A Polygenic Risk Score for Breast Cancer in US Latinas and Latin American Women.

BACKGROUND: More than 180 single nucleotide polymorphisms (SNPs) associated with breast cancer susceptibility have been identified; these SNPs can be combined into polygenic risk scores (PRS) to predict breast cancer risk. Because most SNPs were identified in predominantly European populations, little is known about the performance of PRS in non-Europeans. We tested the performance of a 180-SNP PRS in Latinas, a large ethnic group with variable levels of Indigenous American, European, and African ancestry. METHODS: We conducted a pooled case-control analysis of US Latinas and Latin American women (4658 cases and 7622 controls). We constructed a 180-SNP PRS consisting of SNPs associated with breast cancer risk (P < 5 × 10-8). We evaluated the association between the PRS and breast cancer risk using multivariable logistic regression, and assessed discrimination using an area under the receiver operating characteristic curve. We also assessed PRS performance across quartiles of Indigenous American genetic ancestry. All statistical tests were two-sided. RESULTS: Of 180 SNPs tested, 142 showed directionally consistent associations compared with European populations, and 39 were nominally statistically significant (P < .05). The PRS was associated with breast cancer risk, with an odds ratio per SD increment of 1.58 (95% confidence interval [CI = 1.52 to 1.64) and an area under the receiver operating characteristic curve of 0.63 (95% CI = 0.62 to 0.64). The discrimination of the PRS was similar between the top and bottom quartiles of Indigenous American ancestry. CONCLUSIONS: The 180-SNP PRS predicts breast cancer risk in Latinas, with similar performance as reported for Europeans. The performance of the PRS did not vary substantially according to Indigenous American ancestry.

[Immediate response team. 59 cases with obstetric hemorrhage]. / Equipo de respuesta inmediata, análisis de 59 casos con hemorragia obstétrica.

BACKGROUND: The lack of diagnosis as well as an appropriate medical and/or surgical treatment, due to an inefficient work team, contributes to the mortality associated to obstetric hemorrhage. The aim of this article is to analyze 59 cases in which the immediate response team (ERI) was implemented in patient with obstetric hemorrhage. METHODS: Retrospective/prospective, observational, traverse and descriptive study in which 59 cases with obstetric hemorrhage and their attention by means of ERI. RESULTS: 59 patients with the diagnosis of obstetric hemorrhage were studied. The mean age of patients was 30.2 ± 6.8 years. The main reason that originated the obstetric hemorrhage, was abruption placenta followed by uterine atony. The place in which where the ERI was more frequently implemented was the expulsion room and in 93.2 % of the cases the doctor was who begin it. In 71.2 % it was not necessary to transfuse globular package. Only one surgery was carried out in 52.5 % of the cases and two in 28.8 %. The 90.1 % of women didn't pass to intensive care unit, 8.5 % went in, and 1.7 % was transferred. CONCLUSIONS: According to the results obtained in this study the application of ERI was in a correct, integrated and standardized way.

Introducción: la falta de diagnóstico como de tratamiento médico y/o quirúrgico adecuado debido a un equipo ineficiente de trabajo contribuye a la mortalidad asociada a hemorragia obstétrica. El objetivo fue analizar 59 casos en los que se implementó el equipo de respuesta inmediata (ERI) en pacientes con hemorragia obstétrica. Métodos: estudio retrospectivo/prospectivo, observacional, transversal. Se analizaron 59 casos con hemorragia obstétrica y su atención por medio del ERI. Resultados: se captaron 59 pacientes con diagnóstico de hemorragia obstétrica. La media de la edad de las pacientes fue 30.2 ± 6.8 años. El motivo principal que originó la hemorragia obstétrica fue el desprendimiento prematuro de placenta normoinserta seguido por la atonía uterina. El sitio donde más frecuentemente se implementó el ERI fue la sala de expulsión y en 93.2 % de los casos el médico fue quien inicio el ERI. En 71.2 % no fue necesario transfundir paquete globular. Se realizó una cirugía en el 52.5 % de los casos y dos en 28.8 %. El 90.1 % de las mujeres no pasaron a la unidad de cuidados intensivos, 8.5 % ingresó a UCIA y 1.7 % se trasladó. Conclusiones: De acuerdo a los resultados obtenidos en este estudio, la aplicación del ERI fue de forma correcta, integrada y uniforme.

