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Background: Surgical resection is not always achievable in thyroid cancer patients. Neoadjuvant therapy is rarely used, but recent trends favor multikinase inhibitors or selective tyrosine kinase inhibitors. These aim to reduce tumor volume, enabling previously unfeasible surgeries. Patients and Methods: Consecutive patients with locally advanced malignant thyroid tumors who received systemic therapies with a neoadjuvant intention were included in this retrospective multicenter case series conducted in five Latin American referral centers. Primary outcomes were pre- versus postneoadjuvant response evaluations using the Response Evaluation Criteria in Solid Tumors, feasibility of surgery, and completeness of resection. Secondary outcomes were mortality and status at the last visit. Results: Twenty-seven patients were included in this analysis. Patients with unresectable differentiated thyroid cancer (DTC) or poorly differentiated thyroid cancer (PDTC) received sorafenib (n = 6) or lenvatinib (n = 12), those with medullary thyroid cancer (MTC) were treated with vandetanib (n = 5) or selpercatinib (n = 1), and those with anaplastic thyroid cancer (ATC) harboring a BRAFV600E mutation (n = 3) received dabrafenib and trametinib. The median patient age was 66 years (range 12-82), and 52% of the patients were female. In patients with PTC and PDTC, the median reduction in the diameter of the primary tumor was 25% (range 0-100%) after a median of 6 months of treatment. Surgical intervention was performed in 10 (55%) of the patients. Among these, six patients (60%) achieved R0/R1 resection status. Six patients with MTC had a median reduction in tumor diameter of 24.5% (range 1-49) after a median treatment time of 9.5 months. Only one patient receiving selpercatinib, with a tumoral reduction of 25% could undergo surgery, resulting in an R2 resection due to extensive mediastinal extension. Three patients with ATC showed a median tumor diameter reduction of 42% (range 6.7-50) after a median treatment time of 2 months. Two patients underwent surgical intervention and achieved R1 and R2 resection, respectively. Conclusions: While neoadjuvant therapy achieved tumoral responses, surgical resection was feasible in 55% of DTC, 33% of ATC, and 16% of MTC patients, with R0/R1 resection in 26% of the cohort, underscoring the need for patient selection and further research in this area.
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Terapia Neoadyuvante , Neoplasias de la Tiroides , Humanos , Neoplasias de la Tiroides/terapia , Neoplasias de la Tiroides/patología , Neoplasias de la Tiroides/tratamiento farmacológico , Neoplasias de la Tiroides/cirugía , Femenino , Masculino , Persona de Mediana Edad , Anciano , Estudios Retrospectivos , Adulto , Anciano de 80 o más Años , Adulto Joven , Adolescente , Niño , Tiroidectomía , América Latina , Resultado del Tratamiento , Inhibidores de Proteínas Quinasas/uso terapéutico , Compuestos de Fenilurea/uso terapéutico , Carcinoma Neuroendocrino/tratamiento farmacológico , Carcinoma Neuroendocrino/patología , Carcinoma Neuroendocrino/terapia , QuinolinasRESUMEN
Hepatocrinology explores the intricate relationship between liver function and the endocrine system. Chronic liver diseases such as liver cirrhosis can cause endocrine disorders due to toxin accumulation and protein synthesis disruption. Despite its importance, assessing endocrine issues in cirrhotic patients is frequently neglected. This article provides a comprehensive review of the epidemiology, pathophysiology, diagnosis, and treatment of endocrine disturbances in liver cirrhosis. The review was conducted using the PubMed/Medline, EMBASE, and Scielo databases, encompassing 172 articles. Liver cirrhosis is associated with endocrine disturbances, including diabetes, hypoglycemia, sarcopenia, thyroid dysfunction, hypogonadotropic hypogonadism, bone disease, adrenal insufficiency, growth hormone dysfunction, and secondary hyperaldosteronism. The optimal tools for diagnosing diabetes and detecting hypoglycemia are the oral glucose tolerance test and continuous glucose monitoring system, respectively. Sarcopenia can be assessed through imaging and functional tests, while other endocrine disorders are evaluated using hormonal assays and imaging studies. Treatment options include metformin, glucagon-like peptide-1 analogs, sodium-glucose co-transporter-2 inhibitors, and insulin, which are effective and safe for diabetes control. Established standards are followed for managing hypoglycemia, and hormone replacement therapy is often necessary for other endocrine dysfunctions. Liver transplantation can address some of these problems.
