Fabricio González-Andrade

Central University of Ecuador | UCE · Unidad de Medicina Traslacional Facultad de Ciencias Médicas

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...

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...

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, c...

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 signal...

Cervical cancer is considered a public health problem, es�pecially in the indigenous communities of Ecuador, where there are few epidemiological studies about cervical cancer and its relationship with risk factors, lifestyles and infections associated with the Papilloma Virus (HPV). The objective of the study was to correlate risk factors and li...

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...

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) a...

It is unknown if there is a difference between preterm infants with a history of receiving pulmonary corticosteroid maturation or using an additional rescue dose of corticosteroid. This paper aims to determine the difference between infants with pulmonary maturation and infants who received a rescue dose of corticosteroid. We performed an epidemiol...

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 i...

Background: The diagnostic and interventional cardiac catheterization can be summarized as: valvular heart disease; septum defects; vascular obstructions; fistulas and collateral vessels, residual lesions and dehiscence of the surgical wound. In general, the approach could be reduced to two groups of interventions: those that require correction of...

Aim: This paper aims to describe CHD in well-characterized syndromes and update the possible causes of genetic origin. Discussion: According to etiology in more than 50% of cases is unknown. Genes contribute to ~ 45% of cases of sporadic and syndromic CHD. De novo point mutations collectively contribute ~10% of severe CHD. In familial CHD with thr...

Context: There is a growing amount of evidence suggesting that specific medication responses can be linked to everyone’s genetic makeup. The advent of fast genomics and more accurate genetics has only fueled the research in understanding that link. This situation has opened exciting research fields, namely, pharmacogenetics and pharmacogenomics. St...

Aim: This paper aims to analyze the EPHF in MG in Ecuador as a framework for integrating it into clinical practice. It also aims to contribute to the scientific and social debate on the MG role, considering it the most advanced science field today. Context: the Essentials Public Health Functions (EPHF) are actions for specific purposes necessary to...

Introducción: El objetivo del presente estudio fue establecer un modelo predictivo de mortalidad 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 in...

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 Hospit...

Objectives Late preterm infants have a higher risk of early childhood developmental problems than full-term. They usually present subtle neurodevelopmental disabilities that could appear in middle and long-term time. This paper aims to determine differences in child neurodevelopment, in full-term infants and late preterm infants in Ecuadorian Mesti...

This paper aims to identify hemodynamic and echocardiographic standards in pediatric patients in the Emergency Department. The study design is epidemiological, observational, and cross-sectional. The study was carried out in the Emergency Department of the Baca Ortiz Pediatric Hospital, Quito, Ecuador. Inclusion criteria included pediatric patients...

Background: In the last years, there has been a great migratory flow to Ecuador. Purpose: To determine if there are differences in the morbidity of children born of immigrant mothers or local mothers. Methods: epidemiological, observational, cross-sectional study, with two cohorts of patients, newborns from immigrant mothers, and local mothers. 220...

To estimate the prevalence of CHD in Ecuador using the data available on national prevalence discharges—a population-based retrospective cohort study. Ecuador, conducted from 2000 to 2017. It reports 34,904 cases in 18 years, with a mean of 1939 cases discharged by year. It analyzed the ICD-10 codes Q20 to Q28. The five most common findings by a gr...

Congenital syphilis represents a public health problem. Despite the increases in prenatal care coverage, the actions implemented still show low effectiveness in their prevention. An epidemiological, observational, cross-sectional study is presented, in which data were obtained from the National Institute of Statistics and Censuses (INEC) with the p...

Antecedentes: esta es la primera vez en el mundo que la variante NM_000152 (GAA_V001): c.1555A˃G; p. (Met519Val), se describe en una mujer adulta, desencadenada por el embarazo. Es una mutación sin sentido por sustitución, homocigótica, probablemente patógena. Reporte del caso: se trata de una mujer adulta mestiza, nacida y residente en Ecuador, q...

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-...

