Hepatoblastoma en un paciente pediátrico a propósito de un caso

La incidencia de hepatoblastoma alrededor del mundo permanece constante entre 0.5 y 1.5 casos por millón de niños por año. En los Estados Unidos de América se reporta para el hepatoblastoma una incidencia anual de aproximadamente 1 por millón en niños menores de 15 años de edad. En Ecuador, en una investigación realizada en la ciudad de Cuenca, ocupa el séptimo lugar entre los tumores pediátricos. Se trata de un tumor infrecuente, cuya incidencia parece aumentar en los últimos años. Puede aparecer de forma aislada o integrarse en el contexto de un síndrome de predisposición. Presentamos el caso de un paciente pediátrico, femenina, preescolar de 3 años de edad, sin antecedentes perinatales de importancia, producto de la tercera gesta, nacida por cesárea por distocia de presentación a las 39 semanas. Cuenta con esquema de vacunación completo para la edad. Como antecedentes patológicos personales requiere una hospitalización por enfermedad diarreica aguda a los 2 años. Sin antecedentes quirúrgicos, antecedentes patológicos familiares de tía materna con hipotiroidismo. Se realizó exámenes complementarios de sangre y de imagen, los cuales revelaron una masa abdominal dependiente de hígado compatible con hepatoblastoma con niveles de AFP superiores a 1000ng/ml

The incidence of hepatoblastoma around the world remains constant between 0.5 and 1.5 cases per million children per year. In the United States of America, an annual incidence of approximately 1 per million is reported for hepatoblastoma in children under 15 years of age. In Ecuador, in a study carried out in the city of Cuenca, it ranks seventh among pediatric tumors. It is an infrequent tumor, its incidence seems to have increased in recent years. It can appear in isolation or be part of a predisposing syndrome. We present the case of a 3-year-old preschool female pediatric patient with no significant perinatal history, product of a third pregnancy, born by cesarean section due to presentation of dystocia at 39 weeks. She had a complete vaccination for her age. As past medical history, she was hospitalized for acute diarrheal disease at 2 years of age. She had no surgical history, family pathological history except for a maternal aunt with hypothyroidism. Complementary blood and imaging tests were performed, which revealed an abdominal liver-dependent mass, compatible with hepatoblastoma with AFP levels greater than 1000 ng/ml.

Tumor del saco vitelino de testículo en pediatria: presentación de un caso / Yolk sac tumor of the testis in pediatrics: a case report

Los tumores del saco vitelino (TSV) representan los tumores de células germinales (TCG) testiculares malignos más frecuentes en la edad pediátrica. Dicha neoplasia se ha visto vinculados con factores de riesgo tales como criptorquidia, antecedentes familiares, disgenesia gonadal y microlitiasis testicular. En general, se presentan como masas testiculares asintomáticas, por lo que comúnmente los padres o los médicos de atención primaria son los primeros en identificarlas. Los TSV característicamente son productores de alfa feto proteína (AFP), por lo que este se considera el marcador serológico más importante, para el diagnóstico y el seguimiento posterior al tratamiento. El ultrasonido escrotal se considera la herramienta diagnóstica más importante para la caracterización de las masas testiculares por lo general los tumores del saco vitelino se presentan como masas sólidas, hipervasculares. La mayoría de los pacientes se presentan inicialmente con enfermedad estadío I, siendo la orquiectomía radical la única terapia requerida en esta fase. Caso clínico: Niño de 1 año y 11 meses presenta masa de consistencia dura, indolora en el testículo izquierdo identificada por la madre, al ultrasonido testicular muestra masa sólida, homogénea hipervascularizada asociado a adenopatías inguinales y retroperitoneales. El único marcador tumoral elevado fue Alfafetoproteina. Se le realiza orquiectomía izquierda radical con evolución postquirúrgica satisfactoria, se confirma el diagnóstico por anatomía patológica e inmunohistoquímica; Tumor de células germinales, no seminomatoso de saco vitelino prepuberal.

Yolk sac tumors (SVT) represent the most frequent malignant testicular germ cell tumors (GCT) in the pediatric age. This neoplasm has been linked to risk factors such as cryptorchidism, family history, gonadal dysgenesis and testicular microlithiasis. They generally present as asymptomatic testicular masses, so parents or primary care physicians are often the first to identify them. SVT are characteristically producers of alpha feto protein (AFP), which is why this is considered the most important serological marker for diagnosis and follow-up after treatment. Scrotal ultrasound is considered the most important diagnostic tool for characterizing testicular masses. Yolk sac tumors generally present as solid, hypervascular masses. Most patients initially present with stage I disease, with radical orchiectomy being the only therapy required in this phase. Clinical case: A 1-year-oid and 11-month-old boy presented with a hard, painless mass in the left testicle identified by the mother. Testicular ultrasound shows a solid, homogeneous hypervascularized mass associated with inguinal and retroperitoneal lymphadenopathies. The only elevated tumor marker was Alpha-fetoprotein. A radical left orchiectomy was performed with satisfactory post-surgical evolution, the diagnosis was confirmed by pathological anatomy and immunohistochemistry; Nonseminomatous germ cell tumor of the prepubertal yolk sac.

