A phased genome assembly of a Colombian Trypanosoma cruzi TcI strain and the evolution of gene families.

Chagas is an endemic disease in tropical regions of Latin America, caused by the parasite Trypanosoma cruzi. High intraspecies variability and genome complexity have been challenges to assemble high quality genomes needed for studies in evolution, population genomics, diagnosis and drug development. Here we present a chromosome-level phased assembly of a TcI T. cruzi strain (Dm25). While 29 chromosomes show a large collinearity with the assembly of the Brazil A4 strain, three chromosomes show both large heterozygosity and large divergence, compared to previous assemblies of TcI T. cruzi strains. Nucleotide and protein evolution statistics indicate that T. cruzi Marinkellei separated before the diversification of T. cruzi in the known DTUs. Interchromosomal paralogs of dispersed gene families and histones appeared before but at the same time have a more strict purifying selection, compared to other repeat families. Previously unreported large tandem arrays of protein kinases and histones were identified in this assembly. Over one million variants obtained from Illumina reads aligned to the primary assembly clearly separate the main DTUs. We expect that this new assembly will be a valuable resource for further studies on evolution and functional genomics of Trypanosomatids.

New Ascomycetes from the Mexican Tropical Montane Cloud Forest.

The tropical montane cloud forest is the most diverse and threatened vegetation type in Mexico. In the last decade, the number of described Ascomycetes species has notably increased, reaching more than 1300 species. This study describes six new species based on their molecular and morphological characteristics. Our results suggest that Mexico has the highest number of described species in the Neotropics. However, many other Mexican lineages still need to be described.

Characteristics and factors associated with mortality due to rare diseases in Chile, 2002-2017 / Caracterización y factores asociados a la mortalidad debida a enfermedades huérfanas en Chile, 2002-2017.

Introduction: Rare diseases are characterized by their low prevalence, chronically debilitating and life-threatening nature. Objective: To determine the characteristics and factors associated with mortality due to rare diseases in Chile from 2002 to 2017. Materials and methods: We conducted an analytical cross-sectional study based on secondary mortality database from the Departamento de Estadística e Información en Salud (DEIS), Ministerio de Salud de Chile (Department of Statistics and Health Information, Chile Ministry of Health) from 2002 to 2017. The specific mortality rates adjusted by age and sex were calculated. A normality analysis was conducted using the Kolmogorov-Smirnov test. In addition, a chi-square test of independence for associations and multivariate logistic regression was applied to determine the probability of death. Results: Between 2008 and 2012 there were 10,718 deaths due to rare diseases, 53.2% of them occurred among women. The average annual mortality rate was 3.9 per 100,000 inhabitants: 4.1 in women and 3.8 in men. The main causes of mortality among women were Creutzfeldt-Jakob disease, anencephaly and autoinmune hepatitis, and among men, Creutzfeldt-Jakob disease, muscular dystrophy and anencephaly. Women are 1.75 times more likely to die than men (adjusted Odds Ratio (aOR) = 1.75; 95% CI: 1.69 - 1.82). The highest probability of dying occurred among children aged 0-4 years (aOR = 15.30; 95% CI: 14.10 - 19.20). Conclusion: Overall, the burden of mortality due to rare disease was higher among women of all ages in Chile between 2002 and 2017.

Introducción. Las enfermedades huérfanas se caracterizan por su baja prevalencia, comúnmente son de evolución crónica, debilitantes y potencialmente mortales. Objetivo. Determinar las características y los factores asociados a la mortalidad por enfermedades huérfanas en Chile, entre 2002 y 2017. Materiales y métodos. Es un estudio transversal y analítico a partir de datos secundarios oficiales del Departamento de Estadística e Información en Salud (DEIS) del Ministerio de Salud de Chile. Se calcularon las tasas de mortalidad específica, y las ajustadas por sexo y edad. Se efectuó un análisis de normalidad mediante la prueba de Kolmogórov-Smirnov. Se aplicaron la prueba de ji al cuadrado de independencia para las asociaciones y el análisis de regresión logística multivariada para determinar la probabilidad de muerte. Resultados. Durante el periodo de estudio, 10.718 defunciones se atribuyeron a enfermedades huérfanas; 53,2 % ocurrieron en mujeres. La tasa media anual de mortalidad fue de 3,9 por 100.000 habitantes: 4,1 en mujeres y 3,8 en hombres. Las principales causas de muerte, en mujeres, fueron enfermedad de Creutzfeldt-Jakob, anencefalia, hepatitis autoinmunitaria y, en hombres, enfermedad de Creutzfeldt-Jakob, distrofia muscular y anencefalia. Las mujeres tienen 1,75 más veces la posibilidad de fallecer por este grupo de enfermedades en comparación con los hombres (OR ajustado=1,75; IC95% 1,69-1,82). La mayor probabilidad de morir se presentó en los menores de 0 a 4 años (OR ajustado=15,30; IC95% 14,10-19,20). Conclusión. En Chile, las mujeres constituyeron el grupo de población de mayor riesgo de morir por enfermedades huérfanas durante los años 2002 y 2017.

