Cardiac paraganglioma: implications and impacts of a rare disease-a case report †.

Background: Tumour-producing catecholamines arise in the adrenal medulla (pheochromocytomas), as well as in extra-adrenal chromaffin cells (paragangliomas). The origin can be from any location; however, it is very rare in the heart. Case summary: A 43-year-old woman with a history of arterial hypertension presented with dyspnoea on moderate exertion, New York Class Association (NYHA) functional classes III and IV, and oedema in the lower extremities. Medical and laboratory evaluation revealed an NT-proBNP of 6046 pg/mL, a left ventricular ejection fraction (LVEF) of 15%, longitudinal strain of -7%, and a mass located on the inner surface of the left atrioventricular groove. Surgical intervention was performed, and the tumour was resected. Pathological report showed an extra-adrenal paraganglioma without neoplastic involvement in the margins of the vena cava. After surgery, the patient showed clinical improvement with NYHA functional class I, LVEF of 56%, and longitudinal strain of -20% on transthoracic echocardiography 4 months after treatment. Discussion: Paragangliomas are tumours that are rarely found in the heart, and their diagnosis is difficult. However, early detection and treatment can improve the quality of life of affected patients.

Recomendaciones de tratamiento y seguimiento en pacientes con amiloidosis hereditaria mediada por transtirretina / Recommendations for treatment and follow-up in patients with transthyretin-mediated hereditary amyloidosis

Resumen Introducción: La amiloidosis hereditaria mediada por transtirretina es una enfermedad autosómica dominante, con compromiso sistémico y progresivo, que altera la función de múltiples órganos, y se asocia con una alta morbilidad y mortalidad. Se presenta compromiso neurológico, cardiaco, autonómico, oftalmológico y nefrológico, entre otros, que se relacionan con el genotipo del paciente. Estas alteraciones afectan la calidad de vida y tienen una relación directa con la mortalidad temprana en estos pacientes. La neuropatía periférica es un marcador temprano de la enfermedad. Su identificación permite un tratamiento temprano con terapias modificadoras de la enfermedad, en busca de la estabilización de la progresión de la enfermedad, lo cual, acompañado de un seguimiento adecuado, tiene un impacto positivo en la calidad de vida de los pacientes y una prolongación de la expectativa de vida. Objetivo: Estructurar una serie de recomendaciones adecuadas al entorno local sobre el tratamiento y seguimiento en pacientes con amiloidosis hereditaria mediada por transtirretina. Materiales y método: Se utilizó la metodología Delphi y se estableció como punto de corte un 75% de favorabilidad. Resultados y conclusiones: Se plantearon una serie de recomendaciones basadas en la evidencia disponible y las recomendaciones internacionales, aplicables al entorno local, sobre métodos diagnósticos que faciliten la detección temprana del paciente afectado y los parámetros de inicio del tratamiento y el seguimiento que mejoren la calidad de vida, disminuyan las complicaciones y aumenten la expectativa de vida de estos pacientes.

Abstract Introducción: Transthyretin-mediated hereditary amyloidosis is an autosomal dominant disease with progressive systemic involvement that affects the function of multiple organs and is associated with high morbidity and mortality. Patients present neurological, cardiac, autonomic, ophthalmological and renal involvement, among others, related to the patient's genotype. These alterations affect quality of life and are directly related to early mortality. Peripheral neuropathy is an early marker of the disease. Its identification allows early treatment with disease-modifying therapies aimed at stabilizing disease progression, which, along with adequate follow-up, has a positive impact on patients' quality of life and prolongs life expectancy. Objective: To structure a series of recommendations appropriate to the local setting on treatment and follow-up in patients with hereditary transthyretin-mediated amyloidosis. Materials and methods: Delphi methodology was used, and a cut-off point of 75% favorability was established. Results and conclusions: A series of recommendations were presented based on the available evidence and international recommendations, applicable to the local setting, on diagnostic methods that facilitate early detection of the affected patient and the parameters for initiation of treatment and follow-up that improve the quality of life, decrease complications, and increase the life expectancy of these patients.

