A5007878256- Systemic Sclerosis and Related Diseases
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Dermatologic Treatments and Research
- Vasculitis and related conditions
- IL-33, ST2, and ILC Pathways
- Celiac Disease Research and Management
- Systemic Lupus Erythematosus Research
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Eosinophilic Disorders and Syndromes
- Inflammatory Myopathies and Dermatomyositis
- Pulmonary Hypertension Research and Treatments
- Atrial Fibrillation Management and Outcomes
- Voice and Speech Disorders
- Biomarkers in Disease Mechanisms
- Mast cells and histamine
- Inflammasome and immune disorders
- Skin and Cellular Biology Research
- Ultrasound and Hyperthermia Applications
- T-cell and Retrovirus Studies
- Healthcare Systems and Public Health
- Spine and Intervertebral Disc Pathology
- Cardiovascular Disease and Adiposity
- Scoliosis diagnosis and treatment
- Venous Thromboembolism Diagnosis and Management
- Effects of Vibration on Health
Karolinska Institutet
2013-2023
Karolinska University Hospital
2013-2022
University of Cologne
2012
University of Milan
2011
Hospital Clínico San Carlos
2011
Ospedale Maggiore
2011
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2011
Instituto de Parasitología y Biomedicina "López - Neyra"
2011
The aim of this study was to determine, through a genome-wide association (GWAS), the genetic components contributing different clinical sub-phenotypes systemic sclerosis (SSc). We considered limited (lcSSc) and diffuse (dcSSc) cutaneous involvement, relationships with presence SSc-specific auto-antibodies, anti-centromere (ACA), anti-topoisomerase I (ATA). Four GWAS cohorts, comprising 2,296 SSc patients 5,171 healthy controls, were meta-analyzed looking for associations in selected...
A single-nucleotide polymorphism (SNP) at the IL12RB2 locus showed a suggestive association signal in previously published genome-wide study (GWAS) systemic sclerosis (SSc). Aiming to reveal possible implication of gene SSc, we conducted follow-up this different Caucasian cohorts. We analyzed 10 GWAS-genotyped SNPs region (2309 SSc patients and 5161 controls). then selected three (rs3790567, rs3790566 rs924080) based on their significance level GWAS, for an independent European cohort...
Objectives The aim of this study was to confirm the influence TNFSF4 polymorphisms on systemic sclerosis (SSc) susceptibility and phenotypic features. Methods A total 8 European populations Caucasian ancestry were included, comprising 3014 patients with SSc 3125 healthy controls. Four genetic variants gene promoter (rs1234314, rs844644, rs844648 rs12039904) selected as markers. Results pooled analysis revealed association rs1234314 rs12039904 (OR 1.15, 95% CI 1.02 1.31; OR 1.18, 1.08 1.29,...
<h3>Introduction</h3> A recent genome-wide association study in European systemic sclerosis (SSc) patients identified three loci (<i>PSORS1C1</i>, <i>TNIP1</i> and <i>RHOB</i>) as novel genetic risk factors for the disease. The aim of this was to replicate previously mentioned findings a large multicentre independent SSc cohort Caucasian ancestry. <h3>Methods</h3> 4389 7611 healthy controls from different countries USA were included study. Six single nucleotide polymorphisms (SNP): rs342070,...
While microvascular disease is well described in systemic sclerosis (SSc), it still unclear whether the occurrence of ischemic macrovascular events and atherosclerosis enhanced among patients with SSc. In this study, 111 SSc (74% prevalent cases Stockholm County) 105 age- sex-comparable population controls were investigated. Previous arterial tabulated. As surrogate measures atherosclerosis, plaque intima-media thickness (IMT) determined carotid ultrasound ankle-brachial index (ABI) was...
Systemic sclerosis (SSc) and rheumatoid arthritis (RA) are autoimmune diseases that have similar clinical immunologic characteristics. To date, several shared SSc-RA genetic loci been identified independently. The aim of the current study was to systematically search for new common through an interdisease meta-genome-wide association (meta-GWAS) strategy.The designed as a meta-analysis combining GWAS data sets patients with SSc RA, using strategy allowed identification both same-direction...
Systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) are autoimmune diseases that predominantly affect female patients, therefore fewer investigations have been conducted in men. The aim of this study was to analyze sex hormone levels male patients with SLE those SSc, compared matched controls, relation the use corticosteroids cyclophosphamide (CYC).Sex were measured fasting blood samples from (n = 71) SSc 29) population-based, age-matched controls. Relevant profiles identified...
Objective The interleukin 2 ( IL-2 ) and 21 IL-21) locus at chromosome 4q27 has been associated with several autoimmune diseases, both genes are related to immune system functions. aim of this study was evaluate the role IL-2/IL-21 in systemic sclerosis (SSc). Patients methods case control included 4493 SSc Caucasian patients 5856 healthy controls from eight populations (Spain, Germany, Netherlands, USA, Italy, Sweden, UK Norway). Four single nucleotide polymorphisms (rs2069762, rs6822844,...