La epidemiología de la hipertensión pulmonar / The epidemiology of pulmonary hypertension

Desde las perspectivas actuales, la hipertensión pulmonar es considerada un importante problema sanitario. El objetivo del artículo fue identificar las características epidemiológicas e historia natural de la hipertensión pulmonar en el contexto internacional y principalmente en la región americana. El conocimiento de la epidemiología de la hipertensión pulmonar ha experimentado un notable desarrollo con los resultados de los registros americanos, franceses, suizos, entre otros. Reportes iniciales consideraban que la enfermedad afectaba a pacientes jóvenes (edad promedio 36 años), siendo casi dos veces más frecuente en mujeres que en varones (1,7:1) y con una incidencia de 1-2 casos/1 000 000 habitantes/año y afecta a todos los grupos etarios. Las estimaciones actuales sugieren una prevalencia alrededor del 1 por ciento de la población mundial y aumenta hasta el 10 por ciento en los mayores de 65 años. La enfermedad auricular o ventricular izquierda y las enfermedades pulmonares son la causa más frecuente de hipertensión pulmonar. En Cuba no hay datos epidemiológicos disponibles sobre esta entidad. Los programas que ayuden a su conocimiento por la población médica se deben reforzar e impulsar un registro único de datos(AU)

From current perspectives, pulmonary hypertension is considered a major health problem. The present work was carried out to identify the epidemiological characteristics and natural history of pulmonary hypertension in the international context and mainly in the Americas. Knowledge of the epidemiology of pulmonary hypertension has undergone a remarkable development with the results of the American, French, and Swiss registries, among others. Initial reports considered that the disease affected young patients (average age 36 years), being almost twice more frequent in women than in men (1.7:1) and with an incidence of 1-2 cases/1,000,000 inhabitants/ year and affects all age groups. Current estimates suggest a prevalence around 1 percent of the world population and increases to 10 percent in those over 65 years of age. Left atrial or left ventricular disease and pulmonary diseases are the most common cause of pulmonary hypertension. In Cuba there are no epidemiological data available on this entity. The programs that help their knowledge by the medical population must be reinforced and promote a single data registry(AU)

Clinical and Descriptive Study of Orofacial Clefts in Colombia: 2069 Patients From Operation Smile Foundation.

OBJECTIVE: To describe the population of patients with cleft lip and/or palate (CL/P) in terms of cleft phenotypes, gender, age, ethnic group, family history, clinical presentation (syndromic vs nonsyndromic), some environmental and behavioral factors, and some clinical features. DESIGN: Descriptive retrospective study. SETTING: Patients attending the genetics counseling practice in Operation Smile Foundation, Bogotá, Colombia, for over 8 years. PARTICIPANTS: No screening was conducted. All patients requiring clinical genetics assessment in Operation Smile Foundation were included in the study. RESULTS: Left cleft lip and palate (CLP) and nonsyndromic forms were the most frequent types of malformations in this population. Psychomotor retardation and heart disease were the most frequent comorbidities in these patients. A low proportion of mothers exposed to passive smoking during pregnancy was observed and low birth weight accounted for an important number of cases. Aarskog, velocardiofacial, and orofaciodigital syndromes were the most frequent syndromic forms of CLP in this population. CONCLUSIONS: In this study, the most frequent type of CL/P was the nonsyndromic complete left CLP. Aarskog, velocardiofacial, and orofaciodigital syndromes were the most frequent syndromic forms of CL/P in this population.

Experiencia inicial de la revascularización coronaria percutánea mediante el acceso transradial en el Instituto de Cardiología y Cirugía Cardiovascular / Initial experience of percutaneous coronary revascularization through transradial access at the Institute of Cardiology and Cardiovascular Surgery

Introducción: En los últimos años la utilización de la vía radial como forma de acceso para la realización de estudios diagnósticos e intervencionista ha cobrado mayor importancia e interés dentro de los servicios de cardiología intervencionista a nivel mundial. Nuestro país no escapa de este auge por la baja tasa de complicación y la mayor comodidad para el paciente. Objetivo: Caracterizar la intervención coronaria percutánea mediante la vía de acceso radial en pacientes atendidos en el Instituto de Cardiología y Cirugía Cardiovascular. Método: Estudio observacional, descriptivo, transversal. Muestra compuesta por 211 pacientes a los que se les realizó intervencionismo coronario percutáneo mediante la vía de acceso radial. Resultados: Predominó el sexo masculino (61,2 por ciento). La edad media fue 60,1 ±9,8 años. El Síndrome Coronario Crónico (76,3 por ciento ) fue el diagnóstico mayoritario, la hipertensión arterial el factor de riesgo más frecuente (73,9 por ciento ) y entre los antecedentes personales la cardiopatía isquémica (30,3 por ciento ). El intervencionismo de forma electiva se realizó en el 76,3 de los casos, utilizando la vía radial derecha en el 88,2 por ciento . Se demostró enfermedad de 2 y 3 vasos en el 45,1 por ciento de los pacientes. El proceder fue exitoso en el 96,7 por ciento de los pacientes. Las variables que demostraron relación estadísticamente significativa con el fracaso fueron: fracción de eyección del ventrículo izquierdo < 40 por ciento (p<0.0001), filtrado glomerular ≤ 60 ml/min (p=0.002), antecedente de cardiopatía isquémica (p= 0.016) y presencia de enfermedad coronaria de 3 vasos (p= 0.019). Conclusiones: La intervención coronaria percutánea mediante el acceso radial en el ICCCV es segura y eficaz, con una tasa de éxito elevada y escasas complicaciones(AU)

Introduction: In recent years the use of the radial approach as a form of access for diagnostic and interventional studies has become increasingly important and of interest in interventional cardiology services worldwide. Our country has not escaped this boom due to the low complication rate and greater patient comfort. Objective: To characterise percutaneous coronary intervention using the radial access route in patients attended at the Institute of Cardiology and Cardiovascular Surgery. Methods: Observational, descriptive, cross-sectional study. The sample consisted of 211 patients who underwent percutaneous coronary intervention via the radial access route. Results: Male sex predominated (61.2 percent). Mean age was 60.1 ±9.8 years. Chronic coronary syndrome (76.3 percent) was the most common diagnosis, hypertension the most frequent risk factor (73.9) percent and ischaemic heart disease (30.3 percent ). Elective intervention was performed in 76.3 percent of cases, using the right radial approach in 88.2 percent . Two- and three-vessel disease was demonstrated in 45.1 percent of patients. The procedure was successful in 96.7 percent of patients. Variables demonstrating statistically significant relationship with failure were: left ventricular ejection fraction < 40 percent (p(0.0001), glomerular filtration rate ≤ 60 ml/min (p=0.002), history of ischaemic heart disease (p= 0.016) and presence of 3-vessel coronary artery disease (p= 0.019). Conclusions: Percutaneous coronary intervention via radial access in ICCCV is safe and effective, with a high success rate and few complications(AU)

