Genetic variants of PON1, GSTM1, GSTT1, and locus 9p21.3, and the risk for premature coronary artery disease in Yucatan, Mexico.

OBJECTIVE: Genetic variants of PON1, rs70587, rs662, rs854560, GSTM1, and GSTT1 and two single nucleotide polymorphisms (SNP) at 9p21.3 locus, rs1333049, and rs2383207; were evaluated in association with the risk for premature coronary artery disease (CAD) in a population of Yucatan, Mexico. These genes are involved in the inactivation of pro-oxidants and pro-inflammatory mediators, lipid and xenobiotic metabolism, detoxification of reactive oxygen species, and regulation of cellular proliferation playing key roles in the pathogenesis of atherosclerosis. METHODS: We conducted a matched case-control study with 98 CAD cases and 101 healthy controls. Genotyping of PON1 and 9p21.2 SNP was performed by real time-PCR and for GSTM1 and GSTT1 with multiplex-PCR. Odds ratios (OR) were calculated to estimate association and generalized multifactor dimensionality reduction (GMDR) algorithm to identify gene-gene and gene-environment interactions. RESULTS: The distribution of all allele/genotype frequencies in controls was within Hardy-Weinberg expectations (p > .05) except for GSTM1. The allele/genotype frequencies of the GSTT1 null were significantly higher in CAD cases than in controls, suggesting association with higher risk for developing CAD. The other SNPs did not show any significant independent association with premature CAD. GMDR revealed a significant interaction between GSTT1 and LL55 genotype. Likewise, the body mass index (BMI) and smoking also showed an interaction with GSTT1. CONCLUSION: The GSTT1 null allele/genotype is associated with an increased risk of developing premature CAD, the effect of which is not modified by cardiovascular risk factors in the population of Yucatan.

La Universidad y su papel en la crisis civilizatoria / The University and Its Role in the Civilizational Crisis

Resumen Hemos de resignificar el papel de la Universidad hoy ante esta profunda crisis civilizatoria; el punto de partida será lograr un acuerdo común para rescatarla y jamás permitir que sea ella una correa de transmisión de un modelo económico, político y social negador del sujeto, despojador y colonial; por el contrario, potenciarla como eje de las transformaciones esenciales que hoy la vida y los seres humanos necesitamos.

Abstract We must re-signify the role of the University today in the face of this profound civilizational crisis. The starting point will be to reach a common agreement in order to rescue it and never allow it to be a transmission belt of an economic, political, and social model, a denier of the subject, stripper and colonial. On the contrary, to enhance it as the axis of the essential transformations that today life and human beings need.

Análisis de epistasia de polimorfismos de genes metabólicos asociados a cardiopatía isquémica en Yucatán / Epistasis analysis of metabolic genes polymorphisms associated with ischemic heart disease in Yucatan

Objetivo: La epistasia es un tipo de interacción genética que podría explicar gran parte de la variabilidad fenotípica que muestran las enfermedades complejas. En este trabajo se determinó el efecto de la epistasia de genes metabólicos y los factores de riesgo cardiovascular en la susceptibilidad al desarrollo de cardiopatía isquémica en Yucatán. Métodos: Estudio de casos y controles en 79 pacientes yucatecos con cardiopatía isquémica y 101 controles sanos pareados por edad y origen con los casos. Se genotipificaron los polimorfismos -108CT, Q192R, L55M (paraoxonasa 1, PON1), C677T, A1298C (5,10 metilentetrahidrofolato reductasa, MTHFR) y la presencia/ausencia del gen glutatión S-transferasa T1 (GSTT1). El análisis de epistasia se realizó con el método de reducción dimensional multifactorial (MDR). El mejor modelo de predicción de riesgo se seleccionó con base en la precisión (%), la significación estadística (p < 0,05) y la consistencia de la validación cruzada. Resultados: Se encontró asociación independiente del genotipo nulo GSTT1*0/0 (OR = 3,39; IC: 1,29-8,87; p = 0,017) y el alelo nulo (OR = 1,86; IC: 1,19-2,91; p = 0,007) con la cardiopatía isquémica. La deleción GSTT1*0 y el genotipo 677TT (MTHFR) se identificaron de alto riesgo cardiovascular, mientras que el genotipo silvestre GSTT1*1 y la variante CC677 se clasificaron de bajo riesgo. La interacción gen-ambiente identificó al gen GSTT1, al polimorfismo C677T (MTHFR) y a la hipertensión arterial como los factores que mejor explican la cardiopatía isquémica en la población estudiada. Conclusiones: La interacción de los genes GSTT1 y MTHFR conjuntamente con la hipertensión arterial puede constituir un modelo de predicción de riesgo para el inicio temprano de cardiopatía isquémica en la población de Yucatán

