-index. Three variables were included in the final risk prediction model (SADL): ever smoking history, age, and diffusing capacity of the lung for carbon monoxide (% predicted). This continuous model had similar performance in the derivation (C-index, 0.88) and validation (C-index, 0.84) cohorts. We created a point scoring system using the combined cohort (C-index, 0.82) and used it to identify a classification with low, moderate, and high mortality risk at 3 years. The SADL model uses simple, readily accessible clinical variables to predict all-cause mortality in Scl-ILD. Copyright © 2017 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

  16. Gammadelta receptor bearing T cells in scleroderma: enhanced interaction with vascular endothelial cells in vitro.

    Science.gov (United States)

    Kahaleh, M B; Fan, P S; Otsuka, T

    1999-05-01

    In view of the documented perivascular mononuclear cell infiltration in the involved organs in scleroderma (SSc) and the reported accumulation of gammadelta-T cells in SSc skin and lung, we evaluated gammadelta-T cell interaction with endothelial cells (EC) in vitro. gammadelta- and alphabeta-T cells were isolated from BPMN of SSc patients with early diffuse disease and of matched control subjects by an immunomagnetic method after stimulation with mycobacterium lysate and interleukin-2 for 2 weeks. Lymphocyte adhesion, proliferation, and cytotoxicity to EC were investigated. SSc gammadelta-T cells adhered to cultured EC and proliferated at higher rates than control cells. Furthermore, significant EC cytotoxicity by SSc gammadelta was seen. The cytotoxicity was blocked by addition of anti-gammadelta-TCR antibody and by anti-granzyme A antibody but not by anti-MHC class I and II antibodies. Expression of granzyme A mRNA was seen in five/five SSc gammadelta-T cells and in one/five control cells. alphabeta-T cells from both SSc and control subjects were significantly less interactive with EC than gammadelta-T cells. The data demonstrate EC recognition by SSc gammadelta-T cells and propose gammadelta-T cells as a possible effector cell type in the immune pathogenesis of SSc. Copyright 1999 Academic Press.

  17. Clinical and laboratory features of systemic sclerosis complicated with localized scleroderma.

    Science.gov (United States)

    Toki, Sayaka; Motegi, Sei-ichiro; Yamada, Kazuya; Uchiyama, Akihiko; Kanai, Sahori; Yamanaka, Masayoshi; Ishikawa, Osamu

    2015-03-01

    Localized scleroderma (LSc) primarily affects skin, whereas systemic sclerosis (SSc) affects skin and various internal organs. LSc and SSc are considered to be basically different diseases, and there is no transition between them. However, LSc and SSc have several common characteristics, including endothelial cell dysfunction, immune activation, and excess fibrosis of the skin, and there exist several SSc cases complicated with LSc during the course of SSc. Clinical and laboratory characteristics of SSc patients with LSc remain unclear. We investigated the clinical and laboratory features of 8 SSc patients with LSc among 220 SSc patients (3.6%). The types of LSc included plaque (5/8), guttate (2/8), and linear type (1/8). All cases were diagnosed as having SSc within 5 years before or after the appearance of LSc. In three cases of SSc with LSc (37.5%), LSc skin lesions preceded clinical symptoms of SSc. Young age, negative antinuclear antibody, and positive anti-RNA polymerase III antibody were significantly prevalent in SSc patients with LSc. The positivity of anticentromere antibody tended to be prevalent in SSc patients without LSc. No significant difference in the frequency of complications, such as interstitial lung disease, reflux esophagitis, and pulmonary artery hypertension, was observed. The awareness of these characteristic of SSc with LSc are essential to establish an early diagnosis and treatment. © 2015 Japanese Dermatological Association.

  18. Pathogenesis and therapeutic approaches for improved topical treatment in localized scleroderma and systemic sclerosis.

    Science.gov (United States)

    Badea, I; Taylor, M; Rosenberg, A; Foldvari, M

    2009-03-01

    SSc is a chronic progressive disorder of unknown aetiology characterized by excess synthesis and deposition of collagen and other extracellular matrix components in a variety of tissues and organs. Localized scleroderma (LS) differs from SSc in that with LS only skin and occasionally subcutaneous tissues are involved. Although rarely life threatening, LS can be disfiguring and disabling and, consequently, can adversely affect quality of life. There is no known effective treatment for LS, and various options, including, as examples, corticosteroids and other immunomodulatory agents, ultraviolet radiation and vitamin D analogues, are of unproven efficacy. Clinical trials evaluating combination therapy such as corticosteroids with MTX or UVA1 exposure with psoralens have not been established as consistently effective. New immunomodulators such as tacrolimus and thalidomide are also being evaluated. A better understanding of the molecular and cellular mechanisms of LS has led to evaluation of new treatments that modulate profibrotic cytokines such as TGF-beta and IL-4, regulate assembly and deposition of extracellular matrix components, and restore Th1/Th2 immune balance by administering IL-12 or IFN-gamma. IFN-gamma acts by directly inhibiting collagen synthesis and by restoring immune balance. In this review, we evaluate current and future treatment options for LS and cutaneous involvement in SSc. Recent advances in therapy focus mainly on anti-fibrotic agents. Delivery of these drugs into the skin as the target tissue might be a key factor in developing more effective and safer therapy.

  19. Pulmonary clearance of sup 99m Tc-DTPA aerosol in patients with progressive systemic scleroderma

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    Tateno, Madoka; Nakano, Akihiko; Hasegawa, Akira; Watanabe, Naoyuki; Oriuchi, Noboru; Inoue, Tomio; Endo, Keigo (Gunma Univ., Maebashi (Japan). School of Medicine); Sasaki, Yasuhito

    1992-05-01

    Alveolar epithelial permeability was assessed in 32 patients with progressive systemic scleroderma (PSS), using {sup 99m}Tc-DTPA aerosol. Immediately after the inhalation of {sup 99m}Tc-DTPA aerosol for 3 to 6 minutes under normal tidal breathing, lung was imaged sequentially for 30 minutes from the posterior by a gamma camera and exponential fitting was processed on the time activity curve. T{sub 1/2} (min) was used as a parameter for the evaluation of permeability of alveolar epithelium. Patients with collagen disease showed shorter T{sub 1/2} (T{sub 1/2}=43.7{+-}23.8 min) than the normal volunteers (T{sub 1/2}=76.8{+-}8.7 min). No significant difference was observed between patients with or without interstitial changes on the chest CT. Significant correlation was not observed between T{sub 1/2} and %VC or %DLco. In 8 cases, studies were repeated in the interval of 3 to 19 months. Improvement of T{sub 1/2} was seen in 4 cases, independent of CT findings. These results suggest that {sup 99m}Tc-DTPA aerosol clearance study provides information independent from other lung examinations, and may be useful for the assessment of lung interstitial changes in patients with PSS. (author).

  20. Effects of bosentan on collagen type I synthesis on in vitro culture of scleroderma skin fibroblasts

    Directory of Open Access Journals (Sweden)

    S. Soldano

    2011-01-01

    Full Text Available The present study evaluated the effects of a non-selective endothelin (ETA/B receptors antagonist, on collagen type I (COLI synthesis on in vitro culture of scleroderma (SSc skin fibroblasts (Fb. Fb were obtained from skin biopsies of 6 female SSc patients (mean age 64. 1±6 years, after informed consent and Ethical Committee Approval. Cells were treated with endothelin-I [ET-I, 100nM] for 24 and 48 hrs, pre-treated for I hr with ETA/B receptors antagonist [10nM] alone or followed by ET-I for 24 and 48 hrs. Untreated Fb were used as controls. Immunocytochemistry and western blot analysis were performed to evaluate COLI synthesis. ET-I increased COLI synthesis both at 24 and 48 hrs when compared to controls. ETA/B receptor antagonost blocks the increased COLI synthesis ET-I-mediated both at 24 and 48 hrs vs. ET-I. Results showed that ET-I receptors blockage by ETA/B receptors antagonist might prevent the excessive synthesis of COLI, supporting its positive action in the management of skin fibrosis.

  1. Pulmonary clearance of 99mTc-DTPA aerosol in patients with progressive systemic scleroderma

    International Nuclear Information System (INIS)

    Tateno, Madoka; Nakano, Akihiko; Hasegawa, Akira; Watanabe, Naoyuki; Oriuchi, Noboru; Inoue, Tomio; Endo, Keigo; Sasaki, Yasuhito.

    1992-01-01

    Alveolar epithelial permeability was assessed in 32 patients with progressive systemic scleroderma (PSS), using 99m Tc-DTPA aerosol. Immediately after the inhalation of 99m Tc-DTPA aerosol for 3 to 6 minutes under normal tidal breathing, lung was imaged sequentially for 30 minutes from the posterior by a gamma camera and exponential fitting was processed on the time activity curve. T 1/2 (min) was used as a parameter for the evaluation of permeability of alveolar epithelium. Patients with collagen disease showed shorter T 1/2 (T 1/2 =43.7±23.8 min) than the normal volunteers (T 1/2 =76.8±8.7 min). No significant difference was observed between patients with or without interstitial changes on the chest CT. Significant correlation was not observed between T 1/2 and %VC or %DLco. In 8 cases, studies were repeated in the interval of 3 to 19 months. Improvement of T 1/2 was seen in 4 cases, independent of CT findings. These results suggest that 99m Tc-DTPA aerosol clearance study provides information independent from other lung examinations, and may be useful for the assessment of lung interstitial changes in patients with PSS. (author)

  2. Impact of a new simplified disability scoring system for adult patients with localized scleroderma.

    Science.gov (United States)

    Okiyama, Naoko; Asano, Yoshihide; Hamaguchi, Yasuhito; Jinnin, Masatoshi; Motegi, Sei-Ichiro; Koizumi, Haruka; Hasegawa, Minoru; Ishikawa, Osamu; Sato, Shinichi; Takehara, Kazuhiko; Yamamoto, Toshiyuki; Fujimoto, Manabu; Ihn, Hironobu

    2018-04-01

    Localized scleroderma (LoS) involves dermal but not internal inflammation and fibrosis. Cosmetic changes often impact quality of life (QOL), however, impairment of activities of daily living (ADL) in LoS patients has not been investigated. To determine what factor(s) are associated with ADL in adult patients with LoS, we performed a retrospective observational study in 177 Japanese adult LoS patients using a novel LoS disability score based on Barthel's indices of ADL: feeding, bathing, grooming, dressing, bowels, bladder, toilet use, transfers, mobility and stairs. LoS disability scores increased in proportion to the number of affected body parts but were not correlated to age and duration of illness. The presence of leg lesions significantly impaired ADL of LoS patients compared with lesions on other body parts. Patients treated with systemic medications, who tended to have multiple lesions, presented higher LoS disability scores than those without systemic treatments. Our study proposes that physicians evaluate ADL, not only QOL, in LoS patients. Our findings using LoS disability scoring indicate that multiple affected body parts and leg lesions are risk factors for ADL impairment. © 2018 Japanese Dermatological Association.

  3. A longitudinal study of whole body, tissue, and cellular physiology in a mouse model of fibrosing NASH with high fidelity to the human condition.

    Science.gov (United States)

    Krishnan, Anuradha; Abdullah, Tasduq Sheikh; Mounajjed, Taofic; Hartono, Stella; McConico, Andrea; White, Thomas; LeBrasseur, Nathan; Lanza, Ian; Nair, Sreekumaran; Gores, Gregory; Charlton, Michael

    2017-06-01

    The sequence of events that lead to inflammation and fibrosing nonalcoholic steatohepatitis (NASH) is incompletely understood. Hence, we investigated the chronology of whole body, tissue, and cellular events that occur during the evolution of diet-induced NASH. Male C57Bl/6 mice were assigned to a fast-food (FF; high calorie, high cholesterol, high fructose) or standard-chow (SC) diet over a period of 36 wk. Liver histology, body composition, mitochondrial respiration, metabolic rate, gene expression, and hepatic lipid content were analyzed. Insulin resistance [homeostasis model assessment-insulin resistance (HOMA-IR)] increased 10-fold after 4 wk. Fibrosing NASH was fully established by 16 wk. Total hepatic lipids increased by 4 wk and remained two- to threefold increased throughout. Hepatic triglycerides declined from sixfold increase at 8 wk to threefold increase by 36 wk. In contrast, hepatic cholesterol levels steadily increased from baseline at 8 wk to twofold by 36 wk. The hepatic immune cell population altered over time with macrophages persisting beyond 16 wk. Mitochondrial oxygen flux rates of FF mice diet were uniformly lower with all the tested substrates (13-276 pmol·s -1 ·ml -1 per unit citrate synthase) than SC mice (17-394 pmol·s -1 ·ml -1 per unit citrate synthase) and was accompanied by decreased mitochondrial:nuclear gene copy number ratios after 4 wk. Metabolic rate was lower in FF mice. Mitochondrial glutathione was significantly decreased at 24 wk in FF mice. Expression of dismutases and catalase was also decreased in FF mice. The evolution of NASH in the FF diet-induced model is multiphasic, particularly in terms of hepatic lipid composition. Insulin resistance precedes hepatic inflammation and fibrosis. Mitochondrial dysfunction and depletion occur after the histological features of NASH are apparent. Collectively, these observations provide a unique overview of the sequence of changes that coevolve with the histological evolution of

  4. Oligosaccharide modification by N-acetylglucosaminyltransferase-V in macrophages are involved in pathogenesis of bleomycin-induced scleroderma.

    Science.gov (United States)

    Kato, Arisa; Yutani, Mizuki; Terao, Mika; Kimura, Akihiro; Itoi, Saori; Murota, Hiroyuki; Miyoshi, Eiji; Katayama, Ichiro

    2015-08-01

    Oligosaccharide modification by N-acetylglucosaminyltransferase-V (GnT-V), which catalyses the formation of β1,6 GlcNAc (N-acetylglucosamine) branches on N-glycans, is associated with various pathologies, such as cancer metastasis, multiple sclerosis and liver fibrosis. In this study, we demonstrated the involvement of GnT-V in the pathophysiology of scleroderma. High expression of GnT-V was observed in infiltrating cells in skin section samples from systemic and localized patients with scleroderma. Most of the infiltrating cells were T cells and macrophages, most of which were CD163(+) M2 macrophages. To determine the role of GnT-V in scleroderma, we next investigated skin sclerosis in GnT-V knockout (MGAT5(-/-) ) mice. Expression of GnT-V was also elevated in bleomycin (BLM)-injected sclerotic skin, and MGAT5(-/-) mice were resistant to BLM-induced skin sclerosis with reduced collagen type 1 α1 content, suggesting the biological significance of GnT-V in skin sclerosis. Furthermore, the number of CD163(+) M2 macrophages and CD3-positive T cells in BLM-induced skin sclerosis was significantly fewer in MGAT5(-/-) mice. In bone marrow-derived macrophages (BMDMs), IL-4-induced expressions of Fizz1 and Ym1 were significantly reduced in MGAT5(-/-) mice-derived BMDMs. Taken together, these results suggest the induction of GnT-V in skin sclerosis progression is possibly dependent on increased numbers of M2 macrophages in the skin, which are important for tissue fibrosis and remodelling. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  5. Initial evaluation of an ultrasound measure for assessing the activity of skin lesions in juvenile localized scleroderma.

    Science.gov (United States)

    Li, S C; Liebling, M S; Haines, K A; Weiss, J E; Prann, A

    2011-05-01

    To evaluate the construct validity of 2 proposed measures (the Ultrasound Disease Activity [U-DA] and the Tissue Thickness Score [TTS]) for evaluating sonographic differences in juvenile localized scleroderma skin lesions. We conducted a retrospective review of juvenile localized scleroderma patients who had ultrasound scans of their skin lesions between October 2005 and February 2009. Imaged lesions were classified as active or inactive based upon clinical assessment. Lesions had to have been imaged within 1 month of a clinic visit or have the same clinical assessment during both the visit before and the visit after the scan. Two physicians scored the scans using the U-DA, which scores for differences in lesion echogenicity and vascularity compared with normal tissue. Tissue thickness differences were evaluated by percent differences and by using the TTS. Wilcoxon's rank sum test was performed to assess differences. We studied 52 scans from 21 patients, 32 scans of active skin lesions and 20 scans of inactive skin lesions. Features reported by clinicians as indicative of active disease included erythema, warmth, violaceous color, new lesion, expansion of lesion, and induration. The U-DA was significantly different between active and inactive skin lesions (P = 0.0010) with significant differences found for the parameters of total echogenicity, hypodermis echogenicity, and deep tissue layer vascularity (P = 0.0014, P = 0.0023, and P = 0.0374, respectively). No significant differences were found for tissue layer thickness or TTS. The U-DA may be a useful tool in the identification of localized scleroderma activity. Further study is needed to prospectively evaluate the validity, reliability, and sensitivity of this potential monitoring tool. Copyright © 2011 by the American College of Rheumatology.

  6. Radiation-induced skin injury in the animal model of scleroderma: implications for post-radiotherapy fibrosis

    International Nuclear Information System (INIS)

    Kumar, Sanath; Kolozsvary, Andrew; Kohl, Robert; Lu, Mei; Brown, Stephen; Kim, Jae Ho

    2008-01-01

    Radiation therapy is generally contraindicated for cancer patients with collagen vascular diseases (CVD) such as scleroderma due to an increased risk of fibrosis. The tight skin (TSK) mouse has skin which, in some respects, mimics that of patients with scleroderma. The skin radiation response of TSK mice has not been previously reported. If TSK mice are shown to have radiation sensitive skin, they may prove to be a useful model to examine the mechanisms underlying skin radiation injury, protection, mitigation and treatment. The hind limbs of TSK and parental control C57BL/6 mice received a radiation exposure sufficient to cause approximately the same level of acute injury. Endpoints included skin damage scored using a non-linear, semi-quantitative scale and tissue fibrosis assessed by measuring passive leg extension. In addition, TGF-β1 cytokine levels were measured monthly in skin tissue. Contrary to our expectations, TSK mice were more resistant (i.e. 20%) to radiation than parental control mice. Although acute skin reactions were similar in both mouse strains, radiation injury in TSK mice continued to decrease with time such that several months after radiation there was significantly less skin damage and leg contraction compared to C57BL/6 mice (p < 0.05). Consistent with the expected association of transforming growth factor beta-1 (TGF-β1) with late tissue injury, levels of the cytokine were significantly higher in the skin of the C57BL/6 mouse compared to TSK mouse at all time points (p < 0.05). TSK mice are not recommended as a model of scleroderma involving radiation injury. The genetic and molecular basis for reduced radiation injury observed in TSK mice warrants further investigation particularly to identify mechanisms capable of reducing tissue fibrosis after radiation injury

  7. IMPORTANCE OF CYCLOPHOSPHANUM IN THE TREATMENT OF INTERSTITIAL LUNG LESION IN PATIENTS WITH SCLERODERMA SYSTEMATICA (A REVIEW OF LITERATURE

    Directory of Open Access Journals (Sweden)

    Olga Aleksandrova Koneva

    2010-01-01

    Full Text Available Interstitial lung diseases (ILD are a common manifestation of scleroderma systematica (SSD that along with pulmonary arterial hypertension remains the leading cause of death in this nosological entity. As of now, cyclophosphanum remains the only immunosuppressant recommended by the European League against Rheumatism for the treatment of ILD in SSD. The paper analyzes the papers providing evidence for the efficacy of cyclophosphanum in ILD in patients with SSD. It also considers the regimens and duration of treatment with cyclophosphanum, ways of evaluating its efficacy and effects on extrapulmonary manifestations of SSD. It is concluded that cyclophosphanum has a positive, predominantly stabilizing, effect on the course of ILD in SSD.

  8. Avaliação do uso do captopril na fibrose peritoneal induzida em ratos pelo uso de solução de glicose a 4,25%

    Directory of Open Access Journals (Sweden)

    Adriana Fátima Menegat Schuinski

    2013-12-01

    Full Text Available INTRODUÇÃO: A Insuficiência Renal Crônica (IRC tem incidência alarmante neste século. A diálise peritoneal, uma das modalidades de terapia renal pode ter complicações, e entre estas a fibrose peritoneal, que ocorre com o decorrer dos anos nestes pacientes. Sua forma mais grave é a chamada peritonite esclerosante encapsulante, levando à mudança de terapia dialítica. OBJETIVO: Estudar a influência do uso do captopril na fibrose peritoneal induzida em ratos pelo uso de solução de glicose a 4,25 %. MÉTODOS: Estudo prospectivo controlado, em ratos Wistar não urêmicos. Foram estudados 20 animais. Os animais foram submetidos diariamente à punção abdominal, sendo infundida solução de diálise peritoneal com glicose a 4,25% na dose de 10 ml/100 g de peso. Os animais foram divididos em 2 grupos: experimental e controle. O grupo experimental recebeu captopril na dose de 30 mg/kg/dia por gavagem. O grupo controle não recebeu nenhuma droga. Foram acompanhados por 21 e 49 dias. Ao final do período foram submetidos à procedimento cirúrgico para retirada de peritônio parietal e visceral. As amostras obtidas foram analisadas histologicamente, usando-se coloração Hematoxilina - Eosina e Sirius Red, para avaliação do grau de fibrose. RESULTADOS: A análise mostrou que a intensidade da fibrose, a espessura do peritônio e o número de células não atingiram diferença estatisticamente significante entre os grupos experimental e controle. CONCLUSÃO: O estudo mostrou que o uso do captopril não foi capaz de alterar a intensidade da fibrose peritoneal induzida pelo uso de solução de diálise em ratos.

