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Resumen La neoplasia endocrina múltiple tipo 2B (MEN 2B) es un síndrome genético poco común, con una prevalencia estimada de 0,9 a 1,6 por millón de individuos y una incidencia de 1,4 a 2,6 por millón de nacidos vivos por año. Es causada por una mutación en el protooncogén RET y se caracteriza por la presencia de carcinoma medular de tiroides (CMT) en el 100 % de los casos, feocromocitoma hasta en el 50 % y características extraendocrinas como un fenotipo marfanoide, alteraciones musculoesqueléticas y dentales, neuromas mucosos, alacrimia y ganglioneuromatosis intestinal difusa con síntomas de dismotilidad esofágica y gastrointestinal. Este síndrome se asocia con una calidad de vida deteriorada y una supervivencia deficiente, debidas principalmente a la agresividad del CMT, enfermedad que usualmente es de aparición temprana o metastásica. El diagnóstico generalmente se realiza de forma tardía, lo cual retrasa el enfoque integral, que incluye tipificación genética, tratamiento quirúrgico temprano del CMT y terapias específicas como inhibidores de tirosina quinasa (ITK) en caso de CMT avanzado. La cirugía es el tratamiento principal y la única posibilidad de cura, aunque el advenimiento de las terapias dirigidas parece estar mejorando la supervivencia libre de progresión en los casos avanzados.

Abstract Multiple endocrine neoplasia type 2B (MEN 2B) is a rare genetic syndrome with an estimated prevalence of 0.9 to 1.6 per million individuals and an annual incidence of 1.4 to 2.6 per million live births. It is caused by a mutation in the RET proto-oncogene and is characterized by the presence of medullary thyroid carcinoma (MTC) in 100% of cases, pheochromocytoma in up to 50%, and extraendocrine features such as a marfanoid phenotype, musculoskeletal and dental abnormalities, mucosal neuromas, alacrimia, and diffuse intestinal ganglioneuromatosis with symptoms of esophageal and gastrointestinal dysmotility. This syndrome is associated with a diminished quality of life and poor survival, primarily due to the aggressiveness of MTC, which often presents at an early or metastatic stage. Diagnosis is often delayed, resulting in a delayed comprehensive approach that includes genetic profiling, early surgical management of MTC, and specific therapies such as tyrosine kinase inhibitors (TKIs) for advanced MTC. Surgery remains the mainstay and the only potential cure, although the advent of targeted therapies appears to improve progression-free survival in advanced cases

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Vitamin B12 (B12) is necessary for the proper functioning of the central and peripheral nervous systems. Although there is no exact definition for B12 levels, a value of 200 pg/mL is compatible with deficiency, 200-299 pg/mL is considered borderline, and 300 pg/mL is considered normal. In population studies, the prevalence of B12 deficiency ranges between 2.9% and 35%. Furthermore, many medications, such as metformin [for type 2 diabetes mellitus (T2DM)], can cause B12 deficiency. The objectives of this study were to determine the population status of B12 in southwestern Colombia (and the status of B12 in subjects with T2DM). In the total population (participants with and without T2DM), the prevalence of B12 deficiency was 17.8%; that of borderline was 19.3%; and that of normal levels was 62.9%. The prevalence of deficiency increased with age and was significantly higher in those aged ≥60 years (p = 0.000). In T2DM subjects, the prevalence of deficiency was significantly higher concerning those without T2DM (p = 0.002) and was significantly higher in those who received >1 gm/day of metformin (p = 0.001). Thus, the prevalence of deficiency and borderline levels of B12 in our population was high, particularly in those >60 years of age. B12 deficiency was significantly higher in individuals with T2DM than in individuals without T2DM, especially among those receiving high doses of metformin.

