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Systemic sclerosis

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https://www.readbyqxmd.com/read/29036808/ecotropic-viral-integration-site-5-evi5-expression-analysis-in-multiple-sclerosis-patients
#1
Mehrdokht Mazdeh, Mahnoosh Rahimi, Mohammad Mahdi Eftekharian, Mir Davood Omrani, Arezou Sayad, Mohammad Taheri, Soudeh Ghafouri-Fard
BACKGROUND: Multiple sclerosis (MS) is a complex immune-related disorder of the central nervous system (CNS) in which dysregulation of different classes of T cells are involved. Variants in Ecotropic Viral Integration Site 5 (EVI5) gene has been shown to be significantly associated with MS in different populations. OBJECTIVES: However, there is no data regarding relative expression of this gene in peripheral blood of MS patients compared with healthy controls. METHODS: In the present study we assessed expression of EVI5 in 50 Iranian MS patients compared with healthy subjects by means of quantitative real time RT-PCR...
September 8, 2017: Human Antibodies
https://www.readbyqxmd.com/read/29036804/rheopheresis-as-a-causal-therapy-option-for-systemic-scleroderma-ssc
#2
Stine Lutze, G Daeschlein, W Konschake, Michael Jünger
A complex pathomechanism accounts systemic sclerosis as a form of collagenosis. A triad of vasculopathy, autoinflammation, and dysbalance of the fibroblast function can be seen as cause, as well as symptomatic appearance. Comparative with other collagenoses, e.g. Lupus erythematosus, vasculopathy, instead of autoinflammation, appears to be clinically important in systemic scleroderma. The fact that autoinflammation does not represent the major role in the maintenance of the disease is also evident by the lack of therapeutic effects of classical systemic immunosuppressants...
October 7, 2017: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29036691/nuclear-localized-c9orf72-associated-arginine-containing-dipeptides-exhibit-age-dependent-toxicity-in-c-elegans
#3
Paige Rudich, Carley Snoznik, Simon C Watkins, John Monaghan, Udai Bhan Pandey, Todd Lamitina
A hexanucleotide repeat expansion mutation in the C9orf72 gene represents a prevalent genetic cause of several neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Non-canonical translation of this repeat gives rise to several distinct dipeptide protein species that could play pathological roles in disease. Here, we show in the model system C. elegans that expression of the arginine-containing dipeptides, but not alanine-containing dipeptides, produces toxic phenotypes in multiple cellular contexts, including motor neurons...
September 27, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29036539/immune-cells-and-autoantibodies-in-pulmonary-arterial-hypertension
#4
Cheng Li, Pingping Liu, Rong Song, Yiqing Zhang, S Lei, Shangjie Wu
Analyses of immunity in pulmonary arterial hypertension (PAH) support the notion that maladaptation of the immune response exists. Altered immunity is an increasingly recognized feature of PAH. Indeed, a delicate balance between immunity and tolerance exists and any disturbance may result in chronic inflammation or autoimmunity. This is suggested by infiltration of various immune cells (e.g. macrophages, T and B lymphocytes) in remodeled pulmonary vessels. In addition, several types of autoantibodies directed against antinuclear antigens, endothelial cells (ECs) and fibroblasts have been found in idiopathic and systemic sclerosis-associated PAH...
September 27, 2017: Acta Biochimica et Biophysica Sinica
https://www.readbyqxmd.com/read/29036318/dimm-sc-a-dirichlet-mixture-model-for-clustering-droplet-based-single-cell-transcriptomic-data
#5
Zhe Sun, Ting Wang, Ke Deng, Xiao-Feng Wang, Robert Lafyatis, Ying Ding, Ming Hu, Wei Chen
Motivation: Single cell transcriptome sequencing (scRNA-Seq) has become a revolutionary tool to study cellular and molecular processes at single cell resolution. Among existing technologies, the recently developed droplet-based platform enables efficient parallel processing of thousands of single cells with direct counting of transcript copies using Unique Molecular Identifier (UMI). Despite the technology advances, statistical methods and computational tools are still lacking for analyzing droplet-based scRNA-Seq data...