Objective: Epistasis is a type of genetic interaction that could explain much of the phenotypic variability of complex diseases. In this work, the effect of epistasis of metabolic genes and cardiovascular risk on the susceptibility to the development of ischemic heart disease in Yucatan was determined. Methods: Case-control study in 79 Yucatecan patients with ischemic heart disease and 101 healthy controls matched by age and origin with cases. The polymorphisms -108CT, Q192R, L55M (paraoxonase 1; PON1), C677T, A1298C (methylenetetrahydrofolate reductase; MTHFR), and the presence/absence of the glutathione S-transferase T1 (GSTT1) gene were genotyped. Epistasis analysis was performed using the multifactorial dimensional reduction method. The best risk prediction model was selected based on precision (%), statistical significance (P<0.05), and cross-validation consistency. Results: We found an independent association of the null genotype GSTT1*0/0 (OR=3.39, CI: 1.29-8.87, P=0.017) and the null allele (OR=1.86, CI: 1.19-2.91, P=0.007) with ischemic heart disease. The GSTT1*0 deletion and the 677TT genotype (MTHFR) were identified as being at a high cardiovascular risk, whereas the GSTT1*1 wild type genotype and the CC677 variant were at low risk. The gene-environment interaction identified the GSTT1 gene, C677T polymorphism (MTHFR), and hypertension as the factors that best explain ischemic heart disease in the study population. Conclusions: The interaction of the MTHFR, GSTT1 and hypertension may constitute a predictive model of risk for early onset ischemic heart disease in the population of Yucatan

Epistasis analysis of metabolic genes polymorphisms associated with ischemic heart disease in Yucatan. / Análisis de epistasia de polimorfismos de genes metabólicos asociados a cardiopatía isquémica en Yucatán.

OBJECTIVE: Epistasis is a type of genetic interaction that could explain much of the phenotypic variability of complex diseases. In this work, the effect of epistasis of metabolic genes and cardiovascular risk on the susceptibility to the development of ischemic heart disease in Yucatan was determined. METHODS: Case-control study in 79 Yucatecan patients with ischemic heart disease and 101 healthy controls matched by age and origin with cases. The polymorphisms -108CT, Q192R, L55M (paraoxonase 1; PON1), C677T, A1298C (methylenetetrahydrofolate reductase; MTHFR), and the presence/absence of the glutathione S-transferase T1 (GSTT1) gene were genotyped. Epistasis analysis was performed using the multifactorial dimensional reduction method. The best risk prediction model was selected based on precision (%), statistical significance (P<0.05), and cross-validation consistency. RESULTS: We found an independent association of the null genotype GSTT1*0/0 (OR=3.39, CI: 1.29-8.87, P=0.017) and the null allele (OR=1.86, CI: 1.19-2.91, P=0.007) with ischemic heart disease. The GSTT1*0 deletion and the 677TT genotype (MTHFR) were identified as being at a high cardiovascular risk, whereas the GSTT1*1 wild type genotype and the CC677 variant were at low risk. The gene-environment interaction identified the GSTT1 gene, C677T polymorphism (MTHFR), and hypertension as the factors that best explain ischemic heart disease in the study population. CONCLUSIONS: The interaction of the MTHFR, GSTT1 and hypertension may constitute a predictive model of risk for early onset ischemic heart disease in the population of Yucatan.

