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.

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

Introduction: is a highly polymorphic gene responsible for metabolizing commonly used drugs. (loss of activity alleles) and (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 alleles could be different among them.

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.

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.

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.

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.

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.

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.

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.

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.

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

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). 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.

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.

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.

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.

[Domiciliary intervention by occupational therapy after hospital discharge in order to prevent re-admission in the elderly: Study protocol for a randomised clinical trial].

Background And Objective: Re-admission to hospital by the elderly is a frequent event that is associated with complications. The aim of this article is to describe a randomised clinical trial protocol which has the aim of describing and comparing the impact of a home-based intervention by Occupational Therapists (OT) in the likelihood of re-admission at 6 months.

Material And Method: Randomised controlled trial conducted in medical units of the "Hospital Clínico de la Universidad de Chile" and "Hospital de la Fuerza Aérea de Chile", with 217 patients aged 60 years or older admitted for acute or decompensated chronic disease, provided that they have a person of reference after hospital discharge.

Is pulse oximetry helpful for the early detection of critical congenital heart disease at high altitude?

Objective: To assess the pulse oximetry as a method for screening critical congenital heart disease (CHD) in newborns.

Study Design: This is an observational, transversal, descriptive simple study. The pre-ductal and postductal saturation were taken in term newborns that fulfilled the criteria of inclusion and exclusion in the Hospital Gineco-Obstetrico Isidro Ayora (HGOIA) in Quito.

Gallbladder duplication and cholecystitis.

Cholecystitis is a common gallbladder pathology characterized by abdominal pain, positive Murphy sign and elevated white blood count. Abdominal ultrasound usually gives a definite diagnosis. Duplication of the gallbladder is a rare congenital anomaly that can either be asymptomatic or and can present with symptoms associated with cholelithiasis, cholecystitis, cholangitis or pancreatitis.

Analysis of ancestry informative markers in three main ethnic groups from Ecuador supports a trihybrid origin of Ecuadorians.

Ancestry inference is traditionally done using autosomal SNPs that present great allele frequency differences among populations from different geographic regions. These ancestry informative markers (AIMs) are useful for determining the most likely biogeographic ancestry or population of origin of an individual. Due to the growing interest in AIMs and their applicability in different fields, commercial companies have started to develop AIM multiplexes targeted for Massive Parallel Sequencing platforms.

Admixture and genetic relationships of Mexican Mestizos regarding Latin American and Caribbean populations based on 13 CODIS-STRs.

Short tandem repeats (STRs) of the combined DNA index system (CODIS) are probably the most employed markers for human identification purposes. STR databases generated to interpret DNA profiles are also helpful for anthropological purposes. In this work, we report admixture, population structure, and genetic relationships of Mexican Mestizos with respect to Latin American and Caribbean populations based on 13 CODIS-STRs.

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.

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.

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.

Typing of Amerindian Kichwas and Mestizos from Ecuador with the SNPforID multiplex.

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.

Differences between Spaniards and Ecuadorians in CYP2A6 allele frequencies: comparison with other populations.

This study was designed to investigate the potential differences between Spaniards and Ecuadorian Mestizo people regarding CYP2A6*1A, CYP2A6*1B1, CYP2A6*1x2A, CYP2A6*9A, and CYP2A6*4A variant alleles at the CYP2A6 gene and also to compare the observed frequencies with those previously reported in different ethnic groups. DNA from 234 Spaniard and 300 Ecuadorian subjects were analyzed by either PCR or PCR-restriction fragment length polymorphism. Differences between Spaniards and Mestizo Ecuadorians were detected in relation to the frequencies of the alleles linked to either absent enzyme activity, CYP2A6*4A (4 and 7.