RESUMEN
Thalidomide, mainly used for the treatment of leprosy, is a current teratogen in South America, and it is reasonable to assume that at present this situation is affecting many births in underdeveloped countries. Moreover, the potential re-marketing of thalidomide for the treatment of a large variety of diseases may extend the problem to the developed world. When the drug is available, the control of its intake during early pregnancy is very difficult since most pregnancies are unintended. The ongoing occurrence of thalidomide embryopathy cases went undetected by the ECLAMC, due to several factors: (1) low populational coverage through this monitoring system; (2) pre-existence of the teratogen with its effects present in both baseline (expected) and monitored (observed) materials; and (3) lack of a defined phenotype to be monitored. Thus, if thalidomide re-enters the market throughout the world, due to the wide range of new applications, occurrence of phocomelia alone might not be sufficient to detect its effects. By a case-reference approach, the ECLAMC registered 34 thalidomide embryopathy cases born in South America after 1965 whose birthplaces correspond to endemic areas for leprosy. Phocomelia was found in five of eleven fully described cases. Thus, phocomelia alone is neither specific nor sufficient to serve as a suitable phenotype to survey the teratogenic effects of thalidomide. Therefore, a thalidomide-like phenotype, defined as any bilateral upper and/or lower limb reduction defect of the preaxial and/or phocomelia types, should be included in the routine surveillance of birth defects in all programmes.
Asunto(s)
Anomalías Inducidas por Medicamentos/epidemiología , Leprostáticos/efectos adversos , Lepra/tratamiento farmacológico , Teratógenos/toxicidad , Talidomida/efectos adversos , Femenino , Humanos , Recién Nacido , Masculino , Embarazo , América del Sur/epidemiologíaRESUMEN
Cavernous angioma is a vascular malformation that affect 0.5 to 0.7% of the population making up 8 to 15% of cerebrovascular malformations. It is the second vascular malformation in frequency of the central nervous system, supplanted only by classic arteriovenous malformation. It may occur in two forms: a sporadic form characterized by isolated lesions: and a familial form characterized by multiple lesions with an autosomal dominant mode of inheritance with high penetrance and varied expressivity in the proportion M1:F1. Symptoms related to cavernous angioma are seizures, headache or progressive neurologic deficit. The authors present a Chinese family with familial cavernous angioma. Manifestations of the disease occurred in three generations affecting only females. Clinical, neuroimage, pathological, natural course and genetical aspects of the disease are discussed.
Asunto(s)
Neoplasias Encefálicas/genética , Tronco Encefálico , Hemangioma Cavernoso/genética , Malformaciones Arteriovenosas Intracraneales/genética , Adulto , Neoplasias Encefálicas/diagnóstico , Tronco Encefálico/diagnóstico por imagen , Niño , Femenino , Hemangioma Cavernoso/diagnóstico , Humanos , Malformaciones Arteriovenosas Intracraneales/diagnóstico , Persona de Mediana Edad , Linaje , Neoplasias de la Base del Cráneo/diagnóstico , Neoplasias de la Base del Cráneo/genética , Tomografía Computarizada por Rayos XRESUMEN
Misoprostol, a synthetic analog of prostaglandin, has been widely used in Brazil as an abortifacient. Abortion is illegal in Brazil. An uncertain number of these abortion attempts are unsuccessful and the pregnancy continues. We report on 7 patients whose mothers attempted to abort using this drug in the first trimester of gestation without success. The 7 patients presented with limb defects and in 4 of them a diagnosis of Möbius sequence was made.