Demographic, Functional, and Risk Factors Characterization in Ecuadorian Mestizo Patients With Microtia: A Retrospective Study.

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.

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.

Continent-wide decoupling of Y-chromosomal genetic variation from language and geography in native South Americans.

Numerous studies of human populations in Europe and Asia have revealed a concordance between their extant genetic structure and the prevailing regional pattern of geography and language. For native South Americans, however, such evidence has been lacking so far. Therefore, we examined the relationship between Y-chromosomal genotype on the one hand, and male geographic origin and linguistic affiliation on the other, in the largest study of South American natives to date in terms of sampled individuals and populations. A total of 1,011 individuals, representing 50 tribal populations from 81 settlements, were genotyped for up to 17 short tandem repeat (STR) markers and 16 single nucleotide polymorphisms (Y-SNPs), the latter resolving phylogenetic lineages Q and C. Virtually no structure became apparent for the extant Y-chromosomal genetic variation of South American males that could sensibly be related to their inter-tribal geographic and linguistic relationships. This continent-wide decoupling is consistent with a rapid peopling of the continent followed by long periods of isolation in small groups. Furthermore, for the first time, we identified a distinct geographical cluster of Y-SNP lineages C-M217 (C3*) in South America. Such haplotypes are virtually absent from North and Central America, but occur at high frequency in Asia. Together with the locally confined Y-STR autocorrelation observed in our study as a whole, the available data therefore suggest a late introduction of C3* into South America no more than 6,000 years ago, perhaps via coastal or trans-Pacific routes. Extensive simulations revealed that the observed lack of haplogroup C3* among extant North and Central American natives is only compatible with low levels of migration between the ancestor populations of C3* carriers and non-carriers. In summary, our data highlight the fact that a pronounced correlation between genetic and geographic/cultural structure can only be expected under very specific conditions, most of which are likely not to have been met by the ancestors of native South Americans.

Genetic polymorphisms of CYP2C8, CYP2C9 and CYP2C19 in Ecuadorian Mestizo and Spaniard populations: a comparative study.

This study was designed to investigate the potential differences between Spaniards and Ecuadorian Mestizo people regarding CYP2C8, CYP2C9, and CYP2C19 genetic polymorphisms. DNA from 282 Spaniard and 297 Ecuadorian subjects were analyzed by either a previously reported pyrosequencing method (CY2C8*3, CYP2C9*2, CYP2C9*3, CYP2C19*2 and CYP2C19*3) or a nested PCR technique (CYP2C19*17). Whereas CYP2C19*17 allele distribution was higher in Ecuadorians than in Spaniards (P < 0.001) and the frequency of CYP2C19*3 was similar in these two populations (P > 0.05), the other allelic variants were detected at significantly lower frequencies in Ecuadorians than in Spaniards (P < 0.05). According to the diplotype distributions, the prevalence of the presumed CYP2C9 and CYP2C8 extensive metabolizers was higher in Ecuadorians than in Spaniards (P < 0.05). Individuals genotyped CYP2C19*1/*17 and *17/*17 who were considered as ultrarapid metabolizers were overrepresented in Ecuadorians in relation to Spaniards (P < 0.001). By contrast, among Ecuadorians no poor metabolizers (PMs) of either CYP2C8 or CYP2C9 were found and only two individuals were CYP2C19 PMs. These data are compatible with a higher CYP2C8, CYP2C9, and CYP2C19 activity in Mestizo Ecuadorians as opposed to Spaniards, which could imply differences in dosage requirements for drugs metabolized by these cytochromes and should also be considered in allele-disease association studies.

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.

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.

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.

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.

Mitochondrial diversity in Amerindian Kichwa and Mestizo populations from Ecuador.

This study presents mitochondrial DNA (mtDNA) data from 107 unrelated individuals from two of the major ethnic groups in Ecuador: Amerindian Kichwas (n = 65) and Mestizos (n = 42). We characterized the diversity of the matrilineal lineages of these Ecuadorian groups by analyzing the entire mtDNA control region. Different patterns of diversity were observed in the two groups as result of the unique historical and demographic events which have occurred in each population. Higher genetic diversity values were obtained for the Mestizo group than for the Amerindian group. Interestingly, only Native American lineages were detected in the two population samples, but with differences in the haplogroup distribution: Kichwa (A, 49%; B, 3%; C, 8%; and D, 40%) and Mestizo (A, 33%; B, 33%; C, 10%; and D, 24%). Analysis of the complete mtDNA control region proved to be useful to increase the discrimination power between individuals who showed common haplotypes in HVSI and HVSII segments; and added valuable information to the phylogenetic interpretation of mtDNA haplotypes.

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.

PopAffiliator: online calculator for individual affiliation to a major population group based on 17 autosomal short tandem repeat genotype profile.

Because of their sensitivity and high level of discrimination, short tandem repeat (STR) maker systems are currently the method of choice in routine forensic casework and data banking, usually in multiplexes up to 15-17 loci. Constraints related to sample amount and quality, frequently encountered in forensic casework, will not allow to change this picture in the near future, notwithstanding the technological developments. In this study, we present a free online calculator named PopAffiliator ( http://cracs.fc.up.pt/popaffiliator ) for individual population affiliation in the three main population groups, Eurasian, East Asian and sub-Saharan African, based on genotype profiles for the common set of STRs used in forensics. This calculator performs affiliation based on a model constructed using machine learning techniques. The model was constructed using a data set of approximately fifteen thousand individuals collected for this work. The accuracy of individual population affiliation is approximately 86%, showing that the common set of STRs routinely used in forensics provide a considerable amount of information for population assignment, in addition to being excellent for individual identification.

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.

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.

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.

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.

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.

CYP3A5 3, CYP3A4 1B and MDR1 C3435T genotype distributions in Ecuadorians.

Polymorphisms in CYP3A genes, such as CYP3A5} and CYP3A4, as well as in the MDR1 gene, which encodes for P-glycoprotein, have been implicated as genetic markers in several disorders. Differences in the frequency distribution of the allelic variants CYP3A5 3, CYP3A4 1B, and MDR1 3435T have been demonstrated between distinct ethnic groups. In this study we examined the frequency of these allelic variants in 317 healthy Mestizo individuals from Ecuador and made comparisons with results reported in the literature. The genotypes were determined by PCR-RFLP. Allele and genotype differences were studied by chi-square test. The MDR1 T allele frequency was similar to that of Spaniard or Asian populations, which is consistent with the ethnic origin of Ecuadorian Mestizo individuals (Amerindian and Spaniard Caucasians). By contrast, the CYP3A5 3 allele frequency was significantly lower in Ecuadorians than in Spaniards and other white populations and higher than in Central Americans, Asians and blacks. CYP3A4 1B was more common in Ecuadorians than in Caucasian or Asian populations but less present than in blacks. The differences in the polymorphism found in this work should be considered in allele-disease association studies.

Y-chromosome STR haplotypes in three different population groups from Ecuador (South America).

POPULATIONS: Over 102 unrelated Mestizos, 102 Native Amerindian (Kichwas), and 102 African Americans who represent the three largest communities of the country Ecuador (South America).

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%.