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Resumen Los feocromocitomas y paragangliomas son neoplasias neuroendocrinas infrecuentes que pueden producir catecolaminas. Tienen una incidencia menor a un caso por millón de habitantes. Son histológicamente benignas y muestran mínimas diferencias respecto a sus contrapartes malignas. Asimismo, son dos de las neoplasias humanas con mayor carga genética. La mutación más común es en la vía del complejo de la succinato deshidrogenasa (SDH) y, de esta, una de las que menos se reportan son las variantes de la SDH subunidad A (SDHA). Se describe el caso de un paciente con feocromocitoma y paraganglioma asociados a una mutación en SDHA y se señala su comportamiento y buena respuesta clínica al manejo quirúrgico y vigilancia activa.

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BACKGROUND: The population prevalence of functional alterations and thyroid autoimmunity is high, and numerous genetic and environmental aspects have been described as triggering factors. OBJECTIVES: The objective of this study was to determine the prevalence of functional alterations and thyroid autoimmunity in an urban population of Colombia. MATERIALS AND METHODS: It is a cross-sectional, population-based study (n = 9,638) conducted on an urban population of Popayán-Cauca-Colombia between February 5th, 2018, to December 11th, 2021. The variables evaluated were thyrotropin (TSH), free T4 (FT4), and anti-thyroid antibodies (thyroid peroxidase antibodies: TPOAb, and thyroglobulin antibodies: TgAb). RESULTS: TSH in men was significantly higher than in women. No differences were observed in the values of FT4, TPOAb, and TgAb (according to sex). The prevalence of normal thyroid function and subclinical hypothyroidism was significantly higher in men. The positivity of TPOAb and TgAb was 22.3% and 19.2%, respectively. TSH levels increased with age (both in men and in women). In participants with normal FT4 and negative TPOAb, the TSH was significantly higher. TSH was significantly higher in TPOAb-positive individuals and among those with TPOAb and TgAb positives, as well as in women with positive TPOAb and men with positive TPOAb and TgAb. CONCLUSION: In an urban population of Colombia, TSH was found to be higher than in populations of other geographical areas, especially in older individuals and in the presence of positive anti-thyroid antibodies, a high prevalence of functional alterations and thyroid autoimmunity was also found. These findings can be explained by excess iodine consumption and some environmental factors.

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Las lesiones metastásicas representan hasta un 3 % de los tumores malignos de la glándula tiroides. La mayoría de los casos se originan de tumores de células renales y de pulmón. El abordaje diagnóstico implica una alta sospecha clínica en pacientes con primarios conocidos, sin embargo, puede ser la manifestación inicial de una enfermedad maligna extensa no diagnosticada hasta en un 20 % a 40 % de los pacientes. La biopsia por aguja fina ha demostrado buen rendimiento para el diagnóstico de los nódulos metastásicos. El pronóstico y la opción del tratamiento quirúrgico dependen del control local del primario y del estado de la enfermedad sistémica asociada, por lo tanto, debe ser individualizado. Por lo general, hasta un 80 % de los pacientes con compromiso de la tiroides tienen enfermedad metastásica multiorgánica, y la intención del tratamiento quirúrgico es con fines paliativos para prevenir las complicaciones derivadas de la extensión local de la enfermedad a las estructuras del tracto aerodigestivo superior en el cuello. Se presenta a continuación, una serie de seis casos de pacientes con lesiones metastásicas a glándula tiroides con primarios en riñón, mama y de melanomas

Metastatic lesions represent up to 3% of malignant tumors of the thyroid gland. Most cases originate from lung and renal cell tumors. The diagnostic approach implies a high clinical suspicion in patients with known primaries, however, it can be the initial manifestation of an extensive undiagnosed malignant disease in up to 20% to 40% of patients. Fine-needle biopsy has shown good performance for the diagnosis of metastatic nodules. The prognosis and the option of surgical treatment depend on the local control of the primary condition and the state of the associated systemic disease, therefore it must be individualized. In general, up to 80% of patients with thyroid involvement have multi-organ metastatic disease and surgical treatment is intended to be palliative to prevent complications resulting from local extension of the disease to structures of the upper aerodigestive tract in the neck. A case series of six patients with metastatic lesions to the thyroid gland with primaries in the kidney, breast and melanomas is presented below

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Abstract Eccrine cell carcinoma constitutes a group of rare skin malignancies which are slow-growing but highly invasive. A case of multiple skin lesions with multifocal involvement, concluding with the histopathological documentation of this condition, is presented. (Acta Med Colomb 2019; 44. DOI:https://doi.org/10.36104/amc.2019.1203).