August 2, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29035287/cardio-pulmonary-involvement-in-systemic-sclerosis-a-study-at-a-tertiary-care-center
#6
Geetakiran Arakkal, Sudha Rani Chintagunta, Vasavilatha Chandika, Sudha Vani Damarla, Srinivas Manchala, B Udaya Kumar
BACKGROUND: Systemic sclerosis is a multisystem disorder characterized by microangiopathy, dysregulation of the immune system and massive deposition of collagen in the connective tissue of the skin, blood vessels and various internal organs. Although the mortality from renal crises has dropped significantly due to the use of angiotensin-converting enzyme inhibitors, cardiac and pulmonary involvement accounts for significant morbidity and mortality. We studied 28 patients with systemic sclerosis at Gandhi Medical College and Hospital, Hyderabad, over a period of two years for cardiopulmonary involvement...
November 2017: Indian Journal of Dermatology, Venereology and Leprology
https://www.readbyqxmd.com/read/29035173/one-year-in-review-2017-systemic-sclerosis
#7
REVIEW
Simone Barsotti, Cosimo Bruni, Martina Orlandi, Alessandra Della Rossa, Emiliano Marasco, Veronica Codullo, Serena Guiducci
Systemic sclerosis is a rare acquired systemic disease characterised by heterogeneous evolution and outcome. Each year novel insights into the pathogenesis, diagnosis and treatment of this severe disease have been published. We herewith provide our overview of the most significant literature contributions published over the last year.
September 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29034884/generation-of-six-multiple-sclerosis-patient-derived-induced-pluripotent-stem-cell-lines
#8
L Miquel-Serra, A Duarri, Y Muñoz, B Kuebler, B Aran, C Costa, M Martí, M Comabella, S Malhotra, X Montalban, A Veiga, A Raya
Multiple sclerosis (MS) is considered a chronic autoimmune disease of the central nervous system that leads to gliosis, demyelination, axonal damage and neuronal death. The MS disease aetiology is unknown, though a polymorphism of the TNFRSF1A gene, rs1800693, is known to confer an increased risk for MS. Using retroviral delivery of reprogramming transgenes, we generated six MS patient-specific iPSC lines with two distinct genotypes, CC or TT, of the polymorphism rs1800693. iPSC lines had normal karyotype, expressed pluripotency genes and differentiated into the three germ layers...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034645/peripheral-neuropathy-in-multiple-sclerosis-an-electrophysiologic-study-in-iranian-patients
#9
Mohammad Reza Emad, Leila Zeinali, Alireza Nikseresht, Mahshid Naseri, Hajar Karimian
Multiple sclerosis (MS) is the most common cause of disability after trauma in young adults in Northern Hemisphere; it imposes a major burden on the affected young people. A significant association between MS and demyelinating peripheral neuropathy which might be due to common pathogenesis for the central and peripheral nerves demyelination has been reported in several studies. We aimed to assess if there is any peripheral nervous system involvement in a sample of Iranian MS population. Extensive nerve conduction studies (NCS) were conducted in 20 MS patients according to McDonald criteria, and 20 age and gender matched healthy appearing controls...
August 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/29034286/data-of-indirect-immunofluorescence-labeling-of-the-mouse-brain-sections-with-sera-from-sle-and-ms-patients
#10
Ayse Ilksen Colpak, Banu Balci-Peynircioglu, Alp Can, Yasemin Gursoy-Ozdemir, Sevda Lule, Umut Kalyoncu, Turgay Dalkara
The data presented in this article are related to the research article entitled "Behcet Disease serum is immunoreactive to neurofilament medium which share common epitopes to bacterial HSP-65, a putative trigger" (Lule et a. 2017) [1]. The immunoreactivity to self-antigens is well characterized for systemic lupus erythematosus (SLE) and multiple sclerosis (MS) (Magro Checa et al., 2013) [2]. Indirect immunofluorescence labeling of the mouse tissue sections with patient sera has recently been popular to discover novel epitopes and gain mechanistic insight to diseases with dysregulated immunity (Lennon et al...