Objectives To determine neurodevelopmental disorders at 3 years of age in two cohorts of premature infants with at least two comorbidities and weigh less than 1500 g, applying the neurodevelopmental scales EDI and Brunet-Lezine. Methods Epidemiological study, observational study, and cross-sectional study were performed at Neonatology Service of t...

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 c...

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 g...

The aim of this study is to assess thyroid function in newborns with early and late neonatal sepsis by measuring T3, T4, and TSH. This study included 80 newborns with a diagnosis of neonatal sepsis divided into two groups: early neonatal sepsis and late neonatal sepsis, which during the clinical and laboratory manifestations of sepsis showed change...

It is estimated that there are around 83 million people living at high altitudes; over 2500 meters above sea level (masl) worldwide. In various high-altitude locations in the world-namely, Andean (highlands), Tibetan, and Ethiopian populations have lived under chronic hypoxia conditions for thousands of years. From those, groups who have been resid...

Objective: 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....

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...

Background: 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 full-term newborns at the Neonatology Service of Carlos Andrade Marín Hospital (Quito). Subjects and methods: epidemiol...

Contexto: La FQ no está diagnosticada en Ecuador; uno de cada 11,252 nacidos vivos nacidos en Ecuador podría tener FQ. Objetivo: Analizar los hallazgos clínicos, basados en criterios previamente establecidos, con los resultados de la prueba de sudoración, en circunstancias en las que no contamos con el estudio molecular de rutina. Métodos: Estudio...

Context: biomedical or medical research ends in a written publication, which represents the basis for future research, or the link in a chain of knowledge production. Objective: to carry out a historical, chronological analysis of the biomedical journals in Ecuador, and their evolution to the present day, as well as to identify the strengths and we...

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-...

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...

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‐Obstet...

Abstract Context: the variability of the response to drugs focuses on the variation of genes that code for metabolizing enzymes such as cytochrome P450 and enzymes of drugs in phase II as the molecular receptors of signal transduction. These include three genes of the cytochrome P450 family, CYP2D6, CYP2C19 and CYP2C9. Ethnicity, and therefore ance...

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, ch...

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 sufici...

Resumen: Contexto: el cáncer ha tomado extrema importancia en la población ecuatoriana, debido al rápido aumento de las tasas de incidencia y de mortalidad; implica que el Sistema Nacional de Salud debe responder a las necesidades de los afectados por cáncer. Es imperioso disponer del talento humano suficiente en lo relacionado a diagnóstico, trat...

PUNTOS CLAVE 1. Según Orphanet el Síndrome de Klippel-Trénaunay-Weber tiene una prevalencia desconocida y hasta ahora se han documentado unos 1.000 casos aproximadamente en todo el mundo. 2. Esta enfermedad no causa letalidad pero se asocia en el 100% de los pacientes a discapacidad física, además tiene una alta morbilidad asociada por complicacio...

Objective: it is proposed to identify and review potential strategies that include a multifaceted approach when dealing with obesity in school children. According to the most recent evidence, the most effective interventions to combat childhood obesity are those that involve physical activity, nutrition education, and supportive environments. Thus,...

Aim: to analyze the quality of sleep with the total Pittsburgh Sleep Quality Index PSQI, among the first and last year students of the medical school. Methods: epidemiologic, observational, and cross-sectional with two cohorts of individuals, performed at the Faculty of Medical Sciences at Central University of Ecuador, in Quito, Ecuador, during 20...

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 a...

To evaluate scientific activity, the current trend is to use the impact factor, a bibliographic index of the Institute for Scientific Information (ISI), published annually in the Science Citation Index through of the JCR (Journal Citation Reports), to stratify the scientific production and quality of the journals in circulation based on their visib...

Este es un breve relato sobre la revista más antigua del Ecuador en el campo científico y médico. Este relato histórico habla sobre la visión actual de los manuscritos científicos en el mundo, la historia de la revista, y la revista en nuestros días. La FCM ha publicado a lo largo del tiempo las revistas tituladas Archivos de la Facultad de Ciencia...