Tumor de las células de la granulosa del adulto / Adult granulosa cell tumor

Resumen ANTECEDENTES: El tumor de células de la granulosa representa del 2 al 5% de las neoplasias del ovario. Su manifestación clínica no siempre es específica. OBJETIVO: Analizar el comportamiento del tumor de las células de la granulosa y aportar experiencia para su tratamiento. CASO CLÍNICO: Paciente de 52 años, con proliferación de células de la granulosa con escaso citoplasma y núcleos ovoides, algunos de ellos con surcos prominentes, con patrón de crecimiento trabecular y difuso. La manifestación inicial fue un episodio de sangrado posmenopáusico que hizo sospechar la patología endometrial. La inmunohistoquímica reportó positividad para inhibina y débilmente positivo para alfa-fetoproteína, negativo para citoqueratinas de amplio espectro, EMA y cromogranina; ki-67: 5-10%. Se indicó histerectomía y doble anexectomía por laparoscopia y omentectomía. Con el diagnóstico de tumor de células de la granulosa estadio IC se indicó tratamiento coadyuvante con quimioterapia, 3 ciclos de bleomicina, etopósido y cisplatino. El seguimiento se efectuó con ecografía y concentraciones de inhibina B, que han permanecido en límites de normalidad en el control periódico. CONCLUSION: El tumor de células de la granulosa es de bajo grado de malignidad y diseminación preferentemente local. Su pronóstico es excelente, aunque debido a su recurrencia, años después del diagnóstico inicial parece razonable prolongar la vigilancia con exámenes físicos y el estudio de marcadores tumorales.

Abstract BACKGROUND: Granulosa cell tumor represents 2 to 5% of ovarian neoplasms. Its clinical manifestation is not always specific. OBJECTIVE: To analyze the behavior of granulosa cell tumor and to provide experience for its treatment. CLINICAL CASE: A 52-year-old patient with granulosa cell proliferation with scant cytoplasm and ovoid nuclei, some of them with prominent grooves, with trabecular and diffuse growth pattern. The initial manifestation was an episode of postmenopausal bleeding that raised suspicion of endometrial pathology. Immunohistochemistry was positive for inhibin and weakly positive for alpha-fetoprotein, negative for broad-spectrum cytokeratins, EMA and chromogranin; ki-67: 5-10%. Hysterectomy and double adnexectomy by laparoscopy and omentectomy were indicated. With the diagnosis of granulosa cell tumor stage IC, adjuvant treatment with chemotherapy was indicated, 3 cycles of bleomycin, etoposide and cisplatin. Follow-up was carried out with ultrasound and inhibin B concentrations, which have remained within normal limits in the periodic control. CONCLUSION: Granulosa cell tumor is of low malignancy grade and preferably local dissemination. Its prognosis is excellent, although due to its recurrence, years after the initial diagnosis it seems reasonable to prolong surveillance with physical examinations and the study of tumor markers.

Evaluation of chemopreventive and chemotherapeutic effect of Artemisia vulgaris extract against diethylnitrosamine induced hepatocellular carcinogenesis in Balb C mice / Avaliação dos efeitos quimiopreventivo e quimioterápico do extrato de Artemisia vulgaris contra carcinogênese hepatocelular induzida por dietilnitrosamina em camundongos Balb C

The main objective of current study was to investigate the chemopreventive and chemotherapeutic activity of Artemisia vulgaris extract on diethylnitrosoamine induced hepatocarcinogenesis in Balb C mice. Diethylnitrosoamine (DEN: 0.9%) was prepared to induce hepatocarcinoma in Balb C mice. The extract Artemisia vulgaris (AV) was prepared by maceration technique. Mice were classified into four groups as follows: Group 1 a control group (N=7) received saline solution (3.5 l/mg), group 2 (N=14) received diethylnitrosoamine (3.5 l/mg) intraperitoneally once in a week for eight consecutive weeks, group 3 (N=7) received only plant extract (AV: 150 mg/kg (Body weight) once in a week, while group 4 (N=7) was given in combination of diethylnitrosoamine (3.5 l/mg) and plant extract (AV: 150 mg/kg (body weight). After eight weeks of DEN administration, mice of group 2 were divided into two subgroups containing seven mice each; subgroup 1 was sacrificed while subgroup 2 was treated with plant extract only (150 mg/kg (body weight)) once in a week for eight consecutive weeks. The DEN injected mice significant decline in levels of albumin with concomitant significant elevations such as aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, alpha feto protein, gamma glutamyl transferase, 5 nucleotidase, glucose-6-phosphate dehydrogenase and bilirubin. The administration of A. vulgaris significantly decreased the DEN induced hepatotoxicity. Present study revealed the potential anti-cancerous nature of Artemisia vulgaris, both in case of chemopreventive and post-treatment of A. vulgaris. Further studies are needed to explore the mechanism of prevention and therapy.