Pneuma: receta colonial eficaz en el tratamiento de la disnea / Pneuma: colonial prescription effective in treatment of dyspnea

Objetivo: el archivo histórico Cipriano Rodríguez Santa María de la Universidad de La Sabana cuenta con múltiples recetas médicas empleadas por médicos y boticarios en el Nuevo Reino de Granada. Una de ellas prescribe el cacao para disminuir síntomas generados por afecciones del sistema respiratorio. Objetivos: describir el análisis de una receta médica empleada entre los siglos XVIII y XIX para el tratamiento del ahogo y describir la propiedad fitoterapéutica del cacao conocida gracias a la evidencia científica actual. Materiales y métodos: búsqueda documental en el Archivo Histórico Cipriano Rodríguez Santamaría de la Biblioteca Octavio Arizmendi Posada de la Universidad de La Sabana. Transcripción y análisis del documento denominado "Ahogo" y revisión de la literatura científica actual, así como de los textos originales, sin límite de tiempo. Resultados: la receta médica describe las características del cacao (Theobroma cacao) como agente fitoterapéutico con propiedades antiinflamatorias, analgésicas, antioxidantes e inmunomoduladoras aportadas por componentes como los ácidos oleico, esteárico, palmítico y flavonoides entre otros. La teobromina ejerce efectos broncodilatadores y antitusivosConclusiones: el legado histórico colonial conservado en los archivos locales permite comprender racionalmente las propiedades de los agentes herbarios empleados para enfermedades y síntomas asociados. Existe evidencia científica que respalda el uso del cacao para disminuir la sintomatología asociada con el ahogo. Pese a ello, la escasa o nula descripción de la posología y los efectos secundarios, dificulta analizar la eficacia de esta tradición. En consecuencia, no se puede establecer su eficacia científicamente.

Objetive: The Cipriano Rodríguez Santamaria Historical Archive at Universidad de La Sabana includes multiple medical prescriptions used by physicians and apothecaries in the New Kingdom of Granada. Among them, cocoa was prescribed to relieve symptoms generated by respiratory diseases. Objectives: to describe the analysis of a medical prescription used between the 18th and 19th centuries to treat shortness of breath ("ahogo") and to describe the phytotherapeutic properties of cocoa through current scientific evidence. Materials and Methods: a documentary search in the Cipriano Rodríguez Santamaria Historical Archive: Octavio Arizmendi Posada Library, Universidad de La Sabana. Transcription and analysis of the document named "ahogo" and review of the current scientific literature, as well as, of the original texts, with no time limit. Results: the medical prescription describes the characteristics of cocoa (Theobroma cacao) as a phytotherapeutic agent featuring anti-inflammatory, analgesic, antioxidant and immunomodulatory properties provided by components such as oleic, stearic, palmitic and flavonoid acids, among others. Theobromine exerts a bronchodilator and antitussive effect. Conclusions: the colonial historical legacy preserved in local archives allows a rational understanding of the properties of herbal agents as treatment for diseases and their symptoms. There is scientific evidence supporting the use of cocoa to reduce the symptoms associated with dyspnea. However, little or no description of dosage and side effects makes it difficult to analyze the efficacy of this tradition. Consequently, its efficacy cannot be scientifically established.

De curandis hominum morbis: An 18th century medical prescription for measles and smallpox in the Nuevo Reino de Granada / De curandis hominum morbis: una receta médica del siglo XVIII para el sarampión y las viruelas en el Nuevo Reino de Granada

A collection of more than one hundred medical recipes from the late 18th century was donated by Presbyter Cipriano Rodríguez Santa María, institutional eponym of the collection at the Historical Archive "Octavio Arizmendi Posada" of the library of the Universidad de La Sabana in Colombia. These texts represent an important historical and medical legacy and they constitute an important basis for understanding the colonial and traditional therapeutics related to various diseases. In this article, we describe one of these recipes for the treatment of smallpox and measles as a contribution to the history of medicine in Colombia.

En el Archivo Histórico de la Biblioteca "Octavio Arizmendi Posada" de la Universidad de La Sabana, se encuentra una colección de más de un centenar de recetas médicas de finales del siglo XVIII donadas por el presbítero Cipriano Rodríguez Santa María, epónimo institucional del archivo. Estos textos son un legado histórico médico y un fundamento para comprender la terapéutica colonial y tradicional de diversas enfermedades. En este artículo, se describen algunas recetas para el tratamiento de la viruela y el sarampión, como aporte a la historia de la medicina en Colombia.

The Importance of investigating Mycobacterium bovis in clinical samples of human origin / La importancia de investigar Mycobacterium bovis en muestras clínicas de procedencia humana

Introduction: Tuberculosis is an infectious disease that still represents a major public health problem worldwide. It is one of the main causes of mortality in people with HIV. Objective: To identify the presence of M. bovis as an etiological agent of human tuberculosis in sputum smear positive samples using the test Genotype MTBC™. Materials and methods: We conducted a descriptive study, 88 sputum samples were submitted to the Grupo de Micobacterias of the Instituto Nacional de Salud between January and November, 2015. We used the conventional microbiological analysis and the molecular test Genotype MTBC™ to identify the M. tuberculosis complex species. Results: Sixty two (70.5%) were males; the most affected groups were those between 24 and 34 years old, those residing in the municipal seats and those affiliated to the subsidized health plans. In 50.0% (44) of the samples with a result in the species identification test, we detected M. tuberculosis. Conclusion: The highest burden of the disease was recorded among the male population in productive ages. The identification test for species of the complex showed all were M. tuberculosis. However, it is not possible to discard the presence of M. bovis in humans in Colombia. The differential identification of species should be done in risk groups and in areas where the circulation of this mycobacterium in cattle is known.

