Browsing by Author "Pozo Palacios, Juan Carlos"

Now showing 1 - 10 of 10

Análisis espacial de anomalías congénitas en menores de 1 año atendidos en Ecuador de 2015 – 2019: distribución con relación a zonas agrícolas, mineras y petroleras
(Universidad de Cuenca, 2021-11-22) Pozo Palacios, Juan Carlos; Zamora Acosta, Giannina Elizabeth
Congenital anomalies are a group of disorders of variable etiology and heterogeneous nature, present in 6% of births worldwide. The objective of this study was to analyze the spatial distribution of congenital anomalies in children under 1 year old, attended in health units in Ecuador, and their relationship with residence in areas of mining, oil and agro-industrial exploitation, in the period 2015-2019. A critical epidemiological study was carried out that allowed the analysis of extractive contamination and agricultural production, and the presence of malformations using the critical processes matrix, which is a tool for analyzing the movement of social determination of health. The research used a descriptive analysis, modeling and distribution of clusters of care records for children under 1 year of age in units of the Ministry of Health, during the years 2015 to 2019, and a socio-environmental and geographical analysis of the critical processes of environmental contamination in the equator. The results show that the distribution of each group of congenital anomalies varies between the provinces and cantons of Ecuador and increases in places with greater extractive exploitation and industrial agricultural production. Ecuador is a scenario where epidemiological and spatial expressions of the capitalist model are manifested, which conditions critical socio-epidemiological and environmental processes. The productive nature of exploitation is due to a discriminatory and exclusive social order, which results in evident contrasts in the levels of exposure and the consequent incidence of congenital defects in the child population.
Experiences of the molecular diagnosis of fragile X syndrome in Ecuador
(2021) Lopez Caceres, Andrea Del pilar; Pozo Palacios, Juan Carlos; Llamos Paneque, Arianne; Rivas, Christian; Onofre, Emily; Villareal, Jennifer
Fragile X syndrome (FXS) is the most common cause of hereditary intellectual disability and the second most common cause of intellectual disability of genetic etiology. This complex neurodevelopmental disorder is caused by an alteration in the CGG trinucleotide expansion in fragile X mental retardation gene 1 (FMR1) leading to gene silencing and the subsequent loss of its product: fragile X mental retardation protein 1 (FMRP). Molecular diagnosis is based on polymerase chain reaction (PCR) screening followed by Southern blotting (SB) or Triplet primer-PCR (TP-PCR) to determine the number of CGG repeats in the FMR1 gene. We performed, for the first time, screening in 247 Ecuadorian male individuals with clinical criteria to discard FXS. Analysis was carried out by the Genetics Service of the Hospital de Especialidades No. 1 de las Fuerzas Armadas (HE-1), Ecuador. The analysis was performed using endpoint PCR for CGG fragment expansion analysis of the FMR1 gene. Twenty-two affected males were identified as potentially carrying the full mutation in FMR1 and thus diagnosed with FXS that is 8.1% of the sample studied. The average age at diagnosis of the positive cases was 13 years of age, with most cases from the geographical area of Pichincha (63.63%). We confirmed the familial nature of the disease in four cases. The range of CGG variation in the population was 12–43 and followed a modal distribution of 27 repeats. Our results were similar to those reported in the literature; however, since it was not possible to differentiate between premutation and mutation cases, we can only establish a molecular screening approach to identify an expanded CGG repeat, which makes it necessary to generate national strategies to optimize molecular tests and establish proper protocols for the diagnosis, management, and follow-up of patients, families, and communities at risk of presenting FXS. Copyright © 2021 Pozo-Palacios, Llamos-Paneque, Rivas, Onofre, López-Cáceres and Villareal.