Registro colombiano de trasplante cardíaco: año 1985-2021 / Colombian Heart Transplant Registry: 1985-2021

Resumen Introducción: El trasplante cardíaco tiene como objetivo principal mejorar la calidad de vida y la sobrevida de los pacientes con falla cardiaca avanzada. Pocos países en Latinoamérica tienen un sistema nacional de registro de trasplante de órganos sólidos, incluido corazón. En el caso de Colombia, cada institución maneja sus propias estadísticas. Objetivo: Describir la evolución de los trasplantes cardíacos realizados en Colombia desde sus inicios, como parte de la estrategia de implementación de un registro nacional de trasplante cardíaco. Materiales y método: Estudio descriptivo acerca de los trasplantes cardíacos realizados en las instituciones de Colombia que han hecho trasplante cardíaco en cualquier momento, desde el 01 de enero del 1985 hasta el 31 de diciembre del 2021. La información fue recolectada en un formato electrónico a través del capítulo de Falla Cardiaca, Trasplante Cardíaco e Hipertensión Pulmonar de la Asociación Sociedad Colombiana de Cardiología y Cirugía Cardiovascular. Resultados: se identificaron 10 instituciones que han realizado al menos un procedimiento de trasplante cardíaco en un período de 36 años (1985 a 2021), para un total de 1.451 trasplantes cardíacos. De estos procedimientos, 1.327 (91%) se realizaron en población adulta, 124 (9%) en población pediátrica y 80% en población masculina. Por otro lado, se han hecho 26 trasplantes cardíacos combinados (23 corazón/riñón y 3 corazón/pulmón) y 16 retrasplantes cardíacos. Conclusión: El número de trasplantes cardíacos que se realizan en Colombia es cada vez mayor. A pesar de las dificultades económicas, geográficas, logísticas, de disponibilidad de donantes, entre muchas otras, las instituciones trasplantadoras de Colombia, junto con el Instituto Nacional de Salud, continúan trabajando para lograr una mejor y mayor cobertura en salud de la población con falla cardíaca avanzada que requiere trasplante cardíaco y de los pacientes que son llevados a trasplante cardíaco. Este artículo pretende ser el inicio de un registro nacional de trasplante cardíaco.

Abstract Introduction: the main goal of heart transplantation is to improve the quality of life and survival of patients with advanced heart failure. Few Latin American countries have a national registry of solid organ transplants, including heart transplants. In Colombia, each institution handles its own statistics. Objective: To describe the development of heart transplantation in Colombia from its beginning, as part of the strategy for implementing a national heart transplant registry. Materials and method: a descriptive study of the heart transplants performed in all Colombian institutions that performed heart transplants at any time between January 1, 1985, and December 31, 2021. The information was gathered in an electronic format through the Heart Failure, Heart Transplant and Pulmonary Hypertension Chapter of the Asociación Sociedad Colombiana de Cardiología y Cirugía Cardiovascular [Colombian Society of Cardiology and Cardiovascular Surgery Association]. Results: ten institutions were found in which at least one heart transplant had been performed over a 36-year period (1985 to 2021), for a total of 1,451 heart transplants. Of these procedures, 1,327 (91%) were in adults, 124 (9%) in children, and 80% in males. Furthermore, 26 combined heart transplants have been performed (23 heart/kidney and three heart/lung) as well as 16 heart retransplants. Conclusion: the number of heart transplants performed in Colombia is growing. Despite economical, geographical, logistical and donor availability difficulties, among many others, the Colombian transplant institutions, together with the Instituto Nacional de Salud [National Institute of Health], continue to work toward a better and fuller healthcare coverage for those with advanced heart failure requiring heart transplantation and for patients undergoing heart transplantation. This article seeks to initiate a national heart transplant registry.

Factores asociados a la mortalidad en el primer año postrasplante cardíaco / Factors associated with mortality in the first year post-cardiac transplantation

Resumen Introducción: en el trasplante cardiaco la sobrevida es del 81 al 85% en el primer año; las infecciones y la falla del injerto son las principales causas de mortalidad. Objetivo: determinar los factores de riesgo asociados a mortalidad al año postrasplante cardiaco en un hospital de alta complejidad del suroccidente colombiano. Métodos: cohorte retrospectiva de pacientes con trasplante de corazón llevado a cabo entre 1996 a 2015. Se obtuvo la información de las características del donante, receptor y procedimiento quirúrgico. Se realizó una regresión de Cox; el evento de interés fue la mortalidad al primer año de seguimiento. En el análisis multivariable se incluyeron variables con p ≤ 0,20 y significancia clínica. Resultados: se incluyeron 158 pacientes, con mediana de edad de 50 años (RIC: 39-57), 76% hombres. La principal etiología de falla cardiaca fue idiopática (45%). La mediana de tiempo de isquemia fue 187 minutos (RIC: 142-300). La mortalidad fue 24%, y se atribuyó principalmente a infecciones (29%). Fueron factores asociados a mortalidad la cardiopatía congénita como etiología de falla cardíaca (p 0,048), antecedente de diabetes mellitus (p 0,001), cirugía cardiaca previa (p 0,023) tiempo de isquemia mayor a 150 minutos (p 0,038) y relación receptor hombre/donante mujer (p 0,022). Conclusiones: los factores asociados a mayor mortalidad en el primer año postrasplante cardiaco fueron: etiología de la falla cardíaca por cardiopatía congénita, antecedente de diabetes mellitus, cirugía cardiaca previa, relación receptor hombre con donante mujer, tiempo de isquemia mayor a 150 minutos.