Percepciones declaradas por los estudiantes y profesores sobre lasvivencias/experiencias de la misión y visión de la USB-Medellín / Perceptions declared by the students and teachers on the experiences of the mission and vision of the USB-Medellin experiences

El siguiente texto presenta los resultados sobre el estudio, en torno a las percepciones declaradas por los estudiantes y profesores sobre las vivencia/experiencias de la misión yvisión de la Universidad de San Buenaventura-Medellín (Colombia). La metodología utilizada fue mixta. El muestreo fue aleatorio estratificado. La técnica utilizada fue la encuesta,estructurada con 20 ítems, distribuidos en las tres categorías de análisis (Misión, Visión y Dimensiones de la Pedagogía Franciscana).

The following text presents the results on the study, around perceptions declared by the students and professors about the ways of life and experiences of the mission and vision of Saint Bonaventure University, Medellin branch, Colombia. It used a mixed methodology. The sample was random, stratified. The technique used was the survey, which was structured with 20 items, distributed into three categories of analysis (Mission, Vision, andDimensions of the Franciscan pedagogy).

Polimorfismos G894T del gen NOS3 y G1958A del gen MTHFD1 y riesgo de cardiopatía isquémica en Yucatán, México / G894T (NOS3) and G1958A (MTHFD1) gene polymorphisms and risk of ischemic heart disease in Yucatan, Mexico

Introducción y objetivos: La medicina cardiovascular actual está dirigida a la búsqueda de marcadores de riesgo genético con valor predictivo y/o pronóstico. Entre las variantes de interés se encuentran los polimorfismos G894T en el gen óxido nítrico sin tasa endotelial y G1958A en el gen metilentetrahidrofolato deshidrogenasa 1. El objetivo de este estudio fue determinar la posible asociación entre estos polimorfismos y la cardiopatía isquémica (CI) en el sureste de México (Yucatán). Métodos: Estudio de casos y controles con pareamiento por edad, sexo y lugar de nacimiento. Se estudiaron 98 pacientes con CI y 101 controles. Todos los participantes fueron evaluados para los factores de riesgo tradicionales. Los polimorfismos se identificaron utilizando la reacción en cadena de la polimerasa mediante análisis de la longitud de los fragmentos de restricción. Se obtuvo el consentimiento informado de todos los participantes. Resultados: Los polimorfismos G894T y G1958A no mostraron asociación con la CI. Sin embargo, la estratificación según la manifestación clínica mostró que el genotipo TT (G894T) se asoció con la angina (OR = 10,2; IC 95%, 1,51-68,8; p = 0,025). Se observó mayor frecuencia del genotipo GT en los pacientes con historia familiar de enfermedad coronaria. El análisis de regresión logística identificó al tabaquismo (OR = 5,21; IC 95%, 2,1-12,9; p = 0,000), la hipertensión arterial (OR = 3,54; IC 95%, 1,47-8,56; p = 0,005) y la obesidad (OR = 1,16; IC 95%, 1,1-1,27; p = 0,001) como factores predictores de CI. Conclusiones: Los polimorfismos G894T y G1958A no mostraron asociación con la CI. Sin embargo, la homocigosis del alelo 894T (NOS3) confiere riesgo para el desarrollo de angina en Yucatán

