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OBJECTIVE: This paper compares demographic, morphological, functional, and risk factors between isolated and familial forms of microtia in Ecuadorian mestizo patients. METHODS: The authors did an epidemiological, and retrospective study with 112 patients divided into isolated microtia (n = 91) and familial microtia (n = 21). Patients with syndromic microtia were not included. RESULTS: In isolated microtia, the mean age was 11.80 ± 16.9, and the most prevalent age group was from 5 to 9 years, with 45.0%; males were 58.2%, and 91.2% of patients were born in a city above 2500 meters about sea level. In familial microtia, the mean age was 15.57 ± 17.2. There were no statistically significant differences between the analyzed variables. In isolated microtia, 41.8% of patients had bilateral involvement, 40.7% had grade 1 microtia in the right ear (RE), and grade 1 in the left ear was 47.3%; external auditory canal atresia of RE was present in 62.6%, and in left ear in 31.6%. External auditory canal atresia sidedness was mostly unilateral in both groups. Most patients did not have tags or pits (78% and 81% in RE and 85.7% and 71.4%). Most patients had moderate hearing loss in both ears. CONCLUSION: The authors found an association between both microtia forms with external auditory canal atresia in RE; only 20% of patients had unilateral auricular tags or pits in both groups. The authors also found a high incidence (18.75%) of familial microtia, which suggests a distinct pathological genetic component than the more prevalent isolated cases. The authors found a high association of microtia cases from the Ecuadorian highlands above 2500 meters about sea level (over 90%). The presence of "social" intake of alcohol during pregnancy showed over twice the chance of having a child born with microtia.

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Contexto: el pensamiento de Bolívar sobre la educación fue decisivo en la creación de las nuevas universidades nacidas luego de la independencia de América. Bolívar impulsaba el método lancasteriano. Discusión: la enseñanza mutua fue practicada por algunos maestros particulares y en las escuelas gratuitas de algunos conventos. La compañía lancasteriana fue la que ganó el apoyo gubernamental y público, e impulsó el establecimiento de escuelas de enseñanza mutua en toda la nación. El sistema lancasteriano fue de suma relevancia por sus características, ya que como no existían gran número de maestros, se capacitaba y orientaba a niños con capacidades sobresalientes, para enseñar al resto del grupo y esto reducía costos y mejoraba el acceso a la educación. Conclusión: las reformas que se dieron en 1827, basadas en las ideas de Bolívar que promulgaba el método lanacasteriano, en el campo de la enseñanza de la medicina en Quito fueron vitales, ya que incluso se creó una facultad médica propia en la Universidad Central de Quito. Esto se dio gracias a la gestión de José Miguel Carrión y Valdivieso, Rector de la Universidad, cuyo legado es de gran importancia para el funcionamiento y existencia de la actual Facultad de Ciencias Médicas. (AU)

Context: Bolivar's thought on education was decisive in the creation of new universities born after the independence of America. Bolivar drove the Lancasterian method. Discussion: in response to medical paternalism, four basic principles have been proposed concerning the position of themutual teaching was practiced by some private teachers and in the free schools of some convents. The Lancasterian company was the one that won the support of government and the public, and encouraged the establishment of mutual teaching schools nationwide. The Lancasterian system was of great importance due to its characteristics, since as there were not a large number of teachers, children with outstanding abilities were trained and oriented to teach the rest of the group and these reduced costs and improved access to education. Conclusion: the reforms that took place in 1827, based on the ideas of Bolívar that promulgated the lancasterian method, in the field of medical education in Quito were vital, since even a medical faculty of its own was created at the Central University of Quito. This was thanks to the management of José Miguel Carrión and Valdivieso, rector of the university, whose legacy is of great importance for the functioning and existence of the current Faculty of Medical Sciences.(AU)