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Diabetes Mellitus , Hipoglucemia , Sarcopenia , Humanos , Automonitorización de la Glucosa Sanguínea , Sarcopenia/diagnóstico , Sarcopenia/etiología , Sarcopenia/terapia , Glucemia/metabolismo , Cirrosis Hepática/complicaciones , Cirrosis Hepática/diagnóstico , Cirrosis Hepática/terapia , Sistema Endocrino/metabolismo , Diabetes Mellitus/epidemiología , Insulina/uso terapéutico , Hipoglucemia/complicacionesRESUMEN
INTRODUCTION: X-linked hypophosphatemia is an orphan disease of genetic origin and multisystem involvement. It is characterized by a mutation of the PHEX gene which results in excess FGF23 production, with abnormal renal and intestinal phosphorus metabolism, hypophosphatemia and osteomalacia secondary to chronic renal excretion of phosphate. Clinical manifestations include hypophosphatemic rickets leading to growth abnormalities and osteomalacia, myopathy, bone pain and dental abscesses. The transition of these patients to adult life continues to pose challenges to health systems, medical practitioners, patients and families. For this reason, the aim of this consensus is to provide a set of recommendations to facilitate this process and ensure adequate management and follow-up, as well as the quality of life for patients with X-linked hypophosphatemia as they transition to adult life. MATERIALS AND METHODS: Eight Latin American experts on the subject participated in the consensus and two of them were appointed as coordinators. The consensus work was done in accordance with the nominal group technique in 6 phases: (1) question standardization, (2) definition of the maximum number of choices, (3) production of individual solutions or answers, (4) individual question review, (5) analysis and synthesis of the information and (6) synchronic meetings for clarification and voting. An agreement was determined to exist with 80% votes in favor in three voting cycles. RESULTS AND DISCUSSION: Transition to adult life in patients with hypophosphatemia is a complex process that requires a comprehensive approach, taking into consideration medical interventions and associated care, but also the psychosocial components of adult life and the participation of multiple stakeholders to ensure a successful process. The consensus proposes a total of 33 recommendations based on the evidence and the knowledge and experience of the experts. The goal of the recommendations is to optimize the management of these patients during their transition to adulthood, bearing in mind the need for multidisciplinary management, as well as the most relevant medical and psychosocial factors in the region.
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Raquitismo Hipofosfatémico Familiar , Hipofosfatemia , Osteomalacia , Adulto , Humanos , Raquitismo Hipofosfatémico Familiar/genética , Osteomalacia/genética , Osteomalacia/metabolismo , Consenso , Calidad de Vida , Hipofosfatemia/genética , Hipofosfatemia/metabolismo , Factores de Crecimiento de Fibroblastos/genéticaRESUMEN
Introducción: parte esencial del manejo y control de la pandemia por SARS-CoV-2 ha sido la vacunación. Sin embargo, las sales de aluminio usadas en las vacunas para potenciar el sistema inmune, pueden asociarse con el síndrome autoinmune/autoinflamatorio inducido por adyuvantes (ASIA). Esta condición se ha relacionado con otros factores, como agentes infecciosos, implantes de silicona e inoculación de aceites minerales. Hay poca información acerca de enfermedades endocrinas autoinmunes y ASIA después de la vacunación para SARS-CoV-2. Objetivo: reportar los casos relacionados con enfermedad tiroidea posterior a la vacunación para COVID-19, en pacientes que asistieron a la consulta de endocrinología en la clínica Imbanaco, Cali, Colombia, en 2021. Métodos: descripción clínica, de laboratorio e imágenes de 8 pacientes que acudieron a la consulta de