Introduction and objectives: Cardiovascular medicine is focused on the search for genetic risk markers with predictive and/or prognostic value. Among the genetic variants of interest are G894T endothelial nitric oxide synthase and G1958A methylenetetrahydrofolate dehydrogenase 1 gene polymorphisms. The aim of this study was to determine the possible association between these polymorphisms and ischemic heart disease in patients from Southern of Mexico (Yucatán). Methods: Case-control study matched by age, sex and origin was designed. We studied 98 patients with coronary disease and 101 controls. Participants were evaluated for the usual risk factors. The polymorphisms were identified using the polymerase chain reaction/restriction fragment length polymorphism analysis. Informed consent was obtained from all participants. Results: The G894T and G1958A polymorphisms were not associated with ischemic heart disease, however, the TT genotype (G894T) was associated with the angina (OR = 10.2; 95% CI, 1.51-68.8; p = 0.025). The genotype GT (G894T) was the most frequent in patients with family history of coronary artery disease. Multiple logistic regression analysis identified smoking (OR = 5.21; 95% CI, 2.1-12.9; p = 0.000), hypertension (OR = 3.54; 95% CI, 1.47-8.56; p = 0.005) and obesity (OR = 1.16; 95% CI, 1.1-1.27; p = 0.001) as risk factors predicting the ischemic heart disease. Conclusions: The G894T and G1958A polymorphisms showed not association with ischemic heart disease. However, homozygosis for the 894T allele (NOS3) confers at risk to develop angina on Yucatán

[G894T (NOS3) and G1958A (MTHFD1) gene polymorphisms and risk of ischemic heart disease in Yucatan, Mexico]. / Polimorfismos G894T del gen NOS3 y G1958A del gen MTHFD1 y riesgo de cardiopatía isquémica en Yucatán, México.

INTRODUCTION AND OBJECTIVES: Cardiovascular medicine is focused on the search for genetic risk markers with predictive and/or prognostic value. Among the genetic variants of interest are G894T endothelial nitric oxide synthase and G1958A methylenetetrahydrofolate dehydrogenase1 gene polymorphisms. The aim of this study was to determine the possible association between these polymorphisms and ischemic heart disease in patients from Southern of Mexico (Yucatán). METHODS: Case-control study matched by age, sex and origin was designed. We studied 98 patients with coronary disease and 101 controls. Participants were evaluated for the usual risk factors. The polymorphisms were identified using the polymerase chain reaction/restriction fragment length polymorphism analysis. Informed consent was obtained from all participants. RESULTS: The G894T and G1958A polymorphisms were not associated with ischemic heart disease, however, the TT genotype (G894T) was associated with the angina (OR=10.2; 95%CI, 1.51-68.8; p=0.025). The genotype GT (G894T) was the most frequent in patients with family history of coronary artery disease. Multiple logistic regression analysis identified smoking (OR=5.21; 95%CI, 2.1-12.9; p=0.000), hypertension (OR=3.54; 95%CI, 1.47-8.56; p=0.005) and obesity (OR=1.16; 95%CI, 1.1-1.27; p=0.001) as risk factors predicting the ischemic heart disease. CONCLUSIONS: The G894T and G1958A polymorphisms showed not association with ischemic heart disease. However, homozygosis for the 894T allele (NOS3) confers at risk to develop angina on Yucatán.

Asociación entre el índice de masa corporal y el perfil de lípidos en niños y adolescentes mexicanos con obesidad: un análisis retrospectivo / Relationship between body mass index and lipid profile in obese Mexican children and adolescents: A retrospective analysis

Introducción: En México existen pocos datos referentes a la prevalencia de dislipidemia o de un perfil lipídico anormal en niños con obesidad, y su relación con el índice de masa corporal (IMC). El objetivo del estudio fue explorar esta asociación y los perfiles lipídicos más frecuentes en niños y adolescentes con obesidad. Métodos: Se realizaron mediciones antropométricas y bioquímicas en 289 niños entre 6 y 17 años de edad, y se estableció el grado de correlación de las variables lipídicas y el puntaje Z del IMC. Los pacientes se clasificaron de acuerdo con los perfiles lipídicos anormales; además, se determinó el más frecuente, y la diferencia en su frecuencia de acuerdo con el puntaje Z. Resultados: El puntaje Z del IMC demostró una correlación positiva con los niveles de colesterol total (CT) y colesterol de baja densidad (C-LDL) (r = 0.214, p <0.001 y r = 0.228, p <0.001, respectivamente). El perfil lipídico más frecuente fue el de colesterol de alta densidad bajo más hipertrigliceridemia (n= 128, 44.29%). Solamente el 16.26% de los niños fueron normolipémicos. Conclusiones: En niños con obesidad existe una correlación positiva entre el IMC y los niveles de CT y C-LDL. En estos niños, los perfiles lipídicos proaterogénicos comienzan en edades tempranas.

