Genetic polymorphisms of CYP2C19 in ecuadorian population: An interethnic approach.

Introduction: CYP2C19 is a highly polymorphic gene responsible for metabolizing commonly used drugs. CYP2C19*2,*3 (loss of activity alleles) and *17 (increased activity allele) are the principal alleles included in clinical guidelines, however their prevalence varies among different ethnicities. Ecuadorian population is formed by Mestizos, Afrodescendants and Native Americans and frequency of CYP2C19 alleles could be different among them. The objective of this study was to establish the frequency of these variants in the different populations of Ecuador and to compare them with other populations. Materials and methods: DNA from 105 Afrodescendants, 75 Native Americans of the Kichwa ethnicity, and 33 Mestizos Ecuadorians was analyzed by nested-PCR to identify CYP2C19*17 carriers. CYP2C19*2 allele was analyzed in DNA from 78 Afrodescendants, 29 Native Americans of the Kichwa, and 16 Mestizos by TaqMan Allelic Discrimination Assay. CYP2C19*3 was analyzed in 33 Afrodescendants by nested-PCR. Results: The global frequencies of the alternate alleles were 14.22% (CYP2C19*2) and 2.10% (CYP2C19*17). No differences (p > 0.05) were observed among the subgroups. No CYP2C19*3 carrier was identified. CYP2C19*2 frequencies in Ecuador were similar to the ones reported in Europe, Africa and Middle East countries and to some American populations. Low CYP2C19*17 frequencies, like the ones in our population, were also observed in East and South Asia and in Native American groups. Discussion: Absence of differences in the ethnic groups in Ecuador for CYP2C19*2 and *17 could be due to either a bias in sample selection (ethnic group was assed by self-identification) or to a high interethnic admixture in the Ecuadorian population that would had diluted genetic differences. In addition, CYP2C19*2, *3, and *17 alleles frequencies in our study suggest that Ecuadorians ancestry is mostly of Native American origin.

Modic Changes in Ecuadorian Mestizo Patients: Epidemiology, Clinical Significance, and Role in Chronic Low Back Pain.

Modic changes (MC) are bone marrow lesions seen within a vertebral body on MRI, possibly associated with low back pain (LBP). Though the causes and mechanisms responsible for the formation of MC are still poorly understood, progress is being made in linking his spinal phenotype with disc degeneration and LBP. This paper analyzes the epidemiology, clinical signs, lesions type, and treatment of vertebral discopathy associated with MC in Ecuadorian mestizo patients, comparing MC type I-II changes versus MC type III differences. We performed an epidemiological, observational, cross-sectional study with two cohorts of Mestizo patients collected at "Hospital de los Valles" in Quito, Ecuador, between January 2017 and December 2020; 288 patients diagnosed with degenerative lumbar disc disease plus MC was taken who underwent surgery; 144 with MC type I-II (cohort 1) and 144 with MC type III changes (cohort 2). Cohort 1 was characterized by 68.8% of men with a mean age of 45 years who perform minimal or moderate exercise in 82% of cases. They showed only one level lesion in 88.9% of patients with a pain intensity of 7 or more on the visual analog scale, with three or more months of evolution, in 78.5% of cases of degenerative etiology, mainly between the L5-S1 lesion of the left side. Cohort 2 was 53.5% of women with a mean age of 62. In 81.4% of cases, they perform minimal or moderate exercise. They showed two-level lesions in 45.8% of patients with a pain intensity of 7 or more on the visual analog scale, with three or more months of evolution, in 97.9% of cases of degenerative etiology, mostly between L4-L5 lesions of the left side. In both groups, most patients showed a protruded and lateral hernia. There is a greater predisposition to require surgery for lumbar disc herniation in young men and older women. In addition, surgery at an older age has a higher risk of complications, especially infection.

A comprehensive study of Ecuadorian adult patients with a mild and moderate presentation of COViD-19.

AIM: To characterize non-hospitalized patients with mild and moderate clinical presentation. METHODS: We performed an epidemiological, observational, descriptive, and cross-sectional study carried out in Ecuador, with 1,447 participants between 18 and 66 years, non-hospitalized, with a molecular RT-PCR test for SARS-CoV2. We analyzed demographic characteristics according to sex, age group, clinical findings, behavior after diagnosis, family and social behavior, sequelae, clinical evolution, type of exposure, and personal history. RESULTS: The sample analyzed had a mean age of 37 years (95% CI 18-66), women 713 individuals (49.27%), men 733 individuals (50.66%). Age group distribution was 18-30 years, 524 individuals (36.29%), 31-45, 538 individuals (37.26), and more of 45 years, 382 individuals (26.46%). 1416 individuals were mestizos (97.99%). According to the province of residence from Pichincha were 1019 patients (70.52%), followed by Imbabura, 93 patients (6.44%), and the others 335 (23.15%) patients come from all over the country. In women, the most common findings were fever >38°C (54.40%), sputum (27.43%) and hypoxia (16.32%); HTN (5.75%) and hypercholesterolemia (3.69%). Men were more prevalent in all other findings. Comorbidities were more prevalent in all those over 45 years of age. COVID-19 antibodies test was positive in 416 patients (28.85%). Neuropsychiatric symptoms such as sleep disorders, generalized anxiety disorder, depressed mood, and chronic fatigue were more prevalent in men than women. Still, generalized anxiety disorder and chronic fatigue were more common in individuals of 31 to 45 years. 868 patients (60.07%) were in contact with a known infected person, 318 patients (22.02%) were health workers, and 782 patients (57.63%) were informed about work exposure. 545 patients (37.72%) were overweight, primarily women 310 (42.29%). 609 patients (42.65%) showed symptoms after the acute period, and 331 individuals (23.49%) reported some sequelae. CONCLUSION: The epidemiological and clinical behavior of hospitalized and critical patients differs greatly from ambulatory or mild or moderate symptoms. It is essential to highlight those non-hospitalized patients constitute the predominant population of patients, hence the importance of adequate management that would directly affect the development of complicated forms and, consequently, the collapse of healthcare centers. It is vitally important to open more investigations that compare hospitalized and outpatient patients to have a clearer picture of the epidemic.