  9. Expression and distribution of connexin 32 in rat liver with experimentally induced fibrosis Expressão e distribuição da conexina 32 em fígados de ratos com fibrose induzida experimentalmente

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    Alexandro dos S. Rodrigues

    2009-04-01

    Full Text Available The connexin 32 (Cx32 is a protein that forms the channels that promote the gap junction intercellular communication (GJIC in the liver, allowing the diffusion of small molecules through cytosol from cell-to-cell. Hepatic fibrosis is characterized by a disruption of normal tissue architeture by cellular lesions, and may alter the GJIC. This work aimed to study the expression and distribution of Cx32 in liver fibrosis induced by the oral administration of dimethylnitrosamine in female Wistar rats. The necropsy of the rats was carried out after five weeks of drug administration. They presented a hepatic fibrosis state. Sections from livers with fibrosis and from control livers were submitted to immunohistochemical, Real Time-PCR and Western-Blot analysis to Cx32. In fibrotic livers the Cxs were diffusely scattered in the cytoplasm, contrasting with the control livers, where the Cx32 formed junction plaques at the cell membrane. Also it was found a decrease in the gene expression of Cx32 without reduction in the protein quantity when compared with controls. These results suggest that there the mechanism of intercellular communication between hepatocytes was reduced by the fibrotic process, which may predispose to the occurrence of a neoplastic process, taken in account that connexins are considered tumor suppressing genes.A conexina 32 (Cx32 é uma proteína que constitui os canais que promovem as comunicações intercelulares via junções comunicantes (CIJC no fígado, permitindo difusão de pequenas moléculas citoplasmáticas de uma célula à outra. A fibrose hepática caracteriza-se pela alteração da arquitetura normal do fígado e podem alterar as CIJCs. O objetivo deste trabalho foi estudar a expressão e distribuição de Cx32 na fibrose hepática. O objetivo do presente trabalho foi estudar a expressão e distribuição da Cx32 em fígados com fibrose induzida pela administração oral de dimetilnitrosamina em fêmeas de ratos Wistar. A

  10. Perfil de citocinas da polipose nasossinusal na Fibrose Cística comparado com indivíduos sem doenças nasossinusais Cytokine profile in subjects with Cystic Fibrosis and nasal polyposis compared to patients with no nasal disorders

    Directory of Open Access Journals (Sweden)

    Flávio Barbosa Nunes

    2010-02-01

    Full Text Available Embora o perfil das citocinas na polipose nasossinusal seja bem documentado, pouco se sabe sobre estas proteínas quando associadas à Fibrose Cística. OBJETIVOS: Avaliar a expressão das citocinas IL¬4, IL¬5, IL¬6, IL¬8, GM¬C-SF e IFN--y analisada pela RT¬-PCR, nos pólipos de pacientes com Fibrose Cística. MATERIAL E MÉTODO: Estudo transversal, prospectivo, de 24 pacientes, 13 com Fibrose Cística e polipose nasossinusal (Grupo Fibrose Cística e 11 com exame otorrinolaringológico normal (Grupo Controle. A média de idade foi de 21 anos (3¬-57, 12 eram do sexo masculino e 12 do sexo feminino. O perfil das citocinas foi pesquisado nos fragmentos de mucosa (Grupo Controle ou pólipo nasal (Grupo Fibrose Cística através da RT-¬PCR. Foram estudadas as transcrições para as citocinas IL¬4, IL¬5, IL¬6, IL¬8, IFN¬y e GM¬-CSF ajustadas pelo valor da β¬ actina. RESULTADOS: As interleucinas 5, 6, 8 e GM¬-CSF foram semelhantes nos dois grupos (p>0,05. Menores valores de IFNy¬ (p=0,03 e forte tendência de aumento de IL¬4 (p=0,06 foram observados no grupo Fibrose Cística. CONCLUSÃO: As células inflamatórias e estruturais podem produzir RNA mensageiro para IL¬4, bloqueando a produção de outras citocinas com IFN-y¬, sugerindo a participação destes mecanismos na formação dos pólipos da Fibrose Cística.Although the cytokine profile in nasal polyposis is well documented, little is known about cytokines associated to cystic fibrosis. AIM: Assess the expression of cytokines IL¬4, IL¬5, IL¬6, IL¬8, GM¬-CSF and IFN¬-y, analyzed through RT-PCR, in the polyps of patients with cystic fibrosis. MATERIALS AND METHODS: A cross-sectional, prospective study was carried out with 24 patients, 13 of whom had cystic fibrosis and nasal polyposis (Cystic Fibrosis Group and 11 had normal otorhinolaryngological exams (Control Group. The average age was 21 years (3¬57; 12 participants were males and 12 were females. The cytokine

  11. Transcriptomic immune response of Tenebrio molitor pupae to parasitization by Scleroderma guani.

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    Jia-Ying Zhu

    Full Text Available BACKGROUND: Host and parasitoid interaction is one of the most fascinating relationships of insects, which is currently receiving an increasing interest. Understanding the mechanisms evolved by the parasitoids to evade or suppress the host immune system is important for dissecting this interaction, while it was still poorly known. In order to gain insight into the immune response of Tenebrio molitor to parasitization by Scleroderma guani, the transcriptome of T. molitor pupae was sequenced with focus on immune-related gene, and the non-parasitized and parasitized T. molitor pupae were analyzed by digital gene expression (DGE analysis with special emphasis on parasitoid-induced immune-related genes using Illumina sequencing. METHODOLOGY/PRINCIPAL FINDINGS: In a single run, 264,698 raw reads were obtained. De novo assembly generated 71,514 unigenes with mean length of 424 bp. Of those unigenes, 37,373 (52.26% showed similarity to the known proteins in the NCBI nr database. Via analysis of the transcriptome data in depth, 430 unigenes related to immunity were identified. DGE analysis revealed that parasitization by S. guani had considerable impacts on the transcriptome profile of T. molitor pupae, as indicated by the significant up- or down-regulation of 3,431 parasitism-responsive transcripts. The expression of a total of 74 unigenes involved in immune response of T. molitor was significantly altered after parasitization. CONCLUSIONS/SIGNIFICANCE: obtained T. molitor transcriptome, in addition to establishing a fundamental resource for further research on functional genomics, has allowed the discovery of a large group of immune genes that might provide a meaningful framework to better understand the immune response in this species and other beetles. The DGE profiling data provides comprehensive T. molitor immune gene expression information at the transcriptional level following parasitization, and sheds valuable light on the molecular

  12. Transcriptomic immune response of Tenebrio molitor pupae to parasitization by Scleroderma guani.

    Science.gov (United States)

    Zhu, Jia-Ying; Yang, Pu; Zhang, Zhong; Wu, Guo-Xing; Yang, Bin

    2013-01-01

    Host and parasitoid interaction is one of the most fascinating relationships of insects, which is currently receiving an increasing interest. Understanding the mechanisms evolved by the parasitoids to evade or suppress the host immune system is important for dissecting this interaction, while it was still poorly known. In order to gain insight into the immune response of Tenebrio molitor to parasitization by Scleroderma guani, the transcriptome of T. molitor pupae was sequenced with focus on immune-related gene, and the non-parasitized and parasitized T. molitor pupae were analyzed by digital gene expression (DGE) analysis with special emphasis on parasitoid-induced immune-related genes using Illumina sequencing. In a single run, 264,698 raw reads were obtained. De novo assembly generated 71,514 unigenes with mean length of 424 bp. Of those unigenes, 37,373 (52.26%) showed similarity to the known proteins in the NCBI nr database. Via analysis of the transcriptome data in depth, 430 unigenes related to immunity were identified. DGE analysis revealed that parasitization by S. guani had considerable impacts on the transcriptome profile of T. molitor pupae, as indicated by the significant up- or down-regulation of 3,431 parasitism-responsive transcripts. The expression of a total of 74 unigenes involved in immune response of T. molitor was significantly altered after parasitization. obtained T. molitor transcriptome, in addition to establishing a fundamental resource for further research on functional genomics, has allowed the discovery of a large group of immune genes that might provide a meaningful framework to better understand the immune response in this species and other beetles. The DGE profiling data provides comprehensive T. molitor immune gene expression information at the transcriptional level following parasitization, and sheds valuable light on the molecular understanding of the host-parasitoid interaction.

  13. Transcriptomic Immune Response of Tenebrio molitor Pupae to Parasitization by Scleroderma guani

    Science.gov (United States)

    Zhu, Jia-Ying; Yang, Pu; Zhang, Zhong; Wu, Guo-Xing; Yang, Bin

    2013-01-01

    Background Host and parasitoid interaction is one of the most fascinating relationships of insects, which is currently receiving an increasing interest. Understanding the mechanisms evolved by the parasitoids to evade or suppress the host immune system is important for dissecting this interaction, while it was still poorly known. In order to gain insight into the immune response of Tenebrio molitor to parasitization by Scleroderma guani, the transcriptome of T. molitor pupae was sequenced with focus on immune-related gene, and the non-parasitized and parasitized T. molitor pupae were analyzed by digital gene expression (DGE) analysis with special emphasis on parasitoid-induced immune-related genes using Illumina sequencing. Methodology/Principal Findings In a single run, 264,698 raw reads were obtained. De novo assembly generated 71,514 unigenes with mean length of 424 bp. Of those unigenes, 37,373 (52.26%) showed similarity to the known proteins in the NCBI nr database. Via analysis of the transcriptome data in depth, 430 unigenes related to immunity were identified. DGE analysis revealed that parasitization by S. guani had considerable impacts on the transcriptome profile of T. molitor pupae, as indicated by the significant up- or down-regulation of 3,431 parasitism-responsive transcripts. The expression of a total of 74 unigenes involved in immune response of T. molitor was significantly altered after parasitization. Conclusions/Significance obtained T. molitor transcriptome, in addition to establishing a fundamental resource for further research on functional genomics, has allowed the discovery of a large group of immune genes that might provide a meaningful framework to better understand the immune response in this species and other beetles. The DGE profiling data provides comprehensive T. molitor immune gene expression information at the transcriptional level following parasitization, and sheds valuable light on the molecular understanding of the host

  14. Esophageal abnormalities in juvenile localized scleroderma: is it associated with other extracutaneous manifestations?

    Science.gov (United States)

    Valões, Clarissa C M; Novak, Glaucia V; Brunelli, Juliana B; Kozu, Katia T; Toma, Ricardo K; Silva, Clovis A

    To assess esophageal involvement (EI) in juvenile localized scleroderma (JLS) population and the possible association between this gastrointestinal manifestation and demographic data, clinical features, laboratory exams, treatments and outcomes. For a period of 30 years, 5881 patients with rheumatic diseases were followed in our Pediatric Rheumatology Division. EI was defined by the presence of symptoms (solid/liquid dysphagia, heartburn, esophageal regurgitation, nausea/vomiting and epigastralgia) and confirmed by at least one EI exam abnormality: barium contrast radiography, upper gastrointestinal endoscopy and 24-hour esophageal pH-monitoring. JLS was observed in 56/5881 patients (0.9%), mainly linear morphea subtype. EI was observed in 23/56(41%) of JLS patients. Eight(35%) of 23 EI patients with JLS were symptomatic and presented heartburn(5/8), solid and liquid dysphagia(3/8), nausea and epigastralgia(1/8). The frequency of any cumulative extracutaneous manifestations (calcinosis, arthritis/arthralgia, central nervous system, interstitial pneumonitis, mesangial nephritis and/or arrhythmia) was significantly higher in JLS patients with EI compared to those without this complication (56% vs. 24%, p=0.024). No differences were evidenced in demographic data, JLS subtypes and in each extracutaneous manifestation in both groups (p>0.05). The frequency of methotrexate use was significantly higher in JLS patients with EI compared to those without (52% vs. 12%, p=0.002). Autoantibody profile (antinuclear antibodies, anti-SCL-70, rheumatoid factor, anticentromere, anti-cardiolipin, anti-Ro/SSA and anti-La/SSB) was similar in both groups (p>0.05). Our study demonstrated that EI was frequently observed in JLS patients, mainly in asymptomatic patients with linear subtype. EI occurred in JLS patients with other extracutaneous manifestations and required methotrexate therapy. Copyright © 2016. Published by Elsevier Editora Ltda.

  15. Quantitative nanohistological investigation of scleroderma: an atomic force microscopy-based approach to disease characterization

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    Strange AP

    2017-01-01

    Full Text Available Adam P Strange,1 Sebastian Aguayo,1 Tarek Ahmed,1 Nicola Mordan,1 Richard Stratton,2 Stephen R Porter,3 Susan Parekh,4 Laurent Bozec1 1Department of Biomaterials and Tissue Engineering, UCL Eastman Dental Institute, 2Centre for Rheumatology and Connective Tissue Diseases, Royal Free Hospital, UCL Medical School, 3UCL Eastman Dental Institute, 4Department of Pediatrics, UCL Eastman Dental Institute, London, UK Abstract: Scleroderma (or systemic sclerosis, SSc is a disease caused by excess crosslinking of collagen. The skin stiffens and becomes painful, while internally, organ function can be compromised by the less elastic collagen. Diagnosis of SSc is often only possible in advanced cases by which treatment time is limited. A more detailed analysis of SSc may provide better future treatment options and information of disease progression. Recently, the histological stain picrosirius red showing collagen register has been combined with atomic force microscopy (AFM to study SSc. Skin from healthy individuals and SSc patients was biopsied, stained and studied using AFM. By investigating the crosslinking of collagen at a smaller hierarchical stage, the effects of SSc were more pronounced. Changes in morphology and Young’s elastic modulus were observed and quantified; giving rise to a novel technique, we have termed “quantitative nanohistology”. An increase in nanoscale stiffness in the collagen for SSc compared with healthy individuals was seen by a significant increase in the Young’s modulus profile for the collagen. These markers of stiffer collagen in SSc are similar to the symptoms experienced by patients, giving additional hope that in the future, nanohistology using AFM can be readily applied as a clinical tool, providing detailed information of the state of collagen. Keywords: rheumatology, adjunct diagnosis, picrosirius red, collagen, nanohistology

  16. Is occupational exposure to solvents associated with an increased risk for developing systemic scleroderma?

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    Drexler Hans

    2006-07-01

    Full Text Available Abstract Background Our study was aimed to investigate in a German collective if there are any hints for an increased occupational or environmental risk to develop systemic sclerosis, especially, focussing on work-related exposure to solvents. Moreover, we tried to evaluate the feasibility of a sampling method addressing support groups. Methods A standardised questionnaire was published in two journals subscribed by members of two different support groups and all members were asked to complete the questionnaire and to return it anonymously. The subjects were not informed on the scientific hypotheses, nor did they know who of them belonged to the case group (scleroderma or to the control group (multiple sclerosis. Results 175 questionnaires could be included in the statistical analysis. As expected, a female predominance was in our collective. In the male subpopulation, the occupational exposure to solvents was higher in the case group than in the control-group (70% versus 45.8%. Based only on the male subgroup, a tendency for an association between occupational exposure to solvents and the risk to develop systemic sclerosis was found. Conclusion According to our experience in this case-control-study exposure misclassification, qualitative or quantitative, was an eminent problem. Within such a setting, it is generally very difficult to establish an exact dose-response relationship due to incomplete, imprecise or missing data concerning duration of exposure, frequency of use and kind of solvent. Additionally, a well-known problem in studies based on self-reported questionnaires is the so-called volunteer bias. Unfortunately, but similar to other studies assessing epidemiologic factors in such a rare disease, our study was of limited power, especially in the subgroups defined by gender.

  17. Esophageal abnormalities in juvenile localized scleroderma: is it associated with other extracutaneous manifestations?

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    Clarissa C.M. Valões

    Full Text Available Abstract Objective: To assess esophageal involvement (EI in juvenile localized scleroderma (JLS population and the possible association between this gastrointestinal manifestation and demographic data, clinical features, laboratory exams, treatments and outcomes. Methods: For a period of 30 years, 5881 patients with rheumatic diseases were followed in our Pediatric Rheumatology Division. EI was defined by the presence of symptoms (solid/liquid dysphagia, heartburn, esophageal regurgitation, nausea/vomiting and epigastralgia and confirmed by at least one EI exam abnormality: barium contrast radiography, upper gastrointestinal endoscopy and 24-hour esophageal pH-monitoring. Results: JLS was observed in 56/5881 patients (0.9%, mainly linear morphea subtype. EI was observed in 23/56(41% of JLS patients. Eight(35% of 23 EI patients with JLS were symptomatic and presented heartburn(5/8, solid and liquid dysphagia(3/8, nausea and epigastralgia(1/8. The frequency of any cumulative extracutaneous manifestations (calcinosis, arthritis/arthralgia, central nervous system, interstitial pneumonitis, mesangial nephritis and/or arrhythmia was significantly higher in JLS patients with EI compared to those without this complication (56% vs. 24%, p = 0.024. No differences were evidenced in demographic data, JLS subtypes and in each extracutaneous manifestation in both groups (p > 0.05. The frequency of methotrexate use was significantly higher in JLS patients with EI compared to those without (52% vs. 12%, p = 0.002. Autoantibody profile (antinuclear antibodies, anti-SCL-70, rheumatoid factor, anticentromere, anti-cardiolipin, anti-Ro/SSA and anti-La/SSB was similar in both groups (p > 0.05. Conclusions: Our study demonstrated that EI was frequently observed in JLS patients, mainly in asymptomatic patients with linear subtype. EI occurred in JLS patients with other extracutaneous manifestations and required methotrexate therapy.

  18. Valuation of scleroderma and psoriatic arthritis health states by the general public

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    Hays Ron D

    2010-10-01

    Full Text Available Abstract Objective Psoriatic arthritis (PsA and scleroderma (SSc are chronic rheumatic disorders with detrimental effects on health-related quality of life. Our objective was to assess health values (utilities from the general public for health states common to people with PsA and SSc for economic evaluations. Methods Adult subjects from the general population in a Midwestern city (N = 218 completed the SF-12 Health Survey and computer-assisted 0-100 rating scale (RS, time trade-off (TTO, range: 0.0-1.0 and standard gamble (SG, range: 0.0-1.0 utility assessments for several hypothetical PsA and SSc health states. Results Subjects included 135 (62% females, 143 (66% Caucasians, and 62 (28% African-Americans. The mean (SD scores for the SF-12 Physical Component Summary scale were 52.9 (8.3 and for the SF-12 Mental Component Summary scale were 49.0 (9.1, close to population norms. The mean RS, TTO, and SG scores for PsA health states varied with severity, ranging from 20.2 to 63.7 (14.4-20.3 for the RS 0.29 to 0.78 (0.24-0.31 for the TTO, and 0.48 to 0.82 (0.24-0.34 for the SG. The mean RS, TTO, and SG scores for SSc health states were 25.3-69.7 (15.2-16.3 for the RS, 0.36-0.80 (0.25-0.31 for the TTO, and 0.50-0.81 (0.26-0.32 for the SG, depending on disease severity. Conclusion Health utilities for PsA and SSc health states as assessed from the general public reflect the severity of the diseases. These descriptive findings could have implications regarding comparative effectiveness research for tests and treatments for PsA and SSc.

  19. microRNA-7 down-regulation mediates excessive collagen expression in localized scleroderma.

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    Etoh, Mitsuhiko; Jinnin, Masatoshi; Makino, Katsunari; Yamane, Keitaro; Nakayama, Wakana; Aoi, Jun; Honda, Noritoshi; Kajihara, Ikko; Makino, Takamitsu; Fukushima, Satoshi; Ihn, Hironobu

    2013-01-01

    Localized scleroderma (LSc), a connective tissue disorder restricted to the skin and subcutaneous tissue, is characterized by skin fibrosis due to an excessive deposition of types I collagen. The mechanism of such fibrosis is still unknown, but epigenetics may play some roles in the excessive collagen expression. In the present study, we investigated the mechanism of fibrosis seen in LSc, focusing on microRNA (miRNA). miRNA expression was determined by PCR array, real-time PCR, and in situ hybridization. The function of miRNA was evaluated using specific inhibitor. Immunoblotting was performed to detect α2(I) collagen protein. PCR array analysis using tissue miRNA demonstrated miR-7 level was significantly decreased in LSc skin as well as keloid tissue compared to normal skin in vivo. In situ hybridization also showed miR-7 expression in dermal fibroblasts was decreased in LSc dermis. The transfection of specific inhibitor for miR-7 into cultured normal dermal fibroblasts resulted in the up-regulation of α2(I) collagen protein in vitro. Also, the serum levels of miR-7 were significantly decreased in LSc patients compared with healthy controls, but serum miR-29a levels not. Systemic or local down-regulation of miR-7 may contribute to the pathogenesis of LSc via the overexpression of α2(I) collagen, and serum miR-7 may be useful as a disease marker. Investigation of the regulatory mechanisms of LSc by miRNA may lead to new treatments by the transfection into the lesional skin of this disease.

