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1.
Genes (Basel) ; 14(11)2023 Nov 02.
Article in English | MEDLINE | ID: mdl-38002979

ABSTRACT

This article presents a comprehensive genetic study focused on pre-Hispanic individuals who inhabited the Aburrá Valley in Antioquia, Colombia, between the tenth and seventeenth centuries AD. Employing a genetic approach, the study analyzed maternal lineages using DNA samples obtained from skeletal remains. The results illuminate a remarkable degree of biological diversity within these populations and provide insights into their genetic connections with other ancient and indigenous groups across the American continent. The findings strongly support the widely accepted hypothesis that the migration of the first American settlers occurred through Beringia, a land bridge connecting Siberia to North America during the last Ice Age. Subsequently, these early settlers journeyed southward, crossing the North American ice cap. Of particular note, the study unveils the presence of ancestral lineages from Asian populations, which played a pivotal role in populating the Americas. The implications of these results extend beyond delineating migratory routes and settlement patterns of ancient populations. They also enrich our understanding of the genetic diversity inherent in indigenous populations of the region. By revealing the genetic heritage of pre-Hispanic individuals from the Aburrá Valley, this study offers valuable insights into the history of human migration and settlement in the Americas. Furthermore, it enhances our comprehension of the intricate genetic tapestry that characterizes indigenous communities in the area.


Subject(s)
DNA, Mitochondrial , Genetics, Population , Humans , DNA, Mitochondrial/genetics , Mitochondria/genetics , North America , Human Migration
2.
Genes (Basel) ; 14(10)2023 09 23.
Article in English | MEDLINE | ID: mdl-37895202

ABSTRACT

The analysis of mitochondrial DNA (mtDNA) hypervariable region (HVR) sequence data from ancient human remains provides valuable insights into the genetic structure and population dynamics of ancient populations. mtDNA is particularly useful in studying ancient populations, because it is maternally inherited and has a higher mutation rate compared to nuclear DNA. To determine the genetic structure of three Colombian pre-Hispanic populations and compare them with current populations, we determined the haplotypes from human bone remains by sequencing several mitochondrial DNA segments. A wide variety of mitochondrial polymorphisms were obtained from 33 samples. Our results support a high population heterogeneity among pre-Hispanic populations in Colombia.


Subject(s)
DNA, Mitochondrial , Genetic Variation , Humans , Colombia , DNA, Mitochondrial/genetics , DNA, Mitochondrial/analysis , Genetic Variation/genetics , Haplotypes/genetics , Indians, South American , Genetics, Population
3.
Article in Spanish | LILACS | ID: biblio-1438389

ABSTRACT

El Síndrome de Alport (SA) es un desorden genético originado por mutaciones en el colágeno tipo IV que es el constituyente principal de las membranas basales. Clínicamente, se caracteriza por nefropatía hereditaria progresiva. En el oído interno, el colágeno IV se encuentra ubicado en la membrana basilar y en el ligamento espiral, por lo que las mutaciones en los genes codificadores provocan hipoacusia de tipo neurosensorial. La presente investigación tiene por objetivo caracterizar el comportamiento de la pérdida de audición en personas diagnosticadas con SA, mediante la revisión de estudios de la literatura. Se realizó una búsqueda en bases de datos con los criterios de inclusión establecidos, incorporando un total de siete artículos para su análisis. Teniendo en cuenta los hallazgos de las diversas investigaciones recopiladas, se concluye que la pérdida auditiva secundaria al SA es heterogénea. No hay un patrón común de presentación pues depende del modo de herencia y del tipo de mutación de la enfermedad, además su grado de severidad y progresión va paralelo a la función renal. Sin embargo, independientemente del momento en que se manifieste el deterioro auditivo, es de vital importancia una intervención audiológica oportuna, con el fin de detectar la hipoacusia lo más temprano posible, hacer un seguimiento riguroso de la funcionalidad auditiva y, en caso de ser necesario, adaptar ayudas auditivas de acuerdo con las necesidades comunicativas del paciente