Genomic evidence for adaptation to tuberculosis in the Andes before European contact.

Most studies focusing on human high-altitude adaptation in the Andean highlands have thus far been focused on Peruvian populations. We present high-coverage whole genomes from Indigenous people living in the Ecuadorian highlands and perform multi-method scans to detect positive natural selection. We identified regions of the genome that show signals of strong selection to both cardiovascular and hypoxia pathways, which are distinct from those uncovered in Peruvian populations. However, the strongest signals of selection were related to regions of the genome that are involved in immune function related to tuberculosis. Given our estimated timing of this selection event, the Indigenous people of Ecuador may have adapted to Mycobacterium tuberculosis thousands of years before the arrival of Europeans. Furthermore, we detect a population collapse that coincides with the arrival of Europeans, which is more severe than other regions of the Andes, suggesting differing effects of contact across high-altitude populations.

Post-COVID-19 conditions in Ecuadorian patients: an observational study.

BACKGROUND: Post-COVID-19 disease is not yet clearly described, presenting significant clinical variability across populations and patients. This paper compares post-COVID symptoms in three patient groups with mild, moderate, and severe infections in Ecuadorian outpatients. METHODS: An epidemiological, observational, descriptive, and cross-sectional study was performed, and carried out in Quito, Ecuador. 1,366 non-hospitalized participants between 12 to 85 years, diagnosed with COVID-19 infection by molecular RT-PCR were included in the study. Demographic characteristics, including age groups, sex, ethnic group, work type, residence type, comorbidities, diagnosis, symptoms, and treatment were studied. FINDINGS: 1,366 outpatient Ecuadorian patients were analysed with SARS-CoV2 infection confirmed with a PCR+ test. The mean age was 39 (± 10) years, distributed by age groups ranging between 12 and 85 years; 81.41% were between 18 and 54 years. 50.29% were men, and 49.71% were women. INTERPRETATION: 64.3% of patients had symptoms between 4 to 6 weeks after infection, 21.1% showed ongoing symptoms between 6 to 12 weeks, and 14.6% had symptoms for more than 12 weeks. The most common symptom was fatigue in 67.3% of patients, followed by headache in 45.2%, body pain in 42.3%, and sleep disorders (insomnia, sleep apnoea, restless leg syndrome) in 36.5%. 69.3% of patients showed mild infection, 21.7% moderate, and 9.0% severe infection. On average, patients' daily life activities showed a 6.8% mean degree of impact following infection. A sedentary lifestyle (walking less than 30 minutes a day) was the most critical risk factor (40.3%), followed by being a health worker (11.87%). Patients aged ≥55 years with HTN, CKD, smoking, and sedentary lifestyle were 4.39, 1.92, 9.19, 4.07, and 2.42 times more likely to have a severe infection level. At least 30% of patients do not feel recovered from COVID-19 infection. FUNDING: The author declares that the financial resources for the preparation of this research come from their self-management.

Newborns physiological differences in low- and high-altitude settings of Ecuador.

Newborns show physiological differences in low- and high-altitude settings of Ecuador; those differences are especially relevant because most important cities in Ecuador are located at high altitude, above 2500 m. This study is an epidemiological, observational, and cross-sectional research performed at San Francisco Hospital in Quito (at 2850 m) and General Hospital in Manta (at 6 m) in the Manabí province. We studied 204 full-term newborns, healthy without any prenatal comorbidities, singleton pregnancy, mestizos, and born of healthy parents born. We found significant differences between the values of red blood cells (RBC), leucocytes, hematocrit, and hemoglobin. There was a difference of 27% more in RBC, 3% at hematocrit, and 0.4 g at hemoglobin in the high-altitude cohort. The leucocyte difference is 1270 cells/µl, which means a difference of 6%. At high-altitude settings, the mean pH was lower than normal values and pO2, pCO2, and HCO3. High-altitude newborns showed RBC of > 4,500,000 cells/µl; leukocytes > 19,000; pO2 ≤ 72 mm Hg; hemoglobin > 17.50 g/dl; and hematocrit > 54%. Both cohorts showed physiological changes of transition to extrauterine life. We observed higher polycythemia, respiratory acidosis, and hypoxemia among high-altitude newborns. High-altitude setting intensifies the physiological changes in hematological and arterial blood gases parameters.

Comparación de métodos de diagnóstico para el tratamiento hemodinámico en recién nacidos y prematuros utilizando la medición de la vena cava, lactato y criterios clínicos / Comparison of diagnostic methods for hemodynamic treatment in unborn and pre-term infants using the measurement of vena cava, lactate, and clinical criteria