[Variability of the menstrual cycle in Mexican women according to the weight and the distribution of the adipose fabric]. / Variabilidad del ciclo menstrual en mujeres mexicanas según el peso y la distribución del tejido adiposo.

BACKGROUND: Menstrual cycle characteristics have been studied throughout the world in several populations. OBJECTIVE: To analyze the frequency of occurrence of menstruation, duration and volume loss during it and its relationship with age, weight and body fat distribution in Mexican women. MATERIAL AND METHODS: prospective, cross-sectional and descriptive study conduced in women which accompanied patients to hospital consultation, with menstrual cycles considered normal by them, age was documented; body mass index (BMI) and waist hip ratio (WHR) were calculated. They were questioned about: periodicity of the cycle, duration, number and type of pads used per day, and the quantity of menstrual bleeding was calculated. STATISTICAL ANALYSIS: Central tendency and dispersion measurements, as well as percentages were calculated. For the comparison between the groups ANOVA was used and Pearson correlation analysis was done. RESULTS: 161 women were studied. Average age was 23.9 +/- 6.1 years, BMI 26.1 +/- 4.3 and WHR 0.9 +/- 0.1. The cycle periodicity was 29.3 +/- 3.1 days, being 86.4% between 28 and 30 days. The periodicity of menstrual bleeding was affected neither by age nor by BMI and WHR. Bleeding duration was 4.9 +/- 1.6 days, and the most common was from 4-7 days, only in those older than 35 years was from 1-3 days. The calculated average volume was 151.5 +/- 81.0 mL. In those with BMI < 20 loses were between 81and 120 ml, and in those with BMI > 35 from 121-160 ml; 85.5% of women with WHR < or = 0.85 had loses between 81 and 160 ml and 39.3% of those with WHR > 0.85. CONCLUSION: BMI greater than 35 is associated with more abundant bleeding, and android distribution of body fat with smaller bleeding.

Restoration of endocrine function and fertility with orthotopic tubal-ovarian allotransplant as the anatomical-functional unit in rabbits.

The aim of this study was to re-establish endocrine and reproductive function in tubal-ovariectomized rabbits using orthotopic tubal-ovary allotransplants (OT-OA). Fifty-five New Zealand White nonconsanguineous rabbits were used and allocated into five experimental groups: Each group comprised donors submitted to right salpingo-oophorectomy that served as the donated allograft. In group 1 no cyclosporin (CsA) was administered and rabbits were submitted to left salpingo-oophorectomy (LSO). Group 2 was the allotransplant group and did not receive CsA. Group 3 was the allotransplant group with CsA. They were submitted to bilateral salpingo-oophorectomy followed by OT-OA. CsA of 10 mg/kg/day was administered to rabbits for the first 21 days and 5 mg/kg/day for the remainder of the study. Group 4 received CsA just as for group 3 and was submitted to LSO. During the study the following were measured: estradiol (E2), progesterone (P4), follicle-stimulating hormone (FSH), luteinizing hormone (LH), and histopathological study of the uteri, tubes, and ovaries. Groups 1, 3, and 4 showed a significant increase in serum E2 and P4 levels corresponding to the second week of gestation, compared to group 2 (p < .05). Group 2 showed a significant increase in serum LH and FSH levels during week 10 compared to serum LH and FSH levels in groups 1, 3, and 4 (p < .05). In group 3, three rabbits did not reject the allotransplant, one rabbit became pregnant, and endocrine function was re-established in two rabbits. It can be concluded that OT-OA together with CsA administration re-establishes endocrine function and fertility.