Background: In Mexico, data related to the prevalence of dyslipidemia or an abnormal lipid profile in obese children and its relation to body mass index (BMI) are scarce. The objective of this study is to explore this association and the most common lipid profiles in obese children and adolescents. Methods: Anthropometric and biochemical measurements were done on 289 children between the ages of 6 and 17 years, and the degree of correlation between lipid variables and BMI Z-score was established. Patients were classified according to abnormal lipid profiles. The most frequent profile was determined and the difference of their frequency according to Z-scores quartile. Results: Z-score showed a positive correlation with total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) levels (r = 0.214, p <0.001 and 0.228, p <0.001, respectively). The most frequent lipid profile was low high-density lipoprotein cholesterol plus hypertriglyceridemia (n = 128, 44.29%). Conclusions: In obese children there is a positive correlation between BMI and TC and LDL-C levels. In these children, proatherogenic lipid profiles begin early in life.

El comité de bioética, instancia deliberativa, académica y científica / The bioethics committee: a deliberative, academic, and scientific instance

A continuación se postulan Los Comités de Bioética como organismos de carácter deliberativos, axiológicos y deontológicos, fruto de la conciencia y el compromiso ético-critico de la población académica y científica para aportar de una forma pragmática y concreta a problemáticas que tocan directamente al hombre de hoy y su repercusión global futura. Presenta su acción imprescindible y incidencia en el debate bioético actual, sus características, dificultades, compromisos educativos y sus desafíos.

This article sets outs Bioethics Committees as organisms of deliberative, axiological, and deontological nature, as a result of the awareness and ethical-critical commitment of the academic and scientific population in order to contribute, in a pragmatic and concrete manner, to issues which directly deal with today´s man and their future global impact. It presents their essential action and incidence in the current bioethical debate, their characteristics, difficulties, educational commitments and challenges.

Una mirada hermenéutica a las características curriculares de la formación humana y bioética en la Universidad de San Buenaventura / A hermeneutic look at the curricular characteristics of the human and bioethical formation at Saint Bonaventure University

El Campo temático que se presenta está direccionado hacia la descripción y sistematización de los desarrollos curriculares, (formativos e identitarios) de las instituciones de educación Superior franciscana del siglo XXI. Recoge los avances hermenéuticos y resultados investigativos en torno a la formación socio – humanista de la Universidad de San Buenaventura (USB), que se han liderado desde su unidad de apoyo académico “Formación humana y Bioética

The thematic field which is introduced here is directed towards the description and the systematization of curriculum development -formative and identitarian- of the Franciscan Higher Education of the 21st century institutions. It collects research results and hermeneutical advances around the socio-humanistic formation at Saint Bonaventure University (SBU), which have been promoted from the "Human Formation and Bioethics,” its academic support unit

Estudio co-rrelacional del área socio-humanística en algunas instituciones de educación superior en Colombia / A correlational study of the socio-humanistic area in some higher educational institutions in Colombia

El siguiente texto presenta la descripción y análisis de la información obtenida a partir de la consulta documental y a expertos en las distintas instituciones universitarias. Hace una descripción comparativa de los componentes curriculares que integran la unidad en cada una de las seccionales USB Colombia y otras instituciones tenidas en cuenta para el presente estudio.

