New findings in disorders of sex development : role of DMRT3 and OAS3

Q1Artículo completo1-2We have read with great interest the study by Tsai et al. (1)inthis issue ofFertility and Sterility, where the authors indicatethatDMRT3andOAS3are involved in human disorders ofsex development (DSD) by controllingESR1expressio

Contribución de los procesos de resolución de problemas a la competencia académica en matemáticas

Investigaciones anteriores se han centrado en analizar la incidencia de algunos procesos cognitivos y metacognitivos en el desempeño de resolución de problemas, limitando la presencia de otros procesos y su incidencia individual en la competencia en matemáticas. El objetivo general de la presente investigación fue determinar el grado de contribución de los procesos de resolución de problemas a la competencia académica en matemáticas, la cual se desarrolló bajo un enfoque cuantitativo con diseño correlacional predictivo y muestreo no probabilístico, y estudió la contribución de los procesos cognitivos (Comprensión, Implementación y Adquisición de Nueva Información) y metacognitivos (Exploración, Análisis, Planeación, Monitoreo Local y Monitoreo Global) de resolución de problemas a la competencia académica en matemáticas, en una muestra de 41 estudiantes matriculados en segundo grado de primaria. Los resultados arrojaron una débil presencia de estos procesos en la resolución de problemas matemáticos, por lo que no fueron concluyentes respecto a la contribución particular de dichos procesos en la resolución de problemas y en especial en la puntuación de la competencia académica en matemáticas. Si bien no se logró establecer correlaciones significativas entre los procesos cognitivos y metacognitivos de resolución de problemas con la puntuación de la competencia académica en matemáticas, se pudieron analizar resultados coincidentes con otras investigaciones en cuanto a la dificultad que presentan los niños para utilizar y manifestar estos procesos, debido a factores múltiples como la edad, el contexto social y prácticas en torno a la enseñanza de las matemáticas

Disorders of sex development : genetic characterization of a patient cohort

Q3Q397-106Disorders of sex development (DSDs) are congenital conditions in which the external appearance of the individual does not coincide with the chromosomal constitution or the gonadal sex. In other words, there is an ambiguous or intermediate condition between the male and female phenotypes of the anatomical sex. These atypical conditions are manifested in several ways, ranging from genital ambiguity to phenotypes that are so attenuated that they can go unnoticed or appear normal. Currently, there is a lack of understanding of the factors responsible for these outcomes; however, they are likely to be conditioned by genetic, hormonal and environmental factors during prenatal and postnatal development. The present study determined the genetic etiology of DSDs in Colombian patients by conventional cytogenetic analysis, FISH and MLPA (for SF1, DAX1, SOX9, SRY and WNT4). A cohort of 43 patients with clinical phenotypes of sex development disorder was used in the present study. Using this multistep experimental approach, a diagnostic percentage of 25.58% was obtained: 17 patients (39.53%) were classified as having gonadal development disorders, the majority of which were ovotesticular disorders with numerical and/or structural alterations of the sex chromosomes, 9 patients (20.93%) were classified as having testicular DSD with a 46,XY karyotype, and 3 patients (6.98%) as having ovarian DSD with a 46,XX karyotype. The remaining 14 patients (32.56%) were classified as ‘other’ since they could not be grouped into a specific class of gonadal development, corresponding to hypospadias and multiple congenital anomalies. These findings highlight the importance of histological and cytogenetic studies in a gonadal biopsy. In 11/43 cases, the multistep experimental protocol presented in the present study yielded etiological or histological findings that could be used to define the medical management of patients with DSDs. In conclusion, for the etiological diagnosis of DSDs, a broad‑spectrum approach that includes endocrinological tests, conventional karyotyping, molecular karyotyping by FISH and, molecular tests is required, in addition to gonadal tissue analyses, to identify genetic alterations

Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America

Abstract Background Variant curation refers to the application of evidence‐based methods for the interpretation of genetic variants. Significant variability in this process among laboratories affects clinical practice. For admixed Hispanic/Latino populations, underrepresented in genomic databases, the interpretation of genetic variants for cancer risk is challenging. Methods We retrospectively evaluated 601 sequence variants detected in patients participating in the largest Institutional Hereditary Cancer Program in Colombia. VarSome and PathoMAN were used for automated curation, and ACMG/AMP and Sherloc criteria were applied for manual curation. Results Regarding the automated curation, 11% of the variants (64/601) were reclassified, 59% (354/601) had no changes in its interpretation, and the other 30% (183/601) presented conflicting interpretations. With respect to manual curation, of the 183 variants with conflicting interpretations, 17% (N = 31) were reclassified, 66% (N = 120) had no changes in their initial interpretation, and 17% (N = 32) remained with conflicting interpretation status. Overall, 91% of the VUS were downgraded and 9% were upgraded. Conclusions Most VUS were reclassified as benign/likely benign. Since false‐positive and ‐negative results can be obtained with automated tools, manual curation should also be used as a complement. Our results contribute to improving cancer risk assessment and management for a broad range of hereditary cancer syndromes in Hispanic/Latino populations

Polimorfismos genéticos asociados con el metabolismo de quimioterápicos usados para el cáncer: revisión sistemática

Revisar en la literatura la relación entre la presencia de genes polimórficos codificantes de las enzimas que participan en la metabolización de quimioterapéuticos y su eficacia en pacientes con cáncer. Métodos. Se realizó una búsqueda sistemática de la literatura, 20 estudios fueron incluidos por texto completo en idioma inglés y español, que relacionaran fármacos y polimorfismos, que su fecha de publicación no fuera mayor a 18 años anteriores y por calidad metodológica para alcanzar el objetivo del estudio. Estos estudios evaluaron la relación entre la acción de Metotrexato, Vincristina, Carboplatino, Fluorouracilo, Cisplatino, Bleomicina y Antraciclina y polimorfismos involucrados en su metabolismo. Resultados. Se reportaron 51 genes y 100 polimorfismos en la literatura revisada. El mayor número de polimorfismos asociados fue para el Metotrexato (40 %) y no hubo evidencia de polimorfismos relacionados con la Bleomicina. El 79,8 % de estas asociaciones perjudicaban la acción medicamentosa y el 19,2 % corresponden a efectos beneficiosos para la terapéutica. Esta última solo se reportó en Carboplatino, Metotrexato, y Vincristina. 3435TT (ABCB1) y rs10106 (FPGS) se vincularon a dos efectos opuestos. El mayor número de polimorfismos relacionados se reportaron en el Gen SLCO1B1 (11). Conclusiones. Existe una vinculación probada entre mutaciones genéticas y la acción de los quimioterapéuticos Metotrexato, Cisplatino, Carboplatino, 5-fluorouracilo, Doxorubicina y Vincristina. Aunque algunas de estas asociaciones son beneficiosas para el tratamiento, la mayoría de estas favorecen la aparición de efectos adversos graves por lo que se hace necesario un mayor abordaje de la medicina personalizada y el uso de quimioterápicos.PregradoOdontólogo(a