endocrinología. Resultados y discusión: 87.5% eran de sexo femenino de 46.8 ± 10 años, el tiempo entre la aplicación de la vacuna y la aparición de los síntomas fue 13.8 días y la vacuna más relacionada fue Pfizer/BioNTech seguida por Sinovac-CoronaVac y AstraZeneca/AZD1222. La presentación de tiroiditis subaguda estuvo presente en el (37.5%), enfermedad de Graves (37.5%), tiroiditis silente (12.5%) e hipotiroidismo (12.5%). Los síntomas más comunes fueron mialgias y palpitaciones. El hallazgo ecográfico más común fue tiroiditis subaguda. Conclusiones: en esta seria de casos, reportamos una relación entre la vacunación y la aparición de enfermedad tiroidea por SARS-CoV-2. dado que estos eventos son motivo de controversia, serán necesarios otros estudios que ayuden a establecer si existe o no causalidad
Introduction: Vaccines have been an essential part of the SARS-CoV-2 pandemic management and control. However, aluminum salts in vaccines, used to enhance the immune response, may be associated with autoimmune/inflammatory syndrome induced by adjuvants (ASIA). This syndrome has been linked to other factors, such as infectious agents, silicone implants, and mineral oil inoculation. Data on autoimmune endocrine disorders and ASIA following SARS-CoV-2 vaccination is scant. Objective: to report cases of thyroid disorders following COVID-19 vaccination, in patients who attended the endocrinology clinic at Clínica Imbanaco, Cali, Colombia, in 2021. Methods: clinical, laboratory and imaging description of 8 patients who attended the endocrinology service. Results and discussion: 87.5% were females, aged 46.8 ± 10 years. Time between vaccine administration and symptoms onset was 13.8 days and the most related vaccine was the Pfizer/BioNTech vaccine followed by Sinovac-CoronaVac and AstraZeneca/AZD1222 vaccines. Subacute thyroiditis presented in 37.5%, Graves Ì disease in 37.5%, silent thyroiditis in 12.5% and hypothyroidism in 12.5%. Myalgias and palpitations were the most common symptoms. Subacute thyroiditis was the most common ultrasound finding. Conclusions: our case series evidences a relationship between thyroid disease and SARS-CoV-2 vaccination. Given controversy remains, further studies will be necessary to establish causality.
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HumanosRESUMEN
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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Background/Objective: Wolfram syndrome (WS) is a rare genetic disorder, in which patients develop early-onset diabetes mellitus (DM), optic nerve atrophy, and neurodegeneration, which has no specific treatment available. Here, we report 2 brothers treated with an insulin pump to manage the alterations of the glycemic levels due to the DM. Case Report: We present the case of 2 siblings diagnosed with Wolfram syndrome 1, they presented with typical endocrinological and neurodegenerative early manifestations, one brother was treated with a sensor-augmented insulin infusion system, and the other with an insulin pump. Both reached a better metabolic state and had improved quality of life. Discussion: The management of WS is still a challenge; however, the use of a sensor-augmented insulin infusion system and the information that it provides may offer better care to patients who require frequent monitoring and adjustments in their treatment. It has been reported that the neurodegenerative progression of WS is also associated with high glucose peaks; therefore, it is necessary to control it, even when it is hard due to the difficult-to-manage DM. There is only 1 previous case report of WS with insulin pump that describes the benefits of continuous subcutaneous insulin infusion and tight metabolic control during pregnancy. Conclusion: The use of insulin pumps may be an effective treatment for DM in WS patients, mainly in terms of improving the prognosis of difficult-to-manage DM.
