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Introducción: La malformación congénita es una alteración estructural de un órgano o parte de este, que sucede como consecuencia de una alteración durante la morfogénesis y que puede corresponder a defectos menores o mayores, únicos, múltiples o asilados. Objetivo: Caracterizar clínica y epidemiológicamente los defectos congénitos del tracto genitourinario. Métodos: Se realizó un estudio observacional retrospectivo en 453 fetos con diagnóstico por ecografía bidimensional de defecto congénito del tracto genitourinario. Para ello se tomó en cuenta la edad materna y gestacional al diagnóstico, antecedentes personales y familiares de interés clínico genético y la conducta terapéutica según criterio médico. Los datos fueron procesados mediante el Programa Microsoft Excel 2010, aplicándoles el método porcentual y los resultados expuestos en forma de tablas. Resultados: El 75,27 por ciento de las anomalías se presentaron en gestantes con edad materna entre 20 y 34 años. El 62,6 por ciento de los defectos fueron diagnosticados en el segundo trimestre del embarazo, con predominio del sexo masculino en los fetos estudiados. La pielocaliectacia (27,3 por ciento) resultó la principal causa de evaluación inicial seguida de la hidronefrosis (26,2 por ciento). Hubo correlación entre el diagnóstico definitivo por ultrasonido y el resultado de la necropsia. Los casos en seguimiento no presentaron ninguna complicación y solo en nueve gestantes se registró interrupción anterior por defectos genitourinarios. Conclusiones: Se constató aumento progresivo del diagnóstico de anomalías congénitas del tracto genitourinario por años de estudio, las pielocaliectacias bilaterales resultaron la principal causa de evaluación inicial(AU)

Introduction: A congenital malformation is a structural alteration of an organ or part of it, which happens as a consequence of an alteration during morphogenesis and may correspond to minor or major, unique, multiple or isolated defects. Objective: To characterize, clinically and epidemiologically, the congenital defects of the genitourinary tract. Methods: A retrospective observational study was carried out in 453 fetuses diagnosed with a congenital defect of the genitourinary tract by using two-dimensional ultrasound. For this, we considered the maternal and gestational ages at diagnosis, personal and family history of clinical genetic interest, and therapeutic behavior according to medical criteria. The data was processed using the program Microsoft Excel 2010, applying the percentage method and the results presented in tables. Results: 75.27 percent of the anomalies occurred in pregnant women with maternal ages between 20 and 34 years. 62.6 percent of the defects were diagnosed at second trimester of pregnancy, with a predominance of the male sex in the studied fetuses. Pyelocaliectasis (27.3 percent) was the main cause of initial evaluation, followed by hydronephrosis (26.2 percent). There was a correlation between the definitive ultrasound diagnosis and the outcome of the autopsy. The follow-up cases did not present any complications and only nine pregnant women presented a previous interruption due to genitourinary defects. Conclusions: A progressive increase in the diagnosis of congenital anomalies of the genitourinary tract was verified for years of study. Bilateral pyelocaliectasis was the main cause of initial evaluation(AU)

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Trypanosoma cruzi, the agent of American trypanosomiasis is unable to synthesize sialic acid (SA). Instead of using the corresponding nucleotide sugar as donor of the monosaccharide, the transfer occurs from alpha-2,3-linked SA in the host sialoglycoconjugates to terminal beta-galactopyranosyl units of the parasite mucins. For that purpose, T. cruzi expresses a glycosylphosphatidylinositol-anchored trans-sialidase (TcTS) that is shed into the milieu, being detected in the blood during the acute phase of the infection. The essential role of TcTS in infection and the absence of a similar activity in mammals make this enzyme an attractive target for the development of alternative chemotherapies. However, there is no effective inhibitor toward this enzyme. In vitro, 3'-sialyllactose (SL) as donor and radioactive lactose as acceptor substrate are widely used to measure TcTS activity. The radioactive sialylated product is then isolated by anion exchange chromatography and measured. Here we describe a new nonradioactive assay using SL or fetuin as donor and benzyl beta-d-Fuc-(1-->6)-alpha-d-GlcNAc (1) as acceptor. Disaccharide 1 was easily synthesized by regioselective glycosylation of benzyl alpha-d-GlcNAc with tetra-O-benzoyl-d-fucose followed by debenzoylation. Compound 1 lacks the hydroxyl group at C-6 of the acceptor galactose and therefore is not a substrate for galactose oxidase. Our method relies on the specific quantification of terminal galactose produced by trans-sialylation from the donor to the 6-deoxy-galactose (D-Fuc) unit of 1 by a spectrophotometric galactose oxidase assay. This method may also discriminate sialidase and trans-sialylation activities by running the assay in the absence of acceptor 1.

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This study was aimed to obtain additional information on the activity of a cyclized 9-amino acid peptide (cP) containing the active site of alpha fetoprotein, which inhibits the estrogen-stimulated proliferation of tumor cells in culture and of xenografts in immunodeficient mice. Breast cancer cells cultured in the presence of 2 nM estradiol were exposed to cP for different periods and their proliferation, estradiol binding parameters, clustering tendency and expression of E-cadherin and p21Cip1 were analyzed by biochemical and cell biology methods. The proliferation of MCF7 cells was significantly decreased by the addition of 2 microg/ml cP to the medium. cP did not increase cell death rate nor alter the number of binding sites for estradiol nor the endogenous aromatase activity of MCF7 cells. cP also decreased the proliferation of estrogen-dependent ZR75-1 cells but had no effect on estrogen-independent MDA-MB-231 cells. An increased nuclear p21Cip1 expression detected after cP treatment suggests that cP slows MCF7 cell proliferation via this regulator. We propose that cP could represent a novel breast cancer therapeutic agent whose mechanism of action is different from that of tamoxifen or of inhibitors of aromatase.

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