Introducción: no existe un criterio único para evaluar el estado hemodinámico de los recién nacidos y prematuros y las diferentes variables en el grupo de recién nacidos, como la edad gestacional, el peso al nacer y los períodos de nacimiento. Métodos: Se trata de un estudio observacional descriptivo, transversal, epidemiológico con dos cohortes de pacientes. Los recién nacidos a término y Pretérmino, atendidos en la Unidad de Neonatal del Hospital Pablo Arturo Suárez, participan durante los meses comprendidos entre Noviembre de 2019 a enero de 2020. Resultados: la medición ecográfica del flujo de la vena cava inferior (FVCI) es útil para el tratamiento de manejo del paciente neonatal hemodinámicamente inestable. La muestra estuvo conformada por 110 recién nacidos atendidos en el servicio de neonatología del Hospital Pablo Arturo Suárez desde noviembre de 2019 a enero de 2020. Quito, Pichincha, Ecuador. Las variables bajo peso al nacer y prematuridad moderada tienen un valor estadística-mente significativo para el uso de inotrópicos. Las demás variables no presentan valor esta-dísticamente significativo. La frecuencia cardíaca, el gasto urinario, la presión arterial media, el ácido láctico, el llenado capilar, el flujo de la vena cava superior y el flujo de la vena cava inferior tienen valores estadísticamente significativos. Las comparaciones de FVCI y superior (FVCS) con frecuencia cardíaca, gasto urinario, presión arterial media, ácido láctico, llenado capilar tienen un valor estadísticamente significativo, excepto para el llenado capilar >3 segundos en FCVI. Se utilizó el análisis multivariado de Componentes Principales Categóricos (CATPCA) para caracterizar el estado hemodinámico e inotrópico, que resultaron significativos en el análisis bivariado. Dimensión, uno de los gráficos bidimensionales, discrimina el uso o no de inotrópicos y las categorías de parámetros hemodinámicos TAM <35 mmHg, ácido láctico, llenado capilar, FVCI y FVCS. La dimensión dos discrimina entre las categorías de gasto urinario y FC. Conclusión: En recién nacidos a término y prematuros con bajo peso y adecuado peso al nacer con inestabilidad hemodinámica en general, que fueron evaluados con ecografía para medir el flujo de la vena cava, la concordancia entre los criterios clínicos y la valoración ecográfica del flujo fue de 0.4 cm / seg en ambos métodos. Esta situación significa que la medición de los flujos cava venosos por ecografía es útil para evaluar el estado hemodinámico de los pacientes neonatales.

Introduction: There is no single criterion available to assess the hemodynamic state of new-born in-fants and preterm infants and the different variables in the group of newborns, such as gestational age, birth weight, and periods of birth. Methods: This is an epidemiological, cross-sectional, descriptive observational study with two patient cohorts. Newborn-to-term and preterm neonates assisted at the Neonatal Unit of the Pablo Arturo Suarez Hospital participated during the months between November 2019 to January 2020. Results: Ultrasound measurement of the vena cava (FVC) flow is useful for the management treatment of hemodynamically unstable neonatal patients. The sample was made up of 110 newborns treated in the Pablo Arturo Suarez Hospital's neonatology service from November 2019 to January 2020. Quito, Pichincha, Ecuador. The variables low birth weight and moder-ate prematurity have a statistically sig-nificant value for inotropic use.The other variables do not present statistically significant values. Heart rate, urinary output, mean blood pressure, lactic acid, capillary filling, upper vena cava flow, and lower vena cava flow had statistically significant values. FVCI and FVCS comparisons with heart rate, urinary output, mean blood pressure, lactic acid, and capillary filling had statistically significant values, except for capil-lary filling >3 sec in FCVI. Multivariate analysis of categorical main components (CATPCA) was used to characterize the hemodynamic state and inotropic state, which were significant in the bivariate analysis. Dimension, one of the two-dimensional graphs, discriminates the use or not of inotropics and the categories of hemodynamic parameters TAM <35 mmHg, lactic acid, capillary filling, FVCI, and FVCS. Dimension IIdiscriminates between the categories of urinary expenditure and HR. Conclusion: In term and preterm infants with low weight and adequate birth weight with hemody-namic instability in general, who were evaluated with ultrasonography to measure the flow of the vena cava, the agreement between the clinical criteria and the ultrasound assessment of the flow was 0.4 cm/sec in both methods. This situation means that the measurement of venous cava flows by echo sonography is useful for assessing neonatal patients' hemodynamic status.

Alta concordancia en la evaluación clínica versus ultrasonido para estimar el peso fetal cuando se compara con el peso al nacer en recién nacidos a término / Higher agreement in clinical assessment versus ultrasound to estimate fetal weight when it compares with birth weight in full-term newborns / Alta concordância na avaliação clínica versus ultrassonografia para estimar o peso fetal quando comparado ao peso ao nascer em recém-nascidos a termo

Introducción: Objetivo: el objetivo es estimar el peso fetal por métodos clínicos y ecográficos y compararlo con el peso al nacer en recién nacidos a término. Métodos: Se trata de un estudio epidemiológico, observacional, transversal de una cohorte de recién nacidos a término sanos. El tamaño de la muestra fue de 102 neonatos nacidos en el Hospital Pablo Arturo Suárez, en Quito, Ecuador, de noviembre de 2019 a enero de 2020. Resultados: En neonatos a término, la estimación ecográfica fue del 80.00%, mientras que en la valoración clínica fue del 72.29%. El perfil del recién nacido analizado es hombre, mestizo, ecuatoriano, nacido en la región serrana, con una edad gestacional media de 38.67 semanas y un peso medio al nacer de 3.023 gramos, en quienes se estimó el peso fetal mediante ecografía y valoración clínica. La estimación del error absoluto en ambos métodos analizados fue 2.43% para ecografía y -4.65% para valoración clínica, y ambos mostraron concordancia moderada, 78.2% para ecografía y 85.6% para valoración clínica. El análisis multivariado mostró que los recién nacidos con peso modificado por ecografía tienen 13.44 veces más probabilidades de mostrar peso alterado al nacer, mientras que los recién nacidos con peso modificado por la evaluación clínica tienen 11.95 veces más probabilidades de mostrar peso alterado al nacer. Conclusiones: La precisión en la valoración clínica fue siempre mayor que en el método ecográfico, especialmente en los recién nacidos de bajo peso

