[Genetic disease and diagnostic strategies in stillbirth]. / Alteraciones genéticas y estrategias diagnósticas en muerte fetal.

BACKGROUND: Stillbirth occurs in about 1 in 1000 pregnancies. The causes are maternal, fetal, and placental; but in half of the cases, no cause can be determined. Genetic disease, a common cause of stillbirth, is diagnosed in 25-35% of patients with birth defects. OBJECTIVE: Describe birth defects found in stillbirth cases at the Instituto Nacional de Perinatología in a period of 3 years, analyze risk factors in each pregnancy, and propose an adequate approach to effectively reach the proper diagnosis of defined genetic entities related to stillbirth. MATERIAL AND METHODS: All stillbirths cases presenting birth defects and assessed by the Department of Genetics from January 2008 to December 2010 were included in this study. RESULTS: We evaluated 55 stillbirths with birth defects. 31% of them showed multiple defects; 14.5%, single defects; 20%, single gene disorders; 14.5%, chromosomal abnormalities; 9%, disruptive processes; 7%, non-immune fetal hydrops, and 4% twin pregnancy. The karyotype was obtained in all cases from amniocentesis, and in half of them from umbilical cords as well. In 95% of the cases prenatal findings were confirmed through prenatal USG, and necropsy was performed in 74.5% of them. CONCLUSION: Ultrasound, karyotype, autopsy and assessment by a medical geneticist allowed an accurate diagnosis in 81% of cases. Genetic counseling helps reduce parental anxiety and stillbirth from unknown causes.

Acute renal failure induced by carbon tetrachloride in rats with hepatic cirrhosis.

Relationship between cirrhosis and renal dysfunction is not yet fully understood. A model of cirrhosis with acute hepatic and renal damage (RF), produced by CCl4 in rats, with hemodynamic and renal functional alterations, similar to those observed in decompensated cirrhosis (DC) in man, was used to study chemical nephrotoxicity in animals. We performed in male Wistar rats hepatic and renal functional and hemodynamic studies in control, cirrhotic and decompensated cirrhotic (DC) groups. Cirrhosis was induced with carbon tetrachloride by chronic administration. Association between liver and renal functional alterations was detected in rats with decompensated cirrhosis, showing fall in mean arterial pressure and reduction of glomerular filtration rate and filtration fraction. Renal hemodynamics did not change in cirrhotic rats, similarly to what occurs in compensated cirrhotic patients. However, DC rats exhibited increased sodium, glucose and phosphate urinary excretions and decreased ATP in renal cortex. DC animals had severe hypoglycemia. There was an extensive liver fibrosis. Glomeruli had hypercellularity and tubules showed extensive vacuolization in cirrhotic and DC rats. The present study suggests that in this model, damage typical of acute tubular necrosis ensues in cirrhotic rats. We describe functional and morphological damage in liver and kidney in a model of cirrhosis that might predispose to the development of acute renal failure when an individual with hepatic damage is exposed in acute way to chemical toxicants.

Determinación de marcadores celulares por citrometría de flujo como auxiliar en el diagnóstico etiopatogénico de las eritrodermias / flow cytometry for determination of cell markers as an auxilliary method for the diagnosis of erythroderma

La eritodermia es una entidad sindromática para la cual puede ser difícil establecer el diagnóstico etiológico, tanto desde el punto de vista clínico como del histopatológico. Aproximadamente en el 23 por ciento de los pacientes no es posible determinar la causa, denominándose entonces como eritrodermia idiopática. Se ha considerado a ésta como el estadio inicial de una micosis fungoide, ya que aparentemente hasta el 30 por ciento de estos pacientes pueden evolucionar hacia esta entidad. En la piel y sangre de pacientes con micosis fungoide y síndrome de Sézary, respectivamente, se han encontrado niveles elevados de la molécula de adhesión asociada a la función leucocitaria-1 y de las células T cooperadoras. Con el objetivo de medir por citometría de flujo en sangre venosa: célular NK (®natural killer¼), células T cooperadoras, células T citotóxicas, índice célular T cooperadoras/citotóxicas y las moléculas de adhesión asociada a la función leucocitaria alfa y beta en los diferentes grupos etiológicos de eritrodermia, se realizó un estudio tansversal, observacional prospectivo, de casos y controles. Se incluyeron 22 pacientes con diagnóstico clínico de eritrodermia de diferente etiología (dermatosis preexistentes, medicamentos, neoplasias e indiopáticas) además de 12 controles sanos. Se demostró una disminución estadísticamente significativa en las células NK, en todos los grupos problema; elevación también estadísticamente significativa en los linfocitos T cooperadores y en la molécula asociada a la función leucocitaria beta sólo en el grupo de eritrodermia idiopática. Las determinaciones del índice células T cooperadoras/citotóxicas y de la molécula asociada a la función leucocitaria alfa no variaron significativamente en comparación al grupo control. La elevación de células T cooperadoras y de la molécula asociada a la función leucocitaria beta puede representar un marcador de las eitrodermias idiopáticas; grupo de riesgo para el desarrollo de micosis fungoide. Se requiere a futuro de estudios longitudinales para la obsevación del comportamiento de estos marcadores celulares durante la evolución del cuadro eritrodérmico