  20. Interferon-gamma inducible protein-10 as a potential biomarker in localized scleroderma

    Science.gov (United States)

    2013-01-01

    Introduction The purpose of this study was to evaluate the presence and levels of interferon-gamma inducible protein-10 (IP-10) in the plasma and skin of pediatric localized scleroderma (LS) patients compared to those of healthy pediatric controls and to determine if IP-10 levels correlate to clinical disease activity measures. Methods The presence of IP-10 in the plasma was analyzed using a Luminex panel in 69 pediatric patients with LS and compared to 71 healthy pediatric controls. Of these patients, five had available skin biopsy specimens with concurrent clinical and serological data during the active disease phase, which were used to analyze the presence and location of IP-10 in the skin by immunohistochemistry (IHC). Results IP-10 levels were significantly elevated in the plasma of LS patients compared to that of healthy controls and correlated to clinical disease activity measures in LS. Immunohistochemistry staining of IP-10 was present in the dermal infiltrate of LS patients and was similar to that found in psoriasis skin specimens, the positive disease control. Conclusions Elevation of IP-10 levels in the plasma compared to those of healthy controls and the presence of IP-10 staining in the affected skin of LS patients indicates that IP-10 is a potential biomarker in LS. Furthermore, significant elevation of IP-10 in LS patients with active versus inactive disease and correlations between IP-10 levels and standardized disease outcome measures of activity in LS strongly suggest that IP-10 may be a biomarker for disease activity in LS. PMID:24499523

  1. The Localized Scleroderma Cutaneous Assessment Tool: responsiveness to change in a pediatric clinical population.

    Science.gov (United States)

    Kelsey, Christina E; Torok, Kathryn S

    2013-08-01

    Lack of agreement on how to accurately capture disease outcomes in localized scleroderma (LS) has hindered the development of efficacious treatment protocols. The LS Cutaneous Assessment Tool (LoSCAT), consisting of the modified LS Skin Severity Index (mLoSSI) and the LS Damage Index, has potential for use in clinical trials. The goal of this article is to further evaluate the clinical responsiveness of the LoSCAT. Based on the modifiable nature of disease activity versus damage, we expected the mLoSSI to be responsive to change. At 2 study visits, a physician completed the LoSCAT and Physician Global Assessment (PGA) of Disease Activity and of Disease Damage for 29 patients with LS. Spearman correlations were used to examine the relationships between the change in the LoSCAT and the PGA scores. To evaluate contrasted group validity, patients were grouped according to disease activity classification and change scores of groups were compared. Minimal clinically important differences were calculated and compared with the standard error of measurement. Change in the mLoSSI score correlated strongly with change in the PGA of Disease Activity score, whereas change in the LS Damage Index score correlated weakly with change in the PGA of Disease Damage score. The mLoSSI and PGA of Disease Activity exhibited contrasted group validity. Minimal clinically important differences for the activity measures were greater than the respective standard errors of measurement. Only 2 study visits were included in analysis. This study gives further evidence that the LoSCAT, specifically the mLoSSI, is a responsive, valid measure of activity in LS and should be used in future treatment studies. Copyright © 2013 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  2. Scleroderma dermal microvascular endothelial cells exhibit defective response to pro-angiogenic chemokines

    Science.gov (United States)

    Rabquer, Bradley J.; Ohara, Ray A.; Stinson, William A.; Campbell, Phillip L.; Amin, M. Asif; Balogh, Beatrix; Zakhem, George; Renauer, Paul A.; Lozier, Ann; Arasu, Eshwar; Haines, G. Kenneth; Kahaleh, Bashar; Schiopu, Elena; Khanna, Dinesh; Koch, Alisa E.

    2016-01-01

    Objectives. Angiogenesis plays a critical role in SSc (scleroderma). The aim of this study was to examine the expression of growth-regulated protein-γ (Gro-γ/CXCL3), granulocyte chemotactic protein 2 (GCP-2/CXCL6) and their receptor CXCR2 in endothelial cells (ECs) isolated from SSc skin and determine whether these cells mount an angiogenic response towards pro-angiogenic chemokines. The downstream signalling pathways as well as the pro-angiogenic transcription factor inhibitor of DNA-binding protein 1 (Id-1) were also examined. Methods. Skin biopsies were obtained from patients with dcSSc. ECs were isolated via magnetic positive selection. Angiogenesis was measured by EC chemotaxis assay. Results. Gro-γ/CXCL3 and GCP-2/CXCL6 were minimally expressed in both skin types but elevated in SSc serum. Pro-angiogenic chemokine mRNA was greater in SSc ECs than in normal ECs. SSc ECs did not migrate to vascular endothelial growth factor (VEGF), Gro-γ/CXCL3, GCP-2/CXCL6 or CXCL16. The signalling pathways stimulated by these chemokines were also dysregulated. Id-1 mRNA in SSc ECs was lower compared with normal ECs, and overexpression of Id-1 in SSc ECs increased their ability to migrate towards VEGF and CXCL16. Conclusion. Our results show that SSc ECs are unable to respond to pro-angiogenic chemokines despite their increased expression in serum and ECs. This might be due to the differences in the signalling pathways activated by these chemokines in normal vs SSc ECs. In addition, the lower expression of Id-1 also decreases the angiogenic response. The inability of pro-angiogenic chemokines to promote EC migration provides an additional mechanism for the impaired angiogenesis that characterizes SSc. PMID:26705326

  3. A long-term follow-up study of methotrexate in juvenile localized scleroderma (morphea).

    Science.gov (United States)

    Zulian, Francesco; Vallongo, Cristina; Patrizi, Annalisa; Belloni-Fortina, Anna; Cutrone, Mario; Alessio, Maria; Martino, Silvana; Gerloni, Valeria; Vittadello, Fabio; Martini, Giorgia

    2012-12-01

    Recent studies report that methotrexate (MTX) is beneficial in the treatment of juvenile localized scleroderma (JLS) but little is known about its long-term effectiveness. We assessed the therapeutic role of MTX in children with JLS who were followed up for a prolonged period. A cohort of patients with JLS, previously enrolled in a double-blind, randomized controlled trial and treated with oral MTX (15 mg/m(2)/wk) and prednisone (1 mg/kg/d, maximum 50 mg) for the first 3 months, were prospectively followed up. Lesions were evaluated clinically, with infrared thermography, and by a computerized skin score. Response to treatment was defined as: (1) no new lesions; (2) skin score rate less than 1; and (3) decrease in lesion temperature by at least 10% compared with baseline. Clinical remission (CR) on medication was defined when response was maintained, on treatment, for at least 6 months, and complete CR when response was maintained, without treatment, for at least 6 months. Of 65 patients treated with MTX, 48 (73.8%) were responders, 10 (15.4%) relapsed by 24 months since MTX start, and 7 (10.8%) were lost to follow-up. Among the responders, 35 (72.9%) maintained CR for a mean of 25 months and 13 (27.1%) were in CR on medication. Adverse effects seen in 28 patients (48.3%) were generally mild and never required treatment discontinuation. The use of objective measures not widely available, such as infrared thermography and computerized skin score, makes it difficult to compare data from previous studies. Long-term MTX therapy is beneficial and well tolerated for JLS. Copyright © 2012 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  4. Orofacial Manifestations and Temporomandibular Disorders of Systemic Scleroderma: An Observational Study

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    Vito Crincoli

    2016-07-01

    Full Text Available Scleroderma is a disorder involving oral and facial tissues, with skin hardening, thin lips, deep wrinkles, xerostomia, tongue rigidity, and microstomia. The aim of this study was to investigate the prevalence of oral manifestations and temporomandibular disorders (TMD in Systemic Sclerosis (SSc patients compared with healthy people. Eighty patients (6 men, 74 women fulfilling ACR/EULAR SSc Criteria were enrolled. A randomly selected group of 80 patients, matched by sex and age served as control group. The examination for TMD signs and symptoms was based on the standardized Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD through a questionnaire and clinical examination. SSc patients complained more frequently (78.8% of oral symptoms (Xerostomia, dysgeusia, dysphagia and stomatodynia than controls (28.7% (χ2 = 40.23 p = 0.001. TMD symptoms (muscle pain on chewing, difficulty in mouth opening, headaches were complained by 92.5% of SSc patients and by 76.2% of controls (χ2 = 8.012 p = 0.005. At the clinical examination, 85% of SSc patients showed restricted opening versus 20.0% of controls (χ2 = 67.77 p = 0.001, 81.2% of SSc showed reduced right lateral excursion versus 50% of controls (χ2 = 17.316 p = 0.001; 73.8% of SSc showed limited left lateral excursion versus 53.8% of controls (χ2 = 6.924 p = 0.009; and 73.8% of SSc had narrow protrusion versus 56.2% of controls (χ2 = 5.385 p = 0.02.

  5. Nephrogenic systemic fibrosis after application of gadolinium-based contrast agents - a status paper; Nephrogene systemische Fibrose nach Anwendung gadoliniumhaltiger Kontrastmittel - ein Statuspapier zum aktuellen Stand des Wissens

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    Heinrich, M.; Uder, M. [Erlangen-Nuernberg Univ., Erlangen (Germany). Inst. fuer Radiologie

    2007-06-15

    Recently the association of a rare disease named ''nephrogenic systemic fibrosis'' (NSF) with the administration of gadolinium-containing contrast media, especially gadodiamide (Omniscan, GE-Healthcare), was described. NSF is a scleroderma-like disease characterised by widespread tissue fibrosis. Until now, NSF cases were observed only in patients with kidney disease. Almost all patients were suffering from chronic renal insufficiency, 90 % of them required renal replacement therapy. The true incidence of the disease is unknown. First retrospective analyses of selected collectives of patients with end-stage renal disease showed 2 - 5 % cases of NSF after administration of Gadolinium-containing contrast agents with an odds ratio of 20 - 50 in comparison to non-exposed controls. NSF is a serious adverse reaction, which may result in severe disabilities and even death. Therefore all radiologists applying gadolinium-based contrast agents should be informed about this disease and the recent recommendations for its prevention. On the basis of the published data, Omniscan should not be used in patients with severe renal impairment (GFR < 30 ml/min/1.73 m{sup 2}) and those who have had or are undergoing liver transplantation. In neonates and infants up to 1 year of age, Omniscan should only be used after careful consideration. Also the other gadolinium-based contrast agents should be used in high-risk patients only after careful consideration using the lowest dose possible.

  6. Associação entre postura, função pulmonar e capacidade funcional na fibrose quística

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    J.T.S. Penafortes

    2013-01-01

    Full Text Available Resumo: Objetivos: Avaliar as correlações entre função pulmonar, capacidade funcional e postura em pacientes adultos portadores de fibrose quística (FQ. Como segundo objetivo, avaliar a correlação entre a qualidade de vida e as variáveis obtidas na avaliação postural destes pacientes. Métodos: Foi realizado um estudo transversal em que 14 portadores de FQ se submeteram à avaliação da análise postural (software de avaliação postural e provas de função pulmonar (espirometria, pletismografia de corpo inteiro e medição da capacidade de difusão do CO e capacidade funcional (teste da caminhada de 6 min. Todos os pacientes responderam ao Questionário de Fibrose Quística com Versão Revisada (QFQ-R. Resultados: A maioria dos pacientes era do sexo masculino (57%, com mediana da idade de 24,5 anos (22-34 anos. Foram observadas correlações significantes de volume expiratório máximo no primeiro segundo, distância da caminhada dos 6 min, capacidade pulmonar total e resistência de vias aéreas com o alinhamento vertical do tronco (ρ = −0,57, p < 0,05; ρ = −0,65, p < 0,01; ρ = 0,54, p < 0,05; e ρ = 0,67, p < 0,01, respetivamente. Foram observadas correlações estatisticamente significantes entre o domínio «físico» do QFQ-R e o alinhamento vertical do tórax (ρ = −0,74, p < 0,01, e entre o domínio «limitações» do QFQ-R e o ângulo do quadril (ρ = −0,55, p < 0,05. Conclusões: O presente trabalho mostra que as anormalidades na função pulmonar e na capacidade funcional se associam às alterações posturais em adultos portadores de FQ. Entretanto, a gravidade das anormalidades posturais não influenciam negativamente os domínios do QFQ-R. Abstract: Aim: The purpose of this study was to evaluate the

  7. Seguimento nutricional de pacientes com fibrose cística: papel do aconselhamento nutricional Nutritional follow-up of cystic fibrosis patients: the role of nutrition education

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    Fabíola V. Adde

    2004-12-01

    Full Text Available OBJETIVO: Avaliar o estado nutricional de um grupo de pacientes com fibrose cística e analisar a repercussão do aconselhamento nutricional através de um estudo comparativo pré- e pós-intervenção. MÉTODOS: Todos os pacientes com fibrose cística em seguimento regular no ambulatório de pneumologia do Instituto da Criança no período de 1996-99 foram prospectivamente acompanhados durante 3,5 anos. Em quatro etapas (I = inicial, II = 7 meses, III = 13 meses, IV = 43 meses, foi realizada uma avaliação nutricional que consistia de medidas de peso, estatura/comprimento, circunferência do braço e pregas cutâneas, e cálculos de escores z para peso/idade, estatura/idade, peso/estatura, circunferência do braço e da prega cutânea tricipital, porcentagem de peso/estatura e porcentagem de gordura corpórea. Era feita verificação do uso das enzimas pancreáticas e do uso de suplementos nutricionais. Aconselhamento nutricional verbal e através de uma cartilha explicativa foi realizado em todos os pacientes. RESULTADOS: Foram avaliados 74 pacientes, 38 do sexo feminino e 36 do masculino, com idades de 6 meses a 18,4 anos. Na etapa inicial, os dados antropométricos revelaram: porcentagem de peso/estatura = 94±13, porcentagem de gordura corpórea = 15±7,1, escore z peso/idade = -1,13±1,3, escore z estatura/idade = -0,94±1,2, escore z peso/estatura = -0,69±,1, escore z circunferência do braço = -1,35±1,3, escore z prega cutânea tricipital = -0,74±0,9. A aderência ao uso de enzimas e suplementos melhorou durante o estudo. Houve um aumento significativo no escore z de peso/idade e da prega tricipital e na porcentagem de gordura corpórea durante todo o período de estudo. Dividindo-se os pacientes em três grupos etários, a melhora antropométrica só foi significativa nos menores de 5 anos. CONCLUSÕES: Desnutrição leve estava presente nesse grupo de pacientes com fibrose cística. O aconselhamento nutricional realizado

  8. Fibrose quística – Caracterização clínica de uma amostra de doentes portugueses

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    Micaela Guardiano

    2005-07-01

    Full Text Available Resumo: Apesar dos rápidos avanços na compreensão dos determinantes moleculares da fibrose quística, esta continua a ser uma das doenças recessivas letais mais comuns na população caucasiana em todo o mundo. A realidade dos doentes portugueses continua a ser pouco conhecida, pela escassez de trabalhos publicados referentes à nossa população.Este trabalho tem como objectivos: fazer uma avaliação clínica de um grupo de doentes portugueses com fibrose quística, com 2 mutações identificadas e comparar a apresentação clínica de um grupo de doentes homozigóticos para a mutação F508del com doentes não homozigóticos para esta mutação.Para tal, seleccionou-se um grupo de doentes em seguimento na Consulta de Pneumologia Pediátrica do HSJ que foram caracterizados do ponto de vista fenotípico e classificados de acordo com critérios de gravidade.Todos os doentes desta amostra apresentaram mutações de classe I e/ou II, que se associam, classicamente, a fenótipo mais grave. Em conformidade com a gravidade genotípica, todos os doentes apresentaram um fenótipo de insuficiência pancreática mas com maior variabilidade de manifestações pulmonares.Não se encontraram variações significativas em termos de idade de diagnóstico, formas de apresentação e gravidade da doença entre doentes homozigóticos F508del e restantes doentes. Em contrapartida, doentes com o mesmo genótipo (homozigóticos F508del apresentaram diferentes espectros de manifestações clínicas e de gravidade fenotípica. Tanto ou mais do que a caracterização genotípica, o tempo de evolução da doença e os factores externos (nomeadamente a sujeição a estímulos infecciosos deverão interferir na gravidade do fenótipo num dado momento.Rev Port Pneumol 2005; XI (4: 381-406 Abstract: Even though there have been rapid advances in

  9. Quantitative Assessment of Skin Stiffness in Localized Scleroderma Using Ultrasound Shear-Wave Elastography.

    Science.gov (United States)

    Wang, Liyun; Yan, Feng; Yang, Yujia; Xiang, Xi; Qiu, Li

    2017-07-01

    The purpose of this study was to evaluate the usefulness of ultrasound shear-wave elastography (US-SWE) in characterization of localized scleroderma (LS), as well as in the disease staging. A total of 21 patients with 37 LS lesions were enrolled in this study. The pathologic stage (edema, sclerosis or atrophy) of the lesions was characterized by pathologic examination. The skin elastic modulus (E-values including E mean , E min , E max and E sd ) and thickness (h) was evaluated both in LS lesions and site-matched unaffected skin (normal controls) using US-SWE. The relative difference of E-values (E RD ) was calculated between each pair of lesions and its normal control for comparison among different pathologic stages. Of the 37 LS lesions, 2 were in edema, 22 were in sclerosis and 13 were in atrophy. US-SWE results showed a significant increase of skin elastic modulus and thickness in all lesions (p < 0.001 in sclerosis and p < 0.05 in atrophy) compared with the normal controls. The measured skin elastic modulus and thickness were greater in sclerosis than in atrophy. However, once normalized by skin thickness, the atrophic lesions, which were on average thinner, appeared significantly stiffer than those of the sclerosis (normalized E RD : an increase of 316.3% in atrophy vs. 50.6% in sclerosis compared with the controls, p = 0.007). These findings suggest that US-SWE allows for quantitative evaluation of the skin stiffness of LS lesions in different stages; however, the E-values directly provided by the US-SWE system alone do not distinguish between the stages, and the normalization by skin thickness is necessary. This non-invasive, real-time imaging technique is an ideal tool for assessing and monitoring LS disease severity and progression. Copyright © 2017 World Federation for Ultrasound in Medicine & Biology. Published by Elsevier Inc. All rights reserved.

  10. Results of RNV studies and /sup 201/Tl myocardial scintigraphy in patients with progressive systemic scleroderma (PSS)

    Energy Technology Data Exchange (ETDEWEB)

    Ammari, B.; Hotze, A.; Gruenwald, F.; Biersack, H.J.; Biltz, H.; Kuester, W.

    1988-12-01

    Prognosis of progressive systemic scleroderma (PSS) depends directly on the extent of visceral organ involvement, and in particular, on the cardiac, renal and pulmonary appearance. Therapeutic approaches therefore require periodic followup with non-invasive methods to evaluate the actual course of disease and the success of therapy. Tl-201 scintigraphy showed pathologic heart abnormalities in 47% and RNV in 23% of the PSS patients. Our results and published data reveal the sensitivity of both myocardial scans and RNV in the evaluation of patients with PSS. Other current methods for the diagnosis of heart diseases, however, such as echocardiography should also be performed. In patients with PSS coronary angiography, however, usually shows normal coronary vessels.

  11. Reduction of regulatory T cells in skin lesions but not in peripheral blood of patients with systemic scleroderma.

    Science.gov (United States)

    Klein, S; Kretz, C C; Ruland, V; Stumpf, C; Haust, M; Hartschuh, W; Hartmann, M; Enk, A; Suri-Payer, E; Oberle, N; Krammer, P H; Kuhn, A

    2011-08-01

    To determine the frequency and suppressive capacity of regulatory T cells (T(reg)) and their association with clinical parameters in patients with systemic scleroderma (SSc). Peripheral blood from 25 patients with SSc, 15 patients with localised scleroderma (LS) and 29 healthy controls (HC) was studied. Analysis of CD4(+) forkhead box P3 (Foxp3)(+) and CD4(+)CD25(++)Foxp3(+) T(reg) subpopulations was carried out by flow cytometry and cell proliferation was quantified by (3)H-thymidine incorporation. Quantitative analysis of T(reg) was further performed in skin biopsies from 17 patients with SSc and 21 patients with LS using anti-CD4 and anti-Foxp3 monoclonal antibodies for immunohistochemistry. The frequency of CD4(+)Foxp3(+) and CD4(+)CD25(++)Foxp3(+) T(reg) in peripheral blood from patients with SSc was not significantly different from that of patients with LS or HC. The suppressive capacity of CD4(+)CD25(++) T(reg) in SSc was also found to be similar to that of HC. Phenotypic and functional data revealed no significant difference between the limited or diffuse form of SSc. Moreover, therapy with bosentan showed no significant effect on the frequency of T(reg) during the course of the disease. However, the frequency of T(reg) in skin lesions from patients with SSc or LS, determined as the percentage of CD4(+) cells expressing Foxp3 in the inflammatory infiltrate, was significantly reduced compared with other inflammatory skin diseases. These results indicate that although the authors found no defect in the frequency or function of peripheral T(reg) subpopulations, the reduction of CD4(+)Foxp3(+) T(reg) in the skin of patients with SSc may be important in the pathogenesis of the disease.

  12. First results of functional RES scintigraphy using sup(99m)-Tc-labeled human serum albumin millimicrospheres in progressive scleroderma: Possibility of early diagnosis of lung involvement

    International Nuclear Information System (INIS)

    Munz, D.L.; Altmeyer, P.; Ehrenheim, C.; Tuengerthal, S.; Holzmann, H.; Hoer, G.; Frankfurt Univ.

    1984-01-01

    Functional RES scintigraphy with sup(99m)Tc-labeled human serum albumin millimicrospheres (sup(99m)Tc-HSA-MM) was conducted in 11 female patients suffering from progressive scleroderma. The RES scan revealed abnormalities in the bone marrow in eight patients as well as pathological changes of the liver in 2 cases. 7 patients showed diffusely enhanced concentrations of sup(99m)Tc-HSA-MM in the lung, whereas X-ray picture and pulmonary function test revealed pathological findings in only 4 patients, respectively. Humoral inflammatory and immunologic parameters, too, indicated abnormalities less frequently than the lung scan. Thus functional RES scintigraphy seems to be a very sensitive approach to the assessment and possibly to the early diagnosis of lung involvement in progressive scleroderma. (orig.) [de

  13. First results of functional RES scintigraphy using sup(99m)-Tc-labeled human serum albumin millimicrospheres in progressive scleroderma: Possibility of early diagnosis of lung involvement

    Energy Technology Data Exchange (ETDEWEB)

    Munz, D.L.; Altmeyer, P.; Ehrenheim, C.; Tuengerthal, S.; Holzmann, H.; Hoer, G.

    1984-01-01

    Functional RES scintigraphy with sup(99m)Tc-labeled human serum albumin millimicrospheres (sup(99m)Tc-HSA-MM) was conducted in 11 female patients suffering from progressive scleroderma. The RES scan revealed abnormalities in the bone marrow in eight patients as well as pathological changes of the liver in 2 cases. 7 patients showed diffusely enhanced concentrations of sup(99m)Tc-HSA-MM in the lung, whereas X-ray picture and pulmonary function test revealed pathological findings in only 4 patients, respectively. Humoral inflammatory and immunologic parameters, too, indicated abnormalities less frequently than the lung scan. Thus functional RES scintigraphy seems to be a very sensitive approach to the assessment and possibly to the early diagnosis of lung involvement in progressive scleroderma.

