RESUMEN
Gastrinomas are neuroendocrine tumors usually located in the duodenum and pancreas, in the context of a Multiple Endocrine Neoplasm and forming a Zollinger-Ellison syndrome. The location of this type of lymph node tumor is extremely unusual and its early diagnosis constitutes a real challenge to be able to establish an adequate treatment and manage the complications that these entail. We present the case of a 64-year-old male patient with a lymph node gastrinoma and whose surgical removal resulted in the immediate remission of the patient's symptoms.
Asunto(s)
Gastrinoma , Neoplasia Endocrina Múltiple , Neoplasias Pancreáticas , Síndrome de Zollinger-Ellison , Masculino , Humanos , Persona de Mediana Edad , Gastrinoma/diagnóstico , Gastrinoma/cirugía , Gastrinoma/patología , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/cirugía , Neoplasias Pancreáticas/patología , Síndrome de Zollinger-Ellison/diagnóstico , Síndrome de Zollinger-Ellison/patología , Síndrome de Zollinger-Ellison/cirugía , Neoplasia Endocrina Múltiple/patología , Ganglios Linfáticos/patologíaRESUMEN
Recently, biallelic germline variants of the DNA glycosylase genes MUTYH and NTHL1 were linked to polyposis susceptibility. Significant fractions remain without a molecular explanation, warranting searches for underlying causes. We used exome sequencing to investigate clinically well-defined adenomatous polyposis cases and families from Finland (N=34), Chile (N=21), and Argentina (N=12), all with known susceptibility genes excluded. Nine index cases (13%) revealed germline variants with proven or possible pathogenicity in the DNA glycosylase genes, involving NEIL1 (mono- or biallelic) in 3 cases, MUTYH (monoallelic) in 3 cases, NTHL1 (biallelic) in 1 case, and OGG1 (monoallelic) in 2 cases. NTHL1 was affected with the well-established, pathogenic c.268C>T, p.(Gln90Ter) variant. A recurrent heterozygous NEIL1 c.506G>A, p.(Gly169Asp) variant was observed in two families. In a Finnish family, the variant occurred in trans with a truncating NEIL1 variant (c.821delT). In an Argentine family, the variant co-occurred with a genomic deletion of exons 2 - 11 of PMS2. Mutational signatures in tumor tissues complied with biological functions reported for NEIL1. Our results suggest that germline variants in DNA glycosylase genes may occur in a non-negligible proportion of unexplained colon polyposis cases and may predispose to tumor development.
RESUMEN
Los gastrinomas son tumores neuroendocrinos localizados generalmente en duodeno y páncreas, en el contexto de una neoplasia endocrina múltiple y configurando un síndrome de Zollinger-Ellison. La localización de este tipo de tumor en ganglios linfáticos es extremadamente inusual y su diagnóstico precoz constituye un verdadero reto para poder instaurar un tratamiento adecuado y manejar las complicaciones que estos conllevan. Se presenta el caso de un paciente varón de 64 años con un gastrinoma de ganglio linfático y cuya extirpación quirúrgica resultó en la remisión inmediata del cuadro clínico del paciente.
Gastrinomas are neuroendocrine tumors usually located in the duodenum and pancreas, in the context of a Multiple Endocrine Neoplasm and forming a Zollinger-Ellison syndrome. The location of this type of lymph node tumor is extremely unusual and its early diagnosis constitutes a real challenge to be able to establish an adequate treatment and manage the complications that these entail. We present the case of a 64-year-old male patient with a lymph node gastrinoma and whose surgical removal resulted in the immediate remission of the patient's symptoms.
RESUMEN
Colorectal cancer (CRC) is the second most frequent neoplasm in Chile and its mortality rate is rising in all ages. However, studies characterizing CRC according to the age of onset are still lacking. This study aimed to identify clinical, pathological, and molecular features of CRC in Chilean patients according to the age of diagnosis: early- (≤50 years; EOCRC), intermediate- (51-69 years; IOCRC), and late-onset (≥70 years; LOCRC). The study included 426 CRC patients from Clinica Las Condes, between 2007 and 2019. A chi-square test was applied to explore associations between age of onset and clinicopathological characteristics. Body Mass Index (BMI) differences according to age of diagnosis was evaluated through t-test. Overall (OS) and cancer-specific survival (CSS) were estimated by the Kaplan-Meier method. We found significant differences between the age of onset, and gender, BMI, family history of cancer, TNM Classification of Malignant Tumors stage, OS, and CSS. EOCRC category was characterized by a family history of cancer, left-sided tumors with a more advanced stage of the disease but better survival at 10 years, and lower microsatellite instability (MSI), with predominant germline mutations. IOCRC has shown clinical similarities with the EOCRC and molecular similarities to the LOCRC, which agrees with other reports.
