Anemia falciforme: una revisión sobre el genotipo de la enfermedad, haplotipos, diagnóstico y estudios asociados / Disease genotype, haplotypes, diagnosis and associated studies in sickle cell anemia

Sickle cell anemia is a type of hemoglobinopathy characterized by a specific mutation in the beta globin gene with the consequent generation of an unstable hemoglobin that crystallizes in a state of hypoxia. This causes a change in the structure of the red blood cell, which ends up producing vaso-occlusion with the corresponding clinical complications for the patient. Worldwide, various diagnostic tests have been developed that allow the appropriate approach to the affected patient. These include techniques for the determination of hemoglobin and the use of molecular markers, among others. There are new therapeutic alternatives to the use of hydroxyurea and L-glutamine, such as the use of gene therapy tools. The most recent experimental trials are exploring gene editing techniques.

Conocimientos y prácticas de médicos generales en el manejo de la ginecomastia / Knowledge and practices of gynecomastia of non-specialist's doctors / Conhecimentos e práticas de clínicos gerais no gerenciamento de ginecomastia

Introducción. La ginecomastia es un trastorno endocrinológico con alta prevalencia y morbilidad, sin documentación epidemiológica local que guíe a los médicos generales para la identificación y manejo individualizado.Objetivo. Identificar y asociar los conocimientos de los médicos generales encuestados con las prác-ticas de su ejercicio profesional cotidiano ante posibles casos de ginecomastia.Materiales y método. Estudio descriptivo de corte transversal y enfoque cuantitativo, en el que, posterior a la validación del instrumento y consentimiento informado tácito, se aplicó a una muestra poblacional de 170 médicos durante el periodo comprendido entre febrero y mayo de 2018.Resultados. El departamento de Boyacá representó el principal punto de localización geográfica de los entrevistados, la mayoría de ellos activos en los servicios de consulta externa y urgencias de insti-tuciones de salud de nivel I de atención, egresados de universidades privadas, con tiempo de ejercicio profesional inferior a 10 años. Un alto porcentaje de los encuestados acertaron en los interrogantes referidos a conceptos teóricos, y solo el 12,9%, respecto la clasificación clínica.Conclusiones. Los médicos generales encuestados recuerdan conocimientos teóricos, pero tienen visibles dificultades para su aplicabilidad práctica. Existe correlación entre el "tiempo de ejercicio pro-fesional" y la aplicación de la "técnica del examen físico de la mama ante un caso de ginecomastia", así como entre la práctica de algunas actividades médicas, el acierto en varias preguntas del saber y la universidad de egreso.

Introduction. Gynecomastia is an endocrinological disorder with high prevalence and morbidity, without local epidemiological documentation that involves general practitioners for identification and individualized management by non-specialist's doctors.Objective. Identify and associate the knowledge of general practitioners surveyed with the practices performed within their daily professional practice in the event of gynecomastia. Materials and method. It is a cross-sectional descriptive study with quantitative approach, in which after the validation of the instrument and the informed consent, it was applied in a population sample of 170 doctors during February to May 2018. Results. Boyacá department was the main point of geographic location of the interviewees, most of them active in the outpatient services and the urgencies on 1st level health care institutions, gradua-ted from private universities, with professional exercise time less than 10 years. The majority of the respondents knows concepts referred to theoretical aspects, but only to 12,9%, regarding the clinical classification.Conclusions. Non-specialist's doctors surveyed, remember the theoretical knowledge, but the di-fficulty of its practical application is visible. There is a correlation between the time of professional practice and the application of the technique of the physical examination of a case of gynecomastia, as well as the practice of some medical activities, knowledge appropriate and university of under grade studies

Introdução. A ginecomastia é um distúrbio endocrinológico com alta prevalência e morbidade, sem documentação epidemiológica local que orienta os médicos de clínica geral para identificação e manejo individualizados.Objetivo. Identificar e associar o conhecimento dos médicos clínicos gerais pesquisados, com as prá-ticas de seu exercício profissional em caso de possíveis casos de ginecomastia.Materiais e método. Estudo transversal descritivo de enfoque quantitativo, no qual, após a validação do instrumento e o consentimento informado tácito, foi aplicado a uma amostra populacional de 170 médicos no período de fevereiro a maio de 2018.Resultados. O departamento de Boyacá representou o principal ponto de localização geográfica dos entrevistados, a maioria deles ativos nos serviços ambulatoriais e de emergência das instituições de saúde de nível I, graduados de universidades particulares, com tempo de exercício profissional infe-rior a 10 anos. Um alto percentual de entrevistados acertou nas questões relacionadas aos conceitos teóricos, e apenas 12,9%, quanto à classificação clínica.Conclusões. Os médicos clínicos gerais pesquisados lembram conhecimentos teóricos, mas têm difi-culdades visíveis para sua aplicabilidade prática. Existe correlação entre o "tempo de exercício profis-sional" e a aplicação da "técnica de exame físico da mama frente a um caso de ginecomastia", bem como entre a prática de algumas atividades médicas e o acerto em diversas questões do conhecimen-to e da universidade de graduação