The following text introduces a description and analysis of the information obtained from documentary and statistical consultation in the various universities. It makes a comparative description of the curricular components that make up the unit in each of the Saint Bonaventure University branches, Colombia, and other higher institutions which are taken into consideration for the current study.

[Impact of perinatal mortality in multiple pregnancies over total perinatal mortality in a hospital in Monterrey, Nuevo León]. / Repercusión de la mortalidad perinatal de los embarazos múltiples en la mortalidad perinatal total en un hospital de Monterrey, Nuevo León.

BACKGROUND: The incidence of multiple pregnancies has increased on the last decade resulting in a rise of premature and underweight newborns infants, with increase of the perinatal morbidity and mortality. OBJECTIVE: To determine the impact of perinatal mortality of multiple pregnancies in the total perinatal mortality. PATIENTS AND METHOD: perinatal mortality rate of multiple pregnancies treated in the Unidad Médica de Alta Especialidad No. 23, Monterrey, Nuevo León (Mexico) were analized, from 2002 to 2008. The prevalence of multiple pregnancies, the rate of premature births, the incidence of low-birth weight products and perinatal mortality was estimated. The difference between overall mortality and multiple pregnancy rate was measured by chi2. RESULTS: Of the 144,114 births, there were 1076 (0.8%) fetal deaths and 1,617 (1.10%) neonatal deaths. There were 110 high-order fetal pregnancies (more than three fetuses): 92 triplets, 14 quadruplets, 3 quintuplets and 1 sextuplet, producing a total of 353 newborns. Multiple pregnancies represent 2.8% (59/2093) of the total perinatal mortality (p = 0.3). 79.9% (1674/2093) of the total perinatal mortality were newborns weighing less than 2500 g. In the group of multiple pregnancies, all perinatal deaths occurred in products weighing less than 2500 g. CONCLUSIONS: The perinatal mortality of multiple pregnancies does not impact significantly overall perinatal mortality.

[Prenatal diagnosis ovarian cyst with an amputation at three months of age. A case report]. / Diagnóstico prenatal de quiste de ovario con torsión y amputación a los tres meses de edad. Reporte de un caso.

UNLABELLED: In the neonate the pelvic masses regularly are usually benign until in 87%, those of ovarian origin most is of cystic and benign origin. CLINIC CASE: Of a pregnant of 26 years of age, primigesta, was detected to the fetus during the 24 weeks of gestation an abdominal cyst in pelvic hole of 3.5 diameter cm, non motive. The pregnancy culminated for caesarean operation, feminine product was obtained with weight when being born 3.400 kg. They were practiced 3 ultrasounds: when being born, to the month and two months of age, finding ovary cyst with the same characteristics. To the 3 months it is observed in 4th control ultrasound that the cystic image was no longer in pelvic hole, but it liberates in abdominal cavity for what decides to make exploratory laparotomy, where is a cyst of free amputated ovary in abdominal cavity of 3.5 x 4 diameter cm. The pathology results reported an ovary with necrosis areas and content cystic saculado.

[Prenatal diagnosis of pulmonary valve stenosis and immediate neonal valvuloplasty]. / Diagnóstico prenatal de estenosis pulmonar grave y valvuloplastia neonatal inmediata. Reporte de un caso.

UNLABELLED: There are few reports of prenatal diagnosis of severe pulmonary valvar stenosis (PVS). It affects 1/22,000 newborn and represents 8-10% of total congenital cardiac defects. Clinic CASE: we report a case of a neonate in which was prenatally detected a pulmonary valvar stenosis and was successfully corrected with early valvuloplasty. From a 36-Year-old woman sent to evaluation to the fetal maternal unit because a tricuspid valvar insufficiency detected at 36 gestation weeks (GW). A VPS was suspected before born and a pregnancy ended in programated caesarean delivery at 38 GW, obtaining a 3 kg male, in which early echocardiography reported a severe PVS, promptly was initiated prostaglandin E1 (PgE1) infusion avoiding patent ductus arteriosus (PDA) closure, following a percutaneus balloon dilatation valvuloplasty at 48 hours, improving cyanosis and transvalvular Doppler flow. CONCLUSION: we report a neonate referred with an opportune prenatal diagnosis of tricuspid insufficiency and confirmed a severe PVS, PgE1 was infused immediately after born, allowing successfully balloon dilatation valvuloplasty in first 48 hours.