ObjectiveLumbar spinal stenosis is one of the most commonly diagnosed disorders in older adults. Although pathophysiology clinical syndrome not well understood, a narrow central canal or intervertebral foramen an essential defining feature. The aim present study was to estimate magnitude genetic versus environmental influences on lumbar and investigate disc degeneration stature bone development as possible pathways. MethodsA classic twin with multivariate analyses considering level other...
No previous studies have examined the effect of intensive exercise in systemic sclerosis patients with pulmonary impairment. The objective this study was to examine an eight-week aerobic and muscle endurance training program for 50-100% forced vital capacity.A single-subject experimental design repeated systematic measures during a six week A-phase (non-interventional baseline period) eight B-phase (exercise intervention used. Three women one man median age 66 years disease duration 3.5...
Abstract The pathophysiology of both limited cutaneous systemic sclerosis (lcSSc) and diffuse SSc (dcSSc), representing two subtypes an autoimmune disease the connective tissue, is still enigmatic. Life‐limiting, progressive fibrotic changes as a consequence vasculopathy autoimmunity are characteristic in varying extent for lc SS c dc c. Previously, increased IL ‐33 serum concentration early phase patients elevated tissue expression its receptor, ST 2L, on endothelial cells ( EC ) were...
Objectives: Patchy fibrosis of the myocardium is thought to cause conduction abnormalities in patients with systemic sclerosis (SSc). We compared prevalence and type rhythm/conduction disturbances 74% SSc Stockholm County controls.Method: A total 110 (age 62 ± 12 years) fulfilling American College Rheumatology (ACR) criteria for 105 gender- age-matched controls participated this study. 12-lead resting electrocardiogram (ECG) was performed all participants. The first 49 42 also underwent a...
Proximal muscle weakness is common in patients with systemic sclerosis (SSc). Dynamic endurance, strength the lower extremities, and active range of motion (AROM) upper extremities are less studied. We investigated functional strength, AROM, explored differences depending on skin and/or lung involvement SSc patients.The study divided 205 limited/diffuse cutaneous (lcSSc/dcSSc) into no-mild moderate-end-stage involvement, latter based Medsger disease severity score. endurance shoulder hip...
The aim of this study was to investigate pentraxin-3 (PTX3) as a potential biomarker inflammatory activity in patients with anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) at baseline and 6 month follow-up longitudinal cohort.Plasma PTX3 levels were measured 79 newly diagnosed or relapsing AAV follow-up, 23 healthy controls. Urinary 34 the patients. C-reactive protein (CRP), creatinine, albuminuria cumulative glucocorticoid dose inclusion calculated. Birmingham...
Cardiac manifestations in systemic sclerosis (SSc) are associated with poor prognosis. Few studies have investigated cardiac troponins SSc. We studied the relationships between echocardiographic abnormalities, biomarkers, and disease a population-based cohort of patients SSc controls.The study comprised 110 105 age- sex-matched controls. examined ventricular function, heart valves, estimated pulmonary arterial pressure (ePAP) by echocardiography all participants. Disease characteristics,...
Objective. To investigate expression of terminal complement components C3a and C5a on circulating myeloperoxidase (MPO)-positive microparticles (MPO+MP) in relation to disease activity renal involvement patients with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). Methods. Forty-six clinically well-characterized AAV 23 age- sex-matched healthy controls were included. The concentration MPO+MP expressing was analyzed from citrate plasma by flow cytometry. Serum levels...
Abstract Background Depressive symptoms are common in rheumatic diseases and influence patients’ quality of life. The Patient Health Questionnaire-9 (PHQ-9), which assesses depression, is valid English patients with systemic sclerosis (SSc). However, the measurement properties PHQ-8 (short version PHQ-9) have not been evaluated Swedish SSc. Objective To investigate different aspects validity reliability (PHQ-8 Swe) for individuals Methods A total 101 SSc participated. Content was via...
Objective: The aim was to investigate differences in self-reported physical capacity and activity between systemic sclerosis (SSc) patients population-based controls, as well with normal-mild, or moderate–severe, lung disease their respective controls.Method: study included 106 fulfilling the American College of Rheumatology SSc criteria individually matched for age gender. Patients were subdivided into normal–mild moderate–severe based on results from pulmonary function tests severity...
To investigate presence of circulating myeloperoxidase-positive microparticles (MPO+MPs) in relation to disease activity patients with anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). Forty-six AAV and 23 age- sex-matched healthy controls were included. Vasculitis was assessed using the Birmingham Activity Score (BVAS). MPs analyzed citrate plasma by flow cytometry phenotyped based on MPO expression co-expression pentraxin-3 (PTX3), high mobility group box 1 protein...
Abstract Objectives We investigated the incidence and potential underlying risk factors of venous thromboembolism (VTE) in patients with AAV. assessed haemostatic disturbances that might contribute to development VTE. Methods ANCA-positive AAV (n = 187) were included. Previously identified for VTE current medication retrieved from medical records. haemostasis using different methods [endogenous thrombin (ETP), overall (OHP), coagulation (OCP) fibrinolysis (OFP)] active 19), inactive 15)...