Analysis of the LRRK2 p.G2019S mutation in Colombian Parkinson’s Disease Patients

Introduction: Mutations in the leucine-rich repeat kinase 2 gene (LRRK2 or Dardarin) are considered to be a common cause of autosomal dominant and sporadic Parkinson´s disease, but the prevalence of these mutations varies among populations. Objective: To analyzed the frequency of the LRRK2 p.G2019S mutation (c.6055G>A transition) in a sample of Colombian patients. Methods: In the present study we have analyzed the frequency of the LRRK2 p.G2019S mutation in 154 patients with familial or sporadic Parkinson Disease, including early and late onset patients, and 162 normal controls. Results: Our results show occurrence of this mutation in two cases (2/154, 1.3%) with classical Parkinson´s signs, and one completely asymptomatic control (1/162, 0.6%). Conclusion: The p.G2019S mutation is not an important causal factor of Parkinson Disease in Colombia having similar frequencies to those reported in other Latin American populations.

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 favorable 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.

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 nestedseries 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.

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.

Liberalism and economic growth: a theoretical exploration

This article explores how the liberal tradition of political thought has dealt with the prospect of limits to economic growth and how it should approach this issue in the future. Using Andrew Moravcsik’s explanatory liberal theory, it finds that the commitment of governments to growth stems primarily from the aggregation of societal preferences for the social goods that growth produces. The arguments of liberal thinkers who have grappled with the issue of growth are then examined to gain a deeper theoretical understanding of the relationship between liberal democracy and growth. These include John Stuart Mill, for whom a non-growing economy was essential for overcoming the tension between liberty and equality; Ronald Dworkin who argues that growth is a derivative means to further more fundamental ends; and Marcel Wissenburg who suggests that it is legitimate for liberal democracies to limit the preference for growth if it risks undermining liberal norms and institutions. Using
these theoretical insights, it is argued that environmental degradation, which is partly driven by growth, now threatens the fundamental liberal commitments of many liberals, including some forms of
state neutralism, utilitarianism, inalienable individual rights and above all human autonomy. Therefore, liberal democratic states not only can, but must move towards a post-growth economy to secure these objectives into the future.

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.

Gender justice and education: constructions of boys within discourses of resentment, neo-liberalism and security

This paper examines the impact of a politics of resentment, neo‐liberal policies, and security concerns on issues of gender justice in schools in various western countries. We argue that since the 1990s gender justice in schools has been severely hampered by a politics of resentment, or backlash politics, and the presence of neo‐liberal discourses in education. Furthermore, we contend that current national security concerns in the post‐September 11 context have compounded many of the challenges posed by these trends. We detail how such trends have produced constructions of boys as oppressed, as problems and as dangerous. We argue for a problematising of such constructions and of the anti‐feminist, masculinist and imperialist discourses undergirding them. We propose that moving beyond such essentialising towards gender justice in education will require a critical engagement with the ways in which national security issues, such as the “war on terror”, are working alongside backlash politics and neo‐liberal discourses to distort gender equity and schooling priorities.

Neo-liberalism and new configurations of global space: possibilities, tensions and problematics for gender justice

While the global neo-liberal agenda has increased the impoverishment and marginalisation of many women, it has also created possibilities for pursuing gender justice. Deepened and broadened understandings and measures of equity brought about by the processes of globalisation and insights from feminism have disturbed neo-liberal regimes and produced action around the pursuit of gender equity goals. Moreover, new configurations of ‘the global’ have strengthened transnational feminist networks and coalitions and generated multiple and varied spaces for feminist engagement. Against this backdrop, this article draws attention to the ways in which these shifts have brought to light previously unrecognised complexities and tensions that continue to hinder the pursuit of global gender justice. Focusing on the feminist work of NGOs and CSOs and, specifically, issues of social capital and cultural context, the article examines the problematics and possibilities regarding these organisations' promotion of gender change at local, national and transnational levels. Such examination foregrounds the significance of a coherent feminist politics and activism that responds to the social conditions and cultural nuances that impact on gender relations in particular contexts and is supported by broader facilitative structures and social networks.

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.