Teaching vocabulary with fables reading with primary learners in Complejo Educativo la Julita from Pereira

En el siguiente documento se describen los procedimientos para un proyecto de aula ejecutado en una de las instituciones en alianza con la universidad Tecnológica de Pereira en la ciudad de Pereira. Para esta investigación de tipo descriptiva, el procedimiento se basó en la presentación, la práctica y la producción junto con el uso de un enfoque inverso para la planificación de las clases. Se pretendió determinar la efectividad de la utilización de fábulas como recurso en las clases de inglés para enseñar vocabulario como también principios éticos y morales a los niños. Se obtuvo como resultado una alta participación y compresión de los niños frente a los temas expuestos, pero también se observaron debilidades y dificultades por el uso de la primera lengua como también problemas de atención

Differential diagnosis in congenital fetal and neonatal thoracic-abdominal wall defects

Introducción: Los defectos congénitos de la pared toracoabdominal del feto o del recién nacido presentan un reto diagnóstico en medicina perinatal. Algunas de las entidades se sobreponen, comparten segmentos alterados y pueden tener etiología semejante o no.Métodos: Se revisaron bases de datos en busca de criterios diagnósticos de entidades que involucran defectos congénitos en la pared toracoabdominal. Se ilustran con casos recibidos en el Hospital Universitario San Ignacio. Resultados: De la revisión seconstruyó una guía diagnóstica.Conclusiones: Dada la complejidad diagnóstica de los defectos de la pared toracoabdominal en fetos y recién nacidos por su tamaño, por los cambios por maceración o por las malformaciones asociadas, es indispensable conocer los criterios para el correcto dictamen.Artículo original152-165Introduction : Congenital morphological defects involve the thoracic-abdominal wall of the fetus or the newborn; they present a diagnostic challenge in diverse areas of perinatal medicine. Some defects overlap; some share altered segments; some may have similar etiologies or not. Methods : Literature review used databases that sought diagnostic criteria on some of the most frequent syndromes that involve congenital thoracic-abdominal wall defects. These are illustrated below with cases from the San Ignacio University Hospital. Results : A guide was compiled using the information obtained. Conclusions : Due to diagnostic complexity of fetal and neonatal thoracic- abdominal wall defects: size, maceration changes and associated malformations, it is indispensable that specific criteria be recognized in order to reach a proper conclusion

Consenso colombiano para el manejo de pacientes con Hipofosfatasia

La hipofosfatasia (HPP) es una enfermedad metabólica, de tipo hereditario, causada por mutaciones en el gen ALPL. Teniendo en cuenta los retos del manejo adecuado de los pacientes con HPP, se realizó un consenso interdisciplinario de expertos (endocrocrinólogos pediatras, nefrólogos pediatras, ortopedistas infantiles y genetistas clínicos) con el fin de proponer recomendaciones de utilidad clínica para el diagnóstico, tratamiento y seguimiento de los pacientes colombianos con HPP. Estas sugerencias se realizan en el contexto de los diferentes tipos de presentaciones y las edades de los pacientes.Q41-7Hypophosphatasia (HPP) is a hereditary metabolic disease caused by mutations in the ALPL gene. Taking into account the challenges found in the adequate management of patients with HPP, an interdisciplinary consensus of experts (pediatric endocrinologists, pediatric nephrologists, pediatric orthopedists and clinical geneticists) was carried out, in order to propose recommendations of clinical utility for the diagnosis, treatment and follow-up of Colombian patients with HPP. These suggestions are made in the context of the different types of presentations and the ages of the patients

Criterios clínicos de enfermedades genéticas

Las enfermedades de origen genético han sido un desafío para los profesionales de la salud que deben encararlas. Este libro presenta una recopilación de los criterios clínicos de varias de estas enfermedades; de ahí que sea una adecuada herramienta para facilitar un diagnóstico más certero a los pacientes.Bogot

Criterios clínicos de enfermedades genéticas

Las enfermedades de origen genético han sido un desafío para los profesionales de la salud que deben encararlas. Este libro presenta una recopilación de los criterios clínicos de varias de estas enfermedades; de ahí que sea una adecuada herramienta para facilitar un diagnóstico más certero a los pacientes.Bogot

Increased tissue factor and thrombomodulin expression and histopathological changes in placentas of pregnancies with preeclampsia.