2da Semana de la investigación y la innovación, memorias 2020

The second CEIPA Research and Innovation Week consolidates this space as a scenario for the transfer of knowledge, dissemination of findings and dialogue of knowledge. For the second consecutive year, professors-researchers from CEIPA and other national and international institutions, students and graduates congregate in a setting conceived so that interdisciplinary knowledge flow and nourish the spirit not only of the participants in the event, but of the attending public and those who will be able to read these memories that we put available to society. The health and economic crisis that the entire planet has been experiencing since beginning of 2020, as a consequence of the Covid-19 pandemic, it was not obstacle for the academic community of CEIPA and its institutions allies, meet in order to carry out this second version, which It had already been planned since the first meeting ended in 2019. This last fact is not an accident or a minor fact if one speaks of an academic and scientific community. Several decades ago both the globalization as the rise of the Internet, both framed in a each increasingly evident Knowledge Society, have been knocking down the walls for co-creation, dissemination and access to knowledge. Consequently, the second week of the Research and Innovation was a validation of what CEIPA has been building since the first years of this century: a community that manages knowledge in face-to-face and virtual environments, without barriers of time or space. The meeting also served to ratify that social realities, economic, business and educational are mutating and, therefore, objects and research questions also evolve, with the encouragement to seek answers to present and future social needs, business and nature, inclusive. In the field of digital transformation and the Knowledge Society, results of investigations that inquire about the weight of the technologies in the evolution of economic and educational processes. Machine Learning and the use of emails were the subject of valuable research. But as ICTs are not in themselves the axis of the Knowledge Society, but, its most disruptive instrument, other researchers dealt with issues related to knowledge management, in this case specifically in an economic sector: the hotel industry. Connecting knowledge management issues with processes administrative, investigations were presented that inquired about the management of human talent and the profile of students in processes formative. In addition to the interest in issues related to the Society of Knowledge, it is evident the need to venture into the questions that derive from the socio-economic purposes to reach levels of sustainable development. This interest explains the presentation of research related to the Dow Jones Sustainability Index and the presence of Colombian companies in the same. It is evident that sustainability is a transversal category that already permeates the stock markets and the discussions in the boards company directives. But sustainable development is not only related to indices associated to the nature; social sustainability is a central component of it challenge. The dominant economic model has failed to solve the problems high levels of unemployment, underemployment and even discrimination. Due to the foregoing, the research on practices of human management in companies, 21st century skills and standards for the inclusion of people in production processes. Although it is evident that the research objects have been mutating with trends, especially those related to development sustainability and digital transformation, it is also true that the pandemic leaves us with a number of questions that must be addressed by the international academic community. And this event was no exception. since, among the researchers, they began to look for lights on the implications and costs that this pandemic has had. In short, we want to invite readers to come to the different book chapters of these memories of the second encounter on research and innovation, from CEIPA. published reports They give an account of various questions that we ask ourselves as a society facing to the present and future challenges of our society in general and of the companies and universities in particular.La segunda Semana de la Investigación y la Innovación de CEIPA consolida este espacio como escenario de transferencia de conocimientos, divulgación de hallazgos y diálogo de saberes. Por segundo año consecutivo, docentes-investigadores de CEIPA y otras instituciones nacionales e internacionales, estudiantes y egresados se congregan en un escenario concebido para que el saber interdisciplinar fluya y nutra el espíritu no sólo de los participantes en el evento, sino del público asistente y de quienes podrán leer estas memorias que ponemos a disposición de la sociedad. La crisis sanitaria y económica que vive el planeta entero desde comienzos de 2020, como consecuencia de la pandemia del Covid-19, no fue obstáculo para que la comunidad académica de CEIPA y de sus instituciones aliadas, se diera cita con el fin llevar a cabo esta segunda versión, la cual ya se venía planificando desde que terminó el primer encuentro en 2019. Este último hecho no es un accidente o un hecho menor si se habla de una comunidad académica y científica. Hace varias décadas tanto la globalización como el auge de Internet, ambos enmarcados en una cada vez más evidente Sociedad del Conocimiento, han venido derribando los muros para la co-creación, la difusión y el acceso al conocimiento. En consecuencia, la segunda semana de la Investigación y la Innovación fue una validación de aquello que CEIPA ha venido construyendo desde los primeros años de este siglo: una comunidad que gestiona el conocimiento en ambientes presenciales y virtuales, sin barreras de tiempo o espacio. El encuentro también sirvió para ratificar que las realidades sociales, económicas, empresariales y educativas vienen mutando y que, por tanto, los objetos y las preguntas de investigación también evolucionan, con el ánimo de buscar respuestas a las presentes y futuras necesidades sociales, empresariales y de la naturaleza, inclusive. En el ámbito de la transformación digital y la Sociedad del conocimiento, se presentaron resultados de investigaciones que indagan sobre el peso de las tecnologías en la evolución de procesos económicos y educativos. Machine Learning y el uso de correos fueron objeto de preciadas investigaciones. Pero como las TIC no son en sí mismas el eje de la Sociedad del Conocimiento, sino, su instrumento más disruptivo, otros investigadores se ocuparon de las cuestiones relacionadas con la gestión del conocimiento, en este caso de manera específica en un sector económico: el hotelero. Conectando los temas de gestión del conocimiento con los procesos administrativos, se presentaron investigaciones que indagaron sobre la gestión del talento humano y el perfil de los estudiantes en procesos formativos. Adicional al interés por los temas relacionados con la Sociedad del Conocimiento, es evidente la necesidad de incursionar en las preguntas que se derivan de los propósitos socio-económicos para alcanzar niveles de desarrollo sostenible. Este interés explica la presentación de investigaciones relacionadas con el Dow Jones Sustainability Index y la presencia de empresas colombianas en el mismo. Es evidente que la sostenibilidad es una categoría transversal que ya permea los ámbitos bursátiles y las discusiones en las juntas directivas de las empresas. Pero el desarrollo sostenible no se relaciona sólo con índices asociados a la naturaleza; la sostenibilidad social es un componente central del mismo reto. El modelo económico dominante no ha logrado resolver los problemas de grandes niveles de desempleo, subempleo e, incluso, discriminación. Por lo anterior, llaman la atención las investigaciones sobre prácticas de gestión humana en las empresas, competencias del siglo XXI y las normas para la inclusión de personas en los procesos productivos. Si bien, es evidente que los objetos de investigación han venido mutando con las tendencias, especialmente las relacionadas con el desarrollo sostenible y la transformación digital, también es cierto que la pandemia nos deja un sinnúmero de preguntas que deben ser abordadas por la comunidad académica internacional. Y este evento no fue la excepción, ya que, entre los investigadores comenzaron a buscarse luces sobre las implicaciones y costos que ha tenido esta pandemia. En síntesis, deseamos invitar a los lectores para que se acerquen a los diferentes capítulos de libro de estas memorias del segundo encuentro sobre investigaciones e innovación, de CEIPA. Los informes publicados dan cuenta de diversas preguntas que nos hacemos como sociedad de cara a los retos presentes y venideros de nuestra sociedad en general y de las empresas y las universidades en particular.No aplic