Experiences of the molecular diagnosis of fragile X syndrome in Ecuador
(2021) Pozo Palacios, Juan Carlos; Llamos Paneque, Arianne; Rivas, Christian; Onofre, Emily; Lopez Caceres, Andrea Del pilar; Villareal, Jennifer
Fragile X syndrome (FXS) is the most common cause of hereditary intellectual disability and the second most common cause of intellectual disability of genetic etiology. This complex neurodevelopmental disorder is caused by an alteration in the CGG trinucleotide expansion in fragile X mental retardation gene 1 (FMR1) leading to gene silencing and the subsequent loss of its product: fragile X mental retardation protein 1 (FMRP). Molecular diagnosis is based on polymerase chain reaction (PCR) screening followed by Southern blotting (SB) or Triplet primer-PCR (TP-PCR) to determine the number of CGG repeats in the FMR1 gene. We performed, for the first time, screening in 247 Ecuadorian male individuals with clinical criteria to discard FXS. Analysis was carried out by the Genetics Service of the Hospital de Especialidades No. 1 de las Fuerzas Armadas (HE-1), Ecuador. The analysis was performed using endpoint PCR for CGG fragment expansion analysis of the FMR1 gene. Twenty-two affected males were identified as potentially carrying the full mutation in FMR1 and thus diagnosed with FXS that is 8.1% of the sample studied. The average age at diagnosis of the positive cases was 13 years of age, with most cases from the geographical area of Pichincha (63.63%). We confirmed the familial nature of the disease in four cases. The range of CGG variation in the population was 12–43 and followed a modal distribution of 27 repeats. Our results were similar to those reported in the literature; however, since it was not possible to differentiate between premutation and mutation cases, we can only establish a molecular screening approach to identify an expanded CGG repeat, which makes it necessary to generate national strategies to optimize molecular tests and establish proper protocols for the diagnosis, management, and follow-up of patients, families, and communities at risk of presenting FXS. Copyright © 2021 Pozo-Palacios, Llamos-Paneque, Rivas, Onofre, López-Cáceres and Villareal.
Negative correlation between altitude and COVID-19 pandemic in Colombia: a preliminary report
(2020) Cano Pérez, Eder; Torres Pacheco, Jaison; Fragozo Ramos, María Carolina; Garcia Diaz, Genesis Daniela; Montalvo Varela, Eduardo Luis; Pozo Palacios, Juan Carlos
It has been suggested that high altitude can reduce the infectivity and case fatality rate of COVID-19. We investigated the relationship between altitude and the COVID-19 pandemic in Colombia. Epidemiological data included the number of positive cases, deaths, and the case fatality rate of COVID-19. In particular, we analyzed data from 70 cities with altitudes between 1 and 3,180 m. Correlations and linear regression models adjusted to population density were performed to examine the relationship and contribution of altitude to epidemiological variables. The case fatality rate was negatively correlated with the altitude of the cities. The incidence of cases and deaths from COVID-19 had an apparent correlation with altitude; however, these variables were better explained by population density. In general, these findings suggest that living at high altitude can reduce the impact of COVID-19, especially the case fatality rate.
Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report
(2022) Calvache, Carlos
Campomelic dysplasia (CD) is a rare disorder that involves the skeletal and genital systems. This condition has been associated with a diverse set of mutations in the SRY-box transcription factor 9 (SOX9) gene. Case presentation: We herein report a case involving a 4-year-old female patient with CD, female sex reversal, type 1 Arnold–Chiari malformation, and bilateral conductive hearing loss and investigate the causal mutation. Whole-exome sequencing analysis detected a novel Trp115X* variant in the SOX9 gene. We performed a literature review of the reported cases and demonstrated that the missense variants were located only in the self-dimerization domain (DIM) and high-mobility group box domains. We also reported that variants in the DIM domain do not cause sex reversal and identified that the amino acid sequences that were mutated in the patients with campomelic dysplasia are evolutionarily conserved among primates. Conclusions: We suggest that missense variants cannot be located in the K2, PQA, and PQS given that these domains function critically for transcriptional activation or repression of target genes and evolve under purifying selection. 2022 Calvache, Vásquez, Romero, Hosomichi and Pozo.
Sobreexpresión de HER-2 en pacientes con cáncer de mama en SOLCA-Cuenca
(2023) Pozo Palacios, Juan Carlos; Bigoni Ordóñez, Gabriele Davide
Spatial Analysis of Birth Defects in Ecuador
(2024) Pozo Palacios, Juan Carlos
Objectives: This study aimed to assess the geographical distribution of birth defects in Ecuador. Materials and Methods: This study employed spatial analysis techniques using the records of birth defects from the Ecuadorian Public Health Ministry from January 2015 to December 2019. Morbidity rates, per 1000 new-borns, were calculated by birth defect detected and the province of birth, and then the map of its distribution was depicted. The spatial distribution was assessed in each province and canton. Results: 29 276 confirmed cases born between 2015 and 2019 were registered. The distribution of every disease tends to be different in every canton and birth defect type in Ecuador. The relative rates show a higher incidence in some eastern and highland cantons. Conclusions: We found a different distribution and rate of birth defects in Ecuador. The higher incidence of birth defects in some cantons should be investigated in future studies, as should environmental factors, consanguineous rates, and genetic polymorphism distribution. © 2024 The Author(s).
