0000000000300146

AUTHOR

Miguel A. Gonzalez-gay

0000-0002-7924-7406

showing 3 related works from this author

Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study

2012

Item does not contain fulltext INTRODUCTION: A recent genome-wide association study in European systemic sclerosis (SSc) patients identified three loci (PSORS1C1, TNIP1 and RHOB) as novel genetic risk factors for the disease. The aim of this study was to replicate the previously mentioned findings in a large multicentre independent SSc cohort of Caucasian ancestry. METHODS: 4389 SSc patients and 7611 healthy controls from different European countries and the USA were included in the study. Six single nucleotide polymorphisms (SNP): rs342070, rs13021401 (RHOB), rs2233287, rs4958881, rs3792783 (TNIP1) and rs3130573 (PSORS1C1) were analysed. Overall significance was calculated by pooled analys…

Oncologymedicine.medical_specialtysystemic sclerosisRHOBImmunologyGenome-wide association studySingle-nucleotide polymorphismBioinformaticsPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyArticleWhite PeopleRheumatologyRisk FactorsInternal medicineRhoB GTP-Binding Proteinsystemic sclerosis; genome wide screening; genetic risk factorsmedicinegenetic risk factorsImmunology and AllergySNPHumansGenetic Predisposition to DiseaseAllelerhoB GTP-Binding ProteinRheumatology and AutoimmunityScleroderma Systemicbusiness.industryHaplotypeProteinsgenome wide screeningDNA-Binding ProteinsEuropeHaplotypesCohortEvaluation of complex medical interventions Auto-immunity transplantation and immunotherapy [NCEBP 2]businessGenome-Wide Association Study
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Carotid ultrasound is useful for the cardiovascular risk stratification in patients with hidradenitis suppurativa.

2018

INTRODUCTION: Hidradenitis suppurativa (HS) is a chronic inflammatory cutaneous disease which has been associated with an increased risk of adverse cardiovascular (CV) outcomes. Adequate stratification of the CV risk is an issue of major importance in patients with HS. To analyze the usefulness of carotid ultrasound (US) assessment for the CV disease risk stratification compared with a traditional score, the Framingham risk score (FRS), in a series of patients with HS. METHODS: Cross-sectional study of 60 patients with HS without history of CV events, diabetes mellitus or chronic kidney disease. Information on CV risk factors was collected and the FRS was calculated. Thus, the patients were…

medicine.medical_specialtyanimal structuresCross-sectional studyEndocrine DisordersInflammatory DiseasesCardiologylcsh:MedicineBlood PressureDiseaseVascular MedicineBiochemistry030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicineEndocrinologyDiabetes mellitusInternal medicineMedicine and Health SciencesDiabetes MellitusMedicineHumansCoronary Heart DiseaseIn patientHidradenitis suppurativalcsh:Science030203 arthritis & rheumatologyMultidisciplinaryFramingham Risk Scorebusiness.industrylcsh:RBiology and Life SciencesHealth Risk Analysismedicine.diseaseAtherosclerosisLipidsHidradenitis SuppurativaHealth CareBlood pressureCarotid ArteriesCross-Sectional StudiesCholesterolROC CurveCardiovascular DiseasesMetabolic Disorderslcsh:QbusinessKidney diseaseResearch ArticlePLoS ONE
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Influence of Antisynthetase Antibodies Specificities on Antisynthetase Syndrome Clinical Spectrum Time Course

2019

Antisynthetase syndrome (ASSD) is a rare clinical condition that is characterized by the occurrence of a classic clinical triad, encompassing myositis, arthritis, and interstitial lung disease (ILD), along with specific autoantibodies that are addressed to different aminoacyl tRNA synthetases (ARS). Until now, it has been unknown whether the presence of a different ARS might affect the clinical presentation, evolution, and outcome of ASSD. In this study, we retrospectively recorded the time of onset, characteristics, clustering of triad findings, and survival of 828 ASSD patients (593 anti-Jo1, 95 anti-PL7, 84 anti-PL12, 38 anti-EJ, and 18 anti-OJ), referring to AENEAS (American and Europea…

medicine.medical_specialtyantisynthetase antibodies; antisynthetase syndrome; arthritis; interstitial lung disease; myositisantisynthetase syndrome; antisynthetase antibodies; arthritis; myositis; interstitial lung diseaseMedizinArthritislcsh:MedicineAntisynthetase syndromeInterstitial lung diseaseAntisynthetase syndromeArticleNO03 medical and health sciences0302 clinical medicineInternal medicinemedicineantisynthetase antibodiesantisynthetase antibodies antisynthetase syndrome arthritis interstitial lung disease myositisddc:610Myositis030203 arthritis & rheumatologyinterstitial lung diseaseAntisynthetase antibodiesbiologyMyositisbusiness.industryArthritislcsh:RInterstitial lung diseaseAutoantibodyGeneral Medicinemedicine.diseasearthriti030228 respiratory systemarthritisTime courseCohortbiology.proteinAntibodyantisynthetase syndromebusinessantisynthetase antibodiemyositis
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