Introduction: The aim of this trial was to estimate fetal weight by clinical and ultrasound methods and to compare with the weight at birth in full-term newborns. Methods: This is an epidemiological, observational, cross-sectional study of a cohort of healthy full-term newborns. The sample size was 102 neonates born at the Pablo Arturo Suarez Hospital, in Quito, Ecuador, from November 2019 to January 2020. Results: In full-term neonates, the estimate on ultrasound was 80.00%, while in the clinical assessment was 72.29%. The profile of newborn analyzed is man, mestizo, Ecuadorian, born in the highlands region, with a mean gestational age of 38.67 weeks and a mean birth weight of 3,023 grams, in whom it estimated the fetal weight through ultrasound and clinical assessment. The estimation of the absolute error in both methods analyzed was 2.43% to ultrasound and -4.65% to clinical assessment, and both showed moderate concordance, 78.2% to ultrasound, and 85.6% to clinical assessment. Multivariate analysis showed the neo-nates with modified weight by ultrasound are 13.44 times more likely to show altered weight at birth, while neonates with modified weight by the clinical assessment are 11.95 times more likely to show altered weight at birth. Conclusions: Accuracy in the clinical assessment was always higher than in the ultrasound method, especially in low weight newborns.

Introdução: Objetivo: estimar o peso fetal por métodos clínicos e ultrassonográficos e compará-lo com o peso ao nascer em recém-nascidos a termo. Métodos: Este é um estudo epidemiológico, observacional e transversal de uma coorte de recém-nascidos saudáveis ​​a termo. O tamanho da amostra foi de 102 neonatos nascidos no Hospital Pablo Arturo Suárez, em Quito, Equador, de novembro de 2019 a janeiro de 2020. Resultados: Em neonatos a termo, a estimativa ultrassonográfica foi de 80,00%, enquanto na avaliação clínica foi de 72,29%. O perfil do recém-nascido analisado é do sexo masculino, mestiço, equatoriano, nascido na região montanhosa, com idade gestacional média de 38,67 semanas e peso médio ao nascer de 3,023 gramas, sendo o peso fetal estimado por ultrassonografia e avaliação clínica. A estimativa do erro absoluto em ambos os métodos analisados ​​foi de 2,43% para ultrassom e -4,65% para avaliação clínica, e ambos apresentaram concordância moderada, 78,2% para ultrassom e 85,6% para avaliação clínica. A análise multivariada mostrou que os recém-nascidos com peso modificado ultrassonográfico têm 13,44 vezes mais chance de apresentar peso alterado ao nascer, enquanto os recém-nascidos com peso modificado pela avaliação clínica têm 11,95 vezes mais chance de apresentar peso alterado ao nascer. Conclusões: A precisão na avaliação clínica sempre foi maior do que no método ultrassonográfico, principalmente em recém-nascidos de baixo peso.

Proposal of a new predictive model of mortality in high-risk newborns and evaluation of its perfor-mance / Propuesta de un nuevo modelo predictivo de mortalidad en recién nacidos de alto riesgo y evaluación de su desempeño

Introducción: El objetivo del presente estudio fue establecer un modelo predictivo de mor-talidad en recién nacidos de alto riesgo. Métodos: el presente es un estudio epidemiológico, observacional y transversal, realizado en el Hospital Ginecológico Isidro Ayora, Quito, Ecuador, en 2019, incluyó 220 recién nacidos de alto riesgo. Resultados: Se incluyeron 220 Recién nacidos de alto riesgo. No existen asociaciones significativas con factores prenatales, pero sí una relación estadística con el peso, la edad gestacional, el puntaje de APGAR, las necesidades de reanimación y la presencia de anomalías congénitas; también, con shock, hemorragia pulmonar, hiperglucemia, acidosis y estancia hospitalaria. no existen asociaciones significativas con factores prenatales, pero sí una relación estadística con el peso, la edad gestacional, el puntaje de APGAR, las necesidades de reanimación y la presencia de anomalías congénitas; también, con shock, hemorragia pulmonar, hiperglucemia, acidosis y estancia hospitalaria. Conclusión: La presencia de mayor exceso de bases, mínima FiO2, choque séptico, al menos un defecto congénito, con pequeño para la edad gestacional, determina un 80% de probabilidad de muerte. Si el exceso de bases es superior a -12 mEq/L, el lactante tiene 13 veces más probabilidades de morir, y si requiere una FiO2 mínima superior al 29%, tiene 4.2 veces más probabilidades de morir. La fiabilidad del aumento de bases en exceso predice un 76,3% más de riesgo de muerte.

Introduction: The aim of this study was to establish a predictive model of mortality in high-risk newborns. Methods: An epidemiological, observational, and cross-sectional study was carried out at the Isidro Ayora Gynecological Hospital, Quito, Ecuador in 201. The study included 220 high-risk newborns. Results: No significant associations with prenatal factors were found, but a statistical rela-tionship with weight, gestational age, Appearance, Pulse, Grimace, Activity, and Respiration (APGAR) score, resuscitation needs, and the presence of congenital anomalies in addition to shock, pulmonary hemorrhage, hyperglycemia, acidosis, and hospital stay was noted. Conclusion: The presence of a more significant base excess, minimum fraction of inspired oxygen (FiO2), septic shock, and at least one congenital defect with small gestational age determined an 80% probability of death. If the base excess was > −12 mEq/L, the infant was 13 times more likely to die, and if the infant required a minimum FiO2 > 29%, the newborn was 4.2 times more likely to die. The reliability of the excess base increase predicted a 76.3% higher risk of death.

Maternal and Perinatal Factors Associated With Twin Pregnancies in Ecuador.