December 2017: Data in Brief
https://www.readbyqxmd.com/read/29033951/sphingosine-1-phosphate-receptor-5-modulates-early-stage-processes-during-fibrogenesis-in-a-mouse-model-of-systemic-sclerosis-a-pilot-study
#11
Katrin G Schmidt, Martina Herrero San Juan, Sandra Trautmann, Lucija Berninger, Anja Schwiebs, Florian M Ottenlinger, Dominique Thomas, Frank Zaucke, Josef M Pfeilschifter, Heinfried H Radeke
Systemic sclerosis (SSc) is a rare multi-organ autoimmune disease characterized by progressive skin fibrosis. Inflammation, type 2 immunity, and fibrogenic processes are involved in disease development and may be affected by sphingolipids. However, details about early-stage pathophysiological mechanisms and implicated mediators remain elusive. The sphingolipid sphingosine-1-phosphate (S1P) is elevated in the sera of SSc patients, and its receptor S1P5 is expressed in skin tissue. Nevertheless, almost nothing is known about the dermatological contribution of S1P5 to inflammatory and pro-fibrotic processes leading to the pathological changes seen in SSc...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29033729/use-of-rocuronium-and-sugammadex-under-neuromuscular-transmission-monitoring-in-a-patient-with-multiple-sclerosis
#12
Chryssoula Staikou, Martina Rekatsina
Multiple sclerosis (MS) is a potentially disabling disease characterized by demyelinating lesions in the central nervous system. One of the anesthetic challenges encountered in surgical patients with MS is the management of neuromuscular blockade (NMB) and its reversal. We report a case of a 31-year-old female patient suffering from MS, who underwent gynecological surgery under general anesthesia with sevoflurane, fentanyl, and rocuronium which was successfully reversed with sugammadex. Neuromuscular transmission (NMT) monitoring was used to guide the intraoperative doses of rocuronium and also the reversal of NMB by the use of sugammadex to ensure a safe tracheal extubation...
October 2017: Saudi Journal of Anaesthesia
https://www.readbyqxmd.com/read/29033556/swallowing-difficulties-with-medication-intake-assessed-with-a-novel-self-report-questionnaire-in-patients-with-systemic-sclerosis-a-cross-sectional-population-study
#13
Markus Messerli, Rebecca Aschwanden, Michael Buslau, Kurt E Hersberger, Isabelle Arnet
OBJECTIVES: To assess subjective swallowing difficulties (SD) with medication intake and their practical consequences in patients suffering from systemic sclerosis (SSc) with a novel self-report questionnaire. DESIGN AND SETTING: Based on a systematic literature review, we developed a self-report questionnaire and got it approved by an expert panel. Subsequently, we sent the questionnaire by post mail to SSc patients of the European Center for the Rehabilitation of Scleroderma Rheinfelden, Switzerland...
2017: Patient Preference and Adherence
https://www.readbyqxmd.com/read/29032493/disease-modifying-therapies-for-multiple-sclerosis-a-systematic-literature-review-of-cost-effectiveness-studies
#14
REVIEW
Sergio Iannazzo, Ange-Christelle Iliza, Louise Perrault
INTRODUCTION AND OBJECTIVE: Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system. MS is considered incurable; however, disease treatment has advanced significantly over the past several decades with the introduction of disease-modifying therapies (DMTs). The current study reviewed the cost-effectiveness analyses of DMTs in relapsing-remitting MS (RRMS) patients. METHODS: A systematic literature search of bibliographic databases was conducted to identify economic evaluations published after 2007...
October 14, 2017: PharmacoEconomics
https://www.readbyqxmd.com/read/29032462/association-of-tnfsf4-polymorphisms-with-neuromyelitis-optica-spectrum-disorders-in-a-chinese-population
#15
Zhiyun Lian, Ju Liu, Ziyan Shi, Hongxi Chen, Qin Zhang, Huiru Feng, Qin Du, Xiaohui Miao, Hongyu Zhou
The tumor necrosis factor ligand superfamily member 4 (TNFSF4) gene encodes a vital co-stimulatory molecule of the immune system and has been identified as a susceptibility locus for systemic lupus erythematosus, systemic sclerosis, and primary Sjögren's syndrome. However, the association of TNFSF4 polymorphisms with neuromyelitis optica spectrum disorders (NMOSD), an inflammatory, demyelinating autoimmune disease of the central nervous system, has not yet been investigated. To evaluate whether TNFSF4 polymorphisms contribute to risk of NMOSD, four single-nucleotide polymorphisms (SNPs) (rs1234315, rs2205960, rs704840, and rs844648) were selected and genotyped in a cohort of 312 patients with NMOSD and 487 healthy controls...
