Clinical aspects associated with syndromic forms of Orofacial Clefts in a Colombian population

Objectives: To present descriptive epidemiology of Orofacial Clefts and to determine the association of syndromic forms with antenatal high-risk conditions, preterm birth, and comorbidities among nested-series of cases. Methods: A study of nested-series of cases was conducted. Frequencies of cleft type, associated congenital anomalies, syndromic, non-syndromic and multiple malformation forms, and distribution of Orofacial Clefts according to sex and affected-side were determined. Odds ratios were calculated as measures of association between syndromic forms and antenatal high-risk conditions, preterm birth and comorbidities. A total of three hundred and eleven patients with Orofacial Clefts were assessed in a 12-month period. Results: The most frequent type of Orofacial Clefts was cleft lip and palate, this type of cleft was more frequent in males, whereas cleft palate occurred more often in females. The most common cases occurred as non-syndromic forms. Aarskog-Scott syndrome showed the highest frequency amongst syndromic forms. Hypertensive disorders in pregnancy, developmental dysplasia of the hip, central nervous diseases and respiratory failure showed significant statistical associations (p <0.05) with syndromic forms. Conclusions: These data provide an epidemiological reference of Orofacial Clefts in Colombia. Novel associations between syndromic forms and clinical variables are determined. In order to investigate causality relationships between these variables further studies must be carried out.

Characterization of polymorphisms of genes ADH2, ADH3, ALDH2 and CYP2E1 and relationship to the alcoholism in a Colombian population

Objective: Identify and characterize polymorphisms of genes ADH2, ADH3, ALDH2 and CYP2E1 in a Colombian population residing in the city of Bogotá and determine its possible relationship to the alcoholism. Methods: ADH2, ADH3, ALDH2, and CYP2E1 genotypes a population of 148 individuals with non-problematic alcohol and 65 individuals with alcoholism were determined with TaqMan probes and PCR-RFLP. DNA was obtained from peripheral blood white cells. Results: Significant difference was found in family history of alcoholism and use of other psychoactive substances to compare alcoholics with controls. When allelic frequencies for each category (gender) were considered, frequency of A2 allele carriers in ADH2 was found higher in male patients than controls. In women, the relative frequency for c1 allele in CYP2E1 was lower in controls than alcoholics. The ALDH2 locus is monomorphic. No significant differences in allele distributions of the loci examined to compare two populations were observed, however when stratifying the same trend was found that these differences tended to be significant. Conclusions: This study allows us to conclude the positive association between family history of alcoholism and alcoholism suggesting that there is a favourable hereditary predisposition. Since substance dependence requires interaction of multiple genes, the combination of genotypes ADH2*2, CYP2E1*1 combined with genotype homozygous ALDH2*1 found in this study could be leading to the population to a potential risk to alcoholism.

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family

Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. Objective: We describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. Methods: We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. Results: The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family

Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. Objective: we describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. Methods: We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. Results: The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.

What toleration means to contemporary liberalism?

Toleration is a key concept of liberalism, both from the historical and conceptual points of view. On the other hand, as people’s freedom to live according to their moral and religious ideas has long become a basic value for liberal societies and their political constitutions, it is reasonable to understand that there is nothing to be tolerated nor by citizens neither by the State. However, a part of the scope and meaning of the fundamental rights and freedoms is subject to what John Rawls calls reasonable disagreements and this is a field where toleration understood in the classic way is compatible with equality: not to intervene against that which is being disapproved understood has a raison d'être. Since the 1980s, toleration has been present in the debates on how to deal with pluralism in a constitutional democracy. This has to be connected to the rise of identity politics: political and intellectual movements such as multiculturalism or comunitarism that questioned whether social order based on neutral criteria was either possible or desirable or both things at the same time. Outstanding liberal philosophers were among those demanding political priority for comunitarian values and those who showed interest for toleration as a key concept to articulate pluralism. Key distinctions between them can be explained as the result of the different approaches they take when facing classical theories on toleration: whereas John Locke’s is a major influence on Rawls, John Stuart Mill’s is on the others, while Gray, Walzer and Rorty follow Isaiah Berlin’s reading of Mill.

Colombian Jazz dance suite : a synthesis of the music of the colombian andes and modern jazz

This thesis is an attempt to unite two distinct and dissimilar musical genres, the music of the Colombian Andes and modem jazz. The compositions to be analyzed in this thesis are meant to function as parts of a whole. Thus, they will be linked by thematic and rhythmic material. In their entirety the pieces will form a suite of dances not unlike those of Baroque composers, with titles that denote the name of the particular air being employed by the composer, who is also the author of this thesis. These individual dances are orchestrated for a jazz ensemble consisting of piano, string bass, drums, alto saxophone, and guitar. The rhythmic underpinning of this work is inspired by the folk music of Colombia and the harmonic content will be derived from the jazz idiom. The purpose of this thesis is to demonstrate the possible product of the fusion of musical disciplines that are on the surface in no way related. This thesis will also attempt to show an example of how cultures can meld socio-artistically.