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La genética médica en el Ecuador aún se encuentra en fase de desarrollo y requiere una consciencia nacional para su crecimiento1. Las primeras publicaciones sobre genética en el país se realizaron entre 1915 y 1922 y versaron sobre la herencia patológica y sobre el síndrome de Down. Para 1984, la genética inicia su actividad como especialidad médica; en Quito se ofrece este servicio en los hospitales Carlos Andrade Marín y Militar. En 1987 se inauguró la Cátedra de Genética en la Facultad de Ciencias Médicas de la Universidad Central en Quito y empieza la formación de genetistas en el Postgrado de Ciencias Básicas Biomédicas de la Universidad Central del Ecuador. Para 1992 se implementan pruebas diagnósticas de patologías metabólicas y en el año de 1995 inician en el país los primeros trabajos de investigación con técnicas de genética molecular. En 1997 se realizó la primera prueba de paternidad por ADN en el país; en 1999, el Ministerio de Salud Pública del Ecuador (MSP) crea un programa piloto para diagnóstico prenatal de defectos de tubo neural (DTN) y un proyecto para cuantificar niveles de ácido fólico en anomalías congénitas2. Como un hito, en el 2010, varios investigadores y genetistas elaboraron el primer proyecto nacional de tamizaje neonatal2 para hipotiroidismo congénito, fenilcetonuria, galactosemia e hiperplasia suprarrenal, con notable éxito, reconocido por el Estado como el programa de mayor impacto social en el año 2011. Este programa, en sus primeros años se desarrolló en forma conjunta con la Vicepresidencia de la República3 (AU)

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Contexto: los efectos de la exposición a la contaminación sonora incluyen síntomas auditivos como hipoacusia, elevación del umbral auditivo, trauma acústico y también no auditivos de tipo psicológico, físico y social. Material y métodos: estudio descriptivo analítico y transversal para determinar la eficacia de la atenuación sonora de los protectores auditivos personalizados en un grupo de 33 pacientes hombres sin alteraciones físicas del conducto auditivo externo, mediante la comparación de las respuestas obtenidas en el oído real libre y sin amplificación (Real-Ear Unaided Response) y con el oído herméticamente ocluido por medio de un tapón de silicona hecho a la medida (Real-Ear Occluded), ante la presencia de un ruido externo estable de banda ancha de 65 dB de intensidad, utilizando para ello un equipo de precisión certificado con normas ISO (Verifit de Audioscan). Resultados: se encontró que existe mayor protección a los decibeles altos con las frecuencias: 2000 Hz, 3000 Hz y 4000 Hz, bajando de 65 a 40 decibeles que traduce una reducción del 61%; no existe diferencia significativa entre ambos oídos, lo cual se explica por las particularidades en las formas anatómicas, profundidad de la inserción y la adecuada colocación de la sonda microfónica. Los valores promedio de atenuación bilateral en dB SPL que se logra en las diferentes frecuencias con tapones personalizados de protección auditiva varían dependiendo de la misma, con 250 Hz es de 9,97 en el oído derecho y 9,36 en el oído izquierdo y con 6000 Hz 15,28 en el oído derecho y 13,64 en el oído izquierdo. Una mayor atenuación se encontró con 3000 Hz (OD: 32,11 OI: 30,69), 2000 Hz (OD: 28,33 OI: 28,47) y 4000 Hz (OD: 27,28 OI: 26,67). Conclusión: el uso de protectores auditivo logra una evidente reducción de los niveles sonoros, sobre todo con frecuencias agudas (primeras) cuyos umbrales se afectan al someterse a elevados niveles de ruido por tiempos prolongados. (AU)

Context: the effects of exposure to noise pollution include auditory symptoms: hearing loss, elevation of the auditory threshold, acoustic trauma and also non-auditory psychological, physical and social. Material and methods: a descriptive, analytical, cross-sectional study, the efficacy of the sound attenuation of the personalized hearing protectors was determined in a group of 33 male patients without physical alterations in the external auditory canal, by means of the comparison of the responses obtained in the ear Real-Ear Unaided Response, and with the ear sealed by means of a custom-made silicone plug (Real-Ear Occluded), in the presence of stable external broadband noise of 65 dB Of intensity, using a precision equipment certified with ISO standards, the Verifit of Audioscan. Results: it was found that there is a greater protection to high decibels with frequencies 2000 Hz, 3000 Hz and 4000 Hz, falling from 65 to 40 decibels, which means a reduction of 61%, there is no significant difference between both ears, Which is explained by the particularities in the anatomical forms, depth of insertion and the proper placement of the microphone probe. The average bilateral attenuation values in dB SPL that is achieved in the different frequencies with personalized ear protection plugs vary depending on the same, with 250 Hz being 9.97 in the right ear and 9.36 in the left ear and with 6000 Hz 15.28 in the right ear and 13.64 in the left ear. Greater attenuation was found with 3000 Hz (OD: 32.11 OI: 30.69), 2000 Hz (OD: 28.33 OI: 28.47) and 4000 Hz (OD: 27.28 OI: 26.67). Conclusion: the use of hearing protectors; Achieves an evident reduction of the sound levels, especially with acute frequencies, which are the first ones whose thresholds are affected when undergoing high levels of noise for prolonged times. Keywords: sound attenuation, hearing protectors, noise induced hearing loss, auditory contamination