Alport Syndrome (AS) is a genetic disorder originated by mutations in the collagen type IV which is the main constituent of the basal membranes. Clinically, is characterized by progressive hereditary nephropathy. In the inner ear, the collagen IV is ubicated in the basilar membrane and in the spiral ligament, whereby the mutations in the codifier gens, cause neurosensorial hearing loss. The aim of this investigation is to characterize how hearing loss behaves in people diagnosed with AS, by presenting a reviewing of reported studies in the literature. A database search was performed with the established criteria of inclusion and a total of seven articles were incorporated for its analysis. Considering the findings by the several investigations collected the conclusion is that the secondary hearing loss to AS is heterogenous. There is no a common pattern of presentation as it depends on the mode of heredity and the type of mutation of the disease, and besides of the degree of severity and progression that goes along with the renal function. Nevertheless, regardless of the moment that the auditive impair appears, it is of vital importance an opportune audiological intervention, aiming at detecting an alteration as soon as possible, make a rigorous tracking of the auditive functionality and, if necessary, incorporate hearing aids in accordance with the communicative needs of the patients


Subject(s)
Humans
4.
Medellín; Unidad de Evidencia y Deliberación para la Toma de Decisiones-UNED. Facultad de Medicina, Universidad de Antioquia; 2020. 48 p.
Monography in Spanish | PIE, LILACS | ID: biblio-1151965

ABSTRACT

En esta síntesis se consideran cuatro elementos que se abordaran de manera independiente: 1. La transmisibilidad y gravedad de la infección por SARS-CoV-2 en los niños, niñas y adolescentes. 2. Medidas y adaptaciones para un retorno seguro a las aulas durante la pandemia. 3. Comunicación efectiva con el entorno académico, las familias y la comunidad. 4. Consideraciones de equidad para tener en cuenta en los niños, niñas, adolescentes, padres, profesores e instituciones durante el regreso a la educación presencial. Aunque los gobiernos instauraron la medida de cierre de escuelas para disminuir la transmisión de la enfermedad, y reducir la presión sobre los servicios asistenciales y/o proteger a las poblaciones en riesgo, la evidencia es controvertida sobre el papel de los niños en la transmisión de la infección.


Subject(s)
Humans , Child, Preschool , Child , Adolescent , Schools/organization & administration , Coronavirus Infections/prevention & control
5.
Pensam. psicol ; 17(2): 135-147, jul.-dic. 2019. tab
Article in Spanish | LILACS | ID: biblio-1056821

ABSTRACT

Resumen Objetivo. Comprender la relación entre el perfil psicodinámico y la adicción a las drogas en pacientes internos en una comunidad terapéutica, considerando la operacionalización del eje estructura según el Diagnóstico Psicodinámico Operacionalizado (OPD-2). Método. Se implementó el estudio cualitativo de cuatro procesos individuales de psicoterapia psicodinámica. Cada caso fue analizado por separado y se operacionalizaron los ejes diagnósticos del OPD-2; instrumento validado internacionalmente para la investigación, evaluación, focalización e indicación del tratamiento. Resultados. El análisis de caso permitió concluir que las limitaciones en las capacidades cognitivas, emocionales y vinculares corresponden a un nivel estructural medio-bajo. Discusión. Para la intervención psicoterapéutica es importante comprender la dinámica psíquica que sostiene la conducta adictiva con base en un acertado diagnóstico dimensional.


Abstract Objective. To understand the relation between the psychodynamic profile and drug addiction in patients hospitalized in a therapeutic community, taking into account the operationalization of the structure axis based on the OperationalizationPsychodynamic Diagnostic (OPD-2). Method. A multi-case method was implemented consisting of the qualitative study of four individual processes of psychodynamic psychotherapy. Each case was analyzed individually and the diagnostic axes proposed by the OPD-2 were operationalized, this being an instrument of psychodynamic orientation, validated internationally through research, evaluation, focalization and treatment indication. The case of a drug-addicted patient in the process of rehabilitation was chosen for the purpose of multi-axial evaluation. Results. The case analysis concluded that limitations in cognitive, emotional and bonding abilities correspond to a middle-low structural level. Discussion. In psychotherapeutic interventions, it is important to understand the psychological dynamic present in addictive behavior starting with an appropriate dimensional diagnosis.


Resumo Escopo . Compreender a relação entre o perfil psicodinâmico e a adição às drogas em pacientes internos numa comunidade terapêutica, considerando a operacionalização do eixo estrutura com base no Diagnóstico Psicodinâmico Operacionalizado (OPD-2). Metodologia . Foi implementado um método multicaso, que consiste no estudo qualitativo de quatro processos individuais de psicoterapia psicodinâmica. Cada um dos casos foi analisado por separado e foram operacionalizados os eixos propostos pelo OPD-2, que é um instrumento de orientação psicodinâmica validado internacionalmente para a pesquisa, avalição, focalização e indicação do tratamento. Para o propósito da avaliação multiaxial, foi elegido o caso de um paciente drogo-dependente em processo de reabilitação. Resultados . A análise de caso permitiu concluir que as limitações nas capacidades cognitivas, emocionais e vinculares correspondem a um nível estrutural médio-baixo. Discussão . Para a intervenção psicoterapêutica é importante compreender a dinâmica psíquica que sustenta o comportamento aditivo com base num acertado diagnóstico dimensional.