Introducción. La tuberculosis es una enfermedad infectocontagiosa que continúa siendo un problema mundial de salud pública. Es la principal causa de mortalidad en personas con HIV. Objetivo. Identificar la presencia de Mycobacterium bovis como agente etiológico de tuberculosis humana en muestras de esputo con baciloscopia positiva, mediante la prueba Genotype MTBC™. Materiales y métodos. Se llevó a cabo un estudio descriptivo de 88 muestras de esputo remitidas al Grupo de Micobacterias del Instituto Nacional de Salud entre enero y noviembre de 2015. Se hizo el análisis microbiológico convencional y se empleó la prueba molecular de Genotype MTBC™ para diferenciar las especies del complejo M. tuberculosis. Resultados. Sesenta y dos casos (70,5 %) correspondían a pacientes de sexo masculino; los grupos más afectados fueron el de 24 a 34 años, el de residentes en las cabeceras municipales, y el de afiliados al régimen subsidiado. En el 50 % (44) de las muestras con resultados en la prueba de identificación de la especie, se detectó el complejo M. tuberculosis. Conclusiones. La mayor carga de la enfermedad se registró en la población masculina y en edad productiva. La prueba de identificación para especies del complejo, solo demostró la presencia de M. tuberculosis. Sin embargo, con estos datos no es posible descartar M. bovis en humanos con tuberculosis en Colombia. La identificación diferencial de la especie debería implementarse de forma rutinaria en los casos de tuberculosis en los grupos de riesgo y en las zonas donde se conoce la circulación de esta micobacteria en bovinos.

La importancia de investigar Mycobacterium bovis en muestras clínicas de procedencia humana / Importance of investigating Mycobacterium bovis in clinical samples of human origin

Resumen Introducción. La tuberculosis es una enfermedad infectocontagiosa que continúa siendo un problema mundial de salud pública. Es la principal causa de mortalidad en personas con HIV. Objetivo. Identificar la presencia de Mycobacterium bovis como agente etiológico de tuberculosis humana en muestras de esputo con baciloscopia positiva, mediante la prueba Genotype MTBC™. Materiales y métodos. Se llevó a cabo un estudio descriptivo de 88 muestras de esputo remitidas al Grupo de Micobacterias del Instituto Nacional de Salud entre enero y noviembre de 2015. Se hizo el análisis microbiológico convencional y se empleó la prueba molecular de Genotype MTBC™ para diferenciar las especies del complejo M. tuberculosis. Resultados. Sesenta y dos casos (70,5 %) correspondían a pacientes de sexo masculino; los grupos más afectados fueron el de 24 a 34 años, el de residentes en las cabeceras municipales, y el de afiliados al régimen subsidiado. En el 50 % (44) de las muestras con resultados en la prueba de identificación de la especie, se detectó el complejo M. tuberculosis. Conclusiones. La mayor carga de la enfermedad se registró en la población masculina y en edad productiva. La prueba de identificación para especies del complejo, solo demostró la presencia de M. tuberculosis. Sin embargo, con estos datos no es posible descartar M. bovis en humanos con tuberculosis en Colombia. La identificación diferencial de la especie debería implementarse de forma rutinaria en los casos de tuberculosis en los grupos de riesgo y en las zonas donde se conoce la circulación de esta micobacteria en bovinos.

Abstract Introduction: Tuberculosis is an infectious disease that still represents a major public health problem worldwide. It is one of the main causes of mortality in people with HIV. Objective: To identify the presence of M. bovis as an etiological agent of human tuberculosis in sputum smear positive samples using the test Genotype MTBC™. Materials and methods: We conducted a descriptive study, 88 sputum samples were submitted to the Grupo de Micobacterias of the Instituto Nacional de Salud between January and November, 2015. We used the conventional microbiological analysis and the molecular test Genotype MTBC™ to identify the M. tuberculosis complex species. Results: Sixty two (70.5%) were males; the most affected groups were those between 24 and 34 years old, those residing in the municipal seats and those affiliated to the subsidized health plans. In 50.0% (44) of the samples with a result in the species identification test, we detected M. tuberculosis. Conclusion: The highest burden of the disease was recorded among the male population in productive ages. The identification test for species of the complex showed all were M. tuberculosis. However, it is not possible to discard the presence of M. bovis in humans in Colombia. The differential identification of species should be done in risk groups and in areas where the circulation of this mycobacterium in cattle is known.

[Los niveles de mediadores prorresolutivos no corresponden con los de mediadores inflamatorios en enfermedades isquémicas coronarias].

BACKGROUND: Inflammation can be grouped into three phases: proinflammatory, anti-inflammatory, and resolution. The latter, mainly attributed to lipid mediators, is the most recently described, and has been studied little in coronary ischemic diseases. OBJECTIVE: To evaluate 1) if acute coronary syndromes (ACS) manifest different circulating levels of resolution mediators compared with stable angina (SA); 2) if their concentrations are related to those of pro and anti-inflammatory mediators; and 3) if such concentrations are associated with the severity of the disease and the damage produced. METHOD: LTB4, RvD1, LXA4, ET-1, MMP-2, MMP-9, TIMP-1, IL-1ß, IL-6, IL-8 and IL-10 were measured in serum. The GRACE score was established as parameter of gravity, and LVEF as a damage parameter. RESULTS: Thirty patients with SA, 37 with NEST-ACS, 38 with STEMI, and 10 individuals with non-cardiogenic chest pain were included. Patients with coronary artery disease showed elevated levels of inflammatory cytokines and low levels of resolution mediators. CONCLUSIONS: The low resolution response even in patients with acute coronary disease suggests an inability to repair damage. Testing this hypothesis would have the potential to suggest new therapies for the management of chronic cardiovascular inflammation.