  14. Cyclophosphamide-refractory scleroderma-associated interstitial lung disease: remarkable clinical and radiological response to a single course of rituximab combined with high-dose corticosteroids.

    LENUS (Irish Health Repository)

    Haroon, Muhammad

    2011-10-01

    We would like to report our experience of using rituximab in cyclophosphamide refractory, rapidly progressive interstitial lung disease (ILD) in a patient with limited scleroderma. A 40-year-old man presented with 10-week history of inflammatory polyarthritis, which responded to a short course of oral corticosteroids. However, 3 weeks later, he developed new onset of exertional dyspnoea. High-resolution CT of the thorax was suggestive of early ILD. Surgical lung biopsy showed features of fibrotic non-specific interstitial pneumonia. He was diagnosed with scleroderma on the basis of: presence of anticentromere antibodies, Raynaud\\'s phenomenon, pulmonary fibrosis, digital oedema and hypomotility along with a dilated oesophagus. He was treated aggressively with pulse doses of corticosteroids and cyclophosphamide; however, his ILD continued to deteriorate. At this stage, he received rituximab (two pulses of 1 g each), which led to a gradual clinical improvement. Now, 12 months since his rituximab infusion, he walks 2 miles daily without any exertional dyspnoea.

  15. A rare association of localized scleroderma type morphea, vitiligo, autoimmune hypothyroidism, pneumonitis, autoimmune thrombocytopenic purpura and central nervous system vasculitis. Case report.

    OpenAIRE

    Bonilla Abadía, Fabio; Muñoz Buitrón, Evelyn; Ochoa, Carlos D.; Carrascal, Edwin; Cañas Dávila, Carlos Alberto

    2012-01-01

    The localized scleroderma (LS) known as morphea, presents a variety of clinical manifestations that can include systemic involvement. Current classification schemes divide morphea into categories based solely on cutaneous morphology, without reference to systemic disease or autoimmune phenomena. This classification is likely incomplete. Autoimmune phenomena such as vitiligo and Hashimoto thyroiditis associated with LS have been reported in some cases suggesting an autoimmune basis. To our kno...

  16. Capnografia volumétrica como meio de detectar obstrução pulmonar periférica precoce em pacientes com fibrose cística

    Directory of Open Access Journals (Sweden)

    Maria Ângela G. O. Ribeiro

    2012-12-01

    Full Text Available OBJETIVO: Comparar a espirometria e a capnografia volumétrica (CapV para determinar se os valores amostrados pela capnografia acrescentam informações sobre doenças pulmonares precoces em pacientes com fibrose cística (FC. MÉTODOS: Este foi um estudo do tipo corte transversal envolvendo pacientes com FC: Grupo I (42 pacientes, 6-12 anos de idade e Grupo II (22 pacientes, 13-20 anos de idade. Os grupos controle correspondentes eram formados por 30 e 50 indivíduos saudáveis, respectivamente. A capacidade vital forçada (CVF, o volume expiratório forçado no primeiro segundo (VEF1 e a relação VEF1/CVF foram determinados pela espirometria. Através da CapV, medimos a saturação periférica de oxigênio (SpO2, a frequência respiratória (FR, o tempo inspiratório (TI, o tempo expiratório (TE e o slope da fase III normalizado pelo volume corrente (slope da fase III/Vc. RESULTADOS: Em comparação com os grupos controle, todos os pacientes com FC apresentaram valores de slope da fase III/Vc (p < 0,001 mais altos independentemente do estágio de doença pulmonar. O slope da fase III/Vc foi significantemente mais alto nos 24 pacientes que tiveram resultados normais de espirometria (p = 0,018. Os pacientes do Grupo II apresentaram valores de CVF, VEF1, VEF1/CVF (p < 0,05 e SpO2 (p < 0,001 mais baixos que os pacientes do Grupo I. Os pacientes do Grupo II, comparados com os do Grupo Controle II, apresentaram FR (p < 0,001 mais alta e valores de TI e TE (p < 0,001 mais baixos. CONCLUSÕES: Todos os pacientes com FC mostraram ter valores mais altos de slope da fase III/Vc quando comparados com os pacientes dos grupos controle. A CapV identificou a heterogeneidade da distribuição da ventilação nas vias aéreas periféricas dos pacientes com FC que apresentaram espirometria normal.

  17. Colonização por Staphylococcus aureus resistente à meticilina: Que impacto na morbilidade de doentes pediátricos com fibrose quística?

    Directory of Open Access Journals (Sweden)

    Joana Fermeiro

    2010-07-01

    Full Text Available Resumo: Introdução: Ao Staphylococcus aureus resistente à meticilina (MRSA é classicamente reconhecido um papel patogénico no âmbito da fibrose quística (FQ.Objectivos: Avaliação da evolução da prevalência e incidência da colonização por MRSA, impacto clínico no ano após o primeiro isolamento, factores de risco e padrão de resistência antimicrobiana.Métodos: Estudo retrospectivo dos doentes pediátricos colonizados por MRSA seguidos no centro de FQ do Hospital de Santa Maria de 2003 a 2007.Resultados: O MRSA foi isolado em secreções respiratórias de 12 dos 60 doentes seguidos durante este período (colonização crónica em 3 doentes. A idade média à data do primeiro isolamento foi de 9 anos e 10 meses e o tempo médio entre o diagnóstico de FQ e a aquisição de MRSA de 5 anos e 7 meses.Verificou-se um aumento da prevalência e incidência de colonização por MRSA, com um máximo atingido em 2007 (prevalência 14,3% e incidência 8,9%. Quatro doentes cumpriram antibioticoterapia profiláctica antiestafilocócica com flucloxacilina.No ano após o primeiro isolamento de MRSA, constatou-se um aumento do número de dias de internamento em 4 doentes (2 com colonização crónica e deterioração da função pulmonar em 5, incluindo a totalidade dos doentes com colonização crónica. Apenas um doente apresentou diminuição de percentil de índice de massa corporal.As resistências mais frequentemente encontradas foram à rifampicina e à clindamicina.Conclusões: Este estudo revelou ocorrência de deterioração clínica relevante em doentes com colonização crónica por MRSA, reforçando a importância da implementação de estratégias eficazes e precoces de erradicação.Rev Port Pneumol 2010; XVI (4: 527-542 Abstract: Background: Methicillin-resistant Staphylococcus aureus (MRSA plays a well-recognised pathogenic role in cystic fibrosis (CF.Aims: To evaluate the prevalence and incidence of colonisation by MRSA

  18. A musculatura epaxial e a fibrose epidural na compressão medular em cães submetidos à laminectomia dorsal modificada

    Directory of Open Access Journals (Sweden)

    Diego V. Beckmann

    2010-02-01

    Full Text Available O objetivo deste experimento foi isolar a musculatura epaxial da medula espinhal de cães submetidos à laminectomia dorsal modificada (LDM e averiguar se os músculos influenciaram na formação da fibrose epidural, na compressão medular e no aparecimento dos sinais neurológicos. Para isso, dez cães hígidos foram submetidos à LDM entre as vértebras T13 e L1 e distribuídos aleatoriamente em dois grupos denominados controle (I onde a medula espinhal permaneceu exposta sem a presença de implante, e tratado (IIonde foi colocado um im-plante a base de alumínio entre a musculatura epaxial adjacente e a medula espinhal exposta pela LDM. As avaliações constaram de exames neurológicos diários até 180 dias de pós-operatório (PO; mielografia, decorridos 15, 30 e 60 dias de PO; e avaliação macroscópica mediante a reintervenção cirúrgica. Não houve diferença durante as avaliações neurológicas. Aos 15 dias de PO, foi verificado na mielografia, que o grau de compressão da linha de contraste foi maior no grupo tratado (PThe purpose of this study was to isolate the adjacent epaxial musculature from exposed spinal cord by modified dorsal laminectomy in dogs with aluminum implant and to verify whether the muscles contribute to form epidural fibrosis, spinal cord compression, and development of neurological signs. Ten dogs were submitted to modified dorsal laminectomy between T13 and L1 and then distributed along two groups. Dogs in the group 1 remained with the spinal cord exposed without the implant; dogs in the group 2 had an aluminum implant inserted between the epaxial muscles and the exposed spinal cord. Neurological examination was daily performed until 180 days post surgery. Additionally, myelography at 15, 30, and 60 days post surgery and macroscopic evaluation of the implant at six months post surgery were done. There was no difference between groups in the neurological examination. A statistical difference in the degree of

  19. Estado de Nutrição, Hábitos Alimentares e Dispêndio Energético em Crianças com Fibrose Quística

    OpenAIRE

    Guerra, Paula; Almeida, João; Rego, Carla; Nunes, Teresa; G. Vaz, Luisa; Silva, Diana; Lourenço, Susana; Ribeiro, Laura; M. Guerra, António J.

    2014-01-01

    O presente trabalho tem como objectivo avaliar o estado de nutrição, a composição corporal e a função respiratória de um grupo de crianças com fibrose quística sem evidência clínica ou laboratorial de infecção recente, assim como o de conhecer os seus hábitos alimentares e determinar o valor do dispêndio energético de repouso medido por calorimetria indirecta e o avaliado pelas equações de Schofield, da Organização Mundial de Saúde e de Fleish.População e métodos: a população é constituída po...

  20. Os pacientes invisíveis: transtorno de estresse pós-traumático em pais de pacientes com fibrose cística The invisible patients: posttraumatic stress disorder in parents of individuals with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Mariana Cabizuca

    2010-01-01

    Full Text Available CONTEXTO: Apesar do crescente reconhecimento da relevância do transtorno de estresse pós-traumático (TEPT secundário a doenças médicas, ainda não existem estudos em fibrose cística. OBJETIVO: Verificar a prevalência de TEPT e dos três grupos de sintomas de estresse pós-traumático em pais de pacientes com fibrose cística. MÉTODOS: Pais de pacientes com fibrose cística (idade média: 2 a 33 anos foram recrutados da Associação Carioca de Mucoviscidose. Neste estudo transversal, os pais preencheram um questionário sociodemográfico e foram entrevistados por meio do módulo de TEPT do Structured Clinical Interview for DSM-IV. RESULTADOS: A amostra era composta de 62 indivíduos (46 mães e 16 pais. A prevalência atual de TEPT foi 6,5% e de TEPT parcial, de 19,4%. Os pais com e sem sintomas de TEPT diferiram significativamente em dois aspectos psicossociais: os primeiros relataram mais problemas emocionais (p = 0,001 e reconheceram mais frequentemente a necessidade de tratamento psiquiátrico ou psicológico (p = 0,002 que os últimos. Entretanto, somente 6,3% dos pais com sintomas de TEPT estavam em tratamento psiquiátrico/psicológico. CONCLUSÕES: Este estudo preliminar demonstrou que a frequência dos sintomas de TEPT é bem elevada em pais de pacientes com fibrose cística e, apesar de esses pais reconheceram que tem problemas emocionais e precisam de tratamento psiquiátrico/psicológico, seu sofrimento permanece invisível para o sistema médico, levando ao subdiagnóstico e ao subtratamento.BACKGROUND: Besides the growing acknowledgment of the relevance of posttraumatic stress disorder (PTSD related to medical illness, there is no study in cystic fibrosis yet. OBJECTIVE: To assess the prevalence of PTSD and the three clusters of posttraumatic stress symptoms (PTSS in parents of patients with cystic fibrosis. METHODS: Parents of patients with cystic fibrosis (age range: 2 to 33 years were drawn from the Cystic Fibrosis

  1. Down-regulation of microRNA-196a in the sera and involved skin of localized scleroderma patients.

    Science.gov (United States)

    Makino, Takamitsu; Jinnin, Masatoshi; Etoh, Mitsuhiko; Yamane, Keitaro; Kajihara, Ikko; Makino, Katsunari; Ichihara, Asako; Igata, Toshikatsu; Sakai, Keisuke; Fukushima, Satoshi; Ihn, Hironobu

    2014-01-01

    Localized scleroderma (LSc) exhibits fibrosis of the skin and subcutaneous tissue. LSc shows an excessive deposition of type 1 collagen. To elucidate the mechanism of type 1 collagen overexpression in LSc, we investigated the epigenetics, focusing on microRNA (miRNA). miRNA expression profile was determined by PCR array analysis. The expression of microRNA-196a (miR-196a) in the skin tissue was examined by in situ hybridization or real-time PCR. The serum levels of miR-196a were measured by real-time PCR. PCR array analysis demonstrated that the miR-196a level was markedly decreased in LSc skin tissue in vivo. The transfection of specific inhibitor for miR-196a into normal cultured human dermal fibroblasts led to the up-regulation of type 1 collagen protein in vitro. Furthermore, the serum levels of miR-196a were significantly decreased in LSc patients. Down-regulation of miR-196a and subsequent overexpression of type 1 collagen in dermal fibroblasts may play a key role in the pathogenesis of LSc. The serum levels of miR-196a may be useful as a diagnostic marker of LSc.

  2. Freqüência de alterações hepáticas em pacientes com esclerodermia Frequency of hepatic abnormalities in patients with scleroderma

    Directory of Open Access Journals (Sweden)

    Ariene Paixão

    2007-10-01

    Full Text Available OBJETIVO: avaliar a freqüência das doenças hepáticas em pacientes com esclerodermia e, secundariamente, estudar a freqüência de infecção pelos vírus B e C da hepatite nesses pacientes, assim como a freqüência de auto-anticorpos séricos. MATERIAL E MÉTODOS: estudaram-se pacientes com diagnóstico de esclerodermia, localizada ou sistêmica, acompanhados no Ambulatório de Reumatologia do Hospital Santa Izabel. Como grupo de comparação, foram estudados pacientes com diagnóstico de acne vulgar. RESULTADOS: dos 65 pacientes com diagnóstico de esclerodermia incluídos nesse trabalho, 35% apresentaram a gama-glutamiltransferase (gama-GT alterada, 30% tiveram a fosfatase alcalina aumentada e 17,1%, a alaninoaminotransferase (ALT acima dos valores de referência. A ALT apresentou-se mais alterada nos pacientes do que nos controles. Apenas um indivíduo dos 41 testados apresentou positividade para o anticorpo antimitocôndria enquanto 19% tinham anticorpo antimúsculo liso, não se observando diferença estatística na positividade desses anticorpos entre os dois grupos. Um paciente apresentou o HBsAg positivo e outro foi positivo para o anticorpo anti-HCV. Nenhum paciente apresentou manifestações clínicas de doença hepática. CONCLUSÕES: no presente estudo, embora as alterações de enzimas hepáticas em pacientes com esclerodermia não tenham sido incomuns, não se observou nenhum caso com manifestações clínicas de doença hepática.INTRODUCTION: to determine the frequency of hepatic disease in patients with scleroderma and, secondarily, to investigate the frequency of hepatitis B and C virus infection and determine the frequency of autoantibodies in this disease. MATERIAL AND METHODS: patients with scleroderma followed at Hospital Santa Izabel were included in the study and patients with acne vulgaris served as a comparison group. RESULTS: considering the 65 scleroderma patients, 35% had elevated gamma

  3. Localized scleroderma: assessment of the therapeutic response to phototherapy Esclerodermia cutânea: avaliação da resposta terapêutica à fototerapia

    Directory of Open Access Journals (Sweden)

    Roberta Buense

    2012-02-01

    Full Text Available BACKGROUND: Scleroderma is a chronic autoimmune disease characterized by progressive connective tissue sclerosis and microcirculatory changes. Localized scleroderma is considered a limited disease. However, in some cases atrophic and deforming lesions may be observed that hinder the normal development. Literature reports indicate phototherapy as a therapeutic modality with favorable response in cutaneous forms of scleroderma. OBJECTIVES: This study had the purpose of assessing the phototherapy treatment for localized scleroderma. METHODS: Patients with localized scleroderma were selected for phototherapy treatment. They were classified according to the type of localized scleroderma and evolutive stage of the lesions. Clinical examination and skin ultrasound were used to demonstrate the results thus obtained. RESULTS: Some clinical improvement was observed after an average of 10 phototherapeutic sessions. All skin lesions were softer at clinical palpation with scores reduction upon pre and post treatment comparison. The ultrasound showed that most of the assessed lesions presented a decrease in dermal thickness, and only five maintained their previous measure. Treatment response was similar regardless of the type of phototherapeutic treatment employed. CONCLUSIONS: The proposed treatment was effective for all lesions, regardless of the phototherapeutic modality employed. The improvement was observed in all treated skin lesions and confirmed by clinical evaluation and skin ultrasound.FUNDAMENTOS: A esclerodermia é uma doença autoimune caracterizada pela esclerose progressiva do tecido conjuntivo e alterações da microcirculação. A forma cutânea é considerada uma doença autolimitada. No entanto, em alguns casos, ocorrem lesões atróficas, deformantes, que dificultam o desenvolvimento normal. Relatos da literatura apontam a fototerapia como uma modalidade terapêutica com resposta favorável nas formas cutâneas da esclerodermia. OBJETIVOS

  4. Localized morphea. A rare but significant secondary complication following breast cancer radiotherapy. Case report and review of the literature on radiation reaction among patients with scleroderma/morphea

    International Nuclear Information System (INIS)

    Herrmann, Thomas; Csere, Peter; Guenther, Claudia

    2009-01-01

    Purpose and approach: to report a case of morphea (localized scleroderma) in a patient following breast cancer therapy and to summarize the current literature. Results and conclusion: the occurrence of morphea is an unexpected late effect (approximately 1 year after the end of radiation therapy) which occurs frequently in the irradiated breast in women with breast-conserving therapy. The pathogenesis is unclear. The main differential diagnoses are recurrence of carcinoma and a radiogenic subcutaneous fibrosis (in most cases, the final diagnosis can only be made by means of a biopsy). Diagnosis and therapy must be performed in cooperation between dermatologist and radiooncologist. (orig.)

  5. Localized morphea. A rare but significant secondary complication following breast cancer radiotherapy. Case report and review of the literature on radiation reaction among patients with scleroderma/morphea

    Energy Technology Data Exchange (ETDEWEB)

    Herrmann, Thomas; Csere, Peter [Dept. of Radiotherapy and Radiooncology, Medical Faculty Carl Gustav Carus, Univ. of Technology, Dresden (Germany); Guenther, Claudia [Dept. of Dermatology, Medical Faculty Carl Gustav Carus, Univ. of Technology, Dresden (Germany)

    2009-09-15

    Purpose and approach: to report a case of morphea (localized scleroderma) in a patient following breast cancer therapy and to summarize the current literature. Results and conclusion: the occurrence of morphea is an unexpected late effect (approximately 1 year after the end of radiation therapy) which occurs frequently in the irradiated breast in women with breast-conserving therapy. The pathogenesis is unclear. The main differential diagnoses are recurrence of carcinoma and a radiogenic subcutaneous fibrosis (in most cases, the final diagnosis can only be made by means of a biopsy). Diagnosis and therapy must be performed in cooperation between dermatologist and radiooncologist. (orig.)

  6. Fibrose pulmonar idiopática simultânea a enfisema em pacientes tabagistas Idiopathic pulmonary fibrosis and emphysema in smokers

    Directory of Open Access Journals (Sweden)

    Denise Rossato Silva

    2008-10-01

    Full Text Available OBJETIVO: Descrever os achados clínicos e funcionais de pacientes com enfisema em lobos superiores e fibrose pulmonar idiopática (FPI em lobos inferiores, recentemente descrita na literatura. MÉTODOS: Um grupo de 11 pacientes com a presença simultânea de enfisema e FPI foi identificado retrospectivamente. Todos os pacientes realizaram tomografia computadorizada de tórax com alta resolução e provas de função pulmonar. RESULTADOS: Entre os 11 pacientes identificados, havia 8 homens e 3 mulheres, com média de idade de 70,7 ± 7,2 anos (variação, 61-86 anos. Todos os pacientes eram tabagistas (carga tabágica, 61,5 ± 43,5 anos-maço. As médias da capacidade vital forçada (CVF, do volume expiratório forçado no primeiro segundo (VEF1 e da relação VEF1/CVF foram 72,1% ± 12,7%, 68,2% ± 11,9% e 74,4 ± 10,8, respectivamente. Os volumes pulmonares foram normais em 7 pacientes. Um padrão restritivo foi observado em 3 pacientes e hiperinsuflação estava presente em um. A capacidade de difusão pulmonar apresentou redução moderada a grave em todos os pacientes (média, 27,7% ± 12,9% do previsto. No teste da caminhada de seis minutos, realizado por 10 pacientes, a distância caminhada média foi de 358,4 ± 143,1 m, ocorrendo dessaturação >4% em 9 pacientes. Achados ecocardiográficos sugestivos de hipertensão pulmonar estavam presentes em 4 pacientes (média da pressão sistólica da artéria pulmonar, 61,8 mmHg; variação, 36-84 mmHg. CONCLUSÕES: A presença simultânea de enfisema e FPI causa alterações características nas provas de função pulmonar. O achado mais importante é a discrepância entre a capacidade de difusão e a espirometria.OBJECTIVE: To describe the clinical and functional findings recently reported in the medical literature for patients diagnosed with emphysema involving the upper lobes and idiopathic pulmonary fibrosis (IPF involving the lower lobes. METHODS: Eleven patients with emphysema and IPF

  7. Functional and phenotypical comparison of myofibroblasts derived from biopsies and bronchoalveolar lavage in mild asthma and scleroderma

    Directory of Open Access Journals (Sweden)

    Hansson Lennart

    2006-01-01

    Full Text Available Abstract Background Activated fibroblasts, which have previously been obtained from bronchoalveolar lavage fluid (BALF, are proposed to be important cells in the fibrotic processes of asthma and scleroderma (SSc. We have studied the motility for BALF derived fibroblasts in patients with SSc that may explain the presence of these cells in the airway lumen. Furthermore, we have compared phenotypic alterations in activated fibroblasts from BALF and bronchial biopsies from patients with mild asthma and SSc that may account for the distinct fibrotic responses. Methods Fibroblasts were cultured from BALF and bronchial biopsies from patients with mild asthma and SSc. The motility was studied using a cell migration assay. Western Blotting was used to study the expression of alpha-smooth muscle actin (α-SMA, ED-A fibronectin, and serine arginine splicing factor 20 (SRp20. The protein expression pattern was analyzed to reveal potential biomarkers using two-dimensional electrophoresis (2-DE and sequencing dual matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF-TOF. The Mann-Whitney method was used to calculate statistical significance. Results Increased migration and levels of ED-A fibronectin were observed in BALF fibroblasts from both groups of patients, supported by increased expression of RhoA, Rac1, and the splicing factor SRp20. However, these observations were exclusively accompanied by increased expression of α-SMA in patients with mild asthma. Compared to BALF fibroblasts in mild asthma, fibroblasts in SSc displayed a differential protein expression pattern of cytoskeletal- and scavenger proteins. These identified proteins facilitate cell migration, oxidative stress, and the excessive deposition of extracellular matrix observed in patients with SSc. Conclusion This study demonstrates a possible origin for fibroblasts in the airway lumen in patients with SSc and important differences between fibroblast

  8. Esophageal Motor Abnormalities in Patients With Scleroderma: Heterogeneity, Risk Factors, and Effects on Quality of Life.