Q3Artículo original31-39INTRODUCTION: Preeclampsia has a global frequency of 2–8% and a frequency of 10% in developing countries. In Colombia, preeclampsia causes 42% of maternal mortality. Alterations in placental homeostasis have been proposed to be involved in its pathophysiology. The aim of this study was to compare mRNA and protein levels of tissue factor (F3) and thrombomodulin (THBD) and the histopathological findings of placentas. MATERIALS AND METHODS: We studied 16 placentas from patients with preeclampsia and 19 term placentas with uncomplicated pregnancy. An expert pathologist, who was masked to the group assignment, conducted an evaluation to determine specific histological changes. Assessments of mRNA and protein levels of F3 and THBD were performed using real-time PCR and ELISA, respectively. RESULTS: Cases and controls differed in the frequency of decidual arteriopathy (p = 0.027), acute infarction (p = 0.001) and hyperplasia of the syncytiotrophoblast (p = 0.0017). Cases had increased levels of F3 mRNA (p = 0.0124) and protein (p < 0.0001) and THBD mRNA (p < 0.0001) and protein (p < 0.0001). CONCLUSION:In placenta of patients with preeclampsia, we detected abnormal expression of F3 and THBD with increased protein and mRNA levels. The role of these molecules in the pathogenesis of this disease and in alterations of hemostatic and histopathological aspects of placentas need further studying

22q11.2 Deletion Syndrome in Colombian Patients With Syndromic Cleft Lip and/or Palate

Q3Q1Informe clínico116-122The objective of this work was to identify 22q11.2 chromosomal deletion in patients with cleft lip and/or cleft palate and suggestive syndromic phenotype in Colombian patients. We studied 49 patients with cleft lip and/or cleft palate, exhibiting additional clinical findings linked to 22q11.2 deletion syndrome. All patients underwent high-resolution G-banded karyotyping, multiplex ligation-dependent probe amplification, and clinical evaluation by a geneticist. Seven patients presented 22q11.2 deletion and 2 patients had other chromosomal abnormalities. In conclusion, this study contributes with new data for genetic etiology in syndromic conditions of oral fissures

Insight Into the ontogeny of GnRH neurons from patients born without a nose

CONTEXT: The reproductive axis is controlled by a network of gonadotropin-releasing hormone (GnRH) neurons born in the primitive nose that migrate to the hypothalamus alongside axons of the olfactory system. The observation that congenital anosmia (inability to smell) is often associated with GnRH deficiency in humans led to the prevailing view that GnRH neurons depend on olfactory structures to reach the brain, but this hypothesis has not been confirmed. OBJECTIVE: The objective of this work is to determine the potential for normal reproductive function in the setting of completely absent internal and external olfactory structures. METHODS: We conducted comprehensive phenotyping studies in 11 patients with congenital arhinia. These studies were augmented by review of medical records and study questionnaires in another 40 international patients. RESULTS: All male patients demonstrated clinical and/or biochemical signs of GnRH deficiency, and the 5 men studied in person had no luteinizing hormone (LH) pulses, suggesting absent GnRH activity. The 6 women studied in person also had apulsatile LH profiles, yet 3 had spontaneous breast development and 2 women (studied from afar) had normal breast development and menstrual cycles, suggesting a fully intact reproductive axis. Administration of pulsatile GnRH to 2 GnRH-deficient patients revealed normal pituitary responsiveness but gonadal failure in the male patient. CONCLUSIONS: Patients with arhinia teach us that the GnRH neuron, a key gatekeeper of the reproductive axis, is associated with but may not depend on olfactory structures for normal migration and function, and more broadly, illustrate the power of extreme human phenotypes in answering fundamental questions about human embryology

AN OPTIMIZATION PROBLEM FOR A PRODUCTION SYSTEM WITH REAL OPTION APPROACH (Nonlinear Analysis and Convex Analysis)

Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia revealed that 84% of probands harbor a missense mutation localized to a constrained region of SMCHD1 encompassing the ATPase domain. SMCHD1 mutations cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) via a trans-acting loss-of-function epigenetic mechanism. We discovered shared mutations and comparable DNA hypomethylation patterning between these distinct disorders. CRISPR/Cas9-mediated alteration of smchd1 in zebrafish yielded arhinia-relevant phenotypes. Transcriptome and protein analyses in arhinia probands and controls showed no differences in SMCHD1 mRNA or protein abundance but revealed regulatory changes in genes and pathways associated with craniofacial patterning. Mutations in SMCHD1 thus contribute to distinct phenotypic spectra, from craniofacial malformation and reproductive disorders to muscular dystrophy, which we speculate to be consistent with oligogenic mechanisms resulting in pleiotropic outcomes

Homemade

Es el nuevo trabajo musical nacido del proyecto de extensión ALAC de la Facultad de artes ASAB.t is the new musical work born from the ALAC extension project of the ASAB Faculty of Arts