ANTECEDENTES: La inflamación puede agruparse en tres fases: proinflamatoria, antiinflamatoria y de resolución. Esta última, principalmente atribuida a mediadores lipídicos, es la de más reciente descripción y se ha estudiado poco en las enfermedades isquémicas coronarias. OBJETIVOS: Evaluar 1) si los síndromes coronarios agudos (SICA) manifiestan niveles circulantes distintos de mediadores de resolución comparados con la angina estable (AE); 2) si sus concentraciones se relacionan con las de mediadores proinflamatorios y antiinflamatorios; y 3) si dichas concentraciones se asocian con la gravedad de la enfermedad y el daño producido. MÉTODO: Se midieron LTB4, RvD1, LXA4, ET-1, MMP-2, MMP-9, TIMP-1, IL-1ß, IL-6, IL-8 e IL-10 en suero. Se establecieron la puntuación GRACE como parámetro de gravedad y la fracción de eyección del ventrículo izquierdo (FEVI) como parámetro de daño. RESULTADOS: Se incluyeron 30 pacientes con AE, 37 con SICA sin elevación del segmento ST (SICA-SEST), 38 con Infarto agudo del miocardio con elevación del segmetno ST(IAM-CEST) y 10 con dolor torácico no cardiogénico. Los pacientes con enfermedad coronaria mostraron niveles elevados de citocinas inflamatorias y bajos de mediadores de resolución. CONCLUSIONES: La escasa respuesta de resolución aun en pacientes con enfermedad coronaria aguda sugiere una incapacidad para reparar daños. Probar esta hipótesis tendría el potencial de sugerir nuevas terapias para el manejo de la inflamación cardiovascular crónica.

Rare diseases mortality in Colombia, 2008-2013

Introduction: Rare diseases are characterized by their low prevalence, often of genetic origin, degenerative and life threatening. Objective: To describe mortality by orphan diseases and to analyze its trends in Colombia from 2008 to 2013. Materials and methods: We conducted a descriptive study to analyze mortality rate trends from the death certificates between 2008 and 2013. We calculated specific mortality rates and adjusted by age and sex. Results: Seven thousand one hundred and thirty five deaths were attributed to orphan diseases, and 51.4 % of them occurred among men of all ages. The mean mortality rate during the study period was 2.53 deaths per 100,000 people. Overall, the trend showed an increasing pattern of mortality although very heterogeneous across the country. Mortality rates were higher in Bogotá (20), and the Andes and the Caribbean regions (5.3 and 3.7 deaths per 100,000 population). The five most important causes of mortality among men were: acute lymphoblastic leukemia, muscular dystrophy, bronchopulmonary dysplasia originating in the perinatal period, multiple sclerosis, Guillain-Barré syndrome and gastroschisis, and among women: multiple sclerosis, acute lymphoblastic leukemia, gastroschisis, bronchopulmonary dysplasia originating in the perinatal period, Guillain-Barré syndrome and acute myeloid leukemia. The mean mortality rate by acute lymphoblastic leukemia was 0.17 deaths per 100,000 men younger than 15 years and that of multiple sclerosis was 0.16 in women over 40 years of age. Conclusion: The causes of death showed a similar pattern in both sexes. However, the burden of mortality was higher among men of all ages in Bogota.

Mortalidad por enfermedades huérfanas en Colombia, 2008-2013 / Rare diseases mortality in Colombia, 2008-2013

Resumen Introducción. Las enfermedades huérfanas caracterizadas por su baja prevalencia, comúnmente son de origen genético y degenerativo, y amenazan la vida. Objetivo. Describir la mortalidad por enfermedades huérfanas y analizar la tendencia en Colombia entre 2008 y 2013. Materiales y métodos. Se trata de un estudio descriptivo. Se analizó la tendencia de las tasas de mortalidad a partir de los certificados de defunción entre el 2008 y el 2013. Se calcularon las tasas específicas de mortalidad y las ajustadas por edad y sexo. Resultados. Se atribuyeron 7.135 defunciones a enfermedades huérfanas; 51,4 % ocurrieron en hombres de todas las edades. La tasa media de mortalidad fue de 2,53 muertes por 100.000 personas. La tendencia mostró un patrón de ascenso, aunque muy heterogéneo, en el territorio nacional. Las mayores tasas de mortalidad por 100.000 habitantes se registraron en Bogotá (20,0), la región Andina (5,3) y la Caribe (3,7). Las principales causas de muerte en hombres fueron: leucemia linfoblástica aguda, distrofia muscular, displasia broncopulmonar originada en el periodo perinatal, esclerosis múltiple, síndrome de Guillain-Barréy gastrosquisis, y en mujeres, esclerosis múltiple, leucemia linfoide aguda, gastrosquisis, displasia broncopulmonar originada en el periodo perinatal, síndrome de Guillain-Barré y leucemia mieloide aguda. La tasa media de mortalidad por leucemia linfoblástica aguda fue de 0,17 por 100.000 hombres menores de 15 años, y la de mortalidad por esclerosis múltiple fue de 0,16 en mujeres mayores de 40 años. Conclusiones. Las causas de muerte mostraron un comportamiento similar en ambos sexos; sin embargo, la mayor carga de mortalidad se registró en la población masculina de todas edades en Bogotá.