Estudios sobre ADN mitocondrial sugieren un linaje predominante en la cordillera Oriental de Colombia y un vínculo suramericano para los arcaicos de Puerto Rico / Mitochondrial DNA studies suggest a predominant lineage in the Eastern Cordillera of Colombia and South American link for the archaics of Puerto Rico

Objetivo: Este trabajo integra información de la secuencia del ADNmt del norte de Suramérica con Puerto Rico, con el fin de comprender el poblamiento del Caribe, especialmente de los taínos. De paso, arroja información sobre hechos demográficos en la Colombia precolombina. Metodología: Se obtuvieron 59 muestras de Colombia y Venezuela, las cuales fueron analizadas junto a otras dos pertenecientes a los indios warao y disponibles en el Genbank. Se alinearon secuencias HVR-I y II (Hypervariable Region) y se compararon con el rCRS. El 93,4% de las muestras resultaron ser de origen amerindio. Resultados: Un venezolano exhibió mutaciones relacionadas con el linaje antiguo C-II de Puerto Rico, el cual se estima que arribó a Puerto Rico en la era prearahuaca. Mediante secuenciación completa del ADNmt se demostró que esta muestra, VE6, pertenece al cladoamericano nativo C1b. Dos personas de Colombia y Venezuela presentaban la transición 16129 que define el linaje A-VIII de Puerto Rico. Dicha transición dentro del haplogrupo A también se haencontrado en los ciboneyes de Cuba y en otras tribus americanas. La deleción de un par de bases –498d– define el linaje B-I de Colombia (Bogotá y Villa de Leyva, Boyacá), un polimorfismo encontrado en los departamentos correspondientes a la cordillera Oriental y que se extiende al Valle del Cauca y a Panamá. Conclusión: Este linaje experimentó una expansión demográfica en la cordillera Oriental que lo llevó a expandirse geográficamente hasta Panamá. Sería recomendable ampliar el muestreo de la costa norte de Colombia y Venezuela, para encontrar más conexiones precolombinas con Puerto Rico. Además, sería conveniente verificar la distribución geográfica de 498d con un muestreo más numeroso y que cubra una zona más amplia de Colombia.

Objetive: This work integrates sequencing information of mtDNA from Northern South America with Puerto Rico, to reach an understanding of the peopling of the Caribbean, especially the Tainos. At the same time, it sheds light on demographic events in the Pre-Columbian Colombia. Methodology: Fifty nine samples from Colombia and Venezuela were obtained, and then analyzed along with two others from Warao Indians available in Genbank. HVR (Hypervariable Region) I andII sequences were aligned and compared to the rCRS. Fully 93,4% of the mtDNA samples were shown to be of Amerindian origin. Results: A Venezuelan exhibited ancient mutations related to lineage C-II of Puerto Rico, which has been estimated to have arrived to this island in pre-Arawak times. Through complete mtDNA sequencing, it was shown that this sample, VE6, belongs to the Native American C1b clade. Two individuals from Colombia and Venezuela showed the 16129 transition that defines lineage A-VIII of Puerto Rico. This transition has also been found in the Cuban Ciboneys and in various American tribes. A one base pair deletion –498d–defines lineage B-I from Colombia (Bogotá and “Villa de Leyva”, Boyacá), a polymorphism found in the departments belonging to the Eastern cordillera and extending to the Cauca Valley and Panamá. Conclusions: This lineage went through a demographic expansion in the Eastern Cordillera that may have triggered its geographic expansion to Panamá. It would be recommendable to expand the sampling of the Northern Coast of Colombia and Venezuela to find more pre-Columbian connections with Puerto Rico. Furthermore, it would be convenient to verify the geographic distribution of 498d with a bigger sample covering a wider region of Colombia.

Analysis of diversity among six populations of Colombian mango (Mangifera indica L. cvar. Hilacha) using RAPDs markers

Currently in Colombia, there are only records of morph-agronomic characterizations of Mangifera indica cvar. Hilacha; molecular studies on this mango variety have not been carried out. The aim of this work was to identify the genetic diversity of six populations of mango Hilacha by RAPDs markers, as a fundamental base for breeding programs, conservation and selection of promissory materials for the fruit industry at the national level. From 60 primers evaluated in the populations, five primers were selected and were launched in the six populations. Polymorphic bands of RAPDs were transformed into binary matrices, which were then processed with NTSYS-PC, POPGENE and TFPGA softwares. The overall genetic diversity, H T = 0.468 +/- 0.0016, is very similar to the average subpopulation genetic diversity, H S = 0.4431 +/- 0.0024, which revealed a small genetic differentiation among the mango Hilacha populations studied (G ST = 0.0532). This means that each population contained in average 95 percent of the total genetic diversity found in the global population analyzed. Considerable gene flow between populations (Nm = 9) was found. Finally, we recommend studying the genetic diversity of mango Hilacha populations with other molecular markers to complement the information obtained and to find similarities or differences with the results presented herein.