[Incidence of endometriosis in infertile women: clinical and laparoscopic characteristics]. / Incidencia de la endometriosis en mujeres con infertilidad: características clínicas y laparoscópicas.

BACKGROUND: The incidence and symptomatology of endometriosis vary according to the different populations. OBJECTIVES: To determine the incidence of endometriosis as well as the clinical and laparoscopic characteristics in infertile women with endometriosis. PATIENTS AND METHODS: This study included 68 infertile patients with endometriosis diagnosed by laparoscopy; in all of them we analyzed the demographic and clinical characteristics. RESULTS: In 68 out of 197 medical files that were analyzed, endometriosis was reported (34.5%). The average age was 30.3 +/- 3.9 years. Forty patients had primary infertility (58.8%) and 28 (41.29%) secondary infertility. In 34 patients endometriosis (50%) was mild, moderate in 16 (23.5%) and severe in 18 (26.5%). Only one endometriosic foci was found in 25% of the patients and multiple foci in 75% of them. The most common sites in which it was found were the uterosacral ligaments, Douglas pouch and the ovaries. In patients with primary infertility it predominated the medium-high socioeconomic level and in those with secondary infertility the low one. In severe endometriosis the predominant symptom was the moderate or severe dysmenorrhea, while in mild and moderate endometriosis was mild dysmenorrhea (p < 0.007). Six out of 16 patients with severe endometriosis had endometrioma. CONCLUSIONS: The endometriosis incidence in infertile women was similar to that reported in literature, as well as age of presentation. It was also observed a direct relationship between endometriosis severity and dysmenorrhea intensity.

[Usefulness of fetal biophysical profile in preterm rupture of membranes with treatment]. / Utilidad del perfil biofísico fetal en la rotura prematura de membranas pretérmino con tratamiento.

OBJECTIVE: To evaluate the usefulness of the fetal biophysical profile as a predictor of early neonatal infection in patients with preterm rupture of membranes in conservative management. PATIENTS AND METHODS: This is a validation study of a diagnostic test. Between November, 2001 and August, 2003, 75 patients with 27 to 33 weeks of gestation and preterm rupture of membranes in conservative management were studied. Daily, a fetal biophysical profile was applied to them. Statistical analysis was done with chi square test and with a 2 x 2 contingency table that compared the biophysical score of + 8 and < or = 6 versus the presence or absence of early neonatal infection. RESULTS: The biophysical score < or = 6 was associated with early neonatal infection (p < 0.05), with sensitivity, specificity, positive and negative predictive values of 80, 85, 64 and 85%, respectively (OR 9.73, 95% CI: 2.88-34.63; p = 0.0000164). CONCLUSIONS: The biophysical score < or = 6 was significantly associated with early neonatal infection.

[Modification of C3 and C4 levels after the administration of conjugated estrogens plus medroxiprogesterone or raloxifene in postmenopausal women]. / Modificación de las concentraciones de C3 y C4 luego de la administración de estrógenos conjugados más medroxiprogesterona o raloxifeno en mujeres posmenopáusicas.

OBJECTIVE: To evaluate the effect of conjugated equine estrogens (CEE) plus medroxyprogesterone acetate (MPA) and raloxifene on serum levels of complement C3 and C4 fractions in postmenopausal women. PATIENTS AND METHOD: Twenty healthy postmenopausal women were studied. In all weight, height and body mass index (BMI) were documented. FSH and estradiol levels were measured. They were randomly divided into two groups, according to the treatment they received: group I, CEE 0.625 mg/day plus MPA 2.5 mg/day (n = 7); group II, raloxifene 60 mg/day (n = 13), both treatments were continuous. Serum levels of C3 and C4 complement fractions were measured by immunonephelometry at baseline and six months after start of treatment. Differences among groups of baseline and final C3 and C4 levels were measured with Student's t test for independent and paired samples, respectively. RESULTS: There were no differences among groups in age, weight, height and body mass index, neither in C3 and C4 levels among baseline and final levels when comparing each group separately. CONCLUSIONS: Complement may not intervene significantly in the atherosclerotic inflammatory process in women receiving CEE plus MPA or raloxifene.