Abstract Introduction: Rare diseases are characterized by their low prevalence, often of genetic origin, degenerative and life threatening. Objective: To describe mortality by orphan diseases and to analyze its trends in Colombia from 2008 to 2013. Materials and methods: We conducted a descriptive study to analyze mortality rate trends from the death certificates between 2008 and 2013. We calculated specific mortality rates and adjusted by age and sex. Results: Seven thousand one hundred and thirty five deaths were attributed to orphan diseases, and 51.4 % of them occurred among men of all ages. The mean mortality rate during the study period was 2.53 deaths per 100,000 people. Overall, the trend showed an increasing pattern of mortality although very heterogeneous across the country. Mortality rates were higher in Bogotá (20), and the Andes and the Caribbean regions (5.3 and 3.7 deaths per 100,000 population). The five most important causes of mortality among men were: Acute lymphoblastic leukemia, muscular dystrophy, bronchopulmonary dysplasia originating in the perinatal period, multiple sclerosis, Guillain-Barré syndrome and gastroschisis, and among women: Multiple sclerosis, acute lymphoblastic leukemia, gastroschisis, bronchopulmonary dysplasia originating in the perinatal period, Guillain-Barré syndrome and acute myeloid leukemia. The mean mortality rate by acute lymphoblastic leukemia was 0.17 deaths per 100,000 men younger than 15 years and that of multiple sclerosis was 0.16 in women over 40 years of age. Conclusion: The causes of death showed a similar pattern in both sexes. However, the burden of mortality was higher among men of all ages in Bogota.

Dosimetry of the left anterior descending coronary artery in left breast cancer patients treated with postoperative external radiotherapy.

AIM: To evaluate the dose distribution to the left anterior descending (LAD) coronary artery in patients treated with postoperative three-dimensional conformal radiotherapy (3DCRT). BACKGROUND: Postoperative radiotherapy may increase the risk of heart disease, particularly in patients with left-sided breast cancer. Clinical data on doses to the LAD are limited. MATERIALS AND METHODS: Retrospective study of 14 patients who underwent postoperative 3DCRT for left breast cancer in 2014. All data were retrieved from medical records. Means, medians, ranges, and percentages were calculated. RESULTS: The mean dose to the LAD in patients with V25 < 1% was 0.12 cGy. Dmean, Dmax and V25 to the heart were, respectively, 3.7 Gy (range, 0.9-4.18), 40.3 Gy (9.28-62.9), and 1.59 cGy. The mean Dmean and Dmax values in the sample were 9.71 Gy and 33.2 Gy, respectively. The maximum dose to the LAD (D2%) ranged from 3.66 to 53.01 Gy. Due to the spacing of the CT slices (5 mm), it was not possible to completely contour the entire artery. The mean dose to the heart (3.3 Gy) was considered acceptable. CONCLUSIONS: The maximum dose to the LAD was as high as 53 Gy, suggesting an increased risk of cardiac morbidity. This study underscores the value of contouring the LAD and the value of the breath hold technique to reduce maximum cardiac doses. Smaller CT cuts (2.5 mm) can improve contouring. Larger studies with long-term follow up are needed to determine the radiation tolerance dose for the LAD.

[Factors associated to mortality by non-communicable diseases in Colombia, 2008-2012].

INTRODUCTION: Non-communicable diseases are the leading cause of premature mortality and disability in the world. OBJECTIVE: To describe the trend pattern and to explore which risk factors were associated with mortality rates in Colombia from 2008 to 2012. MATERIALS AND METHODS: A descriptive study was conducted to analyze mortality rate trends from the official vital statistics (death certificates) from 2008 to 2012. RESULTS: Between 2008 and 2012 there were 727,146 deaths due to non-communicable diseases, and 58.5% of them occurred among men aged less than 75 years. The mortality rate during the study period was 319.5 deaths per 100,000 people. The trend showed a statistically significant decline in mortality rates (-3%) across the country. For each woman who died due to external causes (i.e., not related to illness or old age), five men died under the same circumstances (OR=5,295; IC 95%: 5,143-5,454). The five most important causes of mortality were heart diseases, injuries due to aggressions, malignant tumors, chronic lower respiratory diseases and road traffic accidents. CONCLUSION: The cause of death differed significantly by sex and age. The main causes of death in Colombia were heart diseases and injuries (homicide). Mortality was higher among men of all ages than among women, but 15 to 45 year-old males were more likely to die due to external causes.

Factores asociados a la mortalidad por enfermedades no transmisibles en Colombia, 2008-2012 / Factors associated to mortality by non-communicable diseases in Colombia, 2008-2012

RESUMEN Introducción. Las enfermedades no transmisibles son la principal causa de muerte y discapacidad en el mundo. Objetivo. Describir la tendencia de la mortalidad por enfermedades no transmisibles y explorar la asociación con ciertos factores de riesgo en Colombia entre el 2008 y el 2012. Materiales y métodos. Se hizo un estudio descriptivo y se analizó la tendencia de las tasas de mortalidad a partir del registro oficial de estadísticas vitales (certificados de defunción) entre el 2008 y el 2012. Resultados. Durante el periodo de estudio, 727.146 defunciones se atribuyeron a enfermedades no transmisibles, y 58,5 % de ellas ocurrieron en hombres menores de 75 años. La tasa de mortalidad durante el periodo de estudio fue de 319,5 muertes por 100.000 habitantes. La tendencia mostró un patrón de descenso estadísticamente significativo, aunque muy leve (-3 %), en todo el territorio nacional. Por cada mujer fallecida por lesiones de causa externa (no relacionada con enfermedad o edad), cinco hombres fallecieron en las mismas circunstancias (razón de probabilidades, OR=5,295; IC95% 5,143-5,454). Las cinco primeras causas de muerte fueron: las enfermedades del sistema circulatorio, las agresiones, los tumores malignos, las enfermedades de las vías respiratorias inferiores y los accidentes de transporte. Conclusiones. Las causas de mortalidad difirieron significativamente según el sexo y la edad. Las principales causas de muerte en Colombia fueron las enfermedades del corazón y las agresiones (homicidios). La mortalidad por lesiones de causa externa fue mayor en los hombres de todas las edades que en las mujeres, y la mayor probabilidad de morir se concentró en el grupo de 15 a 45 años.