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A total of 119 unrelated individuals from two of the major ethnic groups in Ecuador were typed for 49 of the autosomal single nucleotide polymorphisms (SNPs) in the SNPforID 52plex using the SNapShot(®) assay. Of the above, 42 samples originated from Mestizos (an admixed population) and the remaining 77 were from Native Amerindian Kichwas. We obtained full SNP profiles in all individuals and concordance of duplicated analyses. No deviation from Hardy-Weinberg equilibrium (HWE) was observed for any SNP in the Mestizo and Kichwa populations and only one and four pairs of loci, respectively showed significant linkage disequilibrium. A relatively low genetic diversity and global positive F(IS) value was observed in Kichwas. A statistically significant global F(ST) value was obtained when the two Ecuadorian populations were compared with populations in Spain, Portugal, Argentina, Denmark, Greenland, China, Somalia and Mozambique. All pairwise F(ST) values were statistically significant. A multi-dimensional scaling based on pairwise F(ST) values showed that the Kichwa population differed from all other populations investigated and that the Mestizos had an intermediate position between Kichwas and Europeans. An admixture analysis indicated that the greater contributor to the Mestizo population was the Kichwas (71.2%) compared to the European contribution. The combined mean match probability and mean paternity exclusion probability were 3.3 × 10(-17) and 0.998, respectively, for the Mestizo population and 3.3 × 10(-14) and 0.993, respectively, for the Kichwa population.

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BACKGROUND: White phosphorus (WP) is widely used illicitly in fireworks in South America. We report our experience in seven Ecuadorian hospitals. METHODS: A cross-sectional study of patients presented during 2009. Inclusion criteria included: reported oral ingestion of firecrackers (little devils) in any age. Data were gathered using inpatient records and a written survey of the victims. RESULTS: The mean age of the patients was 21.6+/-7.1 years (women 63.5%); 64.7% of cases occurred in November, December and January. In 46% of cases, the number of units ingested was between 1 and 5 (~0.3 to 1.5 g WP), maximum 40 (~12 g). Forty-seven cases attended within 12 hours (55.3%); 5.9% died and 2.4% were readmitted. The remainder were eventually discharged well. Clinical features included: abdominal pain, cramps, diarrhoea, jaundice, nausea and vomiting, abnormal liver enzymes, and coagulation times and hypoglycaemia. CONCLUSIONS: The typical case was an adolescent woman between 16 and 19 years with self-harm around Christmas. There was no specific treatment, but early attendance was associated with improved prognosis. Further studies are necessary to establish an adequate protocol of treatment.

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La construcción de una agenda de prioridades de investigación es una herramienta esencial para acrecentar la capacidad de investigación científica y tecnológica, y el resultado de procesos sistemáticos dirigidos a jerarquizar, seleccionar y organizar problemáticas que pueden ser resueltas por métodos científicos.(AU)

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La construcción de una agenda de prioridades de investigación es una herramienta esencial para acrecentar la capacidad de investigación científica y tecnológica, y el resultado de procesos sistemáticos dirigidos a jerarquizar, seleccionar y organizar problemáticas que pueden ser resueltas por métodos científicos.

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AIM: To identify the immunogenetic factors that trigger the beginning of preeclampsia and eclampsia. METHODS: A retrospective, case-control study of 142 pregnant women in Obstetrics and Gynecological Hospital Isidro Ayora in Quito, who are grouped into two different groups, diseased and healthy. The study analyzed ethnicity, age, gynecological history, contraception, immunizations, blood type and Rh factor, and family history of preeclampsia-eclampsia of each of the pregnant women; and gestational age, sex, weight, and blood type and Rh factor of the progeny. RESULTS: Age, ethnicity, history of pregnancy, abortions, contraception, and blood type and Rh factor were similar for both groups (p > 0.05). Gestational age and weight of the progeny was lower in cases compared with controls (p < 0.05). There was no statistical difference when comparing the blood type and Rh factor of the two groups (p > 0.05). Male gender was predominant in both groups for cases 69.01 and 87.32% for controls (p < 0.05). CONCLUSIONS: There was a higher predisposition for inherited cases (26%) versus controls (9.85%), p < 0.05, for the occurrence of preeclampsia. The frequency of the recessive gene for Mendelian inheritance model mother-fetus homozygous (aa/aa), in agreement with the Hardy-Weinberg Law, was 0.41 for the sample.

