Importancia de la historia familiar en el cáncer de mama y ovario

Objetivo: Presentar el caso de una paciente, quien acudió para evaluación ginecológica. La misma resultó clínicamente sana pero en su grupo familiar destaca la alta frecuencia de cáncer de mama y de ovario, lo cual indujo a sospechar alto riesgo para el cáncer de mama hereditario (CaMH); a propósito del mismo se revisa esta patología y se resalta la importancia de la historia familiar. Caso clínico: Mujer de 25 años de edad, que acude a la consulta para realizar control ginecológico. Diagnóstico: paciente clínicamente sana, pero con antecedentes familiares, de alta frecuencia de cáncer de mama (CaM) y cáncer de ovario, razón por la cual se procede a investigar al grupo familiar. Se revisan las historias clínicas del archivo del IAHULA y se entrevistan los familiares. Familia no consanguínea, padres sanos, mayores de 70 años sin cáncer, 3 hermanos y 7 hermanas. Cuatro hermanas fallecieron en un periodo de 9 años, en edades comprendidas entre 24 y 35 años: 3 por CaM y 1 por Ca de ovario, tía materna con CaM y abuela paterna con probable Ca de ovario (síndrome ascítico no ictérico) ambas fallecidas en el medio rural. Antecedentes personales de las 4 hermanas fallecidas: menarquia en promedio de 12.3 años, paridad y lactancia 2/4, nulípara 2/4, ninguna obesa, ni hábitos alcohólicos. Al momento del diagnóstico todas en estadios avanzados de cáncer. Tipo histopatológico del CaM: ductal infiltrante poco diferenciado (2/3), lobulillar y medular (2/3); bilateral (1/3); sin determinar receptores de estrógeno, progesterona o andrógenos. Metástasis a cerebro y pulmón (2/3) durante tratamiento. En ovario: cistoadenoma mucinoso, estadio IV, recidiva al año a pesar del tratamiento. Sobrevida de 3 meses a 3 años. A la paciente se le recomendó realizar el estudio genético para poder precisar el riesgo de padecer cáncer de Mama y ovario Hereditario (CaMH) y establecer las medidas de vigilancia. Conclusiones: Se recomienda que ante una paciente con antecedentes familiares de CaM, se investigue a fondo su historia familiar, la cual aún en ausencia de marcadores genéticos, permite sospechar la presencia de un CaMH el cual requiere de un protocolo de prevención y vigilancia diferente al CaM esporádico.

Objective: To present the case of a patient, who went for a gynecological assessment. She was healthy but in his family group stressed a high frequency of breast and ovarian cancer, which led to suspect high risk for hereditary breast cancer (HBCa). This condition is reviewed, highlighting the importance of family history. Case report: A 25 year old woman who consults for a gynecological examination. Healthy patient with a high frequency of breast cancer (BCa) in her family. Not consanguineous family. Healthy parents, 3 brothers and 6 sisters. Four sisters died within a period of 9 years, aged between 24 and 35 years old: 3 from BCa and 1 from ovarian cancer. Maternal aunt with BCa and paternal grandmother with ovarian cancer. Personal history of the 4 deceased sisters: average age of menarche 12.3 years, parity and lactation 2/4, nulliparous 2/4, no obesity, nonalcoholic habits. Initial diagnosis in advanced stages of cancer. Histopathological type of BCa: poorly differentiated (2/3), lobular and medullary (2/3); bilateral 1/3; lung and brain metastases during treatment (2/3). In ovarian: mucinous cystadenoma stage IV, recurrence in one year despite treatment. Survival between 3 months and 3 years. The patient is recommended to perform the genetic study in order to clarify the risk of suffering BCa and surveillance measures. Conclusions: It is recommended in a patient with a family history of BCa, to carry out a thorough investigation of family history, which, even in the absence of genetic markers, allows to suspect the presence of hereditary breast cancer.

Heart rate changes during the Valsalva maneuver in patients with isolated aortic insufficiency

To determine the possible relationship between left ventricular dilatation and heart rate changes provoked by the Valsalva maneuver (Valsava ratio), we studied 9 patients with isolated chronic aortic insufficiency. Left ventricular systolic function was assessed by two dimensional echocardiography and cardiac catheterization. All patients were asymptomatic (functional class I of the New York Heart Association). The left ventricular internal diameters and volumes were significantly increased in all patients. The asymptomatic patients had either normal or slightly depressed ejection fraction (EF>0.40). The Valsalva ratio of these asymptomatic patients showed no significant correlation with the left ventricular volumes or with the left ventricular ejection fraction. In other words, parasympathetic heart rate control, as expressed by the Valsalva ratio, was normal in the asymptomatic patients with left ventricular dilatation and preserved left ventricular ejection fraction. Therefore, left ventricular dilatation may not be the major mechanism responsible for the abnormal parasympathetic heart rate control of patients with acquired heart disease.

Heart rate responses to intravenous serotinin in rats with acute chagasic myocarditis

We administered serotonin to rats with experimentally induced chagasic myocarditis in order to study the Bezold-Jarisch reflex. Sixteen 4-month old Wistar rats were inoculated with 200.000 T. cruzi parasites ("Y"strain). Between days 18 and 21 (acute stage), 8 infected rats and 8 age-matched controls received intravenous serotonin as a bolus injection at the following doses: 0.5, 1.0, 2.0, 4.0, 6.0, 8.0, 10.0, 12,0, and 14.0 mug/kg. Heart rate was recorded before, during and after each dose of serotonin. The remaining 8 infected animals and 8 controls were subjected to the same experimental procedure during the subacute stage, i.e., days 60 to 70 after inoculation. The baseline heart rate of the infected animals studied during the acute stage (327 + 62 beats/min, mean + SD) was higher than that of the controls (248 + 52, P<0.01). The heart rate changes were expressed as percent changes to correct for the higher baseline heart rate of the infected animals. A dose-response curve was constructed for each group of animals. The slope for the acutely infected animals (r = -0.95, b = -3.98) was not different from that for the control animals (r = -0,92, b = -3.50). The infected animals studied during the subacute stage (r = -0.92, b = -4.33) were not different from the age-matched controls (r = -0.87, b = -4.03). These results suggest that the afferent and efferent pathways which mediate the Bezold-Jarisch reflex are functionally preserved in rats with histologically proved chagasic myocarditis.

Niveles diurnos de progesterona en mujeres con ciclos normales / Serum progesterone levels from women with regular cycles

En 20 mujeres sin trastornos menstruales y con evidencia ultrasonográfica de ovulación, se cuantificaron los niveles de progesterona durante la mañana (9:00-11:00) y la tarde (2:00-4:00) de un día correspondiente a las fases lútea temprana, mediana y tardía. Los niveles de progesterona obtenidos en la mañana no fueron estadísticamente diferentes de los valores obtenidos en la tarde en ninguno de los días estudiados. Las fluctuaciones en los niveles de progesterona observadas durante las fases lútea temprana, media y tardía fueron relativamente pequeñas y durante la fase lútea media en ninguna de las mujeres estudiadas se obtuvieron valores de progesterona inferiores a 5 ng/ml. Por lo tanto, concluimos que una sola determinación de progesterona, realizada en la fase lútea media del ciclo y durante el intervalo comprendido entre las 9:00 a.m y las 4:00 p.m, es suficientemente para evaluar adecuadamente la función del cuerpo lúteo