La genética médica en el Ecuador aún se encuentra en fase de desarrollo y requiere una consciencia nacional para su crecimiento1. Las primeras publicaciones sobre genética en el país se realizaron entre 1915 y 1922 y versaron sobre la herencia patológica y sobre el síndrome de Down. Para 1984, la genética iniciasu actividad como especialidad médica...

La medicina de precisión, la farmaco-genómica, y las variaciones étnicas poblacionales La medicina de precisión, la fármaco-genómica y las variaciones étnicas poblacionales Capítulo: 8

To evaluate scientific activity, the current trend is to use the impact factor, a bibliographic index of the Institute for Scientific Information (ISI), published annually in the Science Citation Index through of the JCR (Journal Citation Reports), to stratify the scientific production and quality of the journals in circulation based on their visib...

Editorial ¿Qué hace a los ecuatorianos modernos diferentes de otros individuos en el planeta? Somos como el "café con leche"… unos con más café y otros con más leche (del autor) Resumen: Este es un breve análisis que pretende contestar a la pregunta ¿que hace a los ecuatorianos modernos diferentes de otros individuos? y, por lo tanto, como podríamo...

La integración de la acupuntura en la práctica médica occidental: una reflexión para la Salud Pública en Ecuador. En el Ecuador no se han publicado estudios sobre el uso de la acupuntura en la población, ade-más no existen datos exactos de cuantas institu-ciones públicas y privadas ofrecen este servicio de salud. Sin embargo, se conoce que en el Ec...

Introducción Las super bacterias o superbugs son cepas de bacterias resistentes a varios tipos de antibióticos. En el 2.013, el Centro para el Control y la Prevención de Enfermedades (CDC) estimó que estas bacterias resistentes a los medicamentos infectaron al menos a 2´049.442 personas, y causaron al menos 23.000 muertes. 1-5 El costo económico to...

Editorial de la Revista de la Facultad de Ciencias Médicas (Quito)

Aim: the aim of this paper is analyze the STIs prevalence in hospitalized patients to identify major epidemiological issues in these diseases. Material and methods: this is an observational and retrospective study that analyzes the data and epidemiological information on STIs reported in Ecuador since 2001 until 2008. The data arise from the Nation...

Resumen: El Ministerio de Salud Pública (MSP) de Ecuador venía utilizando protocolos de atención clínica como instrumentos de rectoría, regulación y control de la calidad de la práctica profesional, sustentada fundamentalmente en la experiencia y el juicio personal. Desde el 2012, se inicia un proceso integral de re-estructuración y sistematización...

Tratar de predecir el futuro es un arte que aún nadie consigue. Sin embargo, se podría predecir los cambios que se aproximan, en la práctica de la medicina en el futuro mediato, sobre la base del desarrollo científico y tecnológico de los últimos años. Este breve ensayo pretende realizar un análisis sobre la incorporación de nuevos conocimientos en...

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...

Resumen Propósito: Establecer la existencia o no de deficiencia de ácido fólico, en mujeres que acudieron por atención del parto a los hospitales públicos de la red del Ministerio de Salud, de las provincias de Azuay, Guayas, Los Ríos, Manabí, Pastaza, Pichincha y Santo Domingo de los Tsachilas. Material y métodos: Es un estudio transversal realiza...

Background: Orofacial clefts are one of the most common human malformations worldwide and comprise cleft lip (CL), cleft palate (CP), and cleft lip with cleft palate (CLP) phenotypes. Objective: To analyze the clinical features and genetics in Ecuadorian children patients with orofacial clefts. Design: Observational, cross-sectional, cases series s...

Geographic clustering of sampling sites. Sampling sites were assigned to two types of geography-based cluster. Fine clustering A: A1 (“Patagonia”), A2 (“Central South America”), A3 (“El Beni/Rondonia”), A4 (“Northwest South America”), A5 (“Northern Amazon”) and A6 (“Southern Amazon”). Broad clustering B: B1 (“Highland”), B2 (“North Lowland”) and B3...