Congenital absence of the breasts: a case report.

Congenital absence of the breasts is an extremely uncommon condition that has been reported associated with some syndromes. The current case was not associated with any known syndrome. This is the first report of congenital absence of the breasts associated with a cardiovertebral alteration and absence of axillary hair.

Estudio comparativo entre la combinación valerianato de estradiol-acetato de ciproterona y estrógenos conjugados equinos-acetato de medroxiprogesterona como terapia hormonal de reemplazo en el climaterio / Comparative study between estradiol valerate-cyproterone and conjugated equine estrogens-medroxyprogesterone acetate as hormone replacement therapy

Objetivo. Comparar la efectividad en el control de la sintomatología climatérica, la tolerabilidad y el patrón de sangrado entre dos tipos de terapia hormonal de reemplazo. Material y métodos. Se estudiaron 81 mujeres posmenopáusicas entre 40 y 60 años de edad con sintomatología vasomotora. Aleatoriamente se les administró: I. Estrógenos conjugados (EC) y Acetato de medroxiprogesterona (MPA): 21 tabletas que contenían 0.625 mg de EC y 10 tabletas con 5 mg de MPA que tomaron junto con las últimas diez tabletas de EC en cada ciclo (n=37). II. Valerianato de estradiol (E2V) y Acetato de ciproterona (CPA): 11 tabletas que contenían 2 mg de E2V y 10 tabletas que contenían 2 mg de E2V y 1 mg de CPA (n=44). Cada ciclo de tratamiento comprendió 28 días. Los tratamientos se compararon mediante Chi cuadrada y prueba U de Mann-Whitney. Resultados. La presencia de los bochornos fue significativamente mayor en el grupo con EC-MPA (p < 0.03). Las palpitaciones severas al final del estudio, tuvieron una tendencia a ser más frecuentes en el grupo con EC-MPA (p < 0.06). Al final del estudio hubo mayor frecuencia de tensión mamaria en el grupo con EC-MPA (P=0.009). Conclusiones. Ambos tratamientos tienen buena efectividad, tolerabilidad y mismo patrón de sangrado. Sólo la frecuencia de bochornos, la presencia de palpitaciones severas y la tensión mamaria fueron menores en el grupo con E2V-CPA, lo que hace de esta preparación una opción que puede tener mejor aceptación por la mujer.

La distribución del tejido adiposos y los niveles séricos de insulina en la mujer obesa que desarrolla diabetes mellitus gestacional / The distribution of adipuse tissue and serum levels of insuline in the obese woman who develops gestational diabetes mellitus

La obesidad se ha considerado uno de los principales factores de riesgo para desarrollar diabetes mellitus gestacional (DMG). El objetivo de este trabajo fue comparar la distribución del tejido adiposo y los niveles séricos de insulina en pacientes obesas que desarrollaron DMG con respecto a obesas que no la presentaron. Se estudiaron 20 pacientes obesas durante el embarazo (24-28 semanas) y el posparto (6 semanas) para evaluar la existencia de DMG mediante una prueba de tolerancia a la glucosa por vía oral (PTGO) obteniéndose muestras sanguíneas a los 0, 60, 120 y 180 minutos. A partir de esos resultados las pacientes se asignaron a dos grupos (n=10), el primero incluyó a quienes desarrollaron DMG y el otro grupo a las que no la presentaron. Las muestras se centrifugaron y en una alícuota de suero se determinó la concentración de glucosa mediante la técnica de glucosa-oxídasa y la parte restante se congeló a -20ºC hasta la determinación de insulina mediante radioinmunoanálisis. Se determinó durante el embarazó el índice subescapular/triciptial (IST) y en el posparto el IST y el índice cintura/cadera (ICC), con el fin de determinar la distribución del tejido adiposo en cada uno de los grupos. Se encontró que todas las pacientes que desarrollaron DMG tuvieron distribución del tejido adiposo en el segmento superior, mientras que de las pacientes que no presentaron DMG, seis tuvieron distribución superior y cuatro inferior (p<0.047). Los niveles séricos de insulina durante el embarazo de las pacientes con DMG fueron significativamente mayores (p<0.01) que los de las obesas sin DMG. El IST durante el embarazo correlacionó signficativamente con el mismo índice en el posparto (9r=0.77, p<0.00003), así cmomo con el ICC (r=0.61, p<0.0001). También el IST durante el posparto correlacionó significativamente con el ICC (r=0.53, p<0.0007). En lo referente a: raza, edad, multiparidad, estrato socioeconómico, antecedentes hereditarios de diabetes mellitus no dependiente de insulina y porcentaje de obesidad dentro y fuera del embarazo, no se encontraron diferencias estadísticamente significativas entre los dos grupos. En conclusión la distribución del tejido adiposo durante el embarazo y el posparto es de características similares en cada paciente y la localización del tejido adiposo en el segmento superior es una característica asociada al desarrollo de DMG