There are few studies on twins in Ecuador and Latin America. It requires a better understanding of perinatal conditions, especially from an ethnic perspective. This work aims to assess perinatal factors related to twin pregnancy in Ecuadorian Mestizo individuals. We performed an epidemiological, observational and cross-sectional study at the Hospital San Francisco and Hospital Nueva Aurora in Quito, Ecuador, from November 2019 to January 2020. It included 203 newborns from twin pregnancies, including mothers with and without pathological history. The average gestational age was 31 weeks, and the APGAR score at first minute was 6.86, with significant differences. Regarding the metabolic balance, the mean pH was 6.14; and bicarbonate was 11.57, with significant differences. Twins had intrauterine growth restriction in 6.9% of cases, with significant differences (p = .003); 81.4% required supplemental oxygen, with significant differences (p = .002); 93% required noninvasive mechanical ventilation (NIMV), with significant differences (p = . 003); 93% required inotropic and sedation, with substantial differences; 69% required antibiotics (≥21 days), with significant differences (p = .014); and 17.2% needed between 8 to 14 days of hospitalization, and 51% more than 28 days, with significant differences. The studied mothers' demographic profile was mostly Mestizos, with an average age of 32 years, and 93% had a poverty status. Most of the twins were diamniotic monochorial and were discordant twins. It found jaundice, premature anemia and sepsis in 100% of twins and hyaline membrane disease in 89.66% of twins. Twins of women with relevant prenatal care had more premature births (30.4 ± 2.6 weeks), more acid-base imbalance, APGAR at ≥7 min in 90% of cases, and patent ductus arteriosus in all. There was also a greater need for double intensive phototherapy than twins of healthy women.

Genetic ancestry and ethnic identity in Ecuador.

We investigated the ancestral origins of four Ecuadorian ethnic groups-Afro-Ecuadorian, Mestizo, Montubio, and the Indigenous Tsáchila-in an effort to gain insight on the relationship between ancestry, culture, and the formation of ethnic identities in Latin America. The observed patterns of genetic ancestry are largely concordant with ethnic identities and historical records of conquest and colonization in Ecuador. Nevertheless, a number of exceptional findings highlight the complex relationship between genetic ancestry and ethnicity in Ecuador. Afro-Ecuadorians show far less African ancestry, and the highest levels of Native American ancestry, seen for any Afro-descendant population in the Americas. Mestizos in Ecuador show high levels of Native American ancestry, with substantially less European ancestry, despite the relatively low Indigenous population in the country. The recently recognized Montubio ethnic group is highly admixed, with substantial contributions from all three continental ancestries. The Tsáchila show two distinct ancestry subgroups, with most individuals showing almost exclusively Native American ancestry and a smaller group showing a Mestizo characteristic pattern. Considered together with historical data and sociological studies, our results indicate the extent to which ancestry and culture interact, often in unexpected ways, to shape ethnic identity in Ecuador.

A Y-chromosomal survey of Ecuador's multi-ethnic population reveals new insights into the tri-partite population structure and supports an early Holocene age of the rare Native American founder lineage C3-MPB373.

Ecuador is a multiethnic and pluricultural country with a complex history defined by migration and admixture processes. The present study aims to increase our knowledge on the Ecuadorian Native Amerindian groups and the unique South American Y-chromosome haplogroup C3-MPB373 through the analysis of up to 23 Y-chromosome STRs (Y-STRs) and several Y-SNPs in a sample of 527 Ecuadorians from 7 distinct populations and geographic areas, including Kichwa and non-Kichwa Native Amerindians, Mestizos and Afro-Ecuadorians. Our results reveal the presence of C3-MPB373 both in the Amazonian lowland Kichwa with frequencies up to 28 % and, for the first time, in notable proportions in Kichwa populations from the Ecuadorian highlands. The substantially higher frequencies of C3-MPB373 in the Amazonian lowlands found in Kichwa and Waorani individuals suggest a founder effect in that area. Notably, estimates for the time to the most recent common ancestor (TMRCA) in the range of 7.2-9.0 kya point to an ancient origin of the haplogroup and suggest an early Holocene expansion of C3-MPB373 into South America. Finally, the pairwise genetic distances (RST) separate the Kichwa Salasaka from all the other Native Amerindian and Ecuadorian groups, indicating a so far hidden diversity among the Kichwa-speaking populations and suggesting a more southern origin of this population. In sum, our study provides a more in-depth knowledge of the male genetic structure of the multiethnic Ecuadorian population, as well as a valuable reference dataset for forensic use.

High Altitude as a Cause of Congenital Heart Defects: A Medical Hypothesis Rediscovered in Ecuador.

Background: There are ∼83 million people living at high altitude (>2500 m) worldwide who endure chronic hypoxia conditions. This article aims to analyze the relationship between high altitude, identified in several cities in Ecuador, and the prevalence of congenital heart disease (CHD). Methods: Set in Ecuador, this epidemiological observational cross-sectional study analyzes data over a range of 18 years (from 2000 to 2017), including 34,904 reported cases of CHD, with a mean of 1939 cases per year. Results: The mean prevalence rate of CHD found is 70.6 per 10,000 live newborns. A K-means analysis resulted in three clusters. Cluster 1 shows the lowest altitude and prevalence of CHD, with an average of 2619 m and 63.02 cases per 10,000 live newborns. Cluster 2 presents the second highest altitude and prevalence of CHD, with an average of 2909 m and 72.04 cases per 10,000 live newborns. Cluster 3 shows the highest values of altitude and prevalence of CHD, with an average of 3176 m and 86.62 cases per 10,000 live newborns. Pearson's coefficient is 0.979, so the correlation between the variables is positive. An altitude ranging from 2500 to 2750 m relates to a prevalence of CHD of ≤71 cases per 10,000 live newborns. An altitude ranging from 2751 to 3000 m relates to a prevalence of CHD of >71 and <89 cases per 10,000 live newborns. An altitude ranging between 3001 and 3264 m relates to a prevalence of CHD of ≥89 cases per 10,000 live newborns. Conclusions: The findings show that high altitude (>2500 m), ethnicity (Native American), rural locations, and limited access to health care are factors that influence and increase the prevalence rate of CHD. A correlation coefficient of 0.914 shows the direct relationship between high altitude and prevalence rates of CHD. For each year elapsed, the prevalence of CHD increased by 3.33 cases per 10,000 live newborns.