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AIM: This study sets out (a) to estimate the prevalence of admissions by birth defects, using the official database of hospitals of Ecuador; and (b) to set the basis for a new National Register of Birth Defects in Ecuador that works as a program for the clinical and epidemiological investigation of risk factors in the etiology of congenital anomalies in Ecuadorian hospitals, using a case-control methodological approach. This is the first report in their class. METHODS: The data used in this study are derived from the National Register of Hospital Admission/Discharges of the Instituto Nacional de Estadísticas y Censos; data of the Ministry of Public Health were also used. Ecuador does not have an official Medical Birth Registry or a Congenital Malformations Registry. RESULTS: A total of 51,375 discharges by congenital malformations were registered in a 7-year period. Of these, 16,679 admissions were of children aged less than 1 year of age, with a birth prevalence rate (BPR) of 72.33/10,000 births. 77% of the congenital defects registered comprise the 50 most common birth defects observed in this age group. Cleft lip was the most prevalent birth defect in children less than 1 year of age and the second most common defect in children 1 to 5 years of age. Unilateral cleft lip shows a BPR of 4.57/10,000 births; cardiac birth defects as a group have a BPR of 4.2; hydrocephalus a BPR of 3.77; and Down's syndrome a BPR of 3.70. Undescended testicle was the most prevalent birth defect in children between 1 to 5 years. 9384 children under 1 year of age were male (55.9%) and 7053 were female (42.1%). BPR in males was 40.45 and in females 30.40. CONCLUSION: This report documents the prevalence estimates for birth defects reported in the hospital discharge data. These estimates are important to 1) plan for health-care and education needs of the Ecuadorian population, 2) identify increased occurrences of birth defects in specific geographic regions, 3) serve as a reference point for assessment of provincial surveillance systems, 4) evaluate national public health interventions, 5) compare Ecuador prevalence estimates with those of other countries, and 6) help determine the appropriate allocation of resources for basic and public health research. There is an urgent need to establish a National Registry of Birth Defects involving different sources of information such as prenatal medical records, birth records and medical records during the first year of life at an early stage, and surveys on cytogenetic prenatal diagnostic surveys and cytogenetics of therapeutic abortions.

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La investigación avanzada en células madre trata sobre como un organismo desarrolla de una simple célula unorganismo adulto o como reemplaza las células dañadas. Está es una prometedora área de investigación que permitirá el desarrollo de terapias celulares que son llamadas Medicina Regenerativa o Reparativa. Las stem cells son hoy por hoy la más fascinante área de la biología, que está expandiéndose rápidamente y generando nuevos descubrimientos. En esta revisión tratamos sobre conceptos básicos enfocados en el origen de las células y sus aplicaciones en la medicina.

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Se determinaron las concentraciones de Pb en sangre y las frecuencias de aberraciones cromosómicas en una población expuesta laboralmente al Pb y en una población testigo con estructura étnica y ubicación geográfica similar a la población expuesta. Teniendo en cuenta que los niveles sanguíneos de Pb en Ecuador son más altos que en otros países debido al empleo de combustibles y pinturas plomadas, se consideraron como niveles altos de Pb en sangre las concentraciones superiores a 39ug/dl. El promedio de Pb en sangre en la población testigo fue 20,1 +8,6 ug/dl, mientras que en la población expuesta se encontraron niveles promedio de Pb sanguíneo de 71.8 + 25.4 ug/dl (p 0,0001). El análisis comparativo de las anomalías cromosómicas entre la población testigo y la expuesta mostró, en esta última, un incremento significativo de brechas de isocromátida, fragmentos acéntricos, cromosomas desespiralizados, y pulverizaciones cromosómicas. Estos resultados indican que la contaminación por Pb produce aberraciones cromosómicas, probablemente mediante un mecanismo indirecto por bloqueo en la síntesis de ADN. La población expuesta también exhibió un incremento muy significativo de asociaciones cromosómicas satelitales (3 o más cromosomas asociados por adhesividad de satélites). El significado de este hallazgo no es claro, pero sugiere que la población expuesta podría tener un aumento en el riesgo de nacimientos con trisomías. El agregado de bleomicina a los cultivos de sangre permitió determinar que el Pb no potencia la acción clastogénica de este compuesto (p 0.05).

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