Congenital toxoplasmosis is an obstetric problem in Mexico, but its actual frequency is unknown. Using a network for screening of non-infectious disorders, we performed a pilot study to determine the frequency of IgM antibodies to Toxoplasma gondii in 1,003 infants (53.1% male, mean +/- SD age = 18.3 +/- 13.0 days, birth weight = 3.116 +/- 0.453 kg) in Mexico City from March to April 2003. Blood samples embedded in filter paper were assayed for IgM antibodies using a capture enzyme-linked immunosorbent assay and results were confirmed by Western blot. Two asymptomatic newborns, one of them premature, had IgM and IgG antibodies in a serum sample taken from both the infant and the mother and were clinically followed. Our data suggest a frequency of approximately two cases of congenital T. gondii infection per 1,000 newborns in Mexico City.
Retinoblastoma (Rb), the most frequent malignant intraocular tumor in childhood, is caused by mutations in the retinoblastoma gene (RB1) situated on chromosome 13q14.2. The incidence of retinoblastoma is approximately 1 in 17,000 live births with approximately 8,000 new cases diagnosed each year worldwide. Rb is the prototypical hereditary cancer in humans. Autosomal dominant inheritance is seen in 30-40% of cases whereas the non-inherited sporadic type accounts for the remaining 60-70%. Rb arises due to inactivation of both alleles of the Rb tumor suppressor gene, which results in a defective Rb protein (pRB) with subsequent cell cycle impairment and uncontrolled cell proliferation. Patients with Rb have survival rates higher than 95-98% in industrialized countries but mortality remains high in developing countries. For example, the mortality rate in Africa is 70%. In all cases of intraocular and extraocular retinoblastoma, there is a need for new therapies that are more effective and carry less risk of toxicity. The Bruckner test is a practical and easy test for the detection of Rb, this test consists of assessing the fundus reflex through the pupil (red reflex) in both eyes simultaneously with a bright coaxial light produced with the direct ophthalmoscope. Rb can be detected by the Bruckner test showing a pupil that shines white or “Leukocoria”. Although the diagnosis of Rb remains essentially clinical, the newly identified biomarkers could contribute to early molecular detection, timely detection of micrometastases and establish new therapeutic options for Rb.
ANTECEDENTES: En México prevalecen cepas “virulentas” de Toxoplasma gondii, por lo que el cuadro clínico puede ser diferente a los reportados para regiones donde circulan cepas no virulentas, como Europa, Estados Unidos y Canadá.MÉTODOS: Se reporta una serie de casos con toxoplasmosis congénita reclutados a partir de 2005 por tamiz prenatal o postnatal, o porque llegaron como casos clínicos al INP, y que conforman parte de una serie de casos.RESULTADOS: Todos los pacientes presentaron manifestaciones clínicas, pero el grupo de tamiz prenatal presentó una infección más localizada y menos grave, principalmente con espasticidad y retraso psicomotor leve. El grupo de tamiz postnatal presentó características clínicas intermedias, con retraso psicomotor leve, moderado o grave, bajo peso al nacimiento, micro o hidrocefalia, ictericia, hepatomegalia, esplenomegalia, calcificaciones intracraneales y espasticidad. Los pacientes más afectados fueron aquellos que se presentaron como casos clínicos, con una amplia variedad de manifestaciones clínicas y el peor pronóstico, incluida la muerte. Seis pacientes presentaron comorbilidades. Veinte casos fueron positivos para dos o más pruebas de laboratorio; el resto sólo para una.CONCLUSIONES. Nuestros resultados apoyan que la toxoplasmosis congénita en México es más grave que en otros países, y que urge implementar tamiz prenatal efectivo, para prevención y profilaxis.PALABRAS CLAVE: complejidad diagnóstica; evaluación prenatal; heterogeneidad clínica; tamiz postnatal; tamiz prenatal; toxoplasmosis congénita; Toxoplasma gondii
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