Abstract Introduction: The survival rate in the first year after heart transplant is between 81% and 85%. The main causes of mortality are infections and failure of the graft. Objective: To determine the risk factors associated with mortality at one year post- cardiac transplant in a high complexity hospital in south-west Colombia. Methods: A retrospective cohort study was performed on patients with a heart transplant carried out between 1996 and 2015. Information was obtained on the characteristics of the donor, recipient, and surgical procedure. A Cox regression was performed, with the event of interest being mortality in the first year of follow-up. In the multivariate analysis, variables were included that had a P≤ .20 and clinical significance. Results: The study included a total of 158 patients, with a median age of 50 years (IQR: 39-57), of whom 76% were males. The most common origin was idiopathic heart failure (45%). The median time of ischaemia was 187 minutes (IQR: 142-300). The mortality was 24% and was mainly due to infections (29%). There were factors associated with the congenital heart failure mortality such as origin of heart failure (P = .048), history of diabetes mellitus (P = .001), previous cardiac surgery (P = .023), ischaemia time greater than 150 minutes (P = .038), and the male recipient / female donor ratio (P = .022). Conclusions: The factors associated with higher mortality in the first year post-cardiac transplant were: origin of heart failure due to congenital heart disease, history of diabetes mellitus, previous cardiac surgery, the male recipient / female donor ratio, and an ischaemia time greater than 150 minutes.

A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis.

Hypertriglyceridemia is a common disease with only 2% of cases exhibiting monogenic mutations. Familial chylomicronemia syndrome (FCS) is a rare genetic condition associated with recurrent and severe episodes of pancreatitis and is mainly caused by mutations in the LPL gene, with few cases related to abnormal function of apolipoprotein C-II. This is a 50-year-old female with a past medical history of arterial hypertension, miscarriage and recurrent pancreatitis. In the last four years, her triglycerides and lipase concentration reached >3000 mg/dL and >700 U/L, respectively. The patient was not responsive to statins, fibrates, or tetrahydrolipstatin. A novel homozygous frameshift mutation on exon 3 of the APOC2 gene was detected, c.133_134delTC. Subsequent Sanger sequencing confirmed that three first-degree relatives were carriers of the same mutation. To the best of our knowledge, we are reporting the first Colombian patient with FCS due to an APOC2 mutation. We propose that this mutation caused recurrent hypertriglyceridemic pancreatitis.

Role of litter turnover in soil quality in tropical degraded lands of Colombia.

Land degradation is the result of soil mismanagement that reduces soil productivity and environmental services. An alternative to improve degraded soils through reactivation of biogeochemical nutrient cycles (via litter production and decomposition) is the establishment of active restoration models using new forestry plantations, agroforestry, and silvopastoral systems. On the other hand, passive models of restoration consist of promoting natural successional processes with native plants. The objective in this review is to discuss the role of litter production and decomposition as a key strategy to reactivate biogeochemical nutrient cycles and thus improve soil quality in degraded land of the tropics. For this purpose the results of different projects of land restoration in Colombia are presented based on the dynamics of litter production, nutrient content, and decomposition. The results indicate that in only 6-13 years it is possible to detect soil properties improvements due to litter fall and decomposition. Despite that, low soil nutrient availability, particularly of N and P, seems to be major constraint to reclamation of these fragile ecosystems.

Estructura y composición florística de tres robledales en la región norte de la cordillera central de Colombia