O objetivo principal do presente estudo foi investigar as atividades quimiopreventiva e quimioterápica do extrato de Artemisia vulgaris em hepatocarcinogênese induzida por dietilnitrosoamina (DEN) em camundongos Balb C. Dietilnitrosoamina (DEN: 0,9%) foi preparada para induzir hepatocarcinoma em camundongos da linhagem Balb C. O extrato de A. vulgaris (AV) foi preparado pela técnica de maceração. Os camundongos foram classificados em quatro grupos conforme os seguintes: grupo 1, grupo controle (N=7) recebeu solução salina (3,5 µl/mg); grupo 2 (N=14) recebeu dietilnitrosoamina (3,5 µl/mg) por via intraperitoneal uma vez por semana durante oito semanas consecutivas; grupo 3 (N=7) recebeu apenas o extrato vegetal (AV: 150 mg/kg (peso corporal) uma vez por semana; enquanto no grupo 4 (N=7) foi administrado uma combinação de dietilnitrosoamina (3,5 l/mg) com extrato vegetal (AV: 150 mg/kg (peso corporal). Após oito semanas de administração de DEN, os camundongos do grupo 2 foram divididos em dois subgrupos, contendo sete camundongos cada um; no subgrupo 1, os animais foram sacrificados, enquanto no subgrupo 2, os animais foram tratados apenas com extrato vegetal (150 mg/kg (peso corporal)) uma vez por semana durante oito semanas consecutivas. Os camundongos nos quais foram injetados DEN apresentaram declínio significativo nos níveis de albumina, mas elevações significativas concomitantes de: aspartato aminotransferase, alanina aminotransferase, lactato desidrogenase, alfa-fetoproteína, gama-glutamiltransferase, 5 nucleotidase, glicose-6-fosfato desidrogenase e bilirrubina. A administração de A. vulgaris diminuiu significativamente a hepatotoxicidade induzida pelo DEN. O presente estudo apresentou a potencialidade anticancerosa da A. vulgaris, tanto nos casos de quimioprevenção quanto no pós-tratamento da A. vulgaris. Mais estudos são necessários para explorar o mecanismo de prevenção e a terapia.

Evaluation of chemopreventive and chemotherapeutic effect of Artemisia vulgaris extract against diethylnitrosamine induced hepatocellular carcinogenesis in Balb C mice / Avaliação dos efeitos quimiopreventivo e quimioterápico do extrato de Artemisia vulgaris contra carcinogênese hepatocelular induzida por dietilnitrosamina em camundongos Balb C

Abstract The main objective of current study was to investigate the chemopreventive and chemotherapeutic activity of Artemisia vulgaris extract on diethylnitrosoamine induced hepatocarcinogenesis in Balb C mice. Diethylnitrosoamine (DEN: 0.9%) was prepared to induce hepatocarcinoma in Balb C mice. The extract Artemisia vulgaris (AV) was prepared by maceration technique. Mice were classified into four groups as follows: Group 1 a control group (N=7) received saline solution (3.5 μl/mg), group 2 (N=14) received diethylnitrosoamine (3.5 μl/mg) intraperitoneally once in a week for eight consecutive weeks, group 3 (N=7) received only plant extract (AV: 150 mg/kg (Body weight) once in a week, while group 4 (N=7) was given in combination of diethylnitrosoamine (3.5 μl/mg) and plant extract (AV: 150 mg/kg (body weight). After eight weeks of DEN administration, mice of group 2 were divided into two subgroups containing seven mice each; subgroup 1 was sacrificed while subgroup 2 was treated with plant extract only (150 mg/kg (body weight)) once in a week for eight consecutive weeks. The DEN injected mice significant decline in levels of albumin with concomitant significant elevations such as aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, alpha feto protein, gamma glutamyl transferase, 5 nucleotidase, glucose-6-phosphate dehydrogenase and bilirubin. The administration of A. vulgaris significantly decreased the DEN induced hepatotoxicity. Present study revealed the potential anti-cancerous nature of Artemisia vulgaris, both in case of chemopreventive and post-treatment of A. vulgaris. Further studies are needed to explore the mechanism of prevention and therapy.