    Science.gov (United States)

    Crowell, Michael D; Umar, Sarah B; Griffing, W Leroy; DiBaise, John K; Lacy, Brian E; Vela, Marcelo F

    2017-02-01

    Systemic scleroderma (SSc) is associated with esophageal aperistalsis and hypotensive esophagogastric junction pressure, although there could be a gradation in esophageal motor dysfunction. We characterized esophageal motor function by high-resolution esophageal manometry (HRM) and assessed associations between SSc severity, health-related quality of life (HRQOL), and HRM findings in patients. We performed a prospective study of 200 patients with SSc and 102 patients without SSc (controls) who underwent HRM at Mayo Clinic Arizona from May 2006 through January 2015. We used data on integrated relaxation pressure, distal contractile integral, and distal latency to classify esophageal motility disorders according to the Chicago Classification v 3.0. A subset of subjects (n = 122) completed SSc-specific gastrointestinal symptom and HRQOL questionnaires. HRM findings, symptoms, and HRQOL data were compared among diffuse SSc, limited SSc, and control subjects. Categorical variables were compared by using the χ 2 or Fisher exact test; continuous variables were compared by using Mann-Whitney or Kruskal-Wallis test. Multivariable logistic regression was used to assess the association between severity of esophageal dysmotility and baseline clinical factors. Among patients with SSc, 83 had diffuse SSc (42%), and 117 had limited SSc (58%). Absent contractility was more frequent in patients with SSc than in controls (56% vs 13%; P esophagus (esophagogastric junction pressure with absent contractility) was only observed in 33% of patients (34% with diffuse SSc vs 32% limited SSc) (P = .880). Severe esophageal dysmotility was associated with disease duration, interstitial lung disease, and higher gastrointestinal symptom scores (P esophagus in only one-third of patients with SSc. Esophageal motor function appears to be heterogeneous in SSc. Esophageal dysmotility reduces HRQOL in patients with SSc. Copyright © 2017 AGA Institute. Published by Elsevier Inc. All rights reserved.

  9. Pressure and pain In Systemic sclerosis/Scleroderma - an evaluation of a simple intervention (PISCES: randomised controlled trial protocol

    Directory of Open Access Journals (Sweden)

    Alcacer-Pitarch Begonya

    2012-02-01

    Full Text Available Abstract Background Foot problems associated with Systemic Sclerosis (SSc/Scleroderma have been reported to be both common and disabling. There are only limited data describing specifically, the mechanical changes occurring in the foot in SSc. A pilot project conducted in preparation for this trial confirmed the previous reports of foot related impairment and reduced foot function in people with SSc and demonstrated a link to mechanical etiologies. To-date there have been no formal studies of interventions directed at the foot problems experienced by people with Systemic Sclerosis. The primary aim of this trial is to evaluate whether foot pain and foot-related health status in people with Systemic Sclerosis can be improved through the provision of a simple pressure-relieving insole. Methods The proposed trial is a pragmatic, multicenter, randomised controlled clinical trial following a completed pilot study. In four participating centres, 140 consenting patients with SSc and plantar foot pain will be randomised to receive either a commercially available pressure relieving and thermally insulating insole, or a sham insole with no cushioning or thermal properties. The primary end point is a reduction in pain measured using the Foot Function Index Pain subscale, 12 weeks after the start of intervention. Participants will complete the primary outcome measure (Foot Function Index pain sub-scale prior to randomisation and at 12 weeks post randomisation. Secondary outcomes include participant reported pain and disability as derived from the Manchester Foot Pain and Disability Questionnaire and plantar pressures with and without the insoles in situ. Discussion This trial protocol proposes a rigorous and potentially significant evaluation of a simple and readily provided therapeutic approach which, if effective, could be of a great benefit for this group of patients. Trial registration number ISRCTN: ISRCTN02824122

  10. Reliability of digital ulcer definitions as proposed by the UK Scleroderma Study Group: A challenge for clinical trial design.

    Science.gov (United States)

    Hughes, Michael; Tracey, Andrew; Bhushan, Monica; Chakravarty, Kuntal; Denton, Christopher P; Dubey, Shirish; Guiducci, Serena; Muir, Lindsay; Ong, Voon; Parker, Louise; Pauling, John D; Prabu, Athiveeraramapandian; Rogers, Christine; Roberts, Christopher; Herrick, Ariane L

    2018-06-01

    The reliability of clinician grading of systemic sclerosis-related digital ulcers has been reported to be poor to moderate at best, which has important implications for clinical trial design. The aim of this study was to examine the reliability of new proposed UK Scleroderma Study Group digital ulcer definitions among UK clinicians with an interest in systemic sclerosis. Raters graded (through a custom-built interface) 90 images (80 unique and 10 repeat) of a range of digital lesions collected from patients with systemic sclerosis. Lesions were graded on an ordinal scale of severity: 'no ulcer', 'healed ulcer' or 'digital ulcer'. A total of 23 clinicians - 18 rheumatologists, 3 dermatologists, 1 hand surgeon and 1 specialist rheumatology nurse - completed the study. A total of 2070 (1840 unique + 230 repeat) image gradings were obtained. For intra-rater reliability, across all images, the overall weighted kappa coefficient was high (0.71) and was moderate (0.55) when averaged across individual raters. Overall inter-rater reliability was poor (0.15). Although our proposed digital ulcer definitions had high intra-rater reliability, the overall inter-rater reliability was poor. Our study highlights the challenges of digital ulcer assessment by clinicians with an interest in systemic sclerosis and provides a number of useful insights for future clinical trial design. Further research is warranted to improve the reliability of digital ulcer definition/rating as an outcome measure in clinical trials, including examining the role for objective measurement techniques, and the development of digital ulcer patient-reported outcome measures.

  11. Access to care for children and young people diagnosed with localized scleroderma or juvenile SSc in the UK.

    Science.gov (United States)

    Hawley, Daniel P; Baildam, Eileen M; Amin, Tania S; Cruikshank, Mary K; Davidson, Joyce E; Dixon, Jennifer; Martin, Neil S; Ohlsson, Victoria; Pilkington, Clarissa; Rangaraj, Satyapal; Riley, Philip; Sundaramoorthy, Chitra; Walsh, Jo; Foster, Helen E

    2012-07-01

    To describe pathways of care and referral to paediatric rheumatology from onset of first symptom (noticed by the patient or their family) to diagnosis for children and young people diagnosed with localized scleroderma (LS) or juvenile SSc (jSSc). Retrospective case note audit of patients under paediatric rheumatology care who presented during January 2005-January 2010. Data included disease subtype, sex, age at key points in the referral pathway and health care professional (HCP) contact. All patient and HCP data were pseudo-anonymized in accordance with good clinical practice. Data were from eight UK centres that saw 89 cases: 62 females, 26 males; 73 LS, 16 jSSc. Median time from first symptom to first HCP review was 4 (range 0-72) months (LS) and 1 (range 0-50) month (jSSc). Median time from first symptom to paediatric rheumatology review was 15 (range 1-103) months (LS) and 7 (range 0-50) months (jSSc). Median time from first HCP review to first paediatric rheumatology review was 11 (range 0-103) months (LS) and 2 (range 0-10) months. First HCP seen (74%) was usually a general practitioner. The referring HCP to paediatric rheumatology was usually a dermatologist (56%) for LS. Median time from first symptom to diagnosis was 13 (range 1-102) months (LS) and 8 (range 1-50) months (jSSc). A prolonged interval occurs from first symptom to definitive diagnosis, which may adversely affect outcome. There is a need to raise awareness of this rare diagnosis and facilitate earlier recognition.

  12. Quantification of differences between nailfold capillaroscopy images with a scleroderma pattern and normal pattern using measures of geometric and algorithmic complexity.

    Science.gov (United States)

    Urwin, Samuel George; Griffiths, Bridget; Allen, John

    2017-02-01

    This study aimed to quantify and investigate differences in the geometric and algorithmic complexity of the microvasculature in nailfold capillaroscopy (NFC) images displaying a scleroderma pattern and those displaying a 'normal' pattern. 11 NFC images were qualitatively classified by a capillary specialist as indicative of 'clear microangiopathy' (CM), i.e. a scleroderma pattern, and 11 as 'not clear microangiopathy' (NCM), i.e. a 'normal' pattern. Pre-processing was performed, and fractal dimension (FD) and Kolmogorov complexity (KC) were calculated following image binarisation. FD and KC were compared between groups, and a k-means cluster analysis (n  =  2) on all images was performed, without prior knowledge of the group assigned to them (i.e. CM or NCM), using FD and KC as inputs. CM images had significantly reduced FD and KC compared to NCM images, and the cluster analysis displayed promising results that the quantitative classification of images into CM and NCM groups is possible using the mathematical measures of FD and KC. The analysis techniques used show promise for quantitative microvascular investigation in patients with systemic sclerosis.

  13. Quantitative texture-based assessment of one-year changes in fibrotic reticular patterns on HRCT in scleroderma lung disease treated with oral cyclophosphamide

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Hyun J.; Brown, Matthew S. [David Geffen School of Medicine, UCLA, Center for Computer Vision and Imaging Biomarker, Department of Radiological Sciences, Los Angeles, CA (United States); Elashoff, Robert [David Geffen School of Medicine, UCLA, Department of Biostatistics and Biomathematics, Los Angeles, CA (United States); Li, Gang [School of Public Health, UCLA, Department of Biostatistics, Los Angeles, CA (United States); Gjertson, David W. [School of Public Health and David Geffen School of Medicine, UCLA, Department of Biostatistics and Pathology, Los Angeles (United States); Lynch, David A. [National Jewish Health, Radiology Department, Denver, CO (United States); Strollo, Diane C. [UPMC Presbyterian, Radiology Department, Pittsburgh, PA (United States); Kleerup, Eric; Tashkin, Donald P. [David Geffen School of Medicine, UCLA, Department of Med-Pul and Critical Care, Los Angeles, CA (United States); Chong, Daniel; Shah, Sumit K.; Ahmad, Shama; Abtin, Fereidoun; Goldin, Jonathan G. [David Geffen School of Medicine, UCLA, Department of Radiological Sciences, Los Angeles, CA (United States)

    2011-12-15

    The Scleroderma Lung Study showed the efficacy of cyclophosphamide in modestly improving the forced vital capacity (FVC) compared with placebo over 1 year. Using changes in texture-based scores that quantify lung fibrosis as the percentage involvement of reticulation patterns, the effectiveness of cyclophosphamide was re-assessed by examining its impact on quantitative lung fibrosis (QLF). Axial HRCT images were acquired (1-mm slice thickness, 10-mm increments) in the prone position at inspiration. A validated model for quantifying interstitial disease patterns was applied to images from 83 subjects at baseline and 12 months. Scores were calculated for six zones (upper, mid, lower of the right/left lung) and the whole lung. Average changes were compared. Correlations were performed between QLF and physiological and clinical scores. From the most severe zones identified at baseline, QLF scores decreased by 2.6% in the cyclophosphamide group, whereas they increased by 9.1% in the placebo group, leading to {proportional_to}12% difference (p = 0.0027). Between-treatment difference in whole lung QLF was {proportional_to}5% (p = 0.0190). Significant associations were observed between changes in QLF and FVC (r = -0.33), dyspnea score (r = -0.29), and consensus visual score (p = 0.0001). QLF scores provide an objective quantitative tool for assessing treatment efficacy in scleroderma-related interstitial lung disease. (orig.)

  14. Quantitative texture-based assessment of one-year changes in fibrotic reticular patterns on HRCT in scleroderma lung disease treated with oral cyclophosphamide

    International Nuclear Information System (INIS)

    Kim, Hyun J.; Brown, Matthew S.; Elashoff, Robert; Li, Gang; Gjertson, David W.; Lynch, David A.; Strollo, Diane C.; Kleerup, Eric; Tashkin, Donald P.; Chong, Daniel; Shah, Sumit K.; Ahmad, Shama; Abtin, Fereidoun; Goldin, Jonathan G.

    2011-01-01

    The Scleroderma Lung Study showed the efficacy of cyclophosphamide in modestly improving the forced vital capacity (FVC) compared with placebo over 1 year. Using changes in texture-based scores that quantify lung fibrosis as the percentage involvement of reticulation patterns, the effectiveness of cyclophosphamide was re-assessed by examining its impact on quantitative lung fibrosis (QLF). Axial HRCT images were acquired (1-mm slice thickness, 10-mm increments) in the prone position at inspiration. A validated model for quantifying interstitial disease patterns was applied to images from 83 subjects at baseline and 12 months. Scores were calculated for six zones (upper, mid, lower of the right/left lung) and the whole lung. Average changes were compared. Correlations were performed between QLF and physiological and clinical scores. From the most severe zones identified at baseline, QLF scores decreased by 2.6% in the cyclophosphamide group, whereas they increased by 9.1% in the placebo group, leading to ∝12% difference (p = 0.0027). Between-treatment difference in whole lung QLF was ∝5% (p = 0.0190). Significant associations were observed between changes in QLF and FVC (r = -0.33), dyspnea score (r = -0.29), and consensus visual score (p = 0.0001). QLF scores provide an objective quantitative tool for assessing treatment efficacy in scleroderma-related interstitial lung disease. (orig.)

  15. MRI of the fingers in patients with systemic scleroderma. Early results of contrast-enhanced examinations on a dedicated MRI system

    International Nuclear Information System (INIS)

    Bonel, H.; Seemann, M.; Reiser, M.; Messer, G.; Walchner, M.; Roecken, M.

    1997-01-01

    Purpose. To estimate disease activity in patients with systemic sclerosis using contrast-enhanced MRI of the skin. Material and Methods. In a pre-study, sequences of a low-field (0.2 T) scanner (Artoscan, Esaote, Genova, Italy) were optimized for detection of intravenous contrast (0.1 mmol/l Gd-DTPA) in six patients with the autoimmune disease systemic scleroderma. Based on the results of the pre-study, 17 patients with scleroderma (7 sclerotic/10 active inflammatory disease) were scanned using gradient-spoiled 3D GRE sequences (FA 90 , TR 100 ms, TE 18 ms), which had been established as most sensitive for intravenous contrast. Contrast enhancement of the skin was determined quantitatively by contrast-to-noise ratios (CNR), comparing post- to pre-contrast and dynamic scans (for 6 min, 1 acquisition/min). Patients in the chronic state with sclerodactylia and active inflammation of the hands were considered separately and compared to a control group (n=10) matched according to age. Results. CNR increase after intravenous contrast was significantly higher in patients with active disease (86±16% increase) than sclerosing disease (29±3%, p [de

  16. Pulsed dye laser in the treatment of localized scleroderma and its effects on CD34+ and factor XIIIa+ cells: an immunohistochemical study.

    Science.gov (United States)

    Tawfik, Abeer Attia; Shokir, Hisham; Soliman, Mona; Salah, Lila; Fathy, Sahar

    2013-06-01

    Localized scleroderma (morphea) is characterized by hardening and thickening of the dermis due to excessive collagen deposition. A decreased number of CD34+ cells and an increased number of Factor XIIIa+ cells are seen in the affected skin. The flashlamp pulsed dye laser (FLPDL) has been used in the treatment of localized morphea with promising results. The purpose of this study was to evaluate the therapeutic effectiveness of the pulsed dye laser in localized scleroderma and to assess its effect on CD34+ cells, Factor XIIIa+ cells, and blood vessels. Thirty patients with plaque morphea were treated with a FLPDL (585 nm wavelength, 450 μs pulse duration). Fluence ranged from 7.5 to 8.5 J/cm(2). Sessions were performed biweekly for a maximum of 6 months. Clinical, histopathologic, and immunohistochemical assessments were performed. Patients showed varying degrees of improvement of indurated skin. There was no worsening or further improvement at the treated sites during the follow-up assessments at 3, 6, and 12 months. An increased number of CD34+ cells were found in both the upper and the lower dermis, and a decreased number of Factor XIIIa+ cells were found in the lower dermis. The FLPDL is effective in the treatment of morphea, as confirmed by the changes in the pathologic tissue and levels of CD34+ and Factor XIIIa+ cells.

  17. Valor preditivo de marcadores séricos de fibrose hepática em pacientes portadores de hepatite crônica viral C Predictive value of serum markers of hepatic fibrosis in patients with chronic hepatitis C

    Directory of Open Access Journals (Sweden)

    Leila Maria Soares Tojal de Barros Lima

    2008-06-01

    Full Text Available INTRODUÇÃO: Os marcadores séricos têm sido empregados na avaliação da fibrose hepática em pacientes portadores de hepatite crônica C (HCC. OBJETIVOS: Avaliar a capacidade do índice aspartato aminotransferase (AST/alanina aminotransferase (ALT, dos níveis séricos de gama-glutamiltransferase (GGT, contagem de plaquetas, do índice AST/plaquetas (APRI e do ácido hialurônico (AH em predizer a intensidade da fibrose hepática na HCC e a variação desses marcadores após tratamento com interferon. PACIENTES E MÉTODOS: Em 72 pacientes portadores de hepatite C determinamos no soro o índice AST/ALT, GGT, plaquetas, índice APRI (obtido pelo quociente AST/plaquetas e o AH, que foram comparados ao estadiamento histológico, segundo os critérios de METAVIR. Receberam tratamento com interferon e ribavirina 65 pacientes. Os indivíduos que concluíram o tratamento (n = 33 realizaram nova dosagem dos marcadores séricos de fibrose para comparar com os níveis pré-tratamento. RESULTADOS: Observamos que a GGT, a contagem de plaquetas, o índice APRI e o AH se correlacionaram com estádio de doença hepática (p INTRODUCTION: Serum markers have been used in the assessment of liver fibrosis in patients with chronic hepatitis C (CHC. AIMS: We evaluated the capacity of aspartate aminotransferase (AST/alanine aminotransferase (ALT ratio, gama-glutamyltransferase (GGT levels, platelet count, the AST to platelet ratio index (APRI and serum hyaluronic acid (HA to predict the intensity of hepatic fibrosis in patients with CHC and the variation of these markers after therapy with interferon. PATIENTS AND METHODS: In 72 patients with hepatitis C, AST/ALT ratio, GGT levels, platelet count, the APRI index (calculated as the ratio of AST to platelets and serum HA concentration were determined and compared to histological staging according to the scoring system of METAVIR. Sixty-five patients received interferon and ribavirin therapy. The individuals that

  18. THE REAL PREVALENCE OF EROSIVE ESOPHAGITIS AND BARRETT'S ESOPHAGUS IN SYSTEMIC SCLERODERMA: DATA FROM 12-MONTHS PROSPECTIVE STUDY

    Directory of Open Access Journals (Sweden)

    Andrey Evgenievich Karateev

    2012-01-01

    Full Text Available Complicated forms of reflux-esophagitis, i.e., erosive esophagitis and Barrett's esophagus (BE — are common types of visceral pathology in systemic scleroderma (SSD, which require adequate therapy and follow up. Although real prevalence of esophageal involvement in SSD in Russian patients remains uncertain. Objective — to identify prevalence of erosive esophagitis and BE, and to quantify gastro-intestinal (GI symptoms in patients with SSD. Material and methods. During 1 year (December 2009 — January 2011 all consecutive SSD patients, hospitalized to FSBI «SRIR» RAMS, after signing informed consent, were subjected to esophagogastroduodenoscopy with biopsy of esophageal mucosa in upper 1/3. Totally 123 patients were examined (96,8% females, 3,2% males, aged 50,5±13,1 years. Esophageal mucous was evaluated for presence of pathologic changes and BE (intestinal metaplasia in biopsy samples was a BE diagnostic criterion. SODA questionnaire was used to quantify GIT symptoms Results. Erosive esophagitis was detected in 30 (24,3% patients, BE — in 11 (8,9%. In 80% of patients marked changes in esophageal mucosa were associated with typical symptoms (heartburn, regurgitaion, dysphagia, while in some cases (in 3 patients erosive esophagitis and BE were asymptomatic. Quantitative evaluation of symptoms with SODA questionnaire demonstrated clear correlation between subjective assessment and severity of esophageal pathologic changes. In patients with erosive gastritis and BE the SODA «pain» and «non-pain» parameters scores were significantly higher and satisfaction in dyspepsia management was lower (p<0,05, then in individuals without erosions and mucosal inflammation. Here was no clear correlation between esophageal pathology and SSD type (limited, diffuse, age, duration of the disease, presence of pulmonary interstitial lesion and Sjogren's syndrome. Patients with erosive esophagitis were significantly more often (36,6% using proton pomp