Structure and floristic composition of three oak forests in the northern region of the Central Cordillera in Colombia. Andean ecosystems harbor a high floristic diversity, which is being threatened by human disturbances such us deforestation and by the expansion of the agricultural frontier. One of these ecosystems are the Andean oak forests dominated by Quercus humboldtii, a threatened species in Colombia. We assessed the floristic composition and structure of three Andean oak forests located in three localities (San Andrés de Cuerquia, Belmira and Guarne) of Antioquia. The main goal was to determine whether these forests showed similarities in their structure and floristic composition. In each site, a permanent plot of 5000 m2 (0.5 ha) was established. All trees with D ≥ 10 cm were sampled and identified to species. The Importance Value Index (IVI) was calculated as the sum of relative density (DeR), dominance (DoR) and frequency (FR) of a species. Trees with 5 ≤ D < 10 cm and 2 ≤ D < 5 cm were registered in sub-plots of 0.05 and 0.0144 ha, respectively. Finally, we used Jaccard’s Index to quantify the floristic similarity among oak forest. When we considered all trees with D ≥ 10 cm in the three forests, the number of species ranged from 18 to 54, whilst the number of individuals ranged from 326 to 680. The Guarne oak forest showed the highest species richness. In all sites, Q. humboldtii (Fagaceae) was the most important species in relation to the IVI, while Clusia sp. (Clusiaceae) and Myrsine coriaceae (Myrsinaceae) were the most important species in San Andrés de Cuerquia, Clethra fagifolia (Clethraceae) was important only in Belmira and Myrcia popayanensis (Myrtaceae) was important in Guarne. The families with the highest number of species were Fabaceae, Melastomataceae and Rubiaceae. Floristic similarity among places was low. The size distribution of trees had an inverse J- shape curve for all sites with changes in the abundance for size class. The three oak forests differed in their structure and floristic composition probably because of different disturbance degrees. Rev. Biol. Trop. 57 (4): 1165-1182. Epub 2009 December 01.

La alta diversidad florística que albergan los ecosistemas andinos está siendo amenazada por fuertes presiones de origen antrópico. Uno de estos ecosistemas son los robledales, bosques dominados por la especie Quercus humboldtii, que se encuentra seriamente amenazada en Colombia porque su madera es valiosa comercial y dendroenergéticamente. En este estudio, se caracterizó la composición florística y la estructura de tres robledales de los Andes colombianos, con el fin de determinar su similaridad. En cada sitio, se estableció una parcela permanente (5 000 m²) donde se muestrearon todos los árboles con D ≥ 10 cm. En los tres sitios, la especie dominante fue Q. humboldtii, pero la similitud florística entre ellos no fue alta. La estructura por clases de tamaño para los tres sitios fue en forma de J invertida, aunque varió la abundancia de individuos por clase diamétrica. Los resultados indican que los robledales estudiados difieren en su composición florística y estructura a pesar de presentar características biofísicas similares. Las diferencias encontradas se deben posiblemente, a los diferentes factores que interactúan en cada sitio como la historia de uso, intensidad y duración de las perturbaciones antrópicas pasadas, topografía, fauna y clima local, que se ven reflejados en los parámetros estructurales de la vegetación.

[Structure and floristic composition of three oak forests in the northern region of the Central Cordillera in Colombia]. / Estructura y composición floristica de tres robledales en la región norte de la cordillera central de Colombia.

Andean ecosystems harbor a high floristic diversity, which is being threatened by human disturbances such us deforestation and by the expansion of the agricultural frontier. One of these ecosystems are the Andean oak forests dominated by Quercus humboldtii, a threatened species in Colombia. We assessed the floristic composition and structure of three Andean oak forests located in three localities (San Andrés de Cuerquia, Belmira and Guarne) of Antioquia. The main goal was to determine whether these forests showed similarities in their structure and floristic composition. In each site, a permanent plot of 5000 m2 (0.5 ha) was established. All trees with D > or = 10 cm were sampled and identified to species. The Importance Value Index (IVI) was calculated as the sum of relative density (DeR), dominance (DoR) and frequency (FR) of a species. Trees with 5 < or = D < 10 cm and 2 < or = D < 5 cm were registered in sub-plots of 0.05 and 0.0144 ha, respectively. Finally, we used Jaccard's Index to quantify the floristic similarity among oak forest. When we considered all trees with D > or = 10 cm in the three forests, the number of species ranged from 18 to 54, whilst the number of individuals ranged from 326 to 680. The Guarne oak forest showed the highest species richness. In all sites, Q. humboldtii (Fagaceae) was the most important species in relation to the IVI, while Clusia sp. (Clusiaceae) and Myrsine coriaceae (Myrsinaceae) were the most important species in San Andrés de Cuerquia, Clethra fagifolia (Clethraceae) was important only in Belmira and Myrcia popayanensis (Myrtaceae) was important in Guarne. The families with the highest number of species were Fabaceae, Melastomataceae and Rubiaceae. Floristic similarity among places was low. The size distribution of trees had an inverse J-shape curve for all sites with changes in the abundance for size class. The three oak forests differed in their structure and floristic composition probably because of different disturbance degrees.