Resumo O objetivo principal do presente estudo foi investigar as atividades quimiopreventiva e quimioterápica do extrato de Artemisia vulgaris em hepatocarcinogênese induzida por dietilnitrosoamina (DEN) em camundongos Balb C. Dietilnitrosoamina (DEN: 0,9%) foi preparada para induzir hepatocarcinoma em camundongos da linhagem Balb C. O extrato de A. vulgaris (AV) foi preparado pela técnica de maceração. Os camundongos foram classificados em quatro grupos conforme os seguintes: grupo 1, grupo controle (N=7) recebeu solução salina (3,5 µl/mg); grupo 2 (N=14) recebeu dietilnitrosoamina (3,5 µl/mg) por via intraperitoneal uma vez por semana durante oito semanas consecutivas; grupo 3 (N=7) recebeu apenas o extrato vegetal (AV: 150 mg/kg (peso corporal) uma vez por semana; enquanto no grupo 4 (N=7) foi administrado uma combinação de dietilnitrosoamina (3,5 μl/mg) com extrato vegetal (AV: 150 mg/kg (peso corporal). Após oito semanas de administração de DEN, os camundongos do grupo 2 foram divididos em dois subgrupos, contendo sete camundongos cada um; no subgrupo 1, os animais foram sacrificados, enquanto no subgrupo 2, os animais foram tratados apenas com extrato vegetal (150 mg/kg (peso corporal)) uma vez por semana durante oito semanas consecutivas. Os camundongos nos quais foram injetados DEN apresentaram declínio significativo nos níveis de albumina, mas elevações significativas concomitantes de: aspartato aminotransferase, alanina aminotransferase, lactato desidrogenase, alfa-fetoproteína, gama-glutamiltransferase, 5' nucleotidase, glicose-6-fosfato desidrogenase e bilirrubina. A administração de A. vulgaris diminuiu significativamente a hepatotoxicidade induzida pelo DEN. O presente estudo apresentou a potencialidade anticancerosa da A. vulgaris, tanto nos casos de quimioprevenção quanto no pós-tratamento da A. vulgaris. Mais estudos são necessários para explorar o mecanismo de prevenção e a terapia.

Importancia de la laparoscopia diagnóstica en la detección de implantes tumorales. Reporte de un caso / Importance of diagnostic laparoscopy in the detection of tumor implants. A case report

Resumen ANTECEDENTES: Los tumores malignos de células germinales de ovario constituyen un grupo heterogéneo de neoplasias de rápida evolución a la malignización, que suelen aparecer durante las dos primeras décadas de la vida. La prevalencia en México es de 3.4% de los tumores ováricos. El 10% de las pacientes afectadas padece dolor abdominal agudo por distención capsular, necrosis, hemorragia, rotura o torsión. CASO CLÍNICO: Paciente de 17 años, acudió al servicio de Urgencias por dolor pélvico de inicio súbito. En la laparotomía se encontró una torsión ovárica secundaria a una tumoración anexial derecha; por eso se le efectuó la salpingooferectomía. Se detectó elevada concentración de alfa-fetoproteína (10,702 ng/mL); el servicio de Oncología pediátrica indicó quimioterapia durante dos años; sin embargo, después de suspender el tratamiento persistió elevada su concentración. El ultrasonido y PET-SCAN no evidenciaron enfermedad activa. En la laparoscopia diagnóstica se observaron múltiples implantes tumorales. El reporte histopatológico fue de tumoración de senos endodérmicos. La paciente se envió, nuevamente, a Oncología pediátrica para continuar con quimioterapia y radioterapia. En la actualidad permanece estable, con descenso de la concentración de alfa-fetoproteína (última determinación: 1200 ng/mL). CONCLUSIÓN: La importancia de la laparoscopia toma relevancia en este tipo de casos, cuando existe discordancia entre los estudios bioquímicos y de imagen (ultrasonido y PET-SCAN); además, orienta hacia un diagnóstico más certero, mediante la visualización y obtención de biopsias directas, con la finalidad de establecer el tratamiento específico.

Abstract BACKGROUND: Malignant germ cell tumors of the ovary constitute a heterogeneous group of highly malignant and rapidly progressive neoplasms that usually appear during the first two decades of life. Its frequency in Mexico is 3.4% on ovarian tumors. Approximately 10% of affected patients report acute abdominal pain due to capsular distension, necrosis, hemorrhage, rupture or torsion. CLINICAL CASE: A 17 years-old patient, who went to the Emergency Department for pelvic pain of sudden onset. It was decided to perform a laparotomy and ovarian torsion was found secondary to a right adnexal tumor, so salpingo-ophorectomy was performed. High alpha-fetoprotein concentration (10.702 ng/mL) was detected; the Pediatric Oncology Service indicated chemotherapy for two years; however, after stopping the treatment, its concentration persisted. The ultrasound and PET-SCAN did not show active disease, so it was sent to the gynecological endoscopy service, where they performed diagnostic laparoscopy, observing multiple tumor implants. The histopathological results was endodermal sinus tumor. The patient was sent, again, to Pediatric Oncology to continue with chemotherapy and radiotherapy. It is currently stable, with a decrease in values of alpha-fetoprotein (last determination: 1200 ng/mL). CONCLUSION: The importance of diagnostic laparoscopy is especially relevant in this type of cases when there is disagreement between biochemical and imaging studies (ultrasound and PET-SCAN), which through laparoscopy guides us towards a more accurate diagnosis through visualization and direct biopsy taking sample and give a directed management.