  19. Avaliação e recomendações nutricionais para crianças e adolescentes com fibrose cística Nutritional assessment and recommendations for children and adolescents with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Célia Regina M. M. Chaves

    2012-01-01

    Full Text Available OBJETIVO: Revisar e discutir evidências sobre a avaliação do estado nutricional e as recomendações para o tratamento nutricional de crianças e adolescentes com fibrose cística. FONTES DE DADOS: Bancos de dados MEDLINE (versão PubMed e Latin American and Caribbean Center on Health Sciences Information (LILACS, entre 1984 a 2009. Aplicou-se a combinação dos seguintes descritores: fibrose cística, estado nutricional, criança e adolescente - em inglês e português. SÍNTESE DOS DADOS: A fibrose cística é uma doença genética, de evolução crônica, progressiva e fatal. Resulta do defeito na proteína reguladora transmembrana que regula a condução de cloro e, consequentemente, o fluxo de sódio e água através da membrana apical das células epiteliais. Pacientes fibrocísticos são vulneráveis à desnutrição, que resulta do desequilíbrio entre ingestão alimentar, gasto e perdas energéticas. Novos conhecimentos sobre a fisiopatologia da doença, adquiridos nas últimas décadas, resultaram em mudanças significativas nas atuais recomendações energéticas e principalmente de lipídeos. A importância da nutrição no bem-estar e sobrevida dos fibrocísticos está bem estabelecida, assim como a associação entre a desnutrição e a deterioração da função pulmonar. Existem múltiplos fatores inter-relacionados que afetam o estado nutricional, tais como, mutação genética, insuficiência pancreática, ressecção intestinal, perda de sais e ácidos biliares, refluxo gastroesofágico, inflamação e infecções pulmonares, diabetes e condições emocionais. CONCLUSÕES: O monitoramento nutricional e o aconselhamento dietético são elementos chave no manejo de crianças e adolescentes com fibrose cística com o intuito de controlar a sintomatologia e a progressão da doença, proporcionando melhor qualidade de vida.OBJECTIVE: To review and discuss evidence on the nutritional status assessment and recommendations for

  20. Forma acelerada da fibrose pulmonar idiopática no pulmão nativo após transplante pulmonar unilateral Accelerated form of interstitial pulmonary fibrosis in the native lung after single lung transplantation

    Directory of Open Access Journals (Sweden)

    Rogério Rufino

    2007-12-01

    Full Text Available Relatamos o caso de um paciente de 56 anos submetido a transplante pulmonar unilateral esquerdo em decorrência de fibrose pulmonar idiopática (FPI. No pós-operatório imediato, sob intensa imunossupressão, houve progressão rápida da FPI no pulmão nativo direito, confirmada pela biópsia pulmonar videotoracoscópica, necessitando de ventilação mecânica durante 104 dias até a realização de outro transplante pulmonar à direita. Obteve alta hospitalar após o 26º dia do segundo pós-operatório.We report the case of a 56-year-old patient who underwent left single lung transplantation for idiopathic pulmonary fibrosis (IPF. Despite the high level of immunosuppression after the surgery, there was rapid progression to IPF in the native (right lung as demonstrated by thoracoscopic lung biopsy. After 104 days on mechanical ventilation (MV, the patient underwent right lung transplant and was discharged from the hospital on postoperative day 26.

  1. EVOLUÇÃO DA FIBROSE BILIAR SECUNDÁRIA EM RATOS TRATADOS MEDIANTE DERIVAÇÃO BÍLIO-DUODENAL OU BÍLIO-JEJUNAL COM AL��A DE ROUX MEDINDO 5, 10 E 15 CM

    Directory of Open Access Journals (Sweden)

    Pandolfi Jr. H.

    2001-01-01

    Full Text Available A modalidade de derivação bílio-digestiva empregada no tratamento da colestase extra-hepática crônica pode influenciar na reparação das lesões hepáticas. Avaliou-se o desempenho das derivações bílio-duodenal e bílio-jejunal em Y de Roux com alça exclusa de diferentes comprimentos na reparação das lesões morfológicas e funcionais do fígado de ratos com fibrose biliar secundária. Foram utilizados ratos Wistar, com 15 dias de obstrução biliar, alocados em 5 grupos de 6 animais. O grupo OB caracterizou as alterações da fibrose biliar. Os animais remanescentes foram tratados mediante derivação com o duodeno (grupo DBD, e com o jejuno, em alça exclusa de 5cm (grupo DBJ5, 10cm (grupo DBJ10 e 15cm (grupo DBJ15, sendo reavaliados 3 meses depois. Outros 6 animais foram submetidos à intervenção simulada e considerados grupo controle (IS. Todos animais foram submetidos à avaliação morfométrica do fígado, análise bioquímica do sangue e microbiológica da bile, estudo da função mitocondrial hepática e verificação do peso úmido do fígado e do baço. Na análise estatística adotou-se o nível de significância de 5%. Houve aumento significativo do peso estimado, em g/Kg de peso corporal, dos ductos biliares, da fibrose e dos hepatócitos nos animais do grupo OB (medianas de 1,30; 10,03 e 37,0 em relação aos animais controles (IS (medianas de 0,03; zero e 29,37. Após tratamento, ocorreu regressão significativa do peso estimado dos ductos biliares e da fibrose, com valores medianos de 0,22 e 0,22 para o grupo DBD, 0,45 e 3,31 para o grupo DBJ5 e 0,22 e 5,0 para o grupo DBJ15. Houve regressão significativa do peso estimado dos hepatócitos apenas nos grupos derivados com o jejuno, com valores medianos de 31,93; 24,46 e 28,52. Ocorreu aumento significativo do peso úmido do fígado e do baço no grupo OB (medianas em g/Kg de peso corporal de 49,85 e 5,71 em relação ao grupo IS (30,0 e 3,04. Houve regress

  2. Defects in the Zeta Chain Expression (ζ in a Group of Patients with SLE, Scleroderma and Late-onset Arthritis, Colombia 2014

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    Heber Siachoque-Montañez

    2014-09-01

    Full Text Available Introduction: Systemic Lupus Erythematosus (SLE, Scleroderma and late-onset arthritis are autoimmune inflammatory diseases (EIA characterized by autoantibody production and presence of abnormal T cells which generate defective immune response. The abnormal expression of key signaling molecules in the defective function of T-lymphocytes plays a significant role in the pathogenesis of autoimmune disease. The T-cells exhibit numerous abnormalities TCRζ1 signaling complex, these aberrations result in altered expression of cytokines and some biochemical events involved in the expression of surface molecules. Defects in the complex may be associated TCRζ to steroids used in autoimmune disease patients due to their powerful anti-inflammatory activity and immunosuppressive properties. The synthetic corticosteroids such as examethasone inhibit the transcriptional activity of some factors such as NFKB and AP-1, which regulate the synthesis of certain cytokines and could be involved in the TCRζ synthesis. Material and Methods: A case-control study, with a 1:1 ratio of cases and controls (13:13. Cases were patients with active autoimmune disease (6 patients with SLE, 5 patients with scleroderma and 2 patients with lateonset arthritis, who have not started treatment with corticosteroids. Controls were patients with no autoimmune disease. The diagnosis was made by the criteria established by the American College of Rheumatology for patients with SLE, scleroderma and late-onset arthritis. A 10 mL sample was obtained by venipuncture whole blood. Total RNA was extracted and RT-PCR was performed using a set of primers flanking a region of 138 base pairs involving exons 2, 3 and 4 of the ζ chain. Results: The values of Z chain amplification showed significant differences in patients with autoimmune disease (0.8214 } 0.1787, med = 0.7368 compared with the control group (0.9225 } 0.1272, med = 0.9830 (p = 0.045, Mann-Withney non-parametric one tailed exact

  3. Assessment of esophageal involvement in systemic sclerosis and morphea (localized scleroderma) by clinical, endoscopic, manometric and pH metric features: a prospective comparative hospital based study.

    Science.gov (United States)

    Arif, Tasleem; Masood, Qazi; Singh, Jaswinder; Hassan, Iffat

    2015-02-15

    Systemic sclerosis (SSc) is a generalized disorder of unknown etiology affecting the connective tissue of the body. It affects the skin and various internal organs. Gastrointestinal tract involvement is seen in almost 90% of the patients. Esophagus is the most frequently affected part of the gastrointestinal tract. Esophageal motility disturbance classically manifests as a reduced lower esophageal sphincter pressure (LESP) and loss of distal esophageal body peristalsis. Consequently, SSc patients may be complicated by erosive esophagitis and eventually by Barrett's esophagus and esophageal adenocarcinoma. Morphea, also known as localized scleroderma, is characterized by predominant skin involvement, with occasional involvement of subjacent muscles and usually sparing the internal organs. The involvement of esophagus in morphea has been studied very scarcely. The proposed study will investigate the esophageal involvement in the two forms of scleroderma (systemic and localized), compare the same and address any need of upper gastrointestinal evaluation in morphea (localized scleroderma) patients. 56 and 31 newly and already diagnosed cases of SSc and morphea respectively were taken up for the study. All the patients were inquired about the dyspeptic symptoms (heartburn and/or acid regurgitation and/or dysphagia). Upper gastrointestinal endoscopy, esophageal manometry and 24-hour pH monitoring were done in 52, 47 and 41 patients of SSc; and 28, 25 and 20 patients of morphea respectively. Esophageal symptoms were present in 39 cases (69.6%) of SSc which were mild in 22 (39.3%), moderate in 14 (25%), severe in three (5.3%); while only four cases (7.1%) of morphea had esophageal symptoms all of which were mild in severity. Reflux esophagitis was seen in 17 cases (32.7%) of SSc and only two cases (7.14%) of morphea. Manometric abnormalities were seen in 32 cases (68.1%) of SSc and none in morphea. Ambulatory 24-hour esophageal pH monitoring documented abnormal reflux in

  4. Disease course and long-term outcome of juvenile localized scleroderma: Experience from a single pediatric rheumatology Centre and literature review.

    Science.gov (United States)

    Martini, Giorgia; Fadanelli, Gloria; Agazzi, Anna; Vittadello, Fabio; Meneghel, Alessandra; Zulian, Francesco

    2018-05-03

    Juvenile Localized Scleroderma (JLS) is a rare disorder that may cause severe aesthetic sequelae and functional disability. To date, data on natural history and long-term outcome are discordant and difficult to compare due to the heterogeneity of clinical subtypes, treatments and methods to evaluate activity and outcome in previous studies. A retrospective and cross-sectional study including 133 patients followed between January 1991 and December 2016 was conducted at our Pediatric Rheumatology Centre. Disease course was drawn by retrospective analysis of patients' clinical features, treatment, disease course and outcome at the last evaluation. Disease activity and severity of tissue damage were assessed by using parameters derived from the Localized Scleroderma Cutaneous Assessment Tool (LoSCAT) and thermography. Most patients achieved complete remission, as only 12.5%, all with the linear subtype, had still active disease after over 10 years of follow-up. At least one disease relapse occurred in 22.2% of patients and first flare was observed 20 months after first treatment discontinuation. Mild tissue damage was observed in more than half of patients, in 25.4% was moderate and in 23.0% severe; 19.8% presented a functional limitation. The entity of skin and subcutaneous fat loss established at the early stages of the disease as 27.8% of patients with shorter disease duration had severe damage and the rates remained constant in patients with longer follow-up. The delay in start of systemic treatment was associated with longer disease activity and higher relapse rate. Patients with linear scleroderma (LS), pansclerotic morphea (PM) and mixed subtype (MS) presented more severe aesthetic and functional damage but did not differ from other subtypes as for rate of complete remission. JLS in some patients can be a very aggressive disease with persistent activity after >10 years and/or several disease relapses. As tissue damage establishes early in disease course a

  5. European Dermatology Forum S1-guideline on the diagnosis and treatment of sclerosing diseases of the skin, Part 1: localized scleroderma, systemic sclerosis and overlap syndromes.

    Science.gov (United States)

    Knobler, R; Moinzadeh, P; Hunzelmann, N; Kreuter, A; Cozzio, A; Mouthon, L; Cutolo, M; Rongioletti, F; Denton, C P; Rudnicka, L; Frasin, L A; Smith, V; Gabrielli, A; Aberer, E; Bagot, M; Bali, G; Bouaziz, J; Braae Olesen, A; Foeldvari, I; Frances, C; Jalili, A; Just, U; Kähäri, V; Kárpáti, S; Kofoed, K; Krasowska, D; Olszewska, M; Orteu, C; Panelius, J; Parodi, A; Petit, A; Quaglino, P; Ranki, A; Sanchez Schmidt, J M; Seneschal, J; Skrok, A; Sticherling, M; Sunderkötter, C; Taieb, A; Tanew, A; Wolf, P; Worm, M; Wutte, N J; Krieg, T

    2017-09-01

    The term 'sclerosing diseases of the skin' comprises specific dermatological entities, which have fibrotic changes of the skin in common. These diseases mostly manifest in different clinical subtypes according to cutaneous and extracutaneous involvement and can sometimes be difficult to distinguish from each other. The present guideline focuses on characteristic clinical and histopathological features, diagnostic scores and the serum autoantibodies most useful for differential diagnosis. In addition, current strategies in the first- and advanced-line therapy of sclerosing skin diseases are addressed in detail. Part 1 of this guideline provides clinicians with an overview of the diagnosis and treatment of localized scleroderma (morphea), and systemic sclerosis including overlap syndromes of systemic sclerosis with diseases of the rheumatological spectrum. © 2017 European Academy of Dermatology and Venereology.

  6. Antibodies against human cytomegalovirus late protein UL94 in the pathogenesis of scleroderma-like skin lesions in chronic graft-versus-host disease.

    Science.gov (United States)

    Pastano, Rocco; Dell'Agnola, Chiara; Bason, Caterina; Gigli, Federica; Rabascio, Cristina; Puccetti, Antonio; Tinazzi, Elisa; Cetto, Gianluigi; Peccatori, Fedro; Martinelli, Giovanni; Lunardi, Claudio

    2012-09-01

    Human cytomegalovirus (hCMV) infection and its reactivation correlate both with the increased risk and with the worsening of graft-versus-host disease (GVHD). Because scleroderma-like skin lesions can occur in chronic GVHD (cGVHD) in allogeneic stem-cell transplant (HCT) patients and hCMV is relevant in the pathogenesis of systemic sclerosis (SSc), we evaluated the possible pathogenetic link between hCMV and skin cGVHD. Plasma from 18 HCT patients was tested for anti-UL94 and/or anti-NAG-2 antibodies, identified in SSc patients, by direct ELISA assays. Both donors and recipients were anti-hCMV IgG positive, without autoimmune diseases. Patients' purified anti-UL94 and anti-NAG-2 IgG binding to human umbilical endothelial cells (HUVECs) and fibroblasts was performed by FACS analysis and ELISA test. HUVECs apoptosis and fibroblasts proliferation induced by patients' anti-NAG-2 antibodies were measured by DNA fragmentation and cell viability, respectively. About 11/18 patients developed cGVHD and all of them showed skin involvement, ranging from diffuse SSc-like lesions to limited erythema. Eight of eleven cGVHD patients were positive for anti-UL94 and/or anti-NAG-2 antibodies. Remarkably, 4/5 patients who developed diffuse or limited SSc-like lesions had antibodies directed against both UL94 and NAG-2; their anti-NAG-2 IgG-bound HUVECs and fibroblasts induce both endothelial cell apoptosis and fibroblasts proliferation, similar to that induced by purified anti-UL94 and anti-NAG-2 antibodies obtained from SSc patients. In conclusion, our data suggest a pathogenetic link between hCMV infection and scleroderma-like skin cGVHD in HCT patients through a mechanism of molecular mimicry between UL94 viral protein and NAG-2 molecule, as observed in patients with SSc.

  7. 2013 American College of Rheumatology/European League against rheumatism classification criteria for systemic sclerosis outperform the 1980 criteria: data from the Canadian Scleroderma Research Group.

    Science.gov (United States)

    Alhajeri, Hebah; Hudson, Marie; Fritzler, Marvin; Pope, Janet; Tatibouet, Solène; Markland, Janet; Robinson, David; Jones, Niall; Khalidi, Nader; Docherty, Peter; Kaminska, Elzbieta; Masetto, Ariel; Sutton, Evelyn; Mathieu, Jean-Pierre; Ligier, Sophie; Grodzicky, Tamara; LeClercq, Sharon; Thorne, Carter; Gyger, Geneviève; Smith, Douglas; Fortin, Paul R; Larché, Maggie; Baron, Murray

    2015-04-01

    The goal of this study was to determine the sensitivity of the new 2013 classification criteria for systemic sclerosis (SSc; scleroderma) in an independent cohort of SSc subjects and to assess the contribution of individual items of the criteria to the overall sensitivity. SSc subjects from the Canadian Scleroderma Research Group cohort were assessed. Sensitivity was determined in several subgroups of patients. In patients without the criterion of skin thickening proximal to the metacarpophalangeal (MCP) joints, we recalculated sensitivity after removing the individual criterion. A total of 724 SSc patients were included. Most were women (86%), mean age was 55.8 years, mean disease duration was 10.9 years, and 59% had limited cutaneous SSc (lcSSc). Overall, the sensitivity of the 2013 criteria was 98.3% compared to 88.3% for the 1980 criteria. This pattern was consistent among those with lcSSc (98.8% versus 85.6%), anticentromere antibodies (98.9% versus 79.8%), disease duration ≤3 years (98.7% versus 84.7%), and no skin involvement proximal to the MCP joints (97% versus 60%). In the latter subgroup, removing Raynaud's phenomenon and sclerodactyly from the criteria reduced the sensitivity to 77% and 79%, respectively. Removing both sclerodactyly and puffy fingers reduced the sensitivity to 62%. The 2013 SSc classification criteria classify more SSc patients than the 1980 criteria. The improvement in sensitivity is most striking in those with lcSSc, especially those without skin involvement proximal to the MCP joints. The addition of Raynaud's phenomenon and puffy fingers to the 2013 criteria accounts for important gains in sensitivity. Copyright © 2015 by the American College of Rheumatology.

  8. Prevalência de doença mineral óssea em adolescentes com fibrose cística Prevalence of bone mineral disease among adolescents with cystic fibrosis

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    Reinaldo José do Amaral Caldeira

    2008-02-01

    Full Text Available OBJETIVO: Avaliar a prevalência de doença mineral óssea em adolescentes com fibrose cística e associar os achados com as variáveis estudadas. MÉTODOS: Foram selecionados 37 adolescentes, dos quais foram avaliados: estado nutricional pelos índices de altura/idade e massa corporal/idade; densidade mineral óssea da coluna lombar e corpo inteiro por densitometria com emissão de raio X de dupla energia; ingestão dietética diária pelo registro alimentar de 3 dias; e prova de função pulmonar pelo volume expiratório forçado no primeiro segundo. RESULTADOS: A média de idade foi de 13,2 (±2,8 anos. O estado nutricional adequado foi de 70,3 e 75,7% pelos índices de altura/idade e de massa corporal/idade, respectivamente; 54,1% dos pacientes apresentaram redução da densidade mineral óssea para coluna lombar e 32,5% para corpo inteiro. Houve correlação positiva entre densidade mineral óssea e índice de massa corporal (p = 0,04. A doença pulmonar e a insuficiência pancreática apresentaram correlação com a alteração da densidade mineral óssea. O inquérito alimentar revelou percentuais de adequação para o cálcio, fósforo e calorias, de acordo com a recomendação nutricional preconizada pelo Consenso Europeu de Fibrose Cística. Essas variáveis não se mostraram estatisticamente significantes na análise multivariada. CONCLUSÃO: A prevalência de doença mineral óssea é alta na adolescência. O estado nutricional adequado, a reposição de enzimas pancreáticas e o controle da doença pulmonar podem ter efeito protetor para a massa óssea.OBJECTIVE: To evaluate the prevalence of bone mineral disease among adolescents with cystic fibrosis and to relate the findings with the variables studied. METHODS: The study enrolled 37 adolescents who were assessed for: nutritional status according to height/age and body mass/age ratios; bone mineral density of the lumbar spine and entire body by densitometry with dual emission X

  9. Fibrose pulmonar secundária à amiodarona – A propósito de um caso clínico

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    Marta N. Silva

    2006-11-01

    Full Text Available Resumo: A amiodarona é um eficaz fármaco anti-arrítmico usado para tratar arritmias ventriculares e supra-ventriculares, mas não isento de reacções adversas. A toxicidade pulmonar é uma delas, relativamente rara (5 a 10% dos casos, e pode ser fatal. Há vários factores que aumentam a susceptibilidadade para esta toxicidade, tais como a idade avançada e a doença pulmonar preexistente.Apresentamos um caso clínico de toxicidade pulmonar induzida pela amiodarona (fibrose pulmonar num doente do sexo masculino, de 81 anos. Estava medicado com este fármaco, desde há 5 anos, com uma dose diária de 200 mg.Após a suspensão do fármaco e tratamento com corticosteróides sistémicos, houve melhoria clínica, funcional e radiológica.Este caso clínico realça a necessidade de uma monitorização e diagnóstico precoce dos efeitos adversos do tratamento com a amiodarona e a dificuldade no seu diagnóstico, devido à inespecificidade dos sintomas, das manifestações clínicas e dos resultados dos exames complementares de diagnóstico.Rev Port Pneumol 2006; XII (6: 725-730 Abstract: Amiodarone is an antiarrhytmic drug and it is used to treat supraventricular or ventricular rhythm disturbances. Nevertheless it is not free of side effects. Amiodarone-induced pulmonary toxicity is one of them and is relatively rare (5 to 10% of cases and can be fatal. There are several cumulative factors that may enhance susceptibility to pulmonary toxicity, such as advanced age and pre-existing pulmonary dysfunction.We present a case study of amiodarone-induced toxicity (pulmonary fibrosis in an 81-year-old man. The patient had been treated with amiodarone for five years in daily dose 200 mg/day.After withdrawing the drug and systemic corticoste-roid therapy, clinical, functional and radiological improvement was observed.This case confirms the needs of a vigilant monitoring and early diagnosis of

