RESUMEN
Introducción. El síndrome de Turner (ST) es una condición genética que se presenta en mujeres por la ausencia parcial o total de un cromosoma X El objetivo de este documento es describir en un grupo selecto de pacientes con ST, la comorbilidad asociada a esta entidad, las dificultades del diagnóstico y algunos aspectos del entorno social de estas niñas. Métodos. Los datos analizados fueron obtenidos de integrantes de la Asociación de Síndrome de Turner de México A.C. Se realizó un cuestionario, mediciones antropométricas y pruebas de laboratorio para explorar comorbilidades, así como la problemática diagnóstica y social. Resultados. Se revelaron un diagnóstico tardío y un seguimiento inadecuado de las pacientes, que no permite la detección de comorbilidades, con menoscabo en la calidad de vida y falta de integración social de quienes nacen con este síndrome. Conclusiones. Es necesario fortalecer la educación continua de médicos de primer contacto y de la población general para realizar un diagnóstico temprano, y proveer un tratamiento oportuno y seguimiento de calidad a las personas con esta patología. De igual manera se requiere generar alianzas interinstitucionales y de las organizaciones gubernamentales con el propósito de disminuir dificultades sociales que se presentan en quienes padecen ST.
Background. Turner syndrome (TS) is a condition that presents in females with partial or total absence of the X chromosome. The aim of this article is to describe, in a select group of patients with Turner syndrome, comorbidity associated with this entity, diagnostic difficulties and some aspects related to the social environment of these patients. Analyzed data were obtained from members of the Turner Syndrome Association of Mexico AC. Methods. A questionnaire was administered and anthropometric measurements and laboratory studies were performed to explore comorbidities as well as diagnostic and social problems presented in these patients. Results. There was a delayed diagnosis and inadequate follow-up of these patients with poor detection of comorbidities and a probable lack of social integration of those females born with this syndrome. Conclusions. We need to continuously educate the medical community in regard to early detection and referral of these patients, both in the primary care setting as well as in the community, and also to implement strategies to improve social performance of those with Turner syndrome.
RESUMEN
BACKGROUND: Because postlicensure surveillance determined that a previous rotavirus vaccine, RotaShield, caused intussusception in 1 of every 10,000 recipients, we assessed the association of the new monovalent rotavirus vaccine (RV1) with intussusception after routine immunization of infants in Mexico and Brazil. METHODS: We used case-series and case-control methods to assess the association between RV1 and intussusception. Infants with intussusception were identified through active surveillance at 69 hospitals (16 in Mexico and 53 in Brazil), and age-matched infants from the same neighborhood were enrolled as controls. Vaccination dates were verified by a review of vaccination cards or clinic records. RESULTS: We enrolled 615 case patients (285 in Mexico and 330 in Brazil) and 2050 controls. An increased risk of intussusception 1 to 7 days after the first dose of RV1 was identified among infants in Mexico with the use of both the case-series method (incidence ratio, 5.3; 95% confidence interval [CI], 3.0 to 9.3) and the case-control method (odds ratio, 5.8; 95% CI, 2.6 to 13.0). No significant risk was found after the first dose among infants in Brazil, but an increased risk, albeit smaller than that seen after the first dose in Mexico--an increase by a factor of 1.9 to 2.6 - was seen 1 to 7 days after the second dose. A combined annual excess of 96 cases of intussusception in Mexico (approximately 1 per 51,000 infants) and in Brazil (approximately 1 per 68,000 infants) and of 5 deaths due to intussusception was attributable to RV1. However, RV1 prevented approximately 80,000 hospitalizations and 1300 deaths from diarrhea each year in these two countries. CONCLUSIONS: RV1 was associated with a short-term risk of intussusception in approximately 1 of every 51,000 to 68,000 vaccinated infants. The absolute number of deaths and hospitalizations averted because of vaccination far exceeded the number of intussusception cases that may have been associated with vaccination. (Funded in part by the GAVI Alliance and the U.S. Department of Health and Human Services.).