Evaluation of chemopreventive and chemotherapeutic effect of Artemisia vulgaris extract against diethylnitrosamine induced hepatocellular carcinogenesis in Balb C mice

Abstract The main objective of current study was to investigate the chemopreventive and chemotherapeutic activity of Artemisia vulgaris extract on diethylnitrosoamine induced hepatocarcinogenesis in Balb C mice. Diethylnitrosoamine (DEN: 0.9%) was prepared to induce hepatocarcinoma in Balb C mice. The extract Artemisia vulgaris (AV) was prepared by maceration technique. Mice were classified into four groups as follows: Group 1 a control group (N=7) received saline solution (3.5 l/mg), group 2 (N=14) received diethylnitrosoamine (3.5 l/mg) intraperitoneally once in a week for eight consecutive weeks, group 3 (N=7) received only plant extract (AV: 150 mg/kg (Body weight) once in a week, while group 4 (N=7) was given in combination of diethylnitrosoamine (3.5 l/mg) and plant extract (AV: 150 mg/kg (body weight). After eight weeks of DEN administration, mice of group 2 were divided into two subgroups containing seven mice each; subgroup 1 was sacrificed while subgroup 2 was treated with plant extract only (150 mg/kg (body weight)) once in a week for eight consecutive weeks. The DEN injected mice significant decline in levels of albumin with concomitant significant elevations such as aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, alpha feto protein, gamma glutamyl transferase, 5 nucleotidase, glucose-6-phosphate dehydrogenase and bilirubin. The administration of A. vulgaris significantly decreased the DEN induced hepatotoxicity. Present study revealed the potential anti-cancerous nature of Artemisia vulgaris, both in case of chemopreventive and post-treatment of A. vulgaris. Further studies are needed to explore the mechanism of prevention and therapy.

Resumo O objetivo principal do presente estudo foi investigar as atividades quimiopreventiva e quimioterápica do extrato de Artemisia vulgaris em hepatocarcinogênese induzida por dietilnitrosoamina (DEN) em camundongos Balb C. Dietilnitrosoamina (DEN: 0,9%) foi preparada para induzir hepatocarcinoma em camundongos da linhagem Balb C. O extrato de A. vulgaris (AV) foi preparado pela técnica de maceração. Os camundongos foram classificados em quatro grupos conforme os seguintes: grupo 1, grupo controle (N=7) recebeu solução salina (3,5 µl/mg); grupo 2 (N=14) recebeu dietilnitrosoamina (3,5 µl/mg) por via intraperitoneal uma vez por semana durante oito semanas consecutivas; grupo 3 (N=7) recebeu apenas o extrato vegetal (AV: 150 mg/kg (peso corporal) uma vez por semana; enquanto no grupo 4 (N=7) foi administrado uma combinação de dietilnitrosoamina (3,5 l/mg) com extrato vegetal (AV: 150 mg/kg (peso corporal). Após oito semanas de administração de DEN, os camundongos do grupo 2 foram divididos em dois subgrupos, contendo sete camundongos cada um; no subgrupo 1, os animais foram sacrificados, enquanto no subgrupo 2, os animais foram tratados apenas com extrato vegetal (150 mg/kg (peso corporal)) uma vez por semana durante oito semanas consecutivas. Os camundongos nos quais foram injetados DEN apresentaram declínio significativo nos níveis de albumina, mas elevações significativas concomitantes de: aspartato aminotransferase, alanina aminotransferase, lactato desidrogenase, alfa-fetoproteína, gama-glutamiltransferase, 5 nucleotidase, glicose-6-fosfato desidrogenase e bilirrubina. A administração de A. vulgaris diminuiu significativamente a hepatotoxicidade induzida pelo DEN. O presente estudo apresentou a potencialidade anticancerosa da A. vulgaris, tanto nos casos de quimioprevenção quanto no pós-tratamento da A. vulgaris. Mais estudos são necessários para explorar o mecanismo de prevenção e a terapia.

Conglomerados espacio-temporales de defectos del tubo neural y niveles maternos de alfafetoproteína en Villa Clara (2011-2015) / Spatial-time clusters of neural tube defects and maternal alpha fetoprotein levels in Villa Clara province (2011-2015)