Subject(s)
Humans , Adult , Substance-Related Disorders , Psychotherapy , Diagnosis , Emotional Regulation
6.
Parasitol Res ; 117(10): 3319-3325, 2018 Oct.
Article in English | MEDLINE | ID: mdl-30006807

ABSTRACT

Some Onchocercidae nematodes such as Pelecitus are parasites of medical and veterinary importance. The adult stage of Pelecitus has been reported infecting birds, and the microfilaria has been associated to human blindness. However, in some of these cases, the nematode was incompletely identified at the species level due to the scarcity of morphological taxonomic keys and, also, to the lack of molecular diagnostic analysis. Here, we report a new Pelecitus species in a crested caracara (Caracara cheriway) producing a severe tenosynovitis and microfilarial dermatitis. It is also the first record of Pelecitus in an American bird of prey. Clinical and histopathological features are described, contributing towards our understanding of the pathogenesis of Pelecitus and the health and conservation of wild bird populations. Our study also provides new information on the molecular diagnosis of this parasite and highlights the potential role of wild birds as Pelecitus reservoirs, and health risk for humans and wildlife.


Subject(s)
Bird Diseases/parasitology , Filariasis/veterinary , Filarioidea/isolation & purification , Raptors/parasitology , Animals , Animals, Wild/parasitology , Bird Diseases/pathology , Filariasis/parasitology , Filariasis/pathology , Filarioidea/classification , Filarioidea/genetics
7.
Colomb. med ; 46(4): 162-167, Oct.-Dec. 2015. ilus
Article in English | LILACS | ID: lil-774949

ABSTRACT

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.


Objetivos: Presentar la epidemiología descriptiva en torno a las Fisuras Orofaciales y determinar asociaciones entre Fisuras Orofaciales sindromica y antecedentes antenatales de alto riesgo, parto pretérmino, y comorbilidades en una población Colombiana. Métodos: Se planteó un estudio de serie de casos anidado estratificado. Se calcularon frecuencias en relación al tipo de fisura desde el punto de vista anatómico, anomalías congénitas paralelas, morbilidades y forma clínica. Se analizó la distribución de las Fisuras Orofaciales de acuerdo al género y lateralidad. Se determinaron razones de disparidad entre la forma sindrómica y antecedentes antenatales de alto riesgo, parto pretérmino, y comorbilidades. Se evaluaron trecientos once pacientes que asistieron a la consulta de genética clinica durante un año. Resultados: La Fisura Labio-palatina fue el tipo más frecuente en la muestra evaluada y la más frecuente en hombres. La Fisura Palatina fué la más frecuente en mujeres, la forma clínica más común fue la no sindrómica. En la población sindrómica el Síndrome de Aarskog-Scott mostró la frecuencia más alta. Los trastornos Hipertensivos de Embarazo, la Displasia del Desarrollo de la Cadera, las enfermedades respiratorias y del sistema nervioso central mostraron una asociación estadísticamente significativa con la forma sindrómica. (p <0.05). Conclusiones: Estos datos ofrecen una referencia epidemiológica descriptiva de las Fisuras Orofaciales en Colombia. Las asociaciones encontradas entre los aspectos clínicos estudiados y la forma sindrómica, deben ser investigadas en próximos estudios con el fin de determinar relaciones de causalidad.


Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Middle Aged , Cleft Lip/epidemiology , Cleft Palate/epidemiology , Age Distribution , Colombia/epidemiology , Dwarfism/epidemiology , Face/abnormalities , Genetic Diseases, X-Linked/epidemiology , Genitalia, Male/abnormalities , Hand Deformities, Congenital/epidemiology , Heart Defects, Congenital/epidemiology , Sex Distribution , Syndrome
8.
Colomb Med (Cali) ; 46(4): 162-7, 2015 Dec 30.
Article in English | MEDLINE | ID: mdl-26848196

ABSTRACT

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.