Diagnostic screening of HPV genotypes in 555 Ecuadorian mestizo women of seven provinces, and comparison with other Latino American populations / Tamizaje diagnóstico de genotipos de VPH en 555 mujeres mestizas ecuatorianas, de siete provincias, y comparación con otras poblaciones latinoamericanas

Objective: this paper aims to perform diagnostic screening of HPV in healthy Ecuadorian mestizo women, from seven provinces, and compare the findings with other Latin American populations. Material and methods: genotyping was done with two different oligonucleotides MY09 and MY11; a fragment of 450 base pairs was amplified,L1 region of the viral genome. Results: it analyzed 555 women, 35 were positive for HPV (6.3%). Genotypes found in relation to oncogenic risk, were 6, 11, 16, 18, 31, 33, 35, 42, 45, 51, 52, 53, 58, 59, 61, 81. 12/35 women (34.3%) presented high-risk genotypes. Four positive cases were also observed in women older than 55 years (0.36%). The 14 published studies of Ecuadorian women showed that the most prevalent genotypes are 16, 18, 31, 52, 53, 56 and 58; while in the eight Latin American Studies the most prevalent are 16, 18, 31, 45, 52 and 58. Conclusion: although there are several studies on HPV genotyping on Latin American populations, there is an important gap related to ethnicity and the prevalence of the virus. In addition, most of them have not compared similar and common subtypes in the population. The general prevalence of HPV in the studied population was 6.3%. It found that genotypes 16, 18, 31, 52, 53, 56 and 58 are the most prevalent in Ecuadorian normal mestizo women. Genotypes 53 and 56 are common in Latino populations. Larger studies, in different ethnic groups are needed to identify other prevalent genotypes in certain geographical areas..(AU)

Objetivo: realizar tamizaje diagnóstico de VPH en mujeres mestizas ecuatorianas sanas, de siete provincias, y comparar los hallazgos con otras poblaciones latinoamericanas. Material y métodos: el genotipado se realizó con dos oligonucleótidos diferentes MY09 y MY11; se amplificó un fragmento de 450 pares de bases, correspondiente a la región L1 del genoma viral. Resultados: se analizó 555 mujeres, 35 fueron positivas para VPH (6,3%). Los genotipos encontrados en relación con el riesgo oncogénico fueron 6, 11, 16, 18, 31, 33, 35, 42, 45, 51, 52, 53, 58, 59, 61, 81. 12/35 mujeres (34,3%) presentaron genotipos de alto riesgo. También se observaron cuatro casos positivos en mujeres mayores de 55 años (0,36%). Los 14 estudios publicados de mujeres ecuatorianas mostraron que los genotipos más prevalentes son 16, 18, 31, 52, 53, 56 y 58; mientras que en los ocho estudios latinoamericanos los más prevalentes son 16, 18, 31, 45, 52 y 58. Conclusión: aunque existen estudios sobre la prevalencia de VPH, aún existe una brecha sobre la relación entre la etnicidad y la prevalencia del virus. Además, los estudios en América Latina no han comparado subtipos similares y comunes en la población. La prevalencia general del VPH en la población estudiada fue del 6,3%. Este estudio encontró que los genotipos 16, 18, 31, 52, 53, 56 y 58 son los más prevalentes en las mujeres mestizas ecuatorianas sanas. Los genotipos 53 y 56 son los más comunes en las poblaciones latinas. Se necesitan estudios más grandes, en diferentes grupos étnicos para identificar otros genotipos prevalentes en ciertas áreas geográficas..(AU)

Pregnancy in adolescence and adverse neonatal outcomes in Ecuadorian mestizo newborns.

BACKGROUND: To establish the association between pregnancy in early and middle adolescence and adverse neonatal outcomes in Ecuadorian mestizo newborns. METHODS: Study design: epidemiological, observational/descriptive, and cross-sectional. SETTINGS: Gynecological and Obstetric Hospital Isidro Ayora at Quito, Ecuador, from July to October of 2018. PARTICIPANTS: this study included 303 newborns and their mothers, 101 children of adolescent mothers between 14 and 16 years old, 101 adolescents between the ages of 17 and 19, and 101 infants born to adult mothers between 20 and 34 years of age. RESULTS: There is no statistically significant association between maternal age, gestation time, neonatal morbidity and APGAR at 5 min. Neonatal morbidity is higher in adolescent mothers residing in rural areas and in these who had fewer than five prenatal check-ups. In the case of mothers with a pathological history, regardless of the area in which they resided, the highest percentages were recorded in the case of mothers of 24-30 years with five or more prenatal appointments, and in adolescent mothers from 14 to 19 years of age with fewer than five prenatal appointments. Indeed, the greater the number of prenatal evaluations the higher the percentage of pathological findings. There is a close relationship between the age of the mother and the number of prenatal check-ups performed during pregnancy. CONCLUSION: Teenage mothers have a higher percentage of neonatal morbidity in deliveries with gestational age equal to or greater than 37 weeks of gestation and AGPAR 8 and 9 at 5 min. In addition, there were a higher percentage of cases of respiratory failure and sepsis in newborns, especially when fewer than five prenatal examinations were performed. The highest percentage of identified prenatal pathological antecedents occurred in the group of mothers from 20 to 34 years old who attended more than five prenatal controls. Young pregnant women go less frequently to prenatal appointments, particularly in rural areas, and their newborns have a higher percentage of respiratory failure and sepsis.