Introducción: los defectos del tubo neural se asocian a valores séricos elevados de alfafetoproteína. Objetivo: determinar la prevalencia ajustada de los defectos del tubo neural en la provincia de Villa Clara. Métodos: se realizó un estudio descriptivo retrospectivo donde se incluyeron 43 de los casos nacidos vivos o por interrupción electiva de la gestación por esta causa. Los datos sobre el tipo específico de defecto del tubo neural y los valores séricos de alfafetoproteína materna se obtuvieron del Registro Cubano de Malformaciones Congénitas y del Registro Cubano Prenatal de Malformaciones Congénitas del Centro Provincial de Genética Médica de Villa Clara. Resultados: mediante técnicas de estadística espacial se buscaron conglomerados temporales, espaciales o ambos. Se concluyó que la tasa de prevalencia ajustada fue de 5,47 por cada 1000 recién nacidos. Los niveles séricos de alfafetoproteína resultaron de utilidad para el diagnóstico de los defectos del tubo neural abiertos como la anencefalia. Conclusiones: los hallazgos de conglomerados espaciales y temporales, permitieron identificar los municipios que deben ser objeto de intervención, a través de programas destinados a la identificación y control de posibles factores de riesgo ambientales relacionados con estos defectos congénitos(AU)

Introduction: Neural tube defects are associated to high serum alpha fetoprotein values. Objective: To determine the adjusted prevalence rate of the neural tube defects in Villa Clara province. Methods: A retrospective and descriptive study was conducted in 43 of the infants born alive or from elective cessation of pregnancy because of this problem. Data on specific type of the neural tube defect and the maternal serum alpha fetoprotein values were taken from the Cuban Register of Congenital Malformations and from the Cuban Prenatal Congenital Malformations of the provincial center of medical genetics in Villa Clara province. Results: The spatial statistical techniques allowed finding time, spatial or spatial-time clusters. The adjusted prevalence rate was 5.47 per 1000 newborns. The serum alpha fetoprotein levels observed in the study were useful for the diagnosis of the open neural tube defects such as anencephaly. Conclusions: The spatial and time cluster findings allowed determining those municipalities where intervention is necessary through programs for the detection and control of possible environmental factors related to these congenital defects(AU)

Estructura y función de la alfa-fetoproteína / Structure and function of the alpha-fetoprotein

Resumen: La alfa-fetoproteína es una glicoproteína que ha sido considerada como un marcador oncofetal, cuya aplicación se ha demostrado en el diagnóstico y pronóstico de enfermedades tumorales como el carcinoma hepatocelular, y también es de gran utilidad para identificar malformaciones fetales relacionadas con fallas del cierre del tubo neural y anencefalia. Diversos trabajos establecen una interesante relación entre la estructura y la función de esta proteína que permite regular la respuesta inmune de la madre y que podría participar en los eventos que evitan el rechazo del embrión. En esta revisión se identifican algunos aspectos moleculares de la alfa-fetoproteína que abren interesantes perspectivas para entender mejor su participación en el desarrollo de alteraciones tumorales.

Abstract: Alpha-fetoprotein is a glycoprotein that has been considered an oncofetal marker and demonstrated its application in tumor diagnosis and prognosis of diseases such as hepatocellular carcinoma, is also useful to identify fetal malformations related to failure of neural tube closure and anencephaly. There are several works that make an interesting relationship between the structure and function of this protein that allows it to regulate the immune response of the mother and could participate in events that prevent rejection of the embryo. In this review some molecular aspects of alpha-fetoprotein that open interesting perspectives to better understand their participation in the development of tumor abnormalities are identified.

Diagnóstico ecográfico de un feto con hernia diafragmática / Echographical diagnosis of a fetus with diaphragmatic hernia

Se presenta el caso clínico de una paciente de 25 años de edad con 21 semanas de gestación, remitida al Centro de Genética Municipal de Santiago de Cuba por presentar la alfafetoproteína alterada (G3A1P1). Se le realizó la ecografía indicada, donde se observó imagen ecolúcida a nivel del tórax en forma de masa, ausencia de estómago en el abdomen, polihidramnios y disminución de la circunferencia abdominal; por tanto, se remitió al Centro de Genética Provincial donde fue valorada por un equipo multidisciplinario que confirmó el diagnóstico de hernia diafragmática en el feto y, con el consentimiento de la pareja, se decidió la interrupción del embarazo.

The case report of a 25 years patient with a pregnancy of 21 weeks is presented, referred to the Genetics Municipal Center in Santiago de Cuba for presenting altered alpha-fetoprotein (G3A1P1). The prescribed echography was carried out, in which an echo lucid image was observed at the thorax level similar to a mass, stomach absence in the abdomen, polyhydramnioses and decrease of the abdominal circumference; therefore, she was transferred to the Provincial Center of Genetics where she was evaluated by a multidisciplinary team which confirmed the diagnosis of diaphragmatic hernia in the fetus and, with the couple's consent, the interruption of pregnancy was decided.

Diagnóstico prenatal de tumor de células de la granulosa de tipo juvenil / Prenatal diagnosis of juvenile granulosa cell tumor

Presentamos un caso clínico de diagnóstico prenatal de una masa testicular. Tras el nacimiento, se realizó la exéresis del tumor y el análisis anatomopatológico determinó que se trataba de un tumor de células de la granulosa juvenil. Los tumores testiculares son raros y deben considerarse en el diagnóstico diferencial de las masas escrotales en los neonatos. El tumor de células de la granulosa juvenil es una entidad clínico-patológica poco frecuente, que representa el 5% de los tumores testiculares prepuberales. Se considera una neoplasia benigna y la orquiectomía es una técnica quirúrgica curativa.

