ABSTRACT
Par definition: de rheumatisme (1549) puis rhumatisme (1673), emprunte par l'intermediaire du latin rheumatismus, au grec rheumatismos, elle designe un ecoulement d'humeur, en particulier un catarrhe... (AU)
Subject(s)
Case Reports , Humans , Male , Female , Adult , Rheumatology/trends , Collagen Diseases/therapy , Chronic DiseaseABSTRACT
La principal función de las fibras colágenas del cartílago es la de formar una red estable para contrarrestar la presión por el aumento de volumen generada por los agregados hidratados de proteoglicanos. La mayor parte de la colágena presente en el cartílago es la tipo II aunque tambien hay cantidades pequeñas de los tipos IV, VI, IX, X, XI, y XIV. Para estudiar la patogenia de las mutaciones de las colágenas presentes en el cartílago, se han desarrollado ratones transgénicos. Igualmente, el estudio molecular de estas proteínas han dado un fuerte impulso al conocimiento de la patogenia de algunas enfermedades hereditarias y adquiridas del cartílago. La terapia génica de las enfermedades de la colágena, especialmente las hereditarias del cartílago, ayudará a corregir estas anormalidades. Aquí revisamos todos estos aspectos
Subject(s)
Animals , Mice , Collagen/physiology , Collagen/genetics , Collagen/chemistry , Cartilage Diseases/genetics , Cartilage Diseases/therapy , Collagen Diseases/genetics , Collagen Diseases/therapy , Genetic Therapy , MutationABSTRACT
The main functional role of the collagenous cartilage fibers is to form a stable network to counteract the hydrodynamic pressure generated by the highly hydrodynamic proteoglycan aggregates. The main collagen present in human cartilage is type II, but other proteins such as type IV, VI, IX, X, XI and XIV are also found albeit in small quantities. Several transgenic mice have been developed to study the structural abnormalities as they relate to human disease. Similarly, the study of these structural abnormalities has renewed the interest regarding their pathogenetic role in some hereditary and acquired diseases of cartilage in humans. It is hoped that gene therapy will help correct these abnormalities. We review here these topics.
Subject(s)
Cartilage, Articular/chemistry , Collagen Diseases/genetics , Collagen/genetics , Animals , Cartilage, Articular/physiology , Collagen/chemistry , Collagen/classification , Collagen/physiology , Collagen Diseases/classification , Collagen Diseases/therapy , Connective Tissue Diseases/genetics , Genetic Therapy , Humans , Mice , Mice, Transgenic , MutationSubject(s)
Humans , Collagen Diseases/classification , Collagen Diseases/complications , Collagen Diseases/diagnosis , Collagen Diseases/epidemiology , Collagen Diseases/etiology , Collagen Diseases/physiopathology , Collagen Diseases/pathology , Collagen Diseases/drug therapy , Collagen Diseases , Collagen Diseases/therapy , Lung Diseases/etiology , Lung Diseases/physiopathology , Lung Diseases/immunologyABSTRACT
Connective tissue disease may alter esophageal function generating symptoms due to gastroesophageal reflux and motor disturbances. Fifteen patients with connective tissue diseases and severe esophagitis defined by the presence of esophageal stenosis or ulcerations were studied. Diagnosis was made with radiologic, endoscopic and manometric studies. Dysphagia was present in 11 and gastroesophageal reflux in all. All patients has an hypotensive and shorter lower esophageal sphincter. Better therapeutic results were obtained with surgical treatment.
Subject(s)
Collagen Diseases/complications , Esophagitis/diagnosis , Adult , Collagen Diseases/physiopathology , Collagen Diseases/therapy , Esophagitis/etiology , Esophagitis/physiopathology , Esophagitis/therapy , Esophagogastric Junction/physiopathology , Female , Gastroesophageal Reflux/etiology , Gastroesophageal Reflux/physiopathology , Gastroesophageal Reflux/therapy , Humans , Male , Manometry , Middle Aged , Prospective Studies , Severity of Illness IndexABSTRACT
Quatorze pacientes portadores de lúpus eritematoso sistêmico (LES) foram investigados quanto à presença de manifestaçöes pleuropulmonares, encontradas em nove. Pleuris foi achado mais freqüente (44,4%); pneumonite lúpica, infecçäo bacteriana, doença intersticial crônica, congestäo pulmonar e disfunçäo diagragmática foram também encontrados. Três pacientes foram submetidos a provas de funçäo pulmonar, sendo em todos encontrada capacidade vital inferior a 70% do predito. FAN positivo foi a alteraçäo sérica mais encontrada (88,8%). Anemia e nefrite foram tambem encontradas com freqüência. Em seis pacientes com doença pulmonar e renal, a depuraçäo da creatinina foi a prova de maior sensibilidade para a deteccäo de lesäo renal (média de 67,75 ñ 28,03ml/min). Todos estes resultados säo confrontados com estudos clínicos de outros autores