  10. Fibrose maciça progressiva em trabalhadores expostos à sílica: achados na tomografia computadorizada de alta resolução Progressive massive fibrosis in silica-exposed workers: high-resolution computed tomography findings

    Directory of Open Access Journals (Sweden)

    Ângela Santos Ferreira

    2006-12-01

    Full Text Available OBJETIVO: Avaliar as características radiológicas das massas conglomeradas pela tomografia computadorizada de alta resolução de tórax. MÉTODOS: Foram selecionados 75 pacientes silicóticos, a maioria jateadores de areia, portadores de fibrose maciça progressiva, atendidos no Hospital Universitário Antônio Pedro entre 1986 e 2004. Os pacientes foram submetidos a avaliação clínica, radiografia simples de tórax e tomografia computadorizada de alta resolução. RESULTADOS: Mais da metade dos pacientes com silicose complicada mostrou na radiografia de tórax grandes opacidades dos tipos B e C, denotando a gravidade da doença nesses pacientes. Dos 75 casos, apenas um apresentou massa unilateral simulando câncer de pulmão. Quarenta e quatro pacientes realizaram tomografia computadorizada de alta resolução do tórax. As massas predominaram nos terços superiores e posteriores (88,6%. Broncograma aéreo e calcificações no interior das massas foram observados em 70,4% e 63,8% dos casos, respectivamente. História de tuberculose foi relatada em 52% dos pacientes estudados. CONCLUSÃO: Na grande maioria dos casos as massas eram bilaterais, predominando nas regiões póstero-superiores dos pulmões, com broncogramas aéreos e calcificações de permeio. Associação com calcificações linfonodais foi um achado freqüente. A exposição a elevadas concentrações de poeira e a tuberculose foram consideradas fatores de risco para o desenvolvimento da fibrose maciça progressiva.OBJECTIVE: To evaluate the radiological characteristics of conglomerate masses using high-resolution computed tomography of the chest. METHODS: From among the patients treated between 1986 and 2004 at the Antonio Pedro University Hospital, 75 patients with silicosis and massive fibrosis, most working in the field of sandblasting, were selected for study. These patients were submitted to a clinical evaluation, chest X-ray and high-resolution computed tomography of

  11. Kwashiorkor e distúrbio de coagulação: apresentação atípica de fibrose cística Kwashiorkor and coagulation disturbance: atypical presentation of cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Michelle de Oliveira T. Sundell

    2012-01-01

    Full Text Available OBJETIVO: Enfatizar a apresentação clínica precoce da fibrose cística (FC em lactente com Kwashiorkor e distúrbio de coagulação, decorrente de hipovitaminose K. DESCRIÇÃO DO CASO: Paciente com três meses e meio, sexo feminino, nascida a termo, peso de 2655g, estatura de 46cm, foi encaminhada para investigação de lesões perineais associadas à monilíase de difícil controle, refratária a diversos antifúngicos e corticoides. Quadro geral caracterizado por baixo ganho ponderal, edema e diarreia. Admissão hospitalar para investigação com hipótese diagnóstica de Kwashiorkor de origem primária ou secundária. Paciente mantida em aleitamento materno exclusivo, sendo observadas perda ponderal e persistência da diarreia. Na internação, foi iniciado tratamento de infecção do trato urinário. A paciente evoluiu com hemorragia digestiva alta e sangramento pela flebotomia em safena direita, sendo identificada coagulopatia responsiva à vitamina K e plasma fresco congelado. Na evolução, foi confirmada esteatorreia e hipoalbuminemia; as sorologias para sífilis, toxoplasmose, mononucleose, citomegalovírus, rubéola, HIV e hepatite B, apresentaram resultado negativo e a pesquisa da mutação ∆F508 heterozigoto para FC foi positiva. A paciente apresentou piora do estado geral com sinais de sepse, evoluindo para óbito. O laudo necroscópico evidenciou elementos característicos de choque séptico com infecção pulmonar, sinais acentuados de desnutrição e fibrose cística do pâncreas. COMENTÁRIOS: A FC pode manifestar-se com quadro de Kwashiorkor e distúrbio de coagulação por deficiência de vitamina K. Os profissionais de saúde devem estar atentos à possibilidade de FC no diagnóstico diferencial dessa situação.OBJECTIVE: To address the clinical presentation of cystic fibrosis (CF in an infant presenting Kwashiorkor along with coagulation disturbance due to vitamin K deficiency. CASE DESCRIPTION: A female baby aged

  12. Nebulizadores: fonte de contaminação bacteriana em pacientes com fibrose cística? Nebulizers in cystic fibrosis: a source of bacterial contamination in cystic fibrosis patients?

    Directory of Open Access Journals (Sweden)

    Lorena Xavier Costa Brzezinski

    2011-06-01

    Full Text Available OBJETIVO: Determinar se os nebulizadores de pacientes com fibrose cística são fonte de contaminação microbiana e verificar se a técnica e a frequência de desinfecção dos nebulizadores é apropriada. MÉTODOS: Estudo de corte transversal observacional, sem grupo controle. Foram coletadas amostras de 28 pacientes com fibrose cística, no domicílio do paciente, sem aviso prévio sobre o motivo da visita. Foram colhidas três amostras por paciente: do reservatório do nebulizador, da máscara/bocal e do próprio paciente (swab da orofaringe/escarro. As amostras foram acondicionadas adequadamente e levadas para análise. Os pacientes, seus pais ou responsáveis preencheram um questionário sobre métodos de limpeza e desinfecção dos nebulizadores. RESULTADOS: Foram obtidas 84 amostras dos 28 pacientes. Destes, 15 (53,5% eram do gênero masculino. A mediana de idade foi de 11 anos (variação: 1-27 anos. Dos 28 pacientes, 15 apresentaram culturas de escarro/orofaringe positivas. As bactérias encontradas com maior frequencia foram Streptococcus aureus (8/15 e Pseudomonas aeruginosa (4/15. A cultura obtida dos nebulizadores identificou diversos patógenos, sem nenhum predominante. Não houve associações entre os resultados das culturas obtidas dos nebulizadores e aquelas dos pacientes em 27 casos (96,7%. A limpeza e a desinfecção não eram realizadas de forma adequada em 22 casos (78,6%. CONCLUSÕES: Nesta amostra de pacientes, apesar das técnicas de desinfecção inadequadas, os nebulizadores não foram uma fonte de contaminação microbianaOBJECTIVE: To determine whether nebulizers are a source of microbial contamination in patients with cystic fibrosis, as well as whether the technique and frequency of disinfection of these devices is appropriate. METHODS: This was a cross-sectional, uncontrolled observational study. Samples were collected from 28 patients with cystic fibrosis. Samples were collected at the homes of the patients, who

  13. The cannabinoid quinol VCE-004.8 alleviates bleomycin-induced scleroderma and exerts potent antifibrotic effects through peroxisome proliferator-activated receptor-γ and CB2 pathways.

    Science.gov (United States)

    del Río, Carmen; Navarrete, Carmen; Collado, Juan A; Bellido, M Luz; Gómez-Cañas, María; Pazos, M Ruth; Fernández-Ruiz, Javier; Pollastro, Federica; Appendino, Giovanni; Calzado, Marco A; Cantarero, Irene; Muñoz, Eduardo

    2016-02-18

    Scleroderma is a group of rare diseases associated with early and transient inflammation and vascular injury, followed by fibrosis affecting the skin and multiple internal organs. Fibroblast activation is the hallmark of scleroderma, and disrupting the intracellular TGFβ signaling may provide a novel approach to controlling fibrosis. Because of its potential role in modulating inflammatory and fibrotic responses, both PPARγ and CB2 receptors represent attractive targets for the development of cannabinoid-based therapies. We have developed a non-thiophilic and chemically stable derivative of the CBD quinol (VCE-004.8) that behaves as a dual agonist of PPARγ and CB2 receptors, VCE-004.8 inhibited TGFβ-induced Col1A2 gene transcription and collagen synthesis. Moreover, VCE-004.8 inhibited TGFβ-mediated myofibroblast differentiation and impaired wound-healing activity. The anti-fibrotic efficacy in vivo was investigated in a murine model of dermal fibrosis induced by bleomycin. VCE-004.8 reduced dermal thickness, blood vessels collagen accumulation and prevented mast cell degranulation and macrophage infiltration in the skin. These effects were impaired by the PPARγ antagonist T0070907 and the CB2 antagonist AM630. In addition, VCE-004.8 downregulated the expression of several key genes associated with fibrosis, qualifying this semi-synthetic cannabinoid as a novel compound for the management of scleroderma and, potentially, other fibrotic diseases.

  14. Estudo de mutações do gene CFTR e da concentração sérica da lectina ligante de manose (MBL) em crianças com fibrose cística identificadas pela triagem neonatal

    OpenAIRE

    Ribas, Danieli Isabel Romanovitch

    2014-01-01

    Orientador: Prof. Dr. Nelson Augusto Rosário Filho Co-orientadora: Profª. Drª. Lilian Pereira Ferrari Tese (doutorado) - Universidade Federal do Paraná, Setor de Ciências da Saúde, Programa de Pós-Graduação em Medicina Interna. Defesa : Curitiba, 19/12/2014 Inclui referências Resumo: A fibrose cística é uma doença hereditária autossômica recessiva, causada por mutações no gene CFTR (Cystic Fibrosis Transmembrane Conductance Regulator). Apresenta grande variação clínica, mesm...

  15. Eating Well with Scleroderma

    Science.gov (United States)

    ... Add antioxidant rich, anti-inflam- matory herbs and spices, such as basil, rosemary, oregano, cin- namon, ginger, ... or Culturelle ® ) and/or eat yogurt with active cultures regularly. Remember to increase your fluid intake. • Inflammation: ...

  16. Hemodynamic effects of a prostacyclin analog (Prostavasin) in systemic sclero-derma patients; Effetti di un analogo della prostaciclina (Prostavasin) sui parametri Doppler nei pazienti con sclerodermia

    Energy Technology Data Exchange (ETDEWEB)

    Salera, Diego; Argalia, Giulio; Giuseppetti, Gian Marco [Univ. Politecnica delle Marche, Ancona (Italy). Istituto di radiologia

    2005-07-15

    Purpose. We examined the effects of a prostacyclin analogue (Prostavasin) on the circulation of upper extremity, cerebral, ocular and visceral districts such as portal vein, hepatic artery, superior mesenteric artery, and inter lobar renal artery in scleroderma patients. Materials and methods. peripheral vasculature was evaluated by the brachial artery flow-mediated dilatation by the high resolution ultrasound cross-sectional measurement, splenic arterial pulsatility index (PI) resistance index (RI) of the middle cerebral artery, the central retinal artery, the visceral arteries and the portal vein flow were assessed by colour Doppler sonography in an experimental group (EG) of 50 scleroderma patients, not affected by cerebrovascular, ocular, hepatic diseases or nephropathy, before and after 3 days of Prostavasin infusion and before and after 3 days in a control group (CG) of 10 patients not receiving any treatment. Results. EG patients showed significant increasement in the brachial artery flow-mediated dilatation, in the portal vein velocity and in the splenic arterial PI (preProstavasin vs post-Prostavasin treatment, p < 0.001) whereas CG patients had no significant changes. Values of the middle cerebral artery, the central retinal artery, the inter lobar renal artery, the superior mesenteric artery and the hepatic artery RI were reduced after treatment in the majority of EG patients although the difference did not achieve a satisfactory statistical significance. Conclusions. our results indicate that Prostavasin has a powerful effect in improving the peripheral circulation of scleroderma patients. Prostavasin significantly increases the portal vein flow but also the splenic arterial PI not supporting the hypothesis of its direct and specific action on relaxation of the hepatic micro circle. [Italian] Scopo. Sono stati studiati gli effetti di un analogo della prostaciclina (Prostavasin) sul circolo periferico degli arti superiori e sulla vascolarizzazione

  17. Desfecho da gravidez em portadoras de esclerodermia difusa e limitada Pregnancy outcome in patients with diffuse and limited scleroderma

    Directory of Open Access Journals (Sweden)

    Marina Celli Francisco

    2005-10-01

    with scleroderma (SSc when compared with women without the disease, between the two clinical variants of the disease and when the expression of SSc occurred before or after the gestation. METHODS: twenty-six patients were analyzed regarding the number of pregnancies, miscarriages, sex, and birth weight of the children, studying the clinical variant of the disease and the temporal relationship between diagnosis and gestation. The patients had not used either medications that could interfere in gestation or had any other disease that could do it. For control, twenty-six healthy women, without diseases that might alter the gestation, of the same ages and socioeconomic status were studied. For the statistical analysis study, tables of frequency, tables of contingency, and Fisher, chi2 and Mann-Whitney tests were used. Statistical significance was considered when p<0.05. RESULTS: among the patients with SSc, there were 96 gestations with 13.5% (n=13 of miscarriages. In the control group, there were 94 gestations with 9.6% (n=9 of miscarriages. There were no differences in the number of newborns with low weight between the two groups (cases, n=8 and controls, n=6, with p=0.54, nor in the number of miscarriages (p=0.46. However, the number of newborn babies with low weight was significantly higher among the cases with the diffuse disease (diffuse form, n=4 and limited, n=4, with p=0.04 and among patients that became pregnant after the diagnosis of SSc (37.5% in women known to be sick and 6.7% in women who became pregnant before getting ill, with p=0.03. The number of male newborns was higher in the women with SSc (p=0.002. CONCLUSIONS: the women with SSc showed a higher number of low-weight newborns in the group with diffuse disease and when pregnancy occurred after the clinical diagnosis of the disease.

  18. A novel DNMT1 mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiency.

    Science.gov (United States)

    Fox, Robin; Ealing, John; Murphy, Helen; Gow, David P; Gosal, David

    2016-09-01

    DNA methyltransferase 1 (DNMT1) is an enzyme which has a role in methylation of DNA, gene regulation, and chromatin stability. Missense mutations in the DNMT1 gene have been previously associated with two neurological syndromes: hereditary sensory and autonomic neuropathy type 1 with dementia and deafness (HSAN1E) and autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN). We report a case showing overlap of both of these syndromes plus associated clinical features of common variable immune deficiency, scleroderma, and endocrinopathy that could also be mutation associated. Our patient was found to be heterozygous for a previously unreported frameshift mutation, c.1635_1637delCAA p.(Asn545del) in the DNMT1 gene exon 20. This case displays both the first frameshift mutation described in the literature which is associated with a phenotype with a high degree of overlap between HSAN1E and ADCA-DN and early age of onset (c. 8 years). Our case is also of interest as the patient displays a number of new non-neurological features, which could also be DNMT1 mutation related. © 2016 Peripheral Nerve Society.

  19. Polysaccharides from the fungus Scleroderma nitidum with anti-inflammatory potential modulate cytokine levels and the expression of Nuclear Factor kB

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    Marília S. Nascimento

    2012-02-01

    Full Text Available Several pharmacological properties are attributed to polysaccharides and glucans derived from fungi such as tumor, anti-inflammatory, and immunomodulatory activity. In this work, the anti-inflammatory potential of polysaccharides from the fungus Scleroderma nitidum and their possible action mechanism were studied. The effect of these polymers on the inflammatory process was tested using the carrageenan and histamine-induced paw edema model and the sodium thioglycolate and zymosan-induced model. The polysaccharides from S. nitidum were effective in reducing edema (73% at 50 mg/kg and cell infiltrate (37% at 10 mg/kg in both inflammation models tested. Nitric oxide, a mediator in the inflammatory process, showed a reduction of around 26% at 10 mg/kg of body weight. Analysis of pro-and anti-inflammatory cytokines showed that in the groups treated with polysaccharides from S. nitidum there was an increase in cytokines such as IL-1ra, IL-10, and MIP-1β concomitant with the decrease in INF-γ (75% and IL-2 (22%. We observed the influence of polysaccharides on the modulation of the expression of nuclear factor κB. This compound reduced the expression of NF-κB by up to 64%. The results obtained suggest that NF-κB modulation an mechanisms that explain the anti-inflammatory effect of polysaccharides from the fungus S. nitidum.

  20. Litter-forager termite mounds enhance the ectomycorrhizal symbiosis between Acacia holosericea A. Cunn. Ex G. Don and Scleroderma dictyosporum isolates.

    Science.gov (United States)

    Duponnois, Robin; Assikbetse, Komi; Ramanankierana, Heriniaina; Kisa, Marija; Thioulouse, Jean; Lepage, Michel

    2006-05-01

    The hypothesis of the present study was that the termite mounds of Macrotermes subhyalinus (MS) (a litter-forager termite) were inhabited by a specific microflora that could enhance with the ectomycorrhizal fungal development. We tested the effect of this feeding group mound material on (i) the ectomycorrhization symbiosis between Acacia holosericea (an Australian Acacia introduced in the sahelian areas) and two ectomycorrhizal fungal isolates of Scleroderma dictyosporum (IR408 and IR412) in greenhouse conditions, (ii) the functional diversity of soil microflora and (iii) the diversity of fluorescent pseudomonads. The results showed that the termite mound amendment significantly increased the ectomycorrhizal expansion. MS mound amendment and ectomycorrhizal inoculation induced strong modifications of the soil functional microbial diversity by promoting the multiplication of carboxylic acid catabolizing microorganisms. The phylogenetic analysis showed that fluorescent pseudomonads mostly belong to the Pseudomonads monteillii species. One of these, P. monteillii isolate KR9, increased the ectomycorrhizal development between S. dictyosporum IR412 and A. holosericea. The occurrence of MS termite mounds could be involved in the expansion of ectomycorrhizal symbiosis and could be implicated in nutrient flow and local diversity.

  1. Pulsed versus continuous wave low-level light therapy on osteoarticular signs and symptoms in limited scleroderma (CREST syndrome): a case report

    Science.gov (United States)

    Barolet, Daniel

    2014-11-01

    Limited cutaneous systemic sclerosis (lcSSc) was formerly known as CREST syndrome in reference to the associated clinical features: calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasias. The transforming growth factor beta has been identified as a major player in the pathogenic process, where low-level light therapy (LLLT) has been shown to modulate this cytokine superfamily. This case study was conducted to assess the efficacy of 940 nm using millisecond pulsing and continuous wave (CW) modes on osteoarticular signs and symptoms associated with lcSSc. The patient was treated two to three times a week for 13 weeks using a sequential pulsing mode on one elbow and a CW mode on the other. Efficacy assessments included inflammation, symptoms, pain, health scales, patient satisfaction, clinical global impression, and adverse effects monitoring. Considerable functional and morphologic improvements were observed after LLLT, with the best results seen with the pulsing mode. No adverse effects were noted. Pulsed LLLT represents a treatment alternative for osteoarticular signs and symptoms in limited scleroderma (CREST syndrome).

  2. Neurological abnormalities in localized scleroderma of the face and head: a case series study for evaluation of imaging findings and clinical course.

    Science.gov (United States)

    Lis-Święty, Anna; Brzezińska-Wcisło, Ligia; Arasiewicz, Hubert

    2017-09-01

    Localized scleroderma (LoS) of the face and head is often associated with neurological manifestations and/or imaging abnormalities in the central nervous system (CNS). We present an analysis of 20 cases of LoS affecting the face and head. The CNS symptoms and/or abnormalities in high-resolution computed tomography (HRCT) and/or magnetic resonance imaging (MRI) were observed in 12 patients (60%). In addition to the mild and unspecific disorders (e.g. headaches), serious neurological complications probably in the course of vasculitis were revealed: epilepsy (in two patients), epilepsy and pyramidal sings (in one patient). Neurological disorders and LoS occurred at the same time (in three patients) or at the course of the disease (nine patients) and no later than 29 years since the onset of the disease. No link between neurological disorders and the LoS clinical morphology, immunological and other laboratory parameters has been established. CNS involvement is not correlated with the clinical course of the facial and head LoS and may occur years after the disease initial symptomatology. Imaging follow-up is not required if there is not any emerging neurological symptom. In some cases, however, both HRCT and MRI are useful for monitoring disease evolution and addressing therapeutic choices.

  3. Chitinase 1 Is a Biomarker for and Therapeutic Target in Scleroderma-Associated Interstitial Lung Disease That Augments TGF-β1 Signaling

    Science.gov (United States)

    Lee, Chun Geun; Herzog, Erica L.; Ahangari, Farida; Zhou, Yang; Gulati, Mridu; Lee, Chang-Min; Peng, Xueyan; Feghali-Bostwick, Carol; Jimenez, Sergio A.; Varga, John; Elias, Jack A.

    2014-01-01

    Interstitial lung disease (ILD) with pulmonary fibrosis is an important manifestation in systemic sclerosis (SSc, scleroderma) where it portends a poor prognosis. However, biomarkers that predict the development and or severity of SSc-ILD have not been validated, and the pathogenetic mechanisms that engender this pulmonary response are poorly understood. In this study, we demonstrate in two different patient cohorts that the levels of chitotriosidase (Chit1) bioactivity and protein are significantly increased in the circulation and lungs of SSc patients compared with demographically matched controls. We also demonstrate that, compared with patients without lung involvement, patients with ILD show high levels of circulating Chit1 activity that correlate with disease severity. Murine modeling shows that in comparison with wild-type mice, bleomycin-induced pulmonary fibrosis was significantly reduced in Chit1−/− mice and significantly enhanced in lungs from Chit1 overexpressing transgenic animals. In vitro studies also demonstrated that Chit1 interacts with TGF-β1 to augment fibroblast TGF-β receptors 1 and 2 expression and TGF-β–induced Smad and MAPK/ERK activation. These studies indicate that Chit1 is potential biomarker for ILD in SSc and a therapeutic target in SSc-associated lung fibrosis and demonstrate that Chit1 augments TGF-β1 effects by increasing receptor expression and canonical and noncanonical TGF-β1 signaling. PMID:22826322

  4. Evaluation of the Satisfaction with Appearance Scale and Its Short Form in Systemic Sclerosis: Analysis from the UCLA Scleroderma Quality of Life Study.