We report a case of a prenatally diagnosed testis tumor. After delivery, it was decided to perform right radical orchiectomy which was subsequently diagnosed as a juvenile granulosa cell tumor. Neonatal testicular tumors are rare and should be considered in the differential diagnosis of newborn scrotal masses. Juvenile granulosa cell tumor is a rare benign neoplasm of the testicular stroma that accounts for 5% of all prepuberal testis tumors. As a benign neoplasm, orchiectomy is sufficient for treatment.

Alfa-fetoproteína sérica en la predicción de parto pretérmino / Alpha-fetoprotein levels and prediction of preterm delivery

Objetivo: Relacionar las concentraciones de la alfafetoproteína (AFP) sérica con la ocurrencia de parto pre-término (PP) en embarazadas con y sin factores de riesgo (FR) atendidas en la Maternidad "Dr. Armando Castillo Plaza" en Maracaibo, Estado Zulia, Venezuela. Métodos: Investigación predictiva y comparativa aplicada, que incluyo 60 embarazadas con y sin FR para PP (n= 30 para cada grupo), a las que se les determinó la AFP sérica entre las 24-28 semanas de gestación, siguiéndose hasta la culminación del embarazo. Resultados: Las concentraciones de AFP en gestantes con FR fueron significativamente mayores (341,35 +/- 183,51 vs. 238,63 +/- 110,46; p<0,05); asimismo, el diagnóstico de PP se efectuó en 43,33 por ciento de las gestantes con FR y en 13,33 por ciento sin FR (p<0,05). Esta prueba presentó en gestantes con FR tasas más altas de sensibilidad (77 por ciento), especificidad (76 por ciento), valor predictivo positivo (71 por ciento) o negativo (81 por ciento), predicción total (77 por ciento); razón de verosimilitud positiva (3,27) y probabilidad post-test positiva (71 por ciento); mientras que la razón de verosimilitud negativa (0,30) y la probabilidad post-test negativa (19 por ciento) fueron bajas, en tanto que el riesgo de PP fue significativo (OR [IC95 por ciento%]= 10,833 [1,961-59,835]; p<0,05). Conclusión: Existe una relación entre la elevación de las concentraciones de AFP y la presencia de PP, mostrando esta prueba tener una alta capacidad diagnóstica y poder predictivo para la ocurrencia de esta patología en embarazadas con FR.

Objective: To relate the concentrations of alpha-fetoprotein (AFP) levels with the occurrence of preterm delivery (PP) in pregnant women with and without risk factors (RF) attending Motherhood "Dr. Armando Castillo Plaza" in Maracaibo, Zulia State, Venezuela. Methods: This research is a predictive and comparative type, which included 60 pregnant women with and without RF for PP (n = 30 for each group), which were determined from serum AFP 24-28 weeks of gestation, being followed until completion of pregnancy. Results: The concentrations of AFP in pregnancies with RF were significantly higher (341.35 +/- 183.51 vs. 238.63 +/- 110.46, p<0.05), also the diagnostic PP was performed in 43.33 percent of pregnant women with RF and non RF 13.33 percent (p<0.05). This test presented in RF pregnant with higher rates of sensitivity (77 percent), specificity (76 percent), positive predictive value (71percent or negative (81percent), total prediction (77 percent), positive likelihood ratio (3.27) and positive post-test probability (71 percent), whereas the negative likelihood ratio (0.30) and the post-test probability negative (19 percent) were low, while the risk of PP was significant (OR [95 percent CI] = 10.833 [1.961 to 59.835]; p<0.05). Conclusion: There is a relationship between elevated AFP levels and the presences of PP, showing this test have high diagnostic accuracy and predictive power for the occurrence of this disease in pregnant with RF.

Alfa-fetoproteína y gamma-glutamiltranspeptidasa en pacientes con cirrosis hepática y carcinoma hepatocelular / Alpha-fetoprotein and gamma-glutamyltransferase in patients with liver cirrhosis and hepatocellular carcinoma

Introducción: El carcinoma hepatocelular (CHC) es una complicación de la cirrosis hepática (CH). El objetivo principal del estudio fue describir los niveles de los marcadores serológicos alfa-fetoproteína (AFP) y gamma-glutamiltranspeptidasa (GGT) en pacientes con CH y/o CHC. Métodos: Estudio de corte transversal con 99 pacientes con diagnóstico de CH y/o CHC. Resultados: Un total de 66 (66,7%) pacientes presentaban un diagnóstico de CH, 23 (23,2%) CHC asociado a CH y 10 (10,1%) CHC aislado. Los valores de AFP fueron mayores en individuos con CHC asociado a CH comparados con aquellos que solo tenían CH (20 y 2,93 ng/mL, p<0.05); los niveles de la GGT fueron también mayores en pacientes con CHC asociado a CH (208 y 109 UI/L, p<0,05). Ningún paciente con CHC tuvo en forma simultánea valores normales de AFP y GGT. Conclusiones: En pacientes con CHC asociado a CH los niveles de AFP y GGT son significativamente más altos que individuos con CH aislada.