OBJETIVOS: Presentar la epidemiología descriptiva en torno a las Fisuras Orofaciales y determinar asociaciones entre Fisuras Orofaciales sindromica y antecedentes antenatales de alto riesgo, parto pretérmino, y comorbilidades en una población Colombiana. MÉTODOS: Se planteó un estudio de serie de casos anidado estratificado. Se calcularon frecuencias en relación al tipo de fisura desde el punto de vista anatómico, anomalías congénitas paralelas, morbilidades y forma clínica. Se analizó la distribución de las Fisuras Orofaciales de acuerdo al género y lateralidad. Se determinaron razones de disparidad entre la forma sindrómica y antecedentes antenatales de alto riesgo, parto pretérmino, y comorbilidades. Se evaluaron trecientos once pacientes que asistieron a la consulta de genética clinica durante un año. RESULTADOS: La Fisura Labio-palatina fue el tipo más frecuente en la muestra evaluada y la más frecuente en hombres. La Fisura Palatina fué la más frecuente en mujeres, la forma clínica más común fue la no sindrómica. En la población sindrómica el Síndrome de Aarskog-Scott mostró la frecuencia más alta. Los trastornos Hipertensivos de Embarazo, la Displasia del Desarrollo de la Cadera, las enfermedades respiratorias y del sistema nervioso central mostraron una asociación estadísticamente significativa con la forma sindrómica. (p <0.05). CONCLUSIONES: Estos datos ofrecen una referencia epidemiológica descriptiva de las Fisuras Orofaciales en Colombia. Las asociaciones encontradas entre los aspectos clínicos estudiados y la forma sindrómica, deben ser investigadas en próximos estudios con el fin de determinar relaciones de causalidad.


Subject(s)
Cleft Lip/epidemiology , Cleft Palate/epidemiology , Adolescent , Adult , Age Distribution , Child , Child, Preschool , Colombia/epidemiology , Dwarfism/epidemiology , Face/abnormalities , Female , Genetic Diseases, X-Linked/epidemiology , Genitalia, Male/abnormalities , Hand Deformities, Congenital/epidemiology , Heart Defects, Congenital/epidemiology , Humans , Infant , Infant, Newborn , Male , Middle Aged , Sex Distribution , Syndrome
9.
Rev. salud pública ; 15(5): 683-692, set.-oct. 2013.
Article in Spanish | LILACS | ID: lil-709092

ABSTRACT

RESUMEN Existen diferentes modelos para explicar cómo la evidencia de la investigación se utiliza en los procesos de formulación de políticas sobre los sistemas de salud. En este artículo argumentamos que los modelos que se desarrollaron desde el contexto clínico, como el de políticas basadas en la evidencia, pueden ser útiles en algunas decisiones políticas. Sin embargo, debido a su "silencio" sobre el contexto político, estos modelos son incompatibles con las decisiones relacionadas con la modificación de los arreglos de los sistemas de salud. Otros modelos, generados desde las ciencias políticas, son más útiles para entender que la investigación es uno solo de los factores que afecta la toma de decisiones y que diferentes tipos de evidencia científica pueden ser utilizados de manera instrumental, conceptual o estratégica en diferentes etapas del proceso de formulación de políticas.


ABSTRACT Different models may be used for explaining how research-based evidence is used in healthcare system policy-making. It is argued that models arising from a clinical setting (i.e. evidence-based policy-making model) could be useful regarding some types of healthcare system decision-making. However, such models are "silent" concerning the influence of political contextual factors on healthcare policy-making and are thus inconsistent with decision-making regarding the modification of healthcare system arrangements. Other political science-based models would seem to be more useful for understanding that research is just one factor affecting decision-making and that different types of research-based evidence can be used instrumentally, conceptual or strategically during different policy-making stages.


Subject(s)
Humans , Biomedical Research , Clinical Decision-Making , Delivery of Health Care , Evidence-Based Practice , Health Policy , Policy Making , Colombia
10.
Rev Salud Publica (Bogota) ; 15(5): 684-93, 2013.
Article in Spanish | MEDLINE | ID: mdl-25124244

ABSTRACT

Different models may be used for explaining how research-based evidence is used in healthcare system policy-making. It is argued that models arising from a clinical setting (i.e. evidence-based policy-making model) could be useful regarding some types of healthcare system decision-making. However, such models are "silent" concerning the influence of political contextual factors on healthcare policy-making and are thus inconsistent with decision-making regarding the modification of healthcare system arrangements. Other political science-based models would seem to be more useful for understanding that research is just one factor affecting decision-making and that different types of research-based evidence can be used instrumentally, conceptual or strategically during different policy-making stages.


Subject(s)
Biomedical Research , Clinical Decision-Making , Delivery of Health Care , Evidence-Based Practice , Health Policy , Policy Making , Colombia , Humans
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