RESUMEN
Ovarian cancer (OC) is often asymptomatic at the initial stage. When diagnosed, up to 75% of the patients present grade III or IV tumors with metastasis in nearby organs of the abdomen. Genetic imbalance is abundant in OC, and allelic loss (AL) of specific chromosomal regions is considered an early event. To establish association between genetic markers for early diagnosis/prognosis of OC, our target was to define narrow specific regions of AL. We analyzed 65 ovarian carcinomas by using 19 microsatellite markers located in three different chromosomes. First, a 7.6-Mb region containing the estrogen receptor (ESR1) and the tumor suppressor gene LATS1 was analyzed. Several chromosomal breakpoints flanking ESR1 affecting the region harboring LATS1 were found. Second, we found chromosomal breakpoints on 13q13.1 approximately q13.3 that defined two narrow regions flanking the BRCA2 locus. Third, our ovarian tumors exhibited a very high frequency of AL on 16q and chromosomal breakpoints defining two narrow regions within 16q22.2 approximately q24.3. In this article, we report three new polymorphic microsatellite markers and strong evidence of AL of narrow well-defined regions in hot spots on 6q, 13q, and 16q in ovarian tumors.
Asunto(s)
Desequilibrio Alélico , Mapeo Cromosómico , Neoplasias Ováricas/genética , Cromosomas Humanos Par 13 , Cromosomas Humanos Par 16 , Cromosomas Humanos Par 6 , ADN de Neoplasias/genética , Femenino , Marcadores Genéticos , Humanos , Pérdida de Heterocigocidad , Repeticiones de Microsatélite , Metástasis de la Neoplasia , Estadificación de Neoplasias , Neoplasias Ováricas/patologíaRESUMEN
Sydenham's Chorea (SC), a major manifestation of acute Rheumatic Fever, is an important cause of acquired chorea in childhood. The disorder is characterized by chorea, muscular weakness and a number of neuropsychiatric symptoms. The diagnosis of SC is based on clinical observation. There have been no double-blind, randomized studies to evaluate the symptomatic treatment of SC.
Asunto(s)
Corea , Niño , Corea/diagnóstico , Corea/tratamiento farmacológico , Corea/microbiología , HumanosRESUMEN
Sydenham's Chorea (SC), a major manifestation of acute Rheumatic Fever (RF), is a nonsuppurative sequelae of group A streptococcal infection. RF is a significant public health problem in developing countries, and SC continues to afflict large numbers of children throughout the world. Although the incidence of RF is low in industrialized countries, SC does occur. We recently treated two children with SC. Both children showed the typical features of SC, which are choreatic movements, hypotonia and emotional lability. We describe the course of SC in the two children.