Introduction: Hepatocellular carcinoma (HCC) is one of the complications associated with liver cirrhosis (LC). The main objective of the present study was to describe the levels of the serological markers alpha-fetoprotein (AFP) and gamma-glutamyltranspeptidase (GGT) in patients with LC and/or HCC. Methods: Cross sectional study that included 99 patients with a diagnosis of LC and/or HCC. Results: 66 (66.7%) patients had a diagnosis of LC, 23 (23.2%) had LC alongside with HCC and 10 (10.1%) had HCC without LC. AFP levels were higher in individuals with HCC associated with LC when compared with those with LC only (20 and 2.93 ng/mL, p <0.05), the levels of GGT were also higher in patients with HCC associated with LC (208 and 109 IU/L, p <0.05). Not a single patient with HCC had normal levels of AFP and GGT simultaneously. Conclusions: In patients with HCC associated with LC levels of AFP and GGT were significantly higher than those found in individuals with LC only.

Ecografía de las malformaciones congénitas del sistema nervioso central / Echography of congenital malformations of the central nervous system

Se realizó un estudio descriptivo y prospectivo de 173 embarazadas atendidas en el Departamento Provincial de Genética Clínica de Santiago de Cuba, desde enero del 2000 hasta diciembre del 2004, para identificar las malformaciones congénitas del sistema nervioso central detectadas mediante la ecografía. La malformación más frecuente fue la hidrocefalia, seguida de los defectos de fusión de la columna vertebral, asociados con la hidrocefalia y la ausencia de cavidad craneana. Hubo predominio de la alfafetoproteína alterada y del líquido amniótico elevado.

A descriptive and prospective study was conducted in 173 pregnant women attended at the Provincial Department of Clinical Genetics of Santiago de Cuba, from January, 2000 to December, 2004, to identify congenital malformations of the central nervous system detected by means of echography. The most frequent malformation was the hydrocephaly, followed by the fusion defects of the spine, associated with the hydrocephaly and the absence of cranial cavity. There was a prevalence of altered alpha fetoprotein and of elevated amniotic fluid.

Capacidad de la alfa-fetoproteína en suero materno como marcador predictivo de parto pretérmino / Capacity of alpha-fetoprotein in maternal serum as a marker predictive of preterm delivery

Determinar el papel de la alfa-fetoproteína como predictora de parto pretérmino. Estudio clínico, de cohorte, no experimental realizado en 170 pacientes, 85 con factores de riesgo de parto pretérmino (grupo estudio), y 85 pacientes sin factores de riesgo de parto pretérmino y sin patología (grupo control). A las pacientes se les tomó una muestra de sangre a las 24 y 28 semanas para evaluar los niveles de alfa-fetoproteína. Servicio de Perinatología, Hospital "Dr. Adolfo Prince Lara", Puerto Cabello. Encontramos una asociación entre el aumento de los valores de alfa-fetoproteína en suero materno y el parto pretérmino. X² = 19,30 P< 0,05, RR = 8 IC 95 por ciento (2,50-25,57), RA = 24,71 IC 95 por ciento (14,36-35,05), sensibilidad = 79,41 por ciento, especificidad = 81,62 por ciento, VPP = 51,92 por ciento, VPN = 94,07 por ciento, prevalencia = 20 por ciento, exactitud = 80,51 por ciento, coeficiente de correlación -0,069. La alfa-fetoproteína tiene capacidad predictiva de parto pretérmino; se recomienda su utilización en el embarazo de riesgo de parto pretérmino

To determine the role of alpha-fetoprotein as predictor or preterm delivery. Clinical, cohort, no experimental study performed in 170 patients, 85 with risk factors for preterm delivery (study group), and 85 patients with no risk factors for preterm delivery and no pathology (control group). A blood sample was taken at 24 and 28 weeks of pregnancy to evaluate alpha-fetoprotein levels. Perinatology Unit, Hospital "Dr. Adolfo Prince Lara", Puerto Cabello. We found an association between the increase of alpha-fetoprotein levels in maternal serum and preterm delivery. X² = 19.30 P< 0.05, RR = 8 IC 95 percent (2.50-25.57), RA = 24.71 IC 95 percent (14.36-35.05), sensibility = 79.41 percent, specificity = 81.62 percent, VPP = 51.92 percent, VPN = 94.07 percent, prevalence = 20 percent, exactness = 80,51 percent, correlation coefficient -0.069. The alpha-fetoprotein has predictive capacity for preterm delivery; we recommend its use in pregnancies with risk of preterm delivery