Genetic and epigenetic control of puberty

Puberty is a complex transitional phase in which reproductive capacity is achieved. There is a very wide variation in the age range of the onset of puberty, which follows a familial, ethnic, and sex pattern. The hypothalamic-pituitary-gonadal axis andQ4Revista Internacional - IndexadaA2S

Identification of common differentially expressed genes in Turner (45,X) and Klinefelter (47,XXY) syndromes using bioinformatics analysis

Abstract Background Analysis of patients with chromosomal abnormalities, including Turner syndrome and Klinefelter syndrome, has highlighted the importance of X‐linked gene dosage as a contributing factor for disease susceptibility. Escape from X‐inactivation and X‐linked imprinting can result in transcriptional differences between normal men and women as well as in patients with sex chromosome abnormalities. Objective To identify differentially expressed genes among patients with Turner (45,X) and Klinefelter (46,XXY) syndrome using bioinformatics analysis. Methodology Two gene expression data sets of Turner (45,X) and Klinefelter syndrome (47,XXY) were obtained from the Gene Omnibus Expression (GEO) database of the National Center for Biotechnology Information (NCBI). Statistical analysis was performed using R Bioconductor libraries. Differentially expressed genes (DEGs) were determined using significance analysis of microarray (SAM). The functional annotation of the DEGs was performed with DAVID v6.8 (The Database for Annotation, Visualization, and Integrated Discovery). Results There are no genes over‐expressed simultaneously in both diseases. However, when crossing the list of under‐expressed genes for 45,X cells and the list of over‐expressed genes for 47,XXY cells, there are 16 common genes: SLC25A6, AKAP17A, ASMTL, KDM5C, KDM6A, ATRX, CSF2RA, DHRSX, CD99, ZBED1, EIF1AX, MVB12B, SMC1A, P2RY8, DOCK7, DDX3X, eight of which are involved in the regulation of gene expression by epigenetic mechanisms, regulation of splicing processes and protein synthesis. Conclusion Of the 16 identified as under‐expressed in 45,X cells and over‐expressed in 47,XXY cells, 14 are located in X chromosome and 2 in autosomal chromosome; 8 of these genes are involved in the regulation of gene expression: 5 genes are related to epigenetic mechanisms, 2 in regulation of splicing processes, and 1 in the protein synthesis process. Our results are limited by it being the product of a bioinformatic analysis from mRNA isolated from whole blood, this makes necessary further exploration of the relationships between these genes and Turner syndrome and Klinefelter syndrome in the future

Clinical profile of 28 cases of disorders of sexual development in a referral center