Medición de la saturación de oxígeno durante la recepción neonatal, con el fin de establecer parámetros estándar de saturación en el Hospital Gineco Obstétrico Luz Elena Arismendi (2018 Quito) / Measurement of oxygen saturation during neonatal reception, in order to establish standard saturation parameters in the Luz Elena Arismendi Obstetric Gynecological Hospital

Propósito: este trabajo determina cuál es el rango de saturación de oxígeno preductal a gran altitud en los recién nacidos del Hospital Gineco Obstétrico Luz Elena Arismendi (Quito que está a 2800 metros sobre el nivel del mar). Metodología: es un estudio descriptivo, prospectivo, transversal, con una muestra de 31 pacientes. Se estableció el rango de saturación de oxígeno en los neonatos del Hospital Gineco Obstétrico Luz Elena Arismendi de la ciudad de Quito. Se incluyeron todos los recién nacidos que no requirieron reanimación neonatal. Resultados: la edad promedio de la madre fue de 23 años; el 80.65% de los padres nacieron en la Sierra; y 93.54 % residen en Pichincha; El 87.1 % de los pacientes evaluados fueron varones, con un promedio de peso de 2720 g. La saturación de oxígeno fue: al primer minuto 76%; a los dos minutos 78%; a los 3 y 4 minutos 81%; a los 5 minutos 87%; y a los 10 minutos de 94%. Conclusiones: el 74,2% de los niños tiene niveles de saturación en el rango normal al minuto (mayor al 65 %) y el 90,32% de pacientes a los 5 minutos de vida (mayor a 80%); a los 10 minutos todos los recién nacidos tenía una saturación de oxígeno dentro del rango normal recomendado por la AAP (mayor a 85 %).

Purpose: Our purpose with this study is to determine the range of preductal oxygen saturation at high altitude in newborns at Hospital Gineco-Obstétrico Luz Elena Arismendi (Quito which is at 2800 meters over sea level). Methodology: This is a descriptive, prospective, cross-sectional study, with a sample of 31 patients. The range of oxygen saturation was measured in neonates born in the city of Quito of Luz Elena Arismendi Gynecological Hospital. All newborns who did not require neonatal resuscitation were included. Results: The mean age of the mothers was 23 years; 80.65 % of the parents were born in the highlands; and 93.54% lived in the province of Pichincha. 87.1% of the newborn studied were male and had a mean birth weight of 2720 g. Oxygen saturation at one minute was 76%, at 2 minutes 78%, at 3 and 4 minutes 81%, at 5 minutes 87% and at 10 minutes 94%. Conclusions: 74.2% of the studied newborns had normal saturation levels at 1 minute of age (greater than 65%); 90.32% had normal saturation at 5 minutes (greater than 80%); at 10 minutes all of the patients had normal saturation levels (greater than 85%) according to AAP recommendations.

Maternal risk factors in full-term newborns with early onset sepsis related with Interleukin-6 in umbilical blood / Factores de riesgo maternos en recién nacidos a término con sepsis de aparición temprana relacionada con interleucina-6 en sangre umbilical

Objective: to determine the relationship and association of early sepsis with interleukin- 6 measured in umbilical blood, as well as gestational age and birth weight, prenatal history of the mother pathologies during pregnancy, in newborns at the Neonatology Service of Carlos Andrade Marín Hospital (Quito). Material and methods: epidemiological, observational, analytical, cross-sectional. 200 newborns were analyzed. IL-6 was determined by Elisa. Results: newborn mean gestational age 38.4±2 weeks, mean weight 2871±532.4 grams, cutoff point interleukin 6 ≤14pg/uL; male sex was 43.9%, female sex 56.1%; preeclampsia of the mother 22.4%, infection of the urinary tract during pregnancy 20.4%; vaginitis/vaginosis 19.4%; IL6 values ≤ 14 pg/uL in 63.3% of patients; IL6 values of >14 pg/uL 36.7%; relationship with sepsis in all, p<0.05; relationship of prenatal pre-maternity of the mother and neonatal sepsis, p<0.05; relationship between vaginitis/vaginosis of the mother with neonatal sepsis; p<0.05; OR: 38.88 IC95% (4.912-307.728); association between sepsis and risk factors, IL6, gestational age in weeks, weight, prenatal preeclampsia and urinary tract infection, vaginitis/vaginosis, p<0.05. Conclusion: it is concluded that there is a correlation of risk factors, such as gestational age in weeks, weight, prenatal preeclampsia, UTI prior to birth, vaginitis/vaginosis, and values of interleukin 6 ≤ 14 pg/uL. The mean gestational age was 38.4 weeks, and average weight 2871 grams in the newborns analyzed..(AU)

Objetivo: determinar la relación de sepsis temprana con interleucina 6 medida en sangre umbilical, así como la edad gestacional y el peso al nacer, antecedentes prenatales de patologías maternas durante el embarazo, en recién nacidos en el Servicio de Neonatología del Hospital Carlos Andrade Marín (Quito). Material y métodos: estudio epidemiológico, observacional, analítico, transversal. Se analizaron 200 recién nacidos. La IL-6 fue determinada por Elisa. Resultados: edad gestacional promedio del recién nacido 38.4±2 semanas, peso promedio 2871±532.4 gramos, punto de corte interleucina 6 ≤14pg/uL; el sexo masculino fue del 43,9%, el sexo femenino del 56,1%; preeclampsia de la madre 22.4%, infección del tracto urinario durante el embarazo 20.4%; vaginitis/vaginosis 19,4%; Valores promedio de IL6 ≤14 pg/uL en el 63,3% de los pacientes; valores de IL6 de> 14 pg/uL en 36.7% de pacientes; relación con sepsis en total, p<0.05; relación de la pre-maternidad prenatal de la madre y sepsis neonatal con p <0.05; relación entre vaginitis/vaginosis de la madre con sepsis neonatal con p<0.05; OR (verosimilitud): 38,88 IC95% (4.912-307.728); asociación entre sepsis y factores de riesgo, IL6, edad gestacional en semanas, peso, preeclampsia prenatal e infección del tracto urinario, vaginitis/vaginosis, p <0,05. Conclusión: se concluye que existe correlación de factores de riesgo como la edad gestacional en semanas, el peso, la preeclampsia prenatal, la infección de vías urinarias antes del nacimiento, la vaginitis/vaginosis y los valores de interleucina 6 ≤1 4 pg/uL. La edad gestacional media fue de 38,4 semanas y el peso promedio de 2871 gramos en los recién nacidos analizados..(AU)

Y Chromosome Sequences Reveal a Short Beringian Standstill, Rapid Expansion, and early Population structure of Native American Founders.