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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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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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Humanos , Masculino , Femenino , Persona de Mediana Edad , Anciano , Neoplasias de la Tiroides/secundario , Neoplasias de la Mama/patología , Neoplasias Faciales/patología , Carcinoma de Células Renales/patología , Carcinoma Ductal de Mama/patología , Extremidad Superior/patología , Neoplasias Renales/patología , Melanoma/patologíaRESUMEN
Introducción. La diabetes mellitus tipo 2 y la obesidad son enfermedades con alta prevalencia, gran morbi-mortalidad y elevados costos en salud. La cirugía bariátrica ha demostrado efectividad para inducir pérdida de peso y un control adecuado de la glicemia. Métodos. Estudio observacional analítico retrospectivo, realizado entre 2014 y 2019 en una institución de alta complejidad. Se incluyeron pacientes prediabéticos y diabéticos sometidos a cirugía bariátrica tipo baipás gástrico en Y-de-Roux o manga gástrica. Se analizaron la mejoría o resolución de la diabetes y la pérdida del exceso de peso a los 6, 12, 24 y 36 meses luego de la cirugía. Resultados. Se incluyeron 103 pacientes en el estudio, 45 pacientes diabéticos y 58 pacientes prediabéticos. La única variable perioperatoria con diferencia estadísticamente significativa fue el tiempo quirúrgico mayor en el baipás (70 vs. 47,5 minutos; p<0,001). La pérdida de exceso de peso fue mayor en el baipás. Los pacientes diabéticos sometidos a baipás tuvieron un mayor porcentaje de resolución o control comparados con los sometidos a manga gástrica. En los pacientes prediabéticos hubo resolución en ambos grupos luego de 24 meses de seguimiento. Conclusión. El baipás gástrico y la manga gástrica presentan excelentes resultados en cuanto a pérdida de peso y control metabólico en pacientes con diabetes mellitus tipo 2 y prediabetes, pero en nuestros pacientes se lograron resultados superiores en ambos aspectos con el baipás gástrico
Introduction. Type 2 diabetes mellitus and obesity are diseases with high prevalence, high morbidity and mortality and high health costs. Bariatric surgery has proven effective in inducing weight loss and adequate glycemic control. Methods. Retrospective analytical observational study conducted between 2014 and 2019 in a high-complex institution. Prediabetic and diabetic patients undergoing Roux-en-Y gastric bypass or gastric sleeve were included; analyzing the improvement or resolution of diabetes and the loss of excess weight at 6, 12, 24 and 36 months after surgery. Results. One-hundred and three patients were included in the study, 45 diabetic patients and 58 pre-diabetic patients. The only perioperative variable with a statistically significant difference was the longer surgical time in the bypass (70 vs. 47.5 min; p<0.001). Loss of excess weight was always greater in bypass. Diabetic patients who underwent bypass had a higher percentage of resolution or control compared to those who underwent the sleeve procedure. In pre-diabetic patients, there was 100% resolution in both groups after 24 months of follow-up. Conclusion. Gastric bypass and gastric sleeve present excellent results in terms of weight loss and metabolic control in patients with type 2 diabetes mellitus and pre-diabetes, but superior results in both aspects were achieved with the first technique in our patients
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Humanos , Gastroplastia , Cirugía Bariátrica , Estado Prediabético , Derivación Gástrica , Diabetes MellitusRESUMEN
Resumen: La hiperlipidemia es altamente prevalente y contribuye de forma sustancial a la enfermedad cardiovascular aterosclerótica, que es una de las principales causas de morbilidad y mortalidad en Colombia. La reducción del colesterol LDL (c-LDL) produce una disminución del riesgo de enfermedad cardiovascular aterosclerótica y de eventos cardiovasculares adversos. La terapia dirigida a la proproteína convertasa subtilisina/kexina tipo 9 (PCSK9; su sigla en inglés) ha surgido como una herramienta novedosa para el tratamiento de la hiperlipidemia. Inclisiran es un ARN pequeño de doble hebra, que actúa inhibiendo la transcripción de PCSK-9 en los hepatocitos, lo que conduce a una reducción marcada y sostenida del c-LDL. En contraste con otras terapias hipolipemiantes, como estatinas, ezetimibe y anticuerpos monoclonales (MAbs; su sigla en inglés) e inhibidores de PCSK9, inclisiran propone un régimen de dosificación infrecuente de dos o tres veces al año. Su efecto prolongado representa una ventaja frente al incumplimiento del tratamiento, que es una de las principales causas por las que no se alcanzan los objetivos de c-LDL con la terapia estándar. Esta revisión tiene como objetivo presentar y discutir los datos científicos actuales con relación a la eficacia, tolerabilidad y seguridad del inclisiran en el tratamiento de la hipercolesterolemia.