Correlación de los hallazgos histopatológicos con las variables ultrasonográficas del endometrio conforme al peso corporal y distribución del tejido adiposo en la posmenopausia / Correlation of histopathologic findings with ultrasonographic variables of endometrium in relation with body weight and adipose tissue distribution in postmenopause

El objetivo de este trabajo fue correlacionar los hallazgos histopatologícos y las variables ultrasonográficas del endometrio en relación al peso corporal y distribución del tejido adiposo, en dos grupos de mujeres: uno con sangrado uterino posmenopáusico y otro bajo terapia hormonal de reemplazo (THR). fueron estudiadas 31 mujeres posmenopáusicas divididas en dos grupos: I. mujeres con sangrado uterino posmenopáusico (n= 19) y II. mujeres con THR (estrógenos conjugados y clormadinona) (n= 12). En ambos grupos se realizó el mismo día ultrasonido transvaginal previo a la biopsia de endometrio (BE). La BE se tomó en el grupo I el día que acudieron a consulta refiriendo sangrado y en el grupo II en el día 21 del ciclo de THR. Se observó que en el grupo I existió correlación significativa entre el peso corporal y los hallazgos histológicos y entre la refringencia del endometrio y los hallazgos histológicos. En el grupo II hubo correlación significativa entre la distribución de tejido adiposo y la refringencia del endometrio y entre el espesor endometrial y los hallazgos histológicos. Por lo que se puede concluir que en la mujer con sangrado posmenopáusico el peso corporal influye sobre los hallazgos histológicos y la refringencia está en relación del hallazgo histológico, mientras que en aquellas con THR es más importante la distribución del tejido adiposo sobre la refringencia del endometrio y el espesor endometrial tiene relación con los hallazgos histológicos.

Determinación de los niveles de gastrina en suero materno, neonatal y líquido amniótico en el sufrimiento fetal agudo / Gastrin levels determination in maternal, neonatal sera and amniotic fluid in acute fetal distress

Se compararon los niveles de gastrina (G) en el suero materno, neonatal y líquido amniótico en 15 pacientes que presentaron sufrimiento fetal agudo (SFA), teniendo como testigos a 10 pacientes con embarazo normal. Los niveles de G del Líquido amniótico de las pacientes con SFA fueron significativamente mayores (p<0.0001) que los del grupo testigo. Asimismo, se apreciaron diferencias entre ambos grupos en los coeficientes de G en suero materno/líquido amniótico (p < 0.01) y suero neonatal/líquido amniótico (p < 0.01). Se concluye que la G podría ser un auxiliar en el diagnóstico del SFA y el líquido amniótico el sustrato adecuado para su obtención mediante la utilización de la amniocentesis, requiriéndose estudios posteriores para ampliar el número de casos y poder precisar la sensibilidad y especifícidad de esta prueba.