Genotype distribution of cervical human papillomavirus DNA in women with cervical lesions in Bioko, Equatorial Guinea.

BACKGROUND: The HVP vaccine is a useful tool for preventing cervical cancer. The purpose of this study is to determine the most frequent HPV genotypes in Equatorial Guinea in order to develop future vaccination strategies to apply in this country. METHODS: A campaign against cervical cancer was carried out in the area on a total of 1,680 women. 26 of the women, following cytological screening, were treated surgically with a loop electrosurgical excision procedure (LEEP). Cases were studied histologically and were genotyped from paraffin blocks by applying a commercial kit that recognized 35 HPV types. RESULTS: Cytological diagnoses included 17 HSIL, 1 LSIL, 5 ASC-H and 3 AGUS. Histological diagnosis resulted in 3 cases of microinvasive squamous cell carcinoma stage IA of FIGO, 9 CIN-3, 8 CIN-2, 2 CIN-1, 3 flat condylomas and mild dysplasia of the endocervical epithelium. Fifteen of twenty-five cases genotyped were positive for HPV (60%). HPV 16 and 33 were identified in four cases each, HPV 58 in two other cases, and HPV 18, 31, 52, and 82 in one case, with one HPV 16 and 58 coinfection. CONCLUSION: The frequency of HPV types in the African area varies in comparison to other regions, particularly in Europe and USA. Vaccination against the five most common HPV types (16, 33, 58, 18, and 31) should be considered in the geographic region of West Africa and specifically in Equatorial Guinea.

[Prenatal diagnosis of polycystic kidneys and Mullerian duplication. A case report]. / Diagnóstico prenatal de riñones poliquísticos y duplicación mulleriana. Reporte de un caso.

Polycystic kidney disease is a common genetic cause of chronic kidney disease, characterized by the formation of multiple cysts in the kidneys and other organs, occurs in 1 in 20,000 live births. 30 to 50% of affected newborns die shortly after birth because of respiratory and renal insufficiency. This study reports the case of a newborn with polycystic kidney disease diagnosed by obstetric ultrasound at 26 weeks of gestation and kidneys anhidramnios due to increased volume and appearance "in sponge." Neonato a primigravida 19 years of age. At 26 weeks you will be detected in a routine obstetric evaluation that measures were in line for somatométricas fetal gestational age, and anhidramnios increase in renal mass and bilateral thorax narrow. The pregnancy ended in a cesarean section at 37 weeks with a newborn of 3140 g, women who died within minutes after birth. We requested an autopsy because of the need for genetic counseling. The findings were: enlarged kidneys with microcystic dilatation of collecting duct and in the renal cortex and medulla, liver fibrosis and Müllerian duplication with double uterine cavity. It is a rare association between polycystic kidney disease and Müllerian duplication, liver fibrosis confirmed by autopsy and has not been documented previously.

[Erythropoietin and cancer-related anaemia. Light and shade]. / Eritropoyetina en la anemia del paciente oncológico. Luces y sombras.

The use of recombinant human erythropoietin (r-HuEPO) in cancer patients improves hemoglobin levels and quality of life. This fact, already well known, made oncologists expect a positive outcome in radio and chemotherapy results, as well as in survival. However, new clinical trials show a preliminary evidence of impaired, instead of improved, survival when these agents are prescribed. Erythropoietin (EPO) is becoming a more complex hormone than it was expected. Its non-erythropoietic effects include, among others, angiogenesis and proliferation of certain types of cancer cells. In this work, we review erythropoietin as a natural hormone, as well as the different types of r-HuEPO, focusing on the confusing situation with regard to their use in oncology. We conclude that extreme care must be taken when EPO is prescribed to cancer patients, and we suggest to limit its use to symptomatic anemia, just to achieve moderate hemoglobin levels.