Spatial Distribution of Congenital Disorders Diagnosed by the Newborn Screening Program in Ecuador
(2021) García Díaz, Génesis
The newborn screening program in Ecuador has been operating since 2011 under the responsibility of the Ministry of Health. This program is centralized and diagnoses four diseases: congenital hypothyroidism, phenylketonuria, galactosemia, and congenital adrenal hyperplasia. This study aimed to assess the geographical distribution of newborn screening cases in Ecuador. Spatial analysis techniques were applied using the records of the National Newborn Screening Program with a congenital disease confirmed from January 2012 to December 2019. Morbidity rates per 100,000 were calculated by newborn screening disease detected and the province of birth, posteriorly, the map of its distribution was graphed and assessed using the QGIS 3.12 software. In total, 393 cases born confirmed between 2012 and 2019 were registered. The distribution of every disease tends to be different in all provinces in Ecuador; the spatial variation was significant and relative rates showed a higher incidence in some eastern provinces. In conclusion, we found a different distribution and rates of newborn screening disorders in Ecuador. The high incidence of congenital hypothyroidism, phenylketonuria, galactosemia, and congenital adrenal hyperplasia in some areas should be investigated, due could be related to ethnic, genetic, and cultural aspects of the population.
Turner syndrome associated with Down syndrome: about a case
(2022) Llamos Paneque, Arianne; Pozo Palacios, Juan Carlos; Sacan Jalca, Byron; Garzon Castro, Maribel de los Angeles; Lamar Segura, Elizabeth; Ñacato Pachacama, Karen Lizbeth
The coexistence of double aneuploidy of Down and Turner syndromes is rare; most cases have been due to double mitotic errors. The objective of the study was to report a case with monosomy of the X chromosome and trisomy of chromosome 21, in mosaic variety, highlighting the phenotypic effect that the presence of different chromosomal abnormalities can produce and compare with those reported in the literature. A 10-year-old Ecuadorian female, born to a multipregnant mother with 46 years at conception, is seen in consultation with a predominant clinical phenotype of Down syndrome, associated with menarche, presence of pubic and axillary villu, where a karyotype is verified 45 X[7]/47XX+ 21 [3]/46, X, der (X)(: p11.1-> q11.1)[1]/46,XX [1]. The present case is a double Turner-Down aneuploidy, with predominantly X monosomy cell line, who shows important mental retardation and some signs of puberal development not usually in Turner syndrome. These features highlight the clinical importance of doing a karyotype in mental retardation cases and searching low mosaics of another aneuploidies in atypical cases. Its complex chromosomal formula and support with molecular cytogenetics allowed diagnostic confirmation and genetic counseling.
Validación de la prueba JJ63 instrumento de medición de resiliencia adolescente en el Colegio Benigno Malo de la Ciudad de Cuenca. 2011
(2011) Pozo Palacios, Juan Carlos; Quezada Orellana, Israel Luis; Quispillo Moyota, Carlos Fernando; Jaramillo Oyervide, Julio Alfredo
Objective: To determine the internal consistency of the diagnostic test JJ63 like adolescent´s resilience measurement instrument in Benigno Malo school in Cuenca. . Method and materials: This is a descriptive quantitative research of Cronbach´s alpha internal consistency measurement. 827 sample that satisfied the inclusion criteria. Structured interview was used to apply a questionnaire consisting of sociodemographic variables, with the JJ63 test, validated in 2010 by a pilot trial. The results obtained from a statistical analysis in SPSS15.00. Evaluation Version. Results: The JJ63 test obtained Cronbach´s alpha internal consistency measure of: 0865 by SPSS 15.0, 0864 by Variance Method, 0.873 by Correlations Method. 76.5% of male adolescents, 57.8% were in the middle adolescence, 72.1% are moderately resilient adolescents, immigrant parents in 12.3%, 45% female resilient adolescents, 41.7% married students are resilient, 14.3% adolescents with both parents immigrants are slightly resilient, 31.4% early adolescence resilient, 19.8% first high school adolescents are resilient, p= 0.003 in school year and stages of adolescence gain with resilience. Conclusions: The JJ63 test has a Cronbach's alpha internal consistency of 0.87. The resilience level is related to the level of education and stage of adolescence, but no relation with emigration. Female adolescents are more resilient than male adolescents.