Abstract: Hyperlipidemia is a highly prevalent condition and contributes substantially to atherosclerotic cardiovascular disease (ASCVD), which is one of the main causes of morbidity and mortality in Colombia. The reduction of LDL cholesterol (LDL-C) decreases the risk of ASCVD and adverse cardiovascular events. Targeted therapy for the proprotein convertase subtilisin/kexin type 9 (PCSK-9) has emerged as a novel tool for the treatment of hyperlipidemia. Inclisiran is a small double-stranded small interfering RNA that acts by blocking PCSK-9 transcription in hepatocytes, leading to a marked and sustained reduction in circulating LDL-C levels. In contrast to other lipid-lowering therapies such as statins, ezetimibe and monoclonal antibodies (MAbs) PCSK-9 inhibitors, Inclisiran proposes an infrequent dosing regimen of twice or three times a year. Its prolonged effect represents an advantage over non-compliance of the treatment, which is one of the main reasons why LDL-C goals are not achieved with standard therapy. This review aims to present and discuss current scientific data regarding the efficacy, tolerability and safety of Inclisiran in the treatment of hypercholesterolemia.
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La enfermedad de Von Hippel-Lindau es un síndrome neoplásico, autosómico dominante, caracterizado por una mutación germinal del gen VHL que codifica para la proteína VHL en el cromosoma 3. Esta mutación predispone al desarrollo de tumores benignos y malignos que afectan diferentes órganos, a causa de una ausencia de la inhibición de la vía de la tumo-rigénesis mediada por el factor inducible por hipoxia. La prevalencia de esta enfermedad es de 2 a 3 por 100 000 personas y las neoplasias se localizan con mayor frecuencia en retina, sistema nervioso central, cabeza y cuello, páncreas, riñón, glándula suprarrenal y órgano reproductor. Se clasifica en 2 tipos dependiendo de la presencia o ausencia de feocromocitoma. El feocromocitoma y las neoplasias pancreáticas constituyen las manifestaciones endocrinas más frecuentes. El feocromocitoma se presenta entre el 10-30% de los casos. Puede cursar desde una entidad asintomática hasta una sintomatología variable que incluye la triada clásica de cefalea, palpitaciones y diaforesis. El diagnóstico se realiza mediante pruebas bioquímicas o sus metabolitos que confirman niveles elevados de catecolaminas, y estudios imagenológicos. Las lesiones pancreáticas son con frecuencia asintomáticas y se detectan de forma incidental en estudios de imagen realizados en los pacientes con VHL. Aunque las características clínicas y bioquímicas de estas neoplasias no son patognomóni-cas, pueden ser útiles para sugerir la enfermedad VHL como la etiología subyacente.
Von Hippel-Lindau disease is an autosomal dominant neoplastic syndrome characterized by a germline mutation of the VHL gene encoding the VHL protein on chromosome 3. This mutation predisposes to the development of benign and malignant tumors that affect different organs, due to an absence of inhibition of the hypoxia-inducible factor-mediated tumorigenesis pathway. The prevalence of this disease is 2 to 3 per 100,000 people, and neoplasms are most frequently located in the retina, central nervous system, head and neck, pancreas, kidney, adrenal gland, and the organ. It is classified into 2 types depending on the presence or absence of pheochromocytoma. Pheochromocytoma and pancreatic neoplasms are the most frequent endocrine manifestations. Pheochromocytoma occurs in 1030% of cases. It can range from an asymptomatic entity to a variable symptomatology that includes the classic triad of headache, palpitations and diaphoresis. The diagnosis is made through biochemical tests that confirm high levels of catecholamines and imaging studies. Pancreatic lesions are frequently asymptomatic and are detected incidentally in imaging studies performed in VHL patients. Although the clinical and biochemical characteristics of these malignancies are not pathognomonic, they may be useful in suggesting VHL disease as the underlying etiology.