Credit spreads and monetary policy in a small open economy: an analysis of the colombian economy

This paper estimates Bejarano and Charry (2014)’s small open economy with financial frictions model for the Colombian economy using Bayesian estimation techniques. Additionally, I compute the welfare gains of implementing an optimal response to credit spreads into an augmented Taylor rule. The main result is that a reaction to credit spreads does not imply significant welfare gains unless the economic disturbances increases its volatility, like the disruption implied by a financial crisis. Otherwise its impact over the macroeconomic variables is null.

The significant role of third-party logistics (3pl) operators as fosterers of organizational performance in colombian companies

La eliminación de barreras entre países es una consecuencia que llega con la globalización y con los acuerdos de TLC firmados en los últimos años. Esto implica un crecimiento significativo del comercio exterior, lo cual se ve reflejado en un aumento de la complejidad de la cadena de suministro de las empresas. Debido a lo anterior, se hace necesaria la búsqueda de alternativas para obtener altos niveles de productividad y competitividad dentro de las empresas en Colombia, ya que el entorno se ha vuelto cada vez más complejo, saturado de competencia no sólo nacional, sino también internacional. Para mantenerse en una posición competitiva favorable, las compañías deben enfocarse en las actividades que le agregan valor a su negocio, por lo cual una de las alternativas que se están adoptando hoy en día es la tercerización de funciones logísticas a empresas especializadas en el manejo de estos servicios. Tales empresas son los Proveedores de servicios logísticos (LSP), quienes actúan como agentes externos a la organización al gestionar, controlar y proporcionar actividades logísticas en nombre de un contratante. Las actividades realizadas pueden incluir todas o parte de las actividades logísticas, pero como mínimo la gestión y ejecución del transporte y almacenamiento deben estar incluidos (Berglund, 2000). El propósito del documento es analizar el papel de los Operadores Logísticos de Tercer nivel (3PL) como promotores del desempeño organizacional en las empresas colombianas, con el fin de informar a las MIPYMES acerca de los beneficios que se obtienen al trabajar con LSP como un medio para mejorar la posición competitiva del país.

LMS tables for waist circumference and waist-to-height ratio among Colombian children and adolescents: The FUPRECOL study

Background: Indices predictive of central obesity include waist circumference (WC) and waist-to-height ratio (WHtR). The aims of this study were 1) to establish a Colombian youth smoothed centile charts and LMS tables for WC and WHtR and 2) to evaluate the utility of these parameters as predictors of overweight and obesity. Method: A cross-sectional study whose sample population comprised 7954 healthy Colombian schoolchildren [boys n=3460 and girls n=4494, mean (standard deviation) age 12.8 (2.3) years old]. Weight, height, body mass index (BMI), WC and WHtR and its percentiles were calculated. Appropriate cut-offs point of WC and WHtR for overweight and obesity, as defined by the International Obesity Task Force (IOTF) definitions, were selected using receiver operating characteristic (ROC) analysis. The discriminating power of WC and WHtR was expressed as area under the curve (AUC). Results: Reference values for WC and WHtR are presented. Mean WC increased and WHtR decreased with age for both genders. We found a moderate positive correlation between WC and BMI (r= 0.756, P < 0.01) and WHtR and BMI (r= 0.604, P < 0.01). The ROC analysis showed a high discrimination power in the identification of overweight and obesity for both measures in our sample population. Overall, WHtR was slightly a better predictor for overweight/obesity (AUC 95% CI 0.868-0.916) than the WC (AUC 95% CI 0.862-0.904). Conclusion: This paper presents the first sex- and age-specific WC and WHtR percentiles for both measures among Colombian children and adolescents aged 9–17.9 years. By providing LMS tables for Latin-American people based on Colombian reference data, we hope to provide quantitative tools for the study of obesity and its comorbidities.

Impact on hip fracture mortality after the establishment of an orthogeriatric care program in a colombian hospital

El objetivo del estudio es evaluar la mortalidad a un año en pacientes con fractura de cadera, mayores de 65 años tratados en un programa establecido de orto-geriatría. 298 se trataron de acuerdo al protocolo de orto-geriatría, se calculo la mortalidad a un año, se establecieron los predictores de mortalidad orto-geriátrico. La sobrevida anual se incremento de 80% a 89% (p = .039) durante los cuatro años de seguimiento del programa y disminuyo el riesgo de mortalidad anual postoperatorio (Hazard Ratio = 0.54, p = .049). La enfermedad cardiaca y la edad maor a 85 años fueron predictores positivos para mortalidad.