ABSTRACT Introduction: Non-communicable diseases are the leading cause of premature mortality and disability in the world. Objective: To describe the trend pattern and to explore which risk factors were associated with mortality rates in Colombia from 2008 to 2012. Materials and methods: A descriptive study was conducted to analyze mortality rate trends from the official vital statistics (death certificates) from 2008 to 2012. Results: Between 2008 and 2012 there were 727,146 deaths due to non-communicable diseases, and 58.5% of them occurred among men aged less than 75 years. The mortality rate during the study period was 319.5 deaths per 100,000 people. The trend showed a statistically significant decline in mortality rates (-3%) across the country. For each woman who died due to external causes (i.e., not related to illness or old age), five men died under the same circumstances (OR=5,295; IC 95%: 5,143-5,454). The five most important causes of mortality were heart diseases, injuries due to aggressions, malignant tumors, chronic lower respiratory diseases and road traffic accidents. Conclusion: The cause of death differed significantly by sex and age. The main causes of death in Colombia were heart diseases and injuries (homicide). Mortality was higher among men of all ages than among women, but 15 to 45 year-old males were more likely to die due to external causes.

Clinical, endoscopic and manometric features of the primary motor disorders of the esophagus.

BACKGROUND: Significant incidence, diagnostic difficulties, clinical relevance and therapeutic efficacy associated with the small number of publications on the primary esophageal motor disorders, motivated the present study. AIM: To determine the manometric prevalence of these disorders and correlate them to the endoscopic and clinical findings. METHODS: A retrospective study of 2614 patients, being 1529 (58.49%) women and 1085 (41.51%) men. From 299 manometric examinations diagnosed with primary esophageal motor disorder, were sought-clinical data (heartburn, regurgitation, dysphagia, odynophagia, non-cardiac chest pain, pharyngeal globe and extra-esophageal symptoms) and/or endoscopic (hiatal hernia, erosive esophagitis, food waste) that motivated the performance of manometry. RESULTS: Were found 49 cases of achalasia, 73 diffuse spasm, 89 nutcracker esophagus, 82 ineffective esophageal motility, and six lower esophageal sphincter hypertension. In relation to the correlations, it was observed that in 119 patients clinical conditions were associated with dysphagia, found in achalasia more than in other conditions; in relationship between endoscopic findings and clinical conditions there was no statistical significance between data. CONCLUSION: The clinical and endoscopic findings have little value in the characterization of the primary motor disorders of the esophagus, showing even more the need for manometry, particularly in the preoperative period of gastroesophageal reflux disease.

Clinical, endoscopic and manometric features of the primary motor disorders of the esophagus / Aspectos clínicos, manométricos e endoscópicos dos distúrbios motores primários do esôfago

BACKGROUND: Significant incidence, diagnostic difficulties, clinical relevance and therapeutic efficacy associated with the small number of publications on the primary esophageal motor disorders, motivated the present study. AIM: To determine the manometric prevalence of these disorders and correlate them to the endoscopic and clinical findings. METHODS: A retrospective study of 2614 patients, being 1529 (58.49%) women and 1085 (41.51%) men. From 299 manometric examinations diagnosed with primary esophageal motor disorder, were sought-clinical data (heartburn, regurgitation, dysphagia, odynophagia, non-cardiac chest pain, pharyngeal globe and extra-esophageal symptoms) and/or endoscopic (hiatal hernia, erosive esophagitis, food waste) that motivated the performance of manometry. RESULTS: Were found 49 cases of achalasia, 73 diffuse spasm, 89 nutcracker esophagus, 82 ineffective esophageal motility, and six lower esophageal sphincter hypertension. In relation to the correlations, it was observed that in 119 patients clinical conditions were associated with dysphagia, found in achalasia more than in other conditions; in relationship between endoscopic findings and clinical conditions there was no statistical significance between data. CONCLUSION: The clinical and endoscopic findings have little value in the characterization of the primary motor disorders of the esophagus, showing even more the need for manometry, particularly in the preoperative period of gastroesophageal reflux disease. .

RACIONAL: A incidência significante, a dificuldade diagnóstica, a relevância clínica e a eficácia terapêutica associada ao pequeno número de publicações sobre os distúrbios motores primários do esôfago, motivou a realização do presente estudo. OBJETIVO: Verificar a prevalência desses distúrbios em manometrias e relacioná-las aos achados endoscópicos e clínicos. MÉTODOS: Estudo retrospectivo de 2614 pacientes sendo 1529 (58,49%) do gênero feminino e 1085 (41,51%) do masculino. A partir de 299 exames manométricos com diagnóstico de distúrbio motor esofagiano primário, procuraram-se os dados clínicos (pirose, regurgitação, disfagia, odinofagia, dor torácica não cardíaca, globo faríngeo e sintomas extra-esofageanos) e/ou endoscópicos (hérnia de hiato, esofagite erosiva, resíduos alimentares) que motivaram a realização da manometria. RESULTADOS: Foram encontrados 49 casos de acalásia, 73 de espasmo difuso, 89 de esôfago em quebra-nozes, 82 de motilidade esofagiana ineficaz, e seis de esfíncter esofagiano inferior hipertensivo. Em relação às correlações, observou-se em 119 pacientes analisados que, na clínica associada às afecções, a disfagia foi mais encontrada na acalásia do que nas outras afecções; na relação entre os achados endoscópicos e as afecções não houve relevância estatística entre os dados. CONCLUSÃO: Os achados clínicos e endoscópicos têm pequeno valor na caracterização das doenças motoras primárias do esôfago, evidenciando ainda mais a necessidade da manometria, particularmente no pré-operatório da doença do refluxo gastroesofágico. .