Spatial autocorrelation analysis within geographic clusters. Spatial autocorrelation analyses were carried out separately for each geographic cluster. Please refer to main text for cluster definition and Figure S2 and Table S1 for cluster assignment of sampling sites. Top: fine clustering A; bottom: broad clustering B; filled circles: significant a...

Median-joining network of 977 South American Y-STR haplotypes carrying Y-SNP haplogroup Q (data from this publication). The median–joining network was based upon markers DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393 (see Materials and Methods for details). Color coding according to geography-based fine clustering A. (PDF)

Median-joining network of 977 South American Y-STR haplotypes carrying Y-SNP haplogroup Q (data from this publication). Color coding according to geography-based broad clustering B (see Figure S4 for more details). (PDF)

European sampling sites from the Y Chromosome Haplotype Reference Database (YHRD). For each European sampling site used in the comparative AMOVA analysis of European Y-chromosomal genetic diversity, its geographic location and its assignment to six broad geographic regions is depicted. (PDF)

Migration rate distribution under scenario AA. Shown are the prior and ABC-derived posterior distributions of migration rates under scenario AA. In this scenario, all individuals of the two sampling sites with C3* carriers were merged into one population (SA/C+) and all remaining individuals were merged (SA/C−) together with all Q* carriers from tw...

Sampling site characteristics. For each site, the sample size, geographic location, tribal and linguistic assignment and haplotype characteristics are given. (DOCX)

Y-SNP haplogroup and language group. Cross-tabulation of haplogroup of carried haplotype vs group of spoken language per individual. Results are based on all 1011 samples. (DOCX)

Language group per sampling site. Groups of spoken language at each sampling site. Language classification follows Ruhlen [44]. Yellow: Andean languages; green: Chibchan-Paezan languages; red: Equatorial-Tucanoan languages; blue: Ge-Pano-Carib languages; pink: Wao-Tiriro isolate. (PDF)

Y-SNP subgroups to C3* and Q*. Updated human Y-chromosomal haplogroup tree according to [65]. Where available, RefSeq numbers (according to NCBI dbSNP build37.3) of haplogroup-defining SNPs are given in parentheses. (PDF)

Mutation rate estimates for Y-STRs studied. For each marker, the average mutation rate used in this study in this study is given according to http://www.yhrd.org/Research/Loci (release 42, January 11, 2013). (DOCX)

European sampling sites for comparative analysis. For each sampling site that has been used in the comparative analysis with South-America, the country and region of origin as well as its geographic position, its regional assignment following [7] and the sample size are given. Sites from cities with more than 500,000 inhabitants were not included i...

Haplotypes of all included C3* reference samples from the literature. (XLS)

Median-joining network of 977 South American Y-STR haplotypes carrying Y-SNP haplogroup Q (data from this publication). Color coding according to haplogroup (see Figure S4 for more details). (PDF)

Median-joining network of 977 South American Y-STR haplotypes carrying Y-SNP haplogroup Q (data from this publication). Color coding according to language classification following Ruhlen [44] (see Figure S4 for more details). (PDF)

Migration rate distribution under scenario SA. Shown are the prior and ABC-derived posterior distributions of migration rates under scenario SA. In this scenario, all individuals of the two sampling sites with C3* carriers were merged into one population (SA/C+) and all remaining individuals were merged into a single second population (SA/C−; see M...

Migration rate distribution under scenario SA-10x. Shown are the prior and ABC-derived posterior distributions of migration rates under scenario SA. In this scenario, all individuals of the two sampling sites with C3* carriers were merged into one population (SA/C+) and all remaining individuals were merged into a single second population (SA/C−; s...

Migration rate distribution under scenario AA-10x. Shown are the prior and ABC-derived posterior distributions of migration rates under scenario AA. In this scenario, all individuals of the two sampling sites with C3* carriers were merged into one population (SA/C+) and all remaining individuals were merged (SA/C−) together with all Q* carriers fro...