    Science.gov (United States)

    Mills, Sarah D; Fox, Rina S; Merz, Erin L; Clements, Philip J; Kafaja, Suzanne; Malcarne, Vanessa L; Furst, Daniel E; Khanna, Dinesh

    2015-09-01

    Changes in appearance are common in patients with systemic sclerosis (SSc) and can significantly affect well-being. The Satisfaction with Appearance Scale (SWAP) measures body image dissatisfaction in persons with visible disfigurement; the Brief-Satisfaction with Appearance Scale (Brief-SWAP) is its short form. The present study evaluated the reliability and validity of SWAP and Brief-SWAP scores in SSc. A sample of 207 patients with SSc participating in the University of California, Los Angeles Scleroderma Quality of Life Study completed the SWAP. Brief-SWAP scores were derived from the SWAP. The structural validity of both measures was investigated using confirmatory factor analysis. Internal consistency reliability of total and subscale scores was assessed with Cronbach's alpha coefficients. Convergent and divergent validity was evaluated using the Center for Epidemiological Studies Depression Scale, the Health Assessment Questionnaire-Disability Index, and the Medical Outcomes Study Short Form-36 questionnaire. SWAP and Brief-SWAP total scores were highly correlated (r = 0.97). The 4-factor structure of the SWAP fit well descriptively; the 2-factor structure of the Brief-SWAP fit well descriptively and statistically. Internal consistencies for total and subscale scores were good, and results supported convergent and divergent validity. Both versions are suitable for use in patients with SSc. The Brief-SWAP is most efficient; the full SWAP yields additional subscales that may be informative in understanding body image issues in patients with SSc.

  5. A rare association of localized scleroderma type morphea, vitiligo, autoimmune hypothyroidism, pneumonitis, autoimmune thrombocytopenic purpura and central nervous system vasculitis. Case report.

    Science.gov (United States)

    Bonilla-Abadía, Fabio; Muñoz-Buitrón, Evelyn; Ochoa, Carlos D; Carrascal, Edwin; Cañas, Carlos A

    2012-12-20

    The localized scleroderma (LS) known as morphea, presents a variety of clinical manifestations that can include systemic involvement. Current classification schemes divide morphea into categories based solely on cutaneous morphology, without reference to systemic disease or autoimmune phenomena. This classification is likely incomplete. Autoimmune phenomena such as vitiligo and Hashimoto thyroiditis associated with LS have been reported in some cases suggesting an autoimmune basis. To our knowledge this is the first case of a morphea forming part of a multiple autoimmune syndrome (MAS) and presenting simultaneously with autoimmune thrombocytopenic purpura and central nervous system vasculitis. We report an uncommon case of a white 53 year old female patient with LS as part of a multiple autoimmune syndrome associated with pneumonitis, autoimmune thrombocytopenic purpura and central nervous system vasculitis presenting a favorable response with thrombopoietin receptor agonists, pulses of methylprednisolone and cyclophosphamide. Is likely that LS have an autoimmune origin and in this case becomes part of MAS, which consist on the presence of three or more well-defined autoimmune diseases in a single patient.

  6. A rare association of localized scleroderma type morphea, vitiligo, autoimmune hypothyroidism, pneumonitis, autoimmune thrombocytopenic purpura and central nervous system vasculitis. Case report

    Directory of Open Access Journals (Sweden)

    Bonilla-Abadía Fabio

    2012-12-01

    Full Text Available Abstract Background The localized scleroderma (LS known as morphea, presents a variety of clinical manifestations that can include systemic involvement. Current classification schemes divide morphea into categories based solely on cutaneous morphology, without reference to systemic disease or autoimmune phenomena. This classification is likely incomplete. Autoimmune phenomena such as vitiligo and Hashimoto thyroiditis associated with LS have been reported in some cases suggesting an autoimmune basis. To our knowledge this is the first case of a morphea forming part of a multiple autoimmune syndrome (MAS and presenting simultaneously with autoimmune thrombocytopenic purpura and central nervous system vasculitis. Case presentation We report an uncommon case of a white 53 year old female patient with LS as part of a multiple autoimmune syndrome associated with pneumonitis, autoimmune thrombocytopenic purpura and central nervous system vasculitis presenting a favorable response with thrombopoietin receptor agonists, pulses of methylprednisolone and cyclophosphamide. Conclusion Is likely that LS have an autoimmune origin and in this case becomes part of MAS, which consist on the presence of three or more well-defined autoimmune diseases in a single patient.

  7. Perfil epidemiológico das infecções bacterianas do aparelho respiratório em doentes com fibrose quística

    Directory of Open Access Journals (Sweden)

    Sofia Quintas

    2003-07-01

    Full Text Available RESUMO: Com o intuito de caracterizar a evolução do perfil epidemiológico das infecções bacterianas do aparelho respiratório dos doentes com Fibrose Quística (FQ, os autores realizaram um estudo retrospectivo da prevalência e incidência das mesmas em 78 doentes com FQ seguidos no Centro Especializado de FQ da Clínica Universitária de Pediatria do Hospital de Santa Maria, Lisboa durante um período de 5 anos (1995-1999.A Pseudomonas aeruginosa foi a bactéria mais frequentemente isolada nos três primeiros anos do estudo (60-73%, sendo ultrapassada nos dois anos seguintes pelo Staphylococcus aureus. No entanto, a Pseudomonas aeruginosa constituiu sempre o principal agente de colonização crónica (44-59%, com um pico de início da mesma entre os 0 e os 5 anos (34%. Verificou-se ao longo dos 5 anos um aumento significativo da prevalência de colonização intermitente e crónica por Staphylococcus aureus (48% para 83% e 32% para 54%. A prevalência de isolamentos de Staphylococcus aureus resistente à meticilina e de Burkholderia cepacia quase que duplicou neste período. As taxas de isolamento e de colonização crónica por Alcaligenes xylosoxidans aumentaram bruscamente a partir de 1997 (de 3% e 0% em 1996 para 7% e 5% em 1997 e 10% e 7% em 1999. A colonização crónica por Haemophilus influenzae manteve uma prevalência média de 22%, apesar dum aumento dos isolamentos (de 42% para 61%. Em 55% dos doentes observou-se colonização crónica por dois ou mais agentes.Em função destes resultados são discutidos os esquemas terapêuticos e as medidas de prevenção de contágios que têm sido preconizados nos doentes com FQ do nosso centro.REV PORT PNEUMOL 2003; IX (4: 337-352 ABSTRACT: With the aim of characterizing the evolution of the epidemiological profile of respiratory bacterial infections of patients having Cystic Fibrosis (CF, the authors

  8. Esclerodermia localizada na criança: aspectos clínicos, diagnósticos e terapêuticos Localized scleroderma in children: clinical, diagnostic and therapeutic aspects

    Directory of Open Access Journals (Sweden)

    Pedro C. Q. Zancanaro

    2009-04-01

    Full Text Available A esclerodermia localizada, ou morféia, acomete crianças em idade escolar e, em geral, é autolimitada, apesar de localmente desfiguradora. A literatura descreve inúmeros fatores etiopatogênicos, bem como modalidades de investigação e tratamento. Este artigo reúne os estudos mais recentes e discute sua aplicação clínica.Localized scleroderma or morphea affects school-aged children, is usually self-limited and a disfiguring condition. Several etiopathogenic factors, investigations and treatment options are described. This article reviews the recent literature and discusses its clinical applications.

  9. Biofilm ved kronisk rhinosinuitis og cystisk fibrose

    DEFF Research Database (Denmark)

    Fisker, Jacob; Buchwald, Christian von; Johansen, Helle Krogh

    2011-01-01

    Microbial biofilms are known to cause persistent foreign-body infections and have recently been acknowledged as involved in more than 65% of all human infections. Microbial biofilms have been detected in chronic rhinosinusitis, and chronic rhinosinusitis is mandatory in patients with cystic...

  10. Idiopatisk pulmonal fibrose er en overset sygdom

    DEFF Research Database (Denmark)

    Bendstrup, Elisabeth; Kronborg-White, Sissel; Prior, Thomas Skovhus

    2017-01-01

    Idiopathic pulmonary fibrosis is a chronic, progressive and fatal disease which primarily occurs in male patients over 60 years with a smoking history. Cryobiopsy is a new promising method for obtaining lung tissue for histologic analysis with fewer complications than surgical lung biopsy...

  11. Imaging pulmonary fibrosis; Imagerie des fibroses pulmonaires

    Energy Technology Data Exchange (ETDEWEB)

    Brauner, M.W.; Rety, F.; Naccache, J.M.; Girard, F.; Valeyre, D.F. [Hopital Avicenne, 93 - Bobigny (France). Service de radiologie et de pneumologie

    2001-02-01

    Localized fibrosis of the lung is usually scar tissue while diffuse pulmonary fibrosis is more often a sign of active disease. Chronic infiltrative lung disease may be classified into four categories: idiopathic pneumonitis, collagen diseases, granulomatosis (sarcoidosis), and caused by known diseases (pneumoconiosis, hypersensitivity pneumonitis, drug-induced lung disease, radiation). (authors)

  12. Morphometric study of the fibrosis and mast cell count in the circular colon musculature of chronic Chagas patients with and without megacolon Estudo morfométrico da fibrose e do número de mastócitos na muscular circular do cólon de chagásicos crônicos com e sem megacólon

    Directory of Open Access Journals (Sweden)

    Simone Wanderley Pinheiro

    2003-07-01

    Full Text Available A morphometric study of the circular colon musculature was performed, in which the mast cell count was determined and the connective fibrous tissue in this layer was measured. The objective was to gain better understanding of Chagas megacolon morphology and contribute towards the knowledge of fibrosis pathogenesis in Chagas megas. An evaluation was made of 15 distal sigmoid rings from Chagas patients with megacolon (MCC, 15 without megacolon (CSMC and 15 non-Chagas patients (NC. The rings were fixed in formol, embedded in paraffin, and 7mm thick sections were cut and stained using Azan-Heidenhain and Giemsa. The mast cell count and fibrosis were greater in the MCC group than in the CSMC and NC groups (p Com os objetivos de conhecer melhor a morfologia do megacólon chagásico e contribuir para o conhecimento da patogênese da fibrose dos megas, realizou-se estudo morfométrico na muscular circular do cólon, contando-se o número de mastócitos e medindo o conjuntivo fibroso nessa camada. Foram avaliados anéis do sigmóide distal de 15 chagásicos com megacólon (MCC, 15 sem megacólon (CSMC e 15 não chagásicos (NC. Os anéis foram fixados em formol, incluídos em parafina, cortados com 7mm de espessura e corados por Azan-Heidenhain e Giemsa. O número de mastócitos e a fibrose foram maiores no grupo com MCC em relação ao CSMC e NC (p < 0,05; teste de Kruskal-Wallis; não houve diferença significante entre os dois últimos grupos. Diante destes achados, é possível, que haja relação entre mastocitose e fibrose no megacólon chagásico, como já se demonstrou em outras doenças.

  13. Incidência e evolução da polipose nasal em crianças e adolescentes com fibrose cística Incidence and evolution of nasal polyps in children and adolescents with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Silke Anna Thereza Weber

    2008-02-01

    Full Text Available A polipose nasal é manifestação clínica de alerta para investigação de fibrose cística (FC. OBJETIVO: Avaliar incidência de pólipos nasais em crianças e adolescentes com FC, sua associação com idade, sexo, sintomas clínicos, achados laboratoriais e genótipo, e sua evolução com corticoterapia tópica. CASUÍSTICA E MÉTODOS: Foram avaliados sintomas clínicos, níveis de cloro no suor e mutações genéticas de 23 pacientes com FC. A polipose nasal foi investigada por exame endoscópico e quando presente, o paciente recebeu 6 meses de tratamento com corticosteróide tópico e foi realizada nova endoscopia depois. Para análise estatística utilizou-se média, desvio padrão e Teste de Fisher. RESULTADOS: 39,1% dos pacientes apresentaram polipose nasal (cinco bilateral, quatro unilateral, todos com mais de seis anos, 82,6%, pneumonias recorrentes, 87%, insuficiência pancreática e 74%, desnutrição. Não houve associação entre polipose e nível de cloro no suor, genótipo, fenótipo clínico e sintomas nasais. Houve melhora da polipose com tratamento clínico em sete pacientes, com regressão completa em seis. CONCLUSÃO: O estudo mostrou elevada incidência de polipose em crianças com FC, sendo encontrada em todos os espectros de gravidade clínica, mesmo na ausência de sintomas nasais. O tratamento com corticosteróide tópico mostrou-se eficaz. A interação de pneumopediatra e do otorrinolaringologista é fundamental para diagnóstico e seguimento.Nasal polyps are a clinical sign of alert for investigating Cystic Fibrosis (CF. AIMS: To study the incidence of nasal polyps in children and adolescents with cystic fibrosis, its possible association with age, gender, clinical manifestations, genotype and sweat chlorine level, and its evolution with topical steroid therapy. METHODS: Clinical symptoms, sweat chlorine level and genotype were studied in 23 cystic fibrosis patients. Nasal polyps were diagnosed by nasal endoscopy

  14. Prevalência da doença do refluxo gastroesofágico em pacientes com fibrose pulmonar idiopática Prevalence of gastroesophageal reflux disease in patients with idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Cristiane Dupont Bandeira

    2009-12-01

    Full Text Available OBJETIVO: Determinar a prevalência da doença do refluxo gastroesofágico (DRGE e sua apresentação clínica, além do perfil funcional do esôfago em pacientes com fibrose pulmonar idiopática (FPI. MÉTODOS: Foram avaliados prospectivamente 28 pacientes com FPI. Os pacientes foram submetidos à esofagomanometria estacionária, pHmetria de 24 h e testes de função pulmonar, assim como responderam a questionários sobre sintomas e qualidade de vida em DRGE. RESULTADOS: A prevalência de DRGE foi de 35,7%. Os pacientes foram divididos em dois grupos: grupo DRGE+ (pHmetria anormal; n = 10, e grupo DRGE- (pHmetria normal; n = 18. No grupo DRGE+, 77,7% dos pacientes apresentavam pelo menos um sintoma típico de DRGE. Nesse grupo de pacientes, 8 (80% apresentaram refluxo em posição supina, e 5 (50% apresentaram refluxo exclusivamente nessa posição. Nos grupos DRGE+ e DRGE-, respectivamente, 5 (50,0% e 7 (38,8% dos pacientes apresentaram hipotonia do esfíncter esofágico inferior, assim como 7 (70,0% e 10 (55,5% apresentaram hipomotilidade esofágica. Não houve diferenças significativas entre os grupos quanto a características demográficas, função pulmonar, apresentação clínica ou achados manométricos. CONCLUSÕES: A prevalência de DRGE nos pacientes comOBJECTIVE: To determine the prevalence of gastroesophageal reflux disease (GERD and to evaluate its clinical presentation, as well as the esophageal function profile in patients with idiopathic pulmonary fibrosis (IPF. METHODS: In this prospective study, 28 consecutive patients with IPF underwent stationary esophageal manometry, 24-h esophageal pH-metry and pulmonary function tests. All patients also completed a symptom and quality of life in GERD questionnaire. RESULTS: In the study sample, the prevalence of GERD was 35.7%. The patients were then divided into two groups: GERD+ (abnormal pH-metry; n = 10 and GERD- (normal pH-metry; n = 18. In the GERD+ group, 77.7% of the patients

  15. Padrões ventilatórios na espirometria em pacientes adolescentes e adultos com fibrose cística Respiratory patterns in spirometric tests of adolescents and adults with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Bruna Ziegler

    2009-09-01

    Full Text Available OBJETIVO: Avaliar os padrões dos distúrbios ventilatórios observados na espirometria em pacientes com fibrose cística (FC e suas relações com a gravidade funcional e com o comportamento dos fluxos máximos expiratórios a baixos volumes. MÉTODOS: Estudo transversal e retrospectivo, incluindo pacientes adolescentes e adultos com FC. Todos os pacientes foram submetidos à espirometria. Os pacientes foram classificados como tendo função ventilatória preservada, distúrbio ventilatório obstrutivo (DVO, DVO com CVF reduzida, sugestivo de distúrbio ventilatório restritivo (DVR ou distúrbio ventilatório combinado (DVC. Os fluxos máximos expiratórios a baixos volumes foram avaliados utilizando-se FEF25-75%, FEF75%e FEF75%/CVF. O grupo controle incluiu 65 indivíduos normais, também submetidos à espirometria. RESULTADOS: Foram incluídos 65 pacientes no grupo de estudo: 8 (12,3% com função pulmonar preservada, 18 (27,7% com DVO, 24 (36,9% com DVO com CVF reduzida, 5 (7,7% com padrão sugestivo de DVR e 10 (15,4% com DVC. O VEF1 foi significativamente menor nos grupos DVO com CVF reduzida e DVC, comparados com os outros grupos (p OBJECTIVE: To evaluate spirometric patterns of respiratory disorders and their relationship with functional severity and maximal expiratory flows at low lung volumes in patients with cystic fibrosis (CF. METHODS: A retrospective cross-sectional study including adolescents and adults with CF. All of the patients were submitted to spirometry. Patients were classified as having preserved respiratory function, obstructive lung disease (OLD, OLD with reduced FVC, presumptive restrictive lung disease (RLD or mixed obstructive and restrictive lung disease (MORLD. Maximal expiratory flows at low lung volumes were assessed using FEF25-75%, FEF75% and FEF75%/FVC. We included 65 normal subjects, also submitted to spirometry, as a control group. RESULTS: The study group included 65 patients: 8 (12.3% with preserved lung

  16. Percepção da gravidade da doença em pacientes adultos com fibrose cística Perception of disease severity in adult patients with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Paulo de Tarso Roth Dalcin

    2009-01-01

    Full Text Available OBJETIVO: Avaliar a percepção da gravidade da doença em pacientes com fibrose cística (FC, investigando sua relação com escore clínico, escore radiológico, testes de função pulmonar, adesão ao tratamento e percepção de autocuidado. MÉTODOS: Estudo transversal, prospectivo, envolvendo pacientes com FC atendidos em um programa para adultos com FC. A percepção da gravidade da doença, a adesão ao tratamento e o relato de autocuidado foram avaliados por questionários. Foram obtidos de todos os pacientes dados clínicos, escore clínico de Shwachman-Kulczycki, escore radiológico de Brasfield e espirometria. RESULTADOS: De 38 pacientes estudados, 3 (7,9% relataram percepção de sua saúde como muito abaixo da média; 5 (13,2%, como abaixo da média; 15 (39,5%, como na média; 10 (26.3%, como acima da média; e 5 (13,2%, como muito acima da média. A percepção da gravidade da doença correlacionou-se significativamente com o escore clínico (r = 0,43, p = 0,007, CVF (r = 0,34, p = 0,034, VEF1 (r = 0,38, p = 0,019 e com relato de autocuidado (r = 0,33, p = 0,044, mas não com o grau de adesão (r = -0,03, p = 0,842 e escore radiológico (r = 0,33, p = 0,51. CONCLUSÕES: A percepção da gravidade da doença se relacionou com medidas objetivas de gravidade da doença (escore clínico e testes de função pulmonar e com relato de autocuidado, mas não com a adesão ao tratamento.OBJECTIVE: To evaluate the perception of disease severity in patients with cystic fibrosis (CF, investigating its relationship with clinical score, radiographic score, respiratory function tests, adherence to treatment and perception of self-care practices. METHODS: Prospective, cross-sectional study involving CF patients treated in a program for adults with CF. The perception of disease severity, adherence to treatment and reported self-care practices were evaluated by means of questionnaires. Clinical data, Shwachman-Kulczycki clinical score, Brasfield

  17. 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.

  18. Validation of the Social Appearance Anxiety Scale in Patients with Systemic Sclerosis: A Scleroderma Patient-centered Intervention Network Cohort Study.

    Science.gov (United States)

    Mills, Sarah D; Kwakkenbos, Linda; Carrier, Marie-Eve; Gholizadeh, Shadi; Fox, Rina S; Jewett, Lisa R; Gottesman, Karen; Roesch, Scott C; Thombs, Brett D; Malcarne, Vanessa L

    2018-01-17

    Systemic sclerosis (SSc) is an autoimmune disease that can cause disfiguring changes in appearance. This study examined the structural validity, internal consistency reliability, convergent validity, and measurement equivalence of the Social Appearance Anxiety Scale (SAAS) across SSc disease subtypes. Patients enrolled in the Scleroderma Patient-centered Intervention Network Cohort completed the SAAS and measures of appearance-related concerns and psychological distress. Confirmatory factor analysis (CFA) was used to examine the structural validity of the SAAS. Multiple-group CFA was used to determine if SAAS scores can be compared across patients with limited and diffuse disease subtypes. Cronbach's alpha was used to examine internal consistency reliability. Correlations of SAAS scores with measures of body image dissatisfaction, fear of negative evaluation, social anxiety, and depression were used to examine convergent validity. SAAS scores were hypothesized to be positively associated with all convergent validity measures, with correlations significant and moderate to large in size. A total of 938 patients with SSc were included. CFA supported a one-factor structure (CFI: .92; SRMR: .04; RMSEA: .08), and multiple-group CFA indicate