Antecedentes: Los trastornos del desarrollo sexual (TDS) incluyen un grupo de entidades clínicas infrecuentes. La baja prevalencia de estas enfermedades y el impacto social que tienen en la comunidad requieren el registro sistemático de la información clínica de los pacientes. Objetivo: caracterizar el espectro clínico de los casos de trastornos del desarrollo sexual diferentes al síndrome de Turner y Klinefelter valorados en el Hospital Universitario San Ignacio. Métodos: por cada caso se diligenció un formulario electrónico diseñado en la herramienta REDCap®, las variables consideradas para el registro se escogieron siguiendo las recomendaciones del Registro Internacional de Desórdenes de Diferenciación sexual (I-DSD). Resultados: se incluyeron en total 28 pacientes, 2 fueron diagnosticados con un tipo de trastorno de los cromosomas sexuales, 17 fueron diagnosticados con un tipo de trastorno del desarrollo sexual 46,XY y 9 con algún tipo de trastorno del desarrollo sexual 46,XX. Diferentes pruebas moleculares fueron solicitadas en el 96.4 % de casos, logrando definir un diagnóstico etiológico en 7/28 de los casos. Conclusiones: estos hallazgos resaltan la importancia de los estudios citogenéticos como pruebas de primera línea en el enfoque diagnóstico de pacientes con TDS. Este trabajo es el inicio del primer registro de trastornos del desarrollo sexual no solo institucional sino nacional y muy seguramente aportará bases académicas para la construcción y ejecución de futuras investigaciones que permitan generar recomendaciones basadas en la evidencia para mejorar la atención clínica de los individuos afectados con algún tipo de TDS.Background: Disorders of sexual development (DDS) include a group of rare clinical entities. The low prevalence of these diseases and their social impact on the community require the systematic registration of the patients' clinical information. Objective: To characterize the clinical spectrum of cases of disorders of sexual development other than Turner and Klinefelter's syndrome evaluated at the Hospital Universitario San Ignacio. Methods: for each case, an electronic form designed in the REDCap® tool was filled out, and the variables considered for the registry were chosen following the recommendations of the International Registry of Sexual Differentiation Disorders (I-DSD). Results: A total of 28 patients were included; 2 were diagnosed with a type of sex chromosome disorder, 17 were diagnosed with a 46, XY type of sexual development disorder, and 9 with some type of 46, XX sexual development disorder. Different molecular tests were performed in 96.4 % of cases, managing to define an etiological diagnosis in 7/28 of the cases. Conclusions: our findings highlight the importance of cytogenetic studies as first-line tests in the diagnostic approach of patients with DDS. This work is the beginning of the first registry of disorders of sexual development, both institutional and national. It will surely provide academic bases for constructing and executing future research that will generate evidence-based recommendations to improve the clinical care of individuals affected with some type of DDS.https://orcid.org/0000-0002-7109-3342https://orcid.org/0000-0001-8528-4433https://orcid.org/0000-0002-0826-6191https://orcid.org/0000-0002-2231-4321https://orcid.org/0000-0002-7856-7213https://orcid.org/0000-0003-2241-7854https://orcid.org/0000-0002-9675-5963https://orcid.org/0000-0001-6336-5347Revista Nacional - IndexadaN

Risk factors associated with congenital defects that alter hearing or vision in children born in the city of Bogotá between 2002 and 2016

Q4Q2Caso clínico1-7Introduction: Congenital defects affecting the auditory and visual capacity of newborns represent a public health problem as they result in substantial disability, directly impacting the quality of life of newborns and their families. Objective: To evaluate risk factors associated with congenital defects that alter hearing or vision in newborns in the city of Bogotá between 2002 and 2016. Method: Data from the Bogotá Birth Defects Surveillance and Follow-up Program was used, which consolidated data regarding 167 ECLAMC study (Estudio Colaborativo Latino Americano de Malformaciones Congénitas, in spanish) variables in a case-control design to identify risk factors for birth defects after parents provided signed informed consent. Cases were defined as any newborn (alive or stillborn) with a weight greater than 500 g with any visual or hearing abnormality. Controls were defined as newborn in the same hospital and month with no birth defects. Groups were formed according to the case presentation as follows: isolated eye anomaly, isolated ear anomaly, polymalformative, syndromic, and teratogenic. Results: In total, 402,657 births were reviewed, of which 968 cases had some congenital defects that alter hearing or vision. An association was found between the presence of defects and prematurity, as well as between syndromic cases and increasing maternal age. When comparing cases and controls with the risk of having a birth defect, multiparity had an odds ratio (OR) of 1.47 (95% CI: 1.27–1.71), acute respiratory infection had an OR of 2.41 (95% CI: 1.04–5.58), low maternal education level had an OR of 1.34 (95% CI:1.10–1.62), low paternal education had an OR of 1.42, (95% CI:1.17–1.73), manual labor in the maternal occupation had an OR of 1.31 (95% CI:1.03–1.67), and a history of congenital anomalies in the family had an OR of 1.55 (95% CI:1.19–2.00). Conclusion: This research allowed the identification of epidemiological data and significant risk factors for congenital defects that alter hearing or vision in the population of Bogotá