Resumen El carcinoma de células ecrinas constituye un grupo de neoplasias raras de la piel, de crecimiento lento pero altamente invasor. Se presenta un caso de lesiones cutáneas múltiples con compromiso multifocal que concluye con la documentación histopatológica de esta condición. (Acta Med Colomb 2019; 44. DOI:https://doi.org/10.36104/amc.2019.1203).

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RESUMEN Objetivo: el mielolipoma es un tumor suprarrenal poco frecuente, benigno y no funcional. Representa el 2,6-3 % de los casos reportados de masas adrenales incidentales. Es más frecuente en adultos entre la quinta y séptima década de la vida. El objetivo del estudio es evaluar la prevalencia de mielolipoma como masa adrenal incidental en tomografías abdominales en 1 año, en un hospital universitario de cuarto nivel. Metodología: estudio retrospectivo. Se revisaron todas las tomografías de abdomen simples o contrastadas realizadas en el periodo 2014 al 2015 en el Hospital Universitario San Vicente Fundación de Medellín. De estas, se extrajeron las que reportaban masas adrenales incidentales con diagnóstico de mielolipoma. Se revisaron las historias clínicas de los pacientes con este hallazgo y sus características clínicas respectivas. Resultados: se revisaron 4.288 estudios tomográficos de abdomen correspondientes a 3.709 pacientes. Se encontraron 108 masas adrenales incidentales y los mielolipomas fueron el 1,85 % de estos. En los pacientes evaluados con TAC abdominal por diferentes razones, la posibilidad de identificar mielolipomas fue de 0,05 %. El promedio de edad de presentación fue 57 años. Ambos casos de mielolipomas fueron masas unilaterales, derechas, con un tamaño promedio de 31 mm y con un promedio de -84,5 unidades Hounsfield (UH). En ningún caso se realizó estudio hormonal o de manejo quirúrgico. Discusión: en este estudio se presenta la prevalencia y características clínicas del mielolipoma adrenal con presentación inicial como masas adrenales incidentales. Se encontró que el 1,85 % de las masas adrenales incidentales tienen como etiología el mielolipoma. En nuestro conocimiento no hay estudios en Colombia que evalúen la prevalencia de mielolipoma en TAC abdominales. En conclusión, el mielolipoma es un tumor adrenal infrecuente.

SUMMARY Objective: Adrenal myelolipoma is an infrequent benign tumor. Myelolipoma represents 2,6-3 % of all adrenal incidentalomas. This tumor is more frequent in aged individuals. Our aim was to evaluate the prevalence of myelolipoma in patients with adrenal incidentaloma detected by abdominal computed tomography (CT) during 1 year at a university tertiary care hospital. Methods: Retrospective study. All abdominal CT done at the Hospital Universitario San Vicente Fundación, Medellín, Colombia, with or without contrast, were reviewed from 2014 to 2015. Of all adrenal incidentalomas, those with diagnosis of adrenal mielolipoma were further evaluated. The clinical and laboratory data were extracted. Results: 4288 abdominal CT were reviewed in 3709 patients. 108 adrenal incidentalomas were found. Of those, two cases were adrenal myelolipomas. The frequency of mielolipoma presenting as adrenal incidentalomas was 1.85 % with a prevalence in abdominal CT of 0.05 %. The mean age at presentation was 57 years. Both cases were unilateral right masses; the mean size was 31 mm and a mean of -84.5 Hounsfield units. Hormonal studies or surgical management was no performed. Discussion: This study report the prevalence and clinical characteristics of adrenal myelolipoma presenting as adrenal incidentalomas. 1.85 % of adrenal incidentalomas are myelolipomas. To our knowledge, there are no studies in Colombia evaluating the prevalence of this disease in abdominal CT scans. In conclusion, myelolipoma is an infrequent adrenal tumor.

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