RESUMEN
Marfan syndrome is the second most common inherited connective tissue disorder after osteogenesis imperfecta. Musculoskeletal abnormalities are at the forefront of the clinical picture and count among the major diagnostic criteria for Marfan syndrome, together with cardiovascular and ocular system involvement. Early diagnosis is of the utmost importance since preventive measures significantly increase life expectancy and prevent the occurrence of impairments and disabilities. Marfan syndrome is due to mutations within the fibrillin-1 gene, which is the main protein of the microfibril network. Microfibrils play a crucial role in the trophicity and function of elastic tissue. Multidisciplinary management of the patients and their families is vital.
Asunto(s)
Proteínas de la Matriz Extracelular/genética , Síndrome de Marfan , Proteínas de Microfilamentos/genética , Fibrilina-1 , Fibrilinas , Humanos , Síndrome de Marfan/genética , Síndrome de Marfan/fisiopatología , Síndrome de Marfan/rehabilitación , Anomalías Musculoesqueléticas/genética , Anomalías Musculoesqueléticas/fisiopatología , Mutación PuntualRESUMEN
The availability of multidisciplinary care for rheumatoid arthritis is still limited. The Raoul Dufy Program offered by the Saint-Antoine Teaching Hospital in Paris provides one-on-one personalized care in a day hospital setting as an adjunct to conventional medical follow-up. Listening and providing information and education are major objectives of the nurse, rheumatologist and physical therapist participating in the program. The team also includes a social worker, a surgeon, a dietician, a podiatrist and a psychologist, who intervene as needed. Seventy patients attended the program between December 1993 and September 1995 and were asked to complete a baseline and a three-month questionnaire designed to evaluate the effects of the program in terms of new therapeutic interventions, patient knowledge and quality of life. The patient knowledge score increased significantly (P < 0.0001). Many therapeutic interventions were initiated after program attendance, especially in the fields of podiatry, psychology and physical therapy. However, the quality of life score failed to improve. These results and the substantial patient demand for appointments are encouraging. Further work is needed on the methodology of multidisciplinary care evaluation. Coping strategy evaluation tools may allow to identify some of the specific benefits provided by the multidisciplinary approach.
Asunto(s)
Atención Ambulatoria/métodos , Artritis Reumatoide/terapia , Grupo de Atención al Paciente , Calidad de Vida , Adulto , Artritis Reumatoide/diagnóstico , Artritis Reumatoide/rehabilitación , Terapia Combinada , Femenino , Hospitales de Enseñanza , Humanos , Masculino , Persona de Mediana Edad , Dimensión del Dolor , Paris , Educación del Paciente como Asunto/métodos , Satisfacción del Paciente , Evaluación de Programas y Proyectos de Salud , Rango del Movimiento Articular , Encuestas y CuestionariosRESUMEN
We report a new case of chemodectoma of the cauda equina, in a 52-year-old male who presented with low back pain and sciatica, then rapidly developed cauda equina syndrome. Magnetic resonance imaging demonstrated a tumor at the L2-L3 level. Complete excision was performed and the tumor was found to be a chemodectoma. Chemodectomas are rare neural crest tumors that are usually located at the neck. About 70 cases involving the cauda equina have been reported. Most are benign, although local recurrences occur in 4% of cases. A case with a cerebellar metastasis has been reported. Long-term follow-up should be provided.