Carcinoma adrenal de rápida evolución / Rapidly evolving adrenal carcinoma

Introducción: el carcinoma suprarrenal primario es un tumor poco frecuente, altamente agresivo, de crecimiento rápido, con mayor incidencia entre los 40 y 60 años de edad. Los carcinomas funcionantes representan hasta un 79 por ciento de los tumores corticales, más frecuentes en el sexo femenino, y de estos el 50 por ciento se manifiestan clínicamente como un síndrome de Cushing. La extensión del tumor a estructuras vecinas es común y empeora el pronóstico. La supervivencia media es de 2 años desde el diagnóstico, en particular, cuando existen metástasis en hígado y pulmón. Objetivo: describir las características clínicas, los procederes diagnósticos y terapéuticos de una paciente con carcinoma adrenal de rápida evolución. Presentación del caso: paciente LRS, femenina, blanca, de 49 años de edad, con antecedentes de hipertensión arterial y diabetes mellitus tipo 2, que asiste a consulta por descontrol metabólico y de la hipertensión arterial. Al examen físico, se constatan signos sugestivos de hipercortisolismo, sintomatología que a los 2 meses se acentuó notablemente. Se realizaron estudios basales, dinámicos, imagenológicos y anatomopatológicos, que corroboraron el diagnóstico presuntivo. Se realiza adrenalectomía izquierda con adenectomía regional, y se confirma por anatomía patológica el diagnóstico de carcinoma suprarrenal izquierdo. A los pocos meses de la intervención la paciente fallece con metástasis óseas en columna vertebral. Conclusiones: el reconocimiento temprano de los síntomas y signos de hiperfunción adrenal es muy importante para el diagnóstico y tratamiento oportuno del carcinoma adrenal(AU)

Introduction: primary suprarrenal carcinoma is a highly aggressive rare carcinoma of rapid growth, with greater incidence in 40-60 years age group. The functioning carcinomas represent up to 79 percent of cortical tumors that are more frequent in females, and 50 percent of them clinically manifests as Cushing syndrome. The extension of the tumor to neighboring structures is common and worsens the prognosis. Mean survival rate is 2 years from the time of diagnosis, particularly when there are liver and lung metastases. Objective: to describe the clinical characteristics, the diagnostic and therapeutic procedures in a female patient with rapidly evolving adrenal carcinoma. Case presentation: a patient LRS, female, Caucasian, 49 years-old, with a history of blood hypertension and type 2 diabetes mellitus, who went to the hospital because of lack of metabolic control and blood hypertension. On physical examination, there were observed some signs suggestive of hypercortisolism, symptomatology that became notably acute two months later. Basal, dynamic, imaging and anatomopathological studies were made to corroborate the presumptive diagnosis. Left adrenalectomy with regional adenectomy was performed, and the diagnosis of left suprarenal carcinoma was confirmed through pathological anatomy. Few months later, the patient died from osseous metastasis in her spinal cord. Conclusions: early recognition of symptoms and signs of adrenal hyperfunction is very important for diagnosis and timely treatment of adrenal carcinoma(AU)

Biobancos. Una estrategia exigente y esencial para la conservación de muestras biológicas / Biobanks. A strict and essentisl strategy conservation of biological samples

La recolección y conservación de muestras biológicas con fines investigativos es una actividad ligada desde tiempo atrás con la historia y evolución de la ciencia y la medicina; hoy en día, la disponibilidad de bancos de conservación de muestras adecuadamente validadas, está asociada con el desarrollo presente y futuro de la investigación científica. En general se entiende que un banco de conservación de muestras es un espacio físico que permite mantener en condiciones ideales una serie de muestras biológicas de manera organizada, observando los más altos estándares de calidad, apegados a la normatividad ética y legal establecida para estos casos y cuyo fin es la investigación biomédica tendiente a generar nuevo conocimiento, así como a diversas aplicaciones diagnósticas y terapéuticas. Los bancos de conservación de muestras constan, más allá de su infraestructura física, de una base de datos que permite conocer en tiempo real y al detalle el estado y condición de cada muestra, además de protocolos y normas claras y perfectamente establecidas para la utilización de las muestras para los proyectos de investigación que las requieran. La mayoría de los bancos de conservación de muestras nacieron de la necesidad de almacenar muestras biológicas remanentes de alguna investigación biomédica o poblacional, de diferentes campañas de salud, o de muestras recolectadas con propósitos forenses y de criminalística. Posteriormente, con el mejoramiento de las técnicas de conservación de muestras y con el advenimiento de las microtécnicas de análisis molecular, quedó patente la necesidad de institucionalizarlos hasta convertirlos en lo que son hoy, el punto de partida para cualquier proceso investigativo y de generación de nuevo conocimiento, una herramienta científica de primer orden con un potencial de desarrollo virtualmente ilimitado. Este escrito pretende recrear algunos de los aspectos más importantes del desarrollo de los biobancos, así como resaltar su importancia para la consolidación de una cultura investigativa de calidad, seria y sostenida en el tiempo, que redunde en el desarrollo de la comunidad científica en particular y de la sociedad en general. (Acta Med Colomb 2012; 37: 158-162).

The collection and storage of biological samples for research purposes is an activity linked for some time with the history and development of science and medicine. Nowadays, the availability of properly validated sample preservation banks is associated with the current and future development of scientific research. It is generally understood that a sample conservation bank is a physical space that allows to keep in ideal conditions a number of biological samples in an organized manner, observing the highest standards of quality, according to the ethical and legal norms established for these cases and whose aim is biomedical research, tending to generate new knowledge, as well as diverse diagnostic and therapeutic applications. Beyond their physical infrastructure, biobanks consist of a database that allows to know in real time and in detail the status and condition of each sample, as well as protocols and clear and well established guidelines for the use of samples required for research projects. Most sample conservation banks were born of the need to store remaining biological samples of some biomedical or population research, of different health campaigns, or of samples collected for forensic purposes and criminalistics. Later, with the improvement of sample preservation techniques and the advent of molecular analysis microtechnics, the need to institutionalize them and make them what they are today became evident: the starting point for any research process and of new knowledge generation, a scientific tool of the first order with a virtually unlimited growth potential. This paper aims to recreate some of the most important aspects of the development of biobanks as well as to highlight its importance for the consolidation of a serious and sustained over time research culture of quality, that benefits the development of the scientific community in particular, and of society in general. (Acta Med Colomb 2012; 37: 158-162).