October 14, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29032433/diffuse-mesangial-sclerosis-in-a-pdss2-mutation-induced-coenzyme-q10-deficiency
#16
Béla Iványi, Gábor Z Rácz, Péter Gál, Kitti Brinyiczki, István Bódi, Tibor Kalmár, Zoltán Maróti, Csaba Bereczki
BACKGROUND: A 7-month-old male infant was admitted because he was suffering from nephrotic syndrome, along with encephalomyopathy, hypertrophic cardiomyopathy, clinically suspected deafness and retinitis pigmentosa, and an elevated serum lactate level. METHODS: Coenzyme Q10 supplementation was started because of the clinical suspicion of primary CoQ10 deficiency. Despite intensive efforts, he passed away 4 weeks after admission. RESULTS: The results of genetic tests, available postmortem, explored two hitherto undescribed mutations in the PDSS2 gene...
October 14, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29032187/agonistic-antibodies-in-systemic-sclerosis
#17
REVIEW
Gianluca Moroncini, Silvia Svegliati Baroni, Armando Gabrielli
No abstract text is available yet for this article.
October 12, 2017: Immunology Letters
https://www.readbyqxmd.com/read/29030576/genetic-induction-of-hypometabolism-by-ablation-of-mc4r-does-not-suppress-als-like-phenotypes-in-the-g93a-mutant-sod1-mouse-model
#18
Shachee Doshi, Preetika Gupta, Robert G Kalb
Dysfunction and death of motor neurons leads to progressive paralysis in amyotrophic lateral sclerosis (ALS). Recent studies have reported organism-level metabolic dysfunction as a prominent but poorly understood feature of the disease. ALS patients are hypermetabolic with increased resting energy expenditure, but if and how hypermetabolism contributes to disease pathology is unknown. We asked if decreasing metabolism in the mutant superoxide dismutase 1 (SOD1) mouse model of ALS (G93A SOD1) would alter motor function and survival...
October 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29030005/foxp3-icos-and-icosl-gene-polymorphisms-in-systemic-sclerosis-foxp3-rs2294020-is-associated-with-disease-progression-in-a-female-italian-population
#19
Fabio D'Amico, Giovanni Fiorito, Evangelia Skarmoutsou, Mariagrazia Granata, Giulio A Rossi, Chiara Trovato, Chiara Bellocchi, Maurizio Marchini, Lorenzo Beretta, Maria Clorinda Mazzarino
Systemic sclerosis (SSc), an autoimmune disorder, is characterized by vasculopathy, inflammation, progressive perivascular and interstitial fibrosis. Its pathogenesis is largely unknown, however strong evidences suggest that genetic predisposition may contribute to SSc development. Several gene polymorphisms involved in regulatory T cell function have been identified in many autoimmune diseases, including SSc. Moreover, dysregulation of co-stimulatory and/or co-inhibitory signals, including ICOS signalling, can lead to autoimmunity...
October 5, 2017: Immunobiology
https://www.readbyqxmd.com/read/29029628/erythropoietin-reduces-experimental-autoimmune-encephalomyelitis-severity-via-neuroprotective-mechanisms
#20
M Moransard, M Bednar, K Frei, M Gassmann, O O Ogunshola
BACKGROUND: Treatment with erythropoietin (Epo) in experimental autoimmune encephalomyelitis (EAE), the rodent model of multiple sclerosis (MS), has consistently been shown to ameliorate disease progression and improve overall outcome. The effect has been attributed to modulation of the immune response and/or preservation of the central nervous system (CNS) tissue integrity. It remains unclear, however, if (a) Epo acts primarily in the CNS or the periphery and if (b) Epo's beneficial effect in EAE is mainly due to maintaining CNS tissue integrity or to modulation of the immune response...
October 13, 2017: Journal of Neuroinflammation
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