Asunto(s)
Biomarcadores de Tumor/genética , Neoplasias Colorrectales/genética , Neoplasias Colorrectales/patología , Adulto , Edad de Inicio , Anciano , Anciano de 80 o más Años , Índice de Masa Corporal , Chile/epidemiología , Neoplasias Colorrectales/mortalidad , Neoplasias Colorrectales/terapia , Metilación de ADN , Femenino , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Herencia , Humanos , Masculino , Inestabilidad de Microsatélites , Persona de Mediana Edad , Estadificación de Neoplasias , Fenotipo , Sistema de Registros , Estudios Retrospectivos , Medición de Riesgo , Factores de Riesgo , Factores Sexuales , Factores de TiempoRESUMEN
Resumen Objetivo: Analizar los resultados quirúrgicos y oncológicos de pacientes con adenocarcinoma de recto (AR) operados con asistencia robótica. Materiales y Método: Cohorte prospectiva entre 2014-2019. Criterios de inclusión: pacientes con AR primario, sometidos a una resección de recto con asistencia robótica con intención curativa. Criterios de exclusión: histología no adenocarcinoma. Evaluación de datos clínico-quirúrgicos. Análisis estadístico descriptivo. Resultados: Se incluyeron 37 pacientes; 20 (54%) fueron hombres y la edad promedio fue 58,7 años. La distancia promedio desde el margen anal al borde distal del tumor fue 6,6 cm (i: 2-12 cm). La quimiorradioterapia (neoadyuvancia) se indicó en 26 pacientes. La cirugía más frecuente fue la resección anterior baja de recto y el tiempo operatorio promedio fue 266 min. Se realizaron dos conversiones a laparotomía. Una o más complicaciones se observaron en 17 (45,9%) pacientes, 9 de ellos fueron Clavien-Dindo III o IV y se reoperaron 5 pacientes (13%). No hubo transfusiones sanguíneas ni mortalidad posoperatoria. La estancia hospitalaria postoperatoria promedio fue 9,6 días (i: 3-34 d). El promedio de linfonodos resecados fue 15 (i 4-45). Los márgenes quirúrgicos fueron negativos en todos los pacientes. Se restituyó el tránsito intestinal en 28/32 (87,5%) pacientes. El promedio de seguimiento fue 21 meses (1-56), la sobrevida global y libre de enfermedad fue 100%. Discusión y Conclusión: La proctectomía con asistencia robótica ha demostrado ser segura en términos de resultados quirúrgicos tempranos y en criterios oncológicos de la pieza operatoria.
Aim: To analyze the surgical and oncological results of patients with rectal adenocarcinoma (RA) operated with robotic assistance. Materials and Method: Prospective cohort study, consecutive sample of patients between 2014-2017. Inclusion criteria: patients with primary RA, undergoing rectal resection, with robotic assistance with curative intention. Exclusion criteria: histology not adenocarcinoma. Evaluation of clinical-surgical data. Descriptive statistical analysis. Results: 37 patients were included; 20 (54%) were men and average age was 58.7 years. The average distance from the anal margin to the distal edge of the tumor was 6.6 cm (2-12 cm). Chemoradiotherapy (neoadyuvant) was indicated in 26 patients. The most frequent surgery was low anterior resection of the rectum and the average operating time was 266 minutes. Two conversions to laparotomy were performed. One or more complications were observed in 17 (45.9%) patients, 9 of them were Clavien-Dindo III or IV, 5 patients (13%) were reoperated. There were no blood transfusions and no postoperative mortality. The average postoperative hospital stay was 9.6 days (3-34). The average of resected lymph nodes was 15. Surgical margins were negative in all patients. Intestinal transit was restored in 28/32 (87.5%) patients. The average follow-up was 21 months (1-56), the overall and disease-free survival was 100%. Discussion and Conclusion: Proctectomy with robotic assistance has proved to be safe in terms of early surgical results and oncologic indicators of the surgical piece.
Asunto(s)
Humanos , Neoplasias del Recto/cirugía , Procedimientos Quirúrgicos Robotizados/métodos , Periodo Posoperatorio , Estudios de Seguimiento , Resultado del TratamientoRESUMEN
El embarazo en cicatriz de cesárea previa (CSP) es un tipo raro de embarazo ectópico que debe ser diagnosticado tempranamente para poder encontrar la mejor opción terapéutica. Presentamos un caso de CSP, inicialmente mal diagnosticado como una gestación no evolutiva que fue sometida a legrado uterino. La paciente fue referida a nuestra institución, donde el manejo médico conservador con metotrexato falló, y la única opción fue la resección quirúrgica del CSP. El CSP debe de ser sospechado y diagnosticado lo más temprano posible. En países en vías de desarrollo, se debe priorizar la prevención de hemorragia masiva así como de morbilidad materna compleja. El abordaje mínimamente invasivo debe de ser planificado como el tratamiento de primera línea sobre el manejo médico.