La educación democrática: El juego limpio como posibilidad en la escuela

En este texto procuro vincular el principio del deber del juego limpio (Duty of fair play) enunciado por John Rawls a la formación ciudadana. Considero que el juego limpio aporta elementos significativos a la construcción de ciudadanía, como la autonomía y el sentido de justicia. El desarrollo del trabajo se da a través de un recuento breve sobre la escuela y su vínculo con la formación ciudadana en el contexto colombiano. Seguido de esto se revisa la génesis del término competencia y posteriormente se expone de manera crítica el modelo de competencias ciudadanas implementado por el Ministerio de Educación Nacional de Colombia. Se concluye estableciendo una concordancia entre el juego limpio y la formación ciudadana, teniendo como marco las competencias ciudadanas.

Combination of product quality management and exports: The case of Colombian fruits companies

Quality management provides to companies a framework to improve quality in overall systems, reduction of costs, reallocation of resources efficiently, correct planning of strategies, prevent or correct errors in the right time and increase the performance of companies. In this text, we discuss the different theories in this field, their obligatory or non-obligatory compliance, the importance of quality management for exporting companies and a case study of a Colombian firm that its main objective is to manage quality. In conclusion, we find out that there is different types of quality management systems such as Juran’s trilogy, Deming 14 points, Six sigma, HACCP, and so on; also that companies have to manage suppliers and that quality has a positive influence on exports volume; in the case of Colombian small and medium enterprises, it can be mentioned that the majority has implemented tools regarding quality management but is not enough.

International student exchanges and entrepreneurial capabilities: insights from colombian students studying in France

It seems globalization has challenge different types of fields around the world. Cultures, politics, economies and even education are day by day challenged due to the open of boundaries, therefore countries, institution and people need to develop new activities in order to gain a competitive advantages over others, that’s why entrepreneurship comes to the discussion as an opportunity and a possible solution to situation, but what triggers it? Can it be influenced through different programs and can it be teach changing university curriculums? Well, as boundaries are falling even in educational institutions, this study aims to explain if there’s any effect on students’ entrepreneurial capabilities after being part of international exchange programs. It will be done through the collection of primary data from Colombian students studying in France and if this program influenced their skills as entrepreneurs.

Enterprise longevity in Colombian companies From a perspective of innovation and corporate social responsibility as a strategy

Hoy en día la Innovación y la Responsabilidad Social Empresarial son una herramienta clave para la perdurabilidad de una empresa a través del tiempo. Este es el caso de las organizaciones colombianas donde las decisiones de gerencia son enfocadas en el desarrollo de plataformas que soportan practicas sociales y éticas ya que estas incentivan a los trabajadores ofreciéndoles a sus clientes un mejor servicio y son necesarias para generar una estrategia de reputación, ganar fidelidad y credibilidad por parte de los consumidores. Crepes & Waffles es uno de los restaurantes colombianos más exitosos y que ha logrado mantenerse en el tiempo aún así en tiempos turbulentos. Su éxito se debe al uso de RSE en su estrategia, ellos crean innovación de valor en cada uno de sus platos al hacerlos diferentes, en el servicio al cliente y en los servicios y el buen trato que se le ofrece a los trabajadores. Por otro lado, Procolombia es una organización que promueve las exportaciones no tradicionales, la inversión extranjera y la marca país. Ellos al igual que Crepes & Waffles también se enfocan en la RSE y crea innovación de valor en sus procesos de orientar a las empresas a través de conferencias, seminarios, entrenamientos entre otras.

Handgrip strength cut-off for cardiometabolic risk index among Colombian children and adolescents : the FUPRECOL study

Abstract Objective: Evidence shows an association between muscular strength (MS) and health among youth, however low muscular strength cut-points for the detection of high metabolic risk in Latin-American populations are scarce. The aim of this study was two-fold: to explore potential age- and sex-specific thresholds of MS, for optimal cardiometabolic risk categorization among Colombian children and adolescents; and to investigate if cardiometabolic risk differed by MS group by applying the receiver operating characteristic curve (ROC) cut point. Methods: This is a secondary analysis of a cross-sectional study (the FUPRECOL study), published elsewhere. The FUPRECOL study assessments were conducted during the 2014– 2015 school year. MS was estimated by a handle dynamometer on 1,950 children and adolescents from Colombia, using the MS relative to weight (handgrip strength/body mass). A metabolic risk score was computed from the following components: waist circumference, triglycerides, HDL-c, glucose, systolic and diastolic blood pressure. ROC analysis showed a significant discriminatory accuracy of MS in identifying the low/high metabolic risk in children and adolescents and both gender. Results: In children, handgrip strength/body mass level for a low metabolic risk were 0.359 and 0.376 in girls and boys, respectively. In adolescents, these points were 0.440 and 0.447 in girls and boys, respectively. Conclusion: In conclusion, the results suggest a hypothetical MS level relative to weight for having a low metabolic risk, which could be used to identify youths at risk.