The Americas were the last inhabitable continents to be occupied by humans, with a growing multidisciplinary consensus for entry 15-25 thousand years ago (kya) from northeast Asia via the former Beringia land bridge [1-4]. Autosomal DNA analyses have dated the separation of Native American ancestors from the Asian gene pool to 23 kya or later [5, 6] and mtDNA analyses to ∼25 kya [7], followed by isolation ("Beringian Standstill" [8, 9]) for 2.4-9 ky and then a rapid expansion throughout the Americas. Here, we present a calibrated sequence-based analysis of 222 Native American and relevant Eurasian Y chromosomes (24 new) from haplogroups Q and C [10], with four major conclusions. First, we identify three to four independent lineages as autochthonous and likely founders: the major Q-M3 and rarer Q-CTS1780 present throughout the Americas, the very rare C3-MPB373 in South America, and possibly the C3-P39/Z30536 in North America. Second, from the divergence times and Eurasian/American distribution of lineages, we estimate a Beringian Standstill duration of 2.7 ky or 4.6 ky, according to alternative models, and entry south of the ice sheet after 19.5 kya. Third, we describe the star-like expansion of Q-M848 (within Q-M3) starting at 15 kya [11] in the Americas, followed by establishment of substantial spatial structure in South America by 12 kya. Fourth, the deep branches of the Q-CTS1780 lineage present at low frequencies throughout the Americas today [12] may reflect a separate out-of-Beringia dispersal after the melting of the glaciers at the end of the Pleistocene.

Standardized clinical criteria and sweat test combined as a tool to diagnose Cystic Fibrosis.

CONTEXT: CF is under-diagnosed in Ecuador; one out of every 11,252 live births born in Ecuador could have CF. AIM: To analyze the clinical findings, based on previously established criteria, with the results of the sweat test, in circumstances where we do not have the routine molecular study. METHODS: Epidemiological, observational, analytic, cross-sectional study. It analyzed 180 patients clinically suspected of CF. Inclusion criteria: children of both sexes older than 30 days and younger than 12 years, who meet at least three clinical criteria suggestive for CF, outpatient and referred by a specialist physician who made a preliminary diagnosis. This is a pilot study. RESULTS: The combination of criteria pneumonia, chronic cough and chronic obstructive bronchial syndrome is the most frequent, with not a significant relationship with a positive sweat test. On the contrary, a significant relationship was found between the clinical combinations of pneumonia with cough and rhinosinusitis; pneumonia with cough; presence of Pseudomonas aeruginosa; and pneumonia with digital cough and clubbing, so it is recommended to perform the test in all these associations. The most frequent clinical criterion for the reference and performance of the electrolyte test in sweat is pneumonia to repeat for two or more episodes. CONCLUSION: Clinical combinations of pneumonia with cough and rhinosinusitis; pneumonia with cough; presence of Pseudomonas aeruginosa; and pneumonia with digital cough and clubbing are pathognomonic for CF and indication for the sweat test. The predictive performance in CF diagnosis, defined as compatible clinical presence plus high values of chloride in sweat test, was 91.1%.

The delay in the start time of classes significantly increases adolescent performance, a reflection for Public Health in Ecuador: a narrative review

Contexto: en el Ecuador no existen estudios publicados sobre las horas de sueño por grupos de edad u horarios de inicio de clases enfocados al rendimiento académico de la población, en especial adolescentes. Discusión: al recopilar los datos de estudios realizados en niños y adolescentes, se demuestra que los adolescentes necesitan dormir lo suficiente para funcionar bien a diario y mejorar los efectos cognitivos que se presentan por la falta de sueño. Considerando solo el 14% al 27% de los adolescentes duermen más de 9 horas en las noches escolares, y peor aún, hasta el 25% duermen menos de 6 horas, no es sorprendente que la mayoría de los adolescentes se despierten sintiéndose cansados. Se recomienda planificar las horas de sueño con los padres, horario de tareas en casa y horarios de actividad física, para entrenar la mente y tener una buena higiene del sueño Conclusión: el retraso de la hora de inicio de clases aumenta notablemente el desempeño en los adolescentes, por lo cual se debe cambiar las políticas públicas para permitir que la hora de ingreso a clases sea pasada las 9:00 horas.

Context: In Ecuador, there are no published studies on the hours of sleep by age groups, or start times of classes focused on the academic performance of the population, especially adolescents. Discussion: When collecting data from studies conducted in children and adolescents, adolescents need enough sleep to function well daily, and improve the cognitive effects that occur due to lack of sleep. Considering that only 14% to 27% of adolescents sleep more than 9 hours on school nights, and worse, up to 25% sleep less than 6 hours, it is not surprising that most adolescents wake up feeling tired. It recommends to plan the sleep hours with parents, homework schedule, and physical activity schedules, to train the mind and have good sleep higiene Conclusion: The delay of the start time of classes significantly increases the performance in adolescents, so public policies have be changed to allow the time of entry to classes to be past 9 am.