Eritropoyetina en la anemia del paciente oncológico: luces y sombras / Erythropoietin and cancer-related anaemia: light and shade

La utilización de eritropoyetinas recombinantes humanas en pacientes con cáncer mejora la anemia y la calidad de vida. Este hecho ya demostrado hacía presagiar una repercusión positiva en los resultados de la radioterapia y la quimioterapia y en el pronóstico oncológico global. Estudios clínicos recientes parecen indicar, todavía de modo provisional, un detrimento en lugar de mejora en la supervivencia cuando se administran estos fármacos. La eritropoyetina aparece cada vez más nítidamente como una hormona mucho más compleja de lo que suponíamos. Sus efectos no eritropoyéticos incluyen, entre muchos otros, estimulación de la angiogénesis y de la proliferación celular de diversas líneas tumorales. Revisamos la eritropoyetina como hormona natural y las diversas eritropoyetinas recombinantes humanas existentes, deteniéndonos en el confuso panorama actual de su utilización en oncología. Concluimos que debe extremarse la cautela cuando se utilice en pacientes con cáncer y proponemos limitar su uso a anemias sintomáticas y, en todo caso, establecer como objetivo valores de hemoglobina muy moderados

The use of recombinant human erythropoietin (r-HuEPO) in cáncer patients improves hemoglobin levels and quality of life. This fact, already well known, made oncologists expect a positive outcome inradio and chemotherapy results, as well as in survival. However, new clinical trials show a preliminary evidence of impaired, instead of improved, survival when these agents are prescribed. Erythropoietin(EPO) is becoming a more complex hormone than it was expected. Itsnon-erythropoietic effects include, among others, angiogenesis andproliferation of certain types of cancer cells. In this work, we review erythropoietin as a natural hormone, as well as the different types of r-HuEPO, focusing on the confusing situation with regard to their use in oncology. We conclude that extreme care must be taken when EPO is prescribed to cancer patients, and we suggest to limit its use to symptomatic anemia, just to achieve moderate hemoglobin levels

Etica en genética médica: actitud frente a dilemas en el asesoramiento genético / Ethics in genetics

Objetivo: Determinar la actitud de especialistas frente a dilemas éticos en relación al asesoramiento genético. Para realizar un anáisis de las actitudes frente a dilemas éticos que surgen en el asesoramiento genético, en los profesionales de la salud, principalmente gineco-obstetras, pediatras y genetistas de la ciudad Santafé de Bogotá; se realizó la averiguación entre profesionales que costó de un formulario que contenía preguntas y relatos de casos del asesoramiento genético. Los datos fueron recolectados desde Febrero de 1993 hasta Mayo de 1994. Se recolectaron 224 encuestas diligenciadas, correspondientes al 44.9 por ciento del total de repartidas. En la encuesta se preguntó respecto a la frecuencia con la que se interrogaba acerca de los antecedentes genéticos, la frecuencia con la que realizaban asesoramiento genético y la actitud ante dilemas presentados en seis casos, acerca: Confidencialidad ante paternidad imputada, Realización de procedimientos riesgosos, Situaciones que desvíen el motivo de consulta, Uso de medicamentos a los cuales no se le ha demostrado teratogenicidad aunque haya sospecha de ésta. El 45 por ciento de los encuestados envían a una paciente a una institución en donde realicen el asesoramiento, mientras que el 50 por ciento realiza el asesoramiento dependiendo del caso, el restante 4 por ciento siempre realiza el asesoramiento. Las respuestas a los dilemas fueron diversas y se encontraron respuestas diferentes en relación a los dilemas planteados en trabajos similares realizados en otros países como Brasil y Estados Unidos. No se observaron diferencias estadísticas importantes.