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INTRODUCTION: Due to the early diagnosis of primary hyperparathyroidism the musculoskeletal manifestations of this disease are becoming less frequent. When this disease manifests secondary to a giant adenoma, it presents with more aggressive symptoms and can have important repercussions such as the hungry bone syndrome after parathyroidectomy. There are few reported cases of hyperparathyroidism secondary to a giant adenoma in the literature, as the presence of a brown tumor is often misinterpreted as a metastatic lesion from an unknown primary tumor. METHODS: We describe a case and performed a literature review to identify all case reports. A literature search was carried out on PubMed/MEDLINE and EMBASE bibliographic databases. All available studies from May 2009 to May 2021 were included. Data were tabulated, and outcomes were cumulatively analyzed. RESULTS: Twenty-four cases of primary hyperparathyroidism due to giant adenoma have been described; the majority were women, with a mean age of 52 years. They presented with heterogeneous symptoms such as palpable nodules (45%), bone pain (33%), brown tumor (12.5%), asymptomatic (12.5%), metabolic profile with a mean calcemia of 13.8 mg/dL, PTH 1109 ng/L, and mean tumor weight of 47.24 g. CONCLUSION: Primary hyperparathyroidism due to giant adenoma increases the risk of developing potentially serious postoperative complications such as hungry bone syndrome. This implies the need of implementing preventive measures comprising administration of intravenous zoledronic acid and early supplementation of oral calcium to prevent complications after resection.
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BACKGROUND AND AIMS: Thyroid storm and severe thyrotoxicosis remain among the most frequent endocrine emergencies, and first-line hyperthyroidism treatment is not always an option. Since the first report in 1970, plasmapheresis is a second-line treatment for severe or otherwise untreatable thyrotoxicosis when rapid euthyroidism is desired. METHODS: We present a retrospective study of the experience in treating thyrotoxicosis with plasmapheresis between 2012 and 2020 in two specialized centers in Colombia. We register the demographic and clinical characteristic and compare the thyroid hormones and other biochemical measurements before and after treatment. RESULTS: Data from 19 patients was obtained, 58% female with a median age of 35 years (IQR 23.5), and most of them with Graves' disease. The most frequent indication for plasmapheresis was thyroid storm. A median of 4 (IQR 2) sessions lead to a significant reduction in FT4 (P .0001) and TT3 (P < .0003) with a nonsignificant decrease in beta-blocker (P .7353) dose, no change in hepatic enzymes, and no adverse events. After plasmapheresis, thyroidectomy was performed in 10 patients. CONCLUSIONS: Plasmapheresis is an effective and safe treatment option for reducing circulating thyroid hormones in severe thyrotoxicosis when other forms of treatment are contraindicated or in case of urgent thyroid and non-thyroid surgery. It is limited by its cost and the need for highly specialized resources.
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Plasmaféresis/métodos , Tirotoxicosis/terapia , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Plasmaféresis/efectos adversos , Propranolol/uso terapéutico , Estudios Retrospectivos , Hormonas Tiroideas/sangre , Tirotoxicosis/sangre , Adulto JovenRESUMEN
OBJECTIVE: To evaluate the aspirin resistance prevalence in patients with previous ischemic cerebrovascular disease undergoing aspirin therapy for secondary prevention. MATERIALS AND METHODS: Three hundred fifty patients presenting ischemic strokes and 100 healthy controls under aspirin treatment were evaluated using the optic platelet aggregation test. RESULTS: Aspirin resistance was found in 7.4% of the patients with ischemic stroke and 4% of controls. Aspirin resistance was associated with stroke recurrence in univariate analysis (p = 0.004). Aspirin resistance was not associated with smoking, diabetes, or hypercholesterolemia. CONCLUSION: Aspirin resistance is present in Colombian patients with ischemic stroke as well as in healthy controls.
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RESUMEN El coronavirus 2 del síndrome respiratorio agudo grave es el tercer betacoronavirus desde el año 2003 capaz de ocasionar una infección del tracto respiratorio inferior, llevando, en casos críticos, al síndrome de dificultad respiratoria aguda y la muerte. La edad avanzada, la hipertensión arterial y la diabetes mellitus son, entre otros, tres factores determinantes en los peores desenlaces clínicos. Múltiples mecanismos pueden explicar la mayor susceptibilidad de las personas diabéticas a las infecciones respiratorias. La hiperglucemia crónica altera tanto a la inmunidad humoral como al celular. Esta enfermedad predispone a la sobreexpresión de la proteína de la membrana celular que sirve como receptora del virus y a una respuesta inflamatoria exacerbada, aumentando el riesgo de una descompensación y de la aparición de crisis hiperglicémicas. Ante la ausencia de un tratamiento efectivo o de una vacuna, todos los esfuerzos deben hacerse para procurar un buen control metabólico de los pacientes con diabetes mellitus con y sin COVID-19. Por lo anterior, se plantean en este artículo de reflexión, diferentes propuestas para el tratamiento de la diabetes mellitus en la unidad de cuidados intensivos, sin descartar la forma ambulatoria, en donde la telemedicina y otras tecnologías permitirán acortar la distancia y mantener las medidas de aislamiento preventivo.
