ABSTRACT
Objetivo. Valorar la calidad de vida en personas con defecto congénito de fémur. Material y método. Se trata de un estudio transversal. La población está formada por 92 pacientes diagnosticados de fémur corto congénito desde 1969. Los criterios de inclusión fueron tener 15 años de edad o más y tener datos de domiciliación o de teléfono de contacto. La calidad de vida se midió con el cuestionario de salud SF-12 aplicado de mayo a octubre de 2003 telefónicamente, previa petición de consentimiento informado. Los resultados fueron comparados con una población de referencia. Resultados. Sólo 39 pacientes se incluyeron en el estudio. La media de edad fue de 26,2 años (hombres 24,8 años; mujeres 27,6 años). El 48,7% eran hombres y el 51,3% mujeres. No se detectaron diferencias en las medias de los componentes físico (PCS) y mental (MCS) entre hombres y mujeres, ni entre los distintos estratos de edad. El 100% obtuvo una puntuación MCS considerada como normal y el 20,5% obtuvo una puntuación PCS anormal. Conclusión. La calidad de vida de estos pacientes para el componente físico es anormal en los pacientes más jóvenes. Sorprende que el componente mental sea normal en todos. Podría deberse al hecho de ser un trastorno que se padece desde el mismo momento del nacimiento, y no tener un impacto psicosocial tan fuerte como con otro tipo de problemas
Materials and methods. This was a cross-sectional study. The study population was 92 patients diagnosed since 1969 with congenital short femur. Inclusion criteria were: patients should be over 15 years of age and possess a known address or telephone number. Quality of life was determined from May to October 2003 by means of telephone interviews, carried out after obtaining informed consent, using Health Questionnaire SF-12. The results were compared to those obtained in a reference population. Results. Only 39 patients participated in the study, of whom 48.7% were male and 51.3% were female. Mean age: 26.2 years (men: 24.8 years; women: 27.6 years). No differences were detected between men and women, nor across different age groups, with reference to the mean physical (PCS) and mental (MCS) variables. One hundred percent of the population had a normal MCS and 20.5% had an abnormal PCS. Conclusion. Quality of life based on PCS is abnormal in younger patients. It is surprising that MCS should be normal in all patients. This could be due to the fact that this condition is present from birth and therefore does not have such a strong psychosocial impact as other conditions
Subject(s)
Humans , Male , Female , Femur/abnormalities , Limb Deformities, Congenital/complications , Quality of Life , Sickness Impact Profile , Disability EvaluationABSTRACT
Tumoral calcinosis (TC) is an uncommon disease, characterized by deposits of large, calcified painless soft-tissue masses around major joints in otherwise healthy children and young adults. This condition is a rare inherited metabolic disorder of unknown etiology. Biochemical findings are normal except for its occasional association with hyperphosphatemia. The youngest occurrence reported in the literature on TC may be one case of a five-month-old boy. The authors report here on two younger infants with TC, one aged ten days and the other aged three months, who were followed for more than three years and observed to completely recover all motorskeletal functions.
