Seminarios de la Fundación Espa?ola de Reumatología最新文献_第8页

Preesclerodermia 硬皮病前期

Seminarios de la Fundación Espa?ola de Reumatología Pub Date : 2011-10-01 DOI: 10.1016/j.semreu.2011.07.006

Sagrario Bustabad, Beatriz Rodríguez-Lozano, Juan José Bethencourt, Esmeralda Delgado

引用次数: 0

Enfermedad de Marfan: revisión clinicoterapéutica y guías de seguimiento 马凡氏病:临床治疗综述和随访指南

Seminarios de la Fundación Espa?ola de Reumatología Pub Date : 2011-10-01 DOI: 10.1016/j.semreu.2011.09.001

Rosario Sánchez Martínez

{"title":"Enfermedad de Marfan: revisión clinicoterapéutica y guías de seguimiento","authors":"Rosario Sánchez Martínez","doi":"10.1016/j.semreu.2011.09.001","DOIUrl":"10.1016/j.semreu.2011.09.001","url":null,"abstract":"<div>Marfan's disease is provoked by a heterozygotic mutation in the gene codifying fibrillin-1 and is transmitted in an autosomic dominant form. The incidence is 1 out of every 10,000 live births, making it one of the most frequent hereditary connective tissue diseases.Since Antoine-Bernard-Jean Marfan first described the syndrome in 1986, knowledge of this entity has progressively increased. Affected areas include the eyes, skeletal and cardiovascular systems, the lung, skin and the tissue covering the spinal cord, which have been described in the Ghent criteria, currently the basis for diagnosis.Diagnosis of Marfan's disease can be difficult because the clinical findings are age-dependent, sometimes leading to difficulties in diagnosing children and young patients. Some of these findings are also frequent in the general population without the disease. Furthermore, the disease has high penetration but there is wide phenotypic variability and substantial overlap with the distinct collagen diseases, hampering differential diagnosis.In recent years, interest in Marfan's syndrome has grown due to the detection of other diseases with marfanoid phenotype and mutations in the fibrillin-1 gene and the development of aggressive medical and surgical treatment that has radically changed prognosis. Because Marfan's disease is multisystemic, multidisciplinary management is required.</div>","PeriodicalId":101152,"journal":{"name":"Seminarios de la Fundación Espa?ola de Reumatología","volume":"12 4","pages":"Pages 112-122"},"PeriodicalIF":0.0,"publicationDate":"2011-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.semreu.2011.09.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"55152698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 5

MediRank Centros Médicos España, 2011-12 MediRank医疗中心西班牙，2011-12

Seminarios de la Fundación Espa?ola de Reumatología Pub Date : 2011-10-01 DOI: 10.1016/j.semreu.2011.07.005

Alejandro Olivé

引用次数: 0

Seminarios de la Fundación Espa?ola de Reumatología Pub Date : 2011-10-01 DOI: 10.1016/j.semreu.2011.09.002

引用次数: 0

Hiperglucemia inducida por glucocorticoides 糖皮质激素诱导的高血糖

Seminarios de la Fundación Espa?ola de Reumatología Pub Date : 2011-07-01 DOI: 10.1016/j.semreu.2011.04.004

Ignasi Saigí Ullastre , Antonio Pérez Pérez

引用次数: 7

El reumatólogo en la industria farmacéutica. Retrato de una experiencia 制药行业的风湿病学家。体验的肖像

Seminarios de la Fundación Espa?ola de Reumatología Pub Date : 2011-07-01 DOI: 10.1016/j.semreu.2011.04.003

Gema Díaz Moya

引用次数: 0

Los otros biomarcadores. ¿Qué debe saber el reumatólogo? 其他生物标志物。风湿病专家应该知道什么？

Seminarios de la Fundación Espa?ola de Reumatología Pub Date : 2011-07-01 DOI: 10.1016/j.semreu.2011.02.002

Lucía Silva Fernández, Carmen Barbadillo Mateos, Mónica Fernández Castro, Teresa Otón Sánchez

引用次数: 3

Seminarios de la Fundación Espa?ola de Reumatología Pub Date : 2011-07-01 DOI: 10.1016/j.semreu.2011.06.003

Lucia Silva Fernández, Carmen Barbadillo Mateos, Mónica Fernández Castro, Teresa Otón Sánchez

引用次数: 0

Síndrome de Camurati-Engelmann Camurati-Engelmann综合征

Seminarios de la Fundación Espa?ola de Reumatología Pub Date : 2011-07-01 DOI: 10.1016/j.semreu.2011.06.002

María Dolores Garcia Armario, Carmen Vargas Lebron

{"title":"Síndrome de Camurati-Engelmann","authors":"María Dolores Garcia Armario, Carmen Vargas Lebron","doi":"10.1016/j.semreu.2011.06.002","DOIUrl":"https://doi.org/10.1016/j.semreu.2011.06.002","url":null,"abstract":"<div>Camurati-Engelmann disease (CED), or progressive diaphyseal dysplasia, is characterized by hyperostosis of the diaphyses of the long bones (tibiae, femora, humeri…) that appears gradually and can affect the metaphyses; the epiphyses, however, are characteristically spared. In addition, other bones, such as the skull, may be affected.CED is a rare autosomal dominant genetic disorder. Penetrance is reduced and expressivity is variable. Over 200 patients of both genders and all races have been described.CED is caused by a mutation in the gene encoding for transforming growth factor ß-1.Typically, CED symptoms begin in childhood and usually consist of a waddling gait, bone pain in the lower limbs, muscular weakness and reduced subcutaneous fat. If the skull is affected, neurological symptoms can appear, the most common being hearing loss.Diagnosis is based on clinical findings and typical radiographic changes (gradual and irregular thickening of the diaphysis of the long bones). Scintigraphy is also useful in diagnosis. Definitive diagnosis is provided by mutation analysis.The main treatment for this disease consists of glucocorticoids. In the future, gene therapy may provide a cure for CED.</div>","PeriodicalId":101152,"journal":{"name":"Seminarios de la Fundación Espa?ola de Reumatología","volume":"12 3","pages":"Pages 91-97"},"PeriodicalIF":0.0,"publicationDate":"2011-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.semreu.2011.06.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72279123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 6

Evidencias sobre la eficacia de los tratamientos biológicos en las vasculitis sistémicas 关于生物治疗系统性血管炎有效性的证据

Seminarios de la Fundación Espa?ola de Reumatología Pub Date : 2011-07-01 DOI: 10.1016/j.semreu.2010.05.005

María Granados Ruiz, Inmaculada Gómez Gracia, M. Ángeles Aguirre Zamorano

引用次数: 0