SUMMARY Severe acute respiratory syndrome coronavirus 2 is the third beta-coronavirus since 2003 capable of causing lower respiratory tract infection, leading to severe cases of acute respiratory distress syndrome and death. Advanced age, high blood pressure and diabetes mellitus are three predictors of worse clinical outcomes. Multiple mechanisms could explain the greater susceptibility of diabetic people to respiratory infections. Chronic hyperglycemia alters both humoral and cellular immunity. This disease predisposes to virus receptor overexpression and an exaggerated inflammatory response, increasing the risk of decompensation and hyperglycemic crises. In the absence of an effective vaccine or treatment for the virus, this vicious circle should be stopped with an emphasis on controlling glucose. This paper presents different proposals for the treatment of diabetes mellitus both on an outpatient basis where telemedicine and other technologies will make it possible to continue adequate ambulatory care to maintain preventive isolation measures up to care in the intensive care unit.
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Humanos , Diabetes Mellitus , SARS-CoV-2 , COVID-19 , Telemedicina , Pandemias , Control Glucémico , GlucosaRESUMEN
OBJECTIVE: The aim was to describe the clinical features of patients with ectopic Cushing syndrome (ECS) from Colombia and compare these findings with other series to provide the best management for these patients. METHODS: Records of patients with ECS from 1986 to 2017 were retrospectively reviewed; patients with a diagnosis of adrenal or pituitary Cushing syndrome (CS) were excluded. RESULTS: Fourteen patients with ECS were analyzed in this study. The mean age was 54.4 (SD 17.1) years, and the female to male ratio was 1.33:1. Regarding the etiology of ECS, four patients had lung carcinoids (28.6%), three had small-cell lung carcinoma (21.4%), three had pancreatic neuroendocrine tumors (21.4%), one had medullary thyroid cancer (7.1%), one had non-metastatic pheochromocytoma (7.1%), one had metastatic thymoma (7.1%) and one patient had an occult source of ACTH (7.1%). The most common clinical features at presentation were moon-face, muscle weakness, diabetes mellitus and hypertension. Hyperpigmentation was present in 36% of patients, and 12 patients had hypokalemia with a mean value of 2.3 mEq/L (SD 0.71). The median basal cortisol, 24-hour urinary free cortisol (UFC) and ACTH were 30.5 ug/dL (IQR 21-59 ug/dL), 2,600 ug/24 h (IQR 253-6,487 ug/24 h) and 91 pg/mL (IQR 31.9-141.9), respectively. Thirteen patients (92.8%) had the site of the primary lesion identified. Six patients had undergone a surgical intervention to address the primary tumor. Resection was curative in 28.5% of patients. Death occurred in 57.1% of patients, and the median overall survival was 27 months. Intrathoracic tumors had the most aggressive behavior. CONCLUSION: ECS is a rare disease; however, it is associated with high morbidity and mortality. A rapid intervention supported by an interdisciplinary group is required to improve overall survival and quality of life.
Asunto(s)
Síndrome de ACTH Ectópico , Síndrome de Cushing , Síndrome de ACTH Ectópico/diagnóstico , Colombia , Síndrome de Cushing/etiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Calidad de Vida , Estudios RetrospectivosRESUMEN
RESUMEN Introducción: la cetoacidosis diabética es una de las complicaciones agudas más graves de la diabetes. Pocos estudios en Latinoamérica describen el perfil clínico y los desenlaces de la población adulta con esta condición. El objetivo de este estudio es determinar las características demográficas y clínicas de los pacientes adultos con esta enfermedad. Para esto se hizo énfasis en los factores precipitantes y en la determinación del porcentaje de letalidad intrahospitalaria por cualquier causa. Métodos: estudio de cohorte retrospectivo de pacientes mayores de 18 años admitidos por cetoacidosis diabética en el Hospital Universitario San Vicente Fundación de Medellín-Colombia, entre enero de 2012 y diciembre de 2015. Resultados: se incluyeron 159 pacientes con diagnóstico de cetoacidosis diabética. La mediana de la edad fue de 46 años. 40 individuos (25,2 %) tenían diabetes tipo 1, 107 (67,3 %) diabetes tipo 2 y, 12 (7,6 %), otro tipo de diabetes. El factor precipitante de cetoacidosis diabética más común fue la suspensión del tratamiento hipoglucemiante (36 %), seguida de infección (32 %) y diabetes de novo (28 %). La mediana de la estancia hospitalaria fue de 8 días. 12 pacientes fallecieron. Conclusión: la evaluación de los casos de cetoacidosis diabética en este estudio demostró diferencias importantes en la presentación clínica de aquellos con diabetes tipo 1 y tipo 2. La suspensión del tratamiento fue el factor precipitante más frecuente, seguido por la infección. La letalidad en este estudio fue de 7,5 %, superior a la tasa de 1 % que tienen los países desarrollados, evidenciando la necesidad de mejorar la atención de estos pacientes.
SUMMARY Importance: Ketoacidosis is one of the most serious complications of diabetes. Few studies in Latin Ameri-ca describe the clinical profile and outcomes of adults with diabetic ketoacidosis. We proposed to determine demographic and clinical features, precipitating fac-tors and mortality in adults with diabetic ketoacidosis at a university hospital. Methods: A retrospective cohort study of patients older than 18 years of age admitted to the Hospital Universitario San Vicente Fundación (Medellín, Colombia) were reviewed from 2012 to 2015. Results: 159 adult patients with diabetic ketoacidosis were included. The median age was 46 years. Forty patients (25,2 %) had type 1 diabetes, 107 (67,3%) type 2 diabetes and 12 (7,6%) other types of diabetes. The most common diabetic ketoacidosis precipitating factor was suspension of medical treatment (36%), followed by infection (32%) and new diagnosis of diabetes (28%). The median hospital stay was 8 days. Twelve patients died. Conclusion: The evaluation of patients with diabetic ketoacidosis in this study showed important differences in the clinical presentation of those with type 1 and type 2 diabetes. Suspension of treatment was the most frequent precipitating factor, followed by infection. Mortality in this cohort was 7,5% compared to 1% in developed countries, showing the need to urgently improve the care of these patients.
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Humanos , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Cetoacidosis DiabéticaRESUMEN
RESUMEN El coma mixedematoso es la complicación más grave de un hipotiroidismo. Ocurre, por lo general, en mujeres ancianas con hipotiroidismo conocido sin un adecuado manejo y en presencia de un evento desencadenante. El diagnóstico es difícil y debe realizarse en forma oportuna para disminuir el riesgo de muerte. El coma es una de las presentaciones neurológicas de esta urgencia endocrinológica y no es necesario su presencia para el diagnóstico. En este reporte de caso se presentan varías manifestaciones inusuales en un paciente masculino con hipotiroidismo profundo que, al diagnóstico, debutó con coma mixedematoso con predictores de mal pronóstico durante la hospitalización, pero debido al abordaje temprano y el manejo integral, se dio una resolución satisfactoria a esta urgencia endocrinológica infrecuente.
SUMMARY Myxedema coma is the most serious complication of hypothyroidism. It usually occurs in the context of elderly women, with known hypothyroidism without proper management and in the presence of a triggering event. The diagnosis is challenging and must be made in a timely manner to prevent the development of adverse outcomes. Coma is one of the neurological manifestations of the entity, not being necessary for its diagnosis. This case report presents a constellation of unusual manifestations of a male patient with myxedema coma at the debut of severe hypothyroidism with predictors of poor prognosis during hospitalization, but due to the early approach and comprehensive management, this uncommon endocrinological emergency was satisfactorily resolved.