Cesarean scar pregnancy (CSP) is a rare type of ectopic pregnancy that should be diagnosed early in order to seek the best therapeutic option. We present a case of CSP initially misdiagnosed as a non-viable pregnancy that undergone curettage. Patient was referred to our institution where conservative medical management with methotrexate failed, and the only option was surgical resection of CSP. CSP should be suspected and diagnosed as early as possible. In low-income countries the prevention of massive blood loss along with serious maternal morbidity should be priorized. The use of minimally invasive approach should be planned as a first-line treatment over medical management.
RESUMEN
ANTECEDENTES Y PROPÓSITO DEL ESTUDIO: la hemorragia digestiva alta es una causa importante de ingreso hospitalario y constituye la principal emergencia gastroenterológica, con una tasa de mortalidad de hasta el 14%. En el Perú no existen estudios sobre el uso de la escala de Glasgow-Blatchford para predecir mortalidad por hemorragia digestiva alta. El objetivo de este estudio es realizar la validación externa de la escala de Glasgow-Blatchford y establecer su mejor punto de corte para predecir mortalidad por hemorragia digestiva alta en un hospital de Lima, Perú. Métodos: estudio de validación diagnóstica, analítico, longitudinal, de tipo retrospectivo, con datos de pacientes con diagnóstico clínico y endoscópico de hemorragia digestiva alta atendidos en la Unidad de Hemorragia Digestiva del Hospital Nacional Edgardo Rebagliati Martins, entre junio de 2012 y diciembre de 2013. Calculamos el área bajo la curva ROC (receiver operating characteristic) de la escala de Glasgow-Blatchford para predecir mortalidad, con un intervalo de confianza al 95%. Resultados: un total de 339 registros fueron analizados. El 57,5% fueron varones y la edad media (desviación estándar) fue de 67,0 (15,7) años. La mediana de la escala de Glasgow-Blatchford obtenida en la población fue de 12. El análisis ROC para mortalidad dio un área bajo la curva de 0,59 (IC95% 0,5-0,7). Se estratificó por tipo de hemorragia digestiva alta, obteniendo un área bajo la curva de 0,66 (IC95% 0,53-0,78) para el tipo no variceal. Conclusiones: en la población estudiada, la escala de Glasgow-Blatchford no posee una validez diagnóstica adecuada para predecir mortalidad
BACKGROUND AND AIM: Upper gastrointestinal bleeding is a major cause of hospitalization and the most prevalent emergency worldwide, with a mortality rate of up to 14%. In Peru, there have not been any studies on the use of the Glasgow-Blatchford Scoring System to predict mortality in upper gastrointestinal bleeding. The aim of this study is to perform an external validation of the Glasgow-Blatchford Scoring System and to establish the best cutoff for predicting mortality in upper gastrointestinal bleeding in a hospital of Lima, Peru. METHODS: This was a longitudinal, retrospective, analytical validation study, with data from patients with a clinical and endoscopic diagnosis of upper gastrointestinal bleeding treated at the Gastrointestinal Hemorrhage Unit of the Hospital Nacional Edgardo Rebagliati Martins between June 2012 and December 2013. We calculated the area under the curve for the receiver operating characteristic of the Glasgow-Blatchford Scoring System to predict mortality with a 95% confidence interval. RESULTS: A total of 339 records were analyzed. 57.5% were male and the mean age (standard deviation) was 67.0 (15.7) years. The median of the Glasgow-Blatchford Scoring System obtained in the population was 12. The ROC analysis for death gave an area under the curve of 0.59 (95% CI 0.5-0.7). Stratifying by type of upper gastrointestinal bleeding resulted in an area under the curve of 0.66 (95% CI 0.53-0.78) for non-variceal type. CONCLUSIONS: In this population, the Glasgow-Blatchford Scoring System has no diagnostic validity for predicting mortality
Asunto(s)
Femenino , Humanos , Masculino , Hemorragia Gastrointestinal/sangre , Hemorragia Gastrointestinal/patología , Escala de Consecuencias de Glasgow/normas , Tracto Gastrointestinal/anomalías , Tracto Gastrointestinal/lesiones , Hepatopatías/patología , Hemorragia Gastrointestinal/complicaciones , Hemorragia Gastrointestinal/metabolismo , Escala de Consecuencias de Glasgow , Tracto Gastrointestinal/metabolismo , Tracto Gastrointestinal , Hepatopatías/metabolismo , Estudios RetrospectivosRESUMEN
BACKGROUND AND AIM: Upper gastrointestinal bleeding is a major cause of hospitalization and the most prevalent emergency worldwide, with a mortality rate of up to 14%. In Peru, there have not been any studies on the use of the Glasgow-Blatchford Scoring System to predict mortality in upper gastrointestinal bleeding. The aim of this study is to perform an external validation of the Glasgow-Blatchford Scoring System and to establish the best cutoff for predicting mortality in upper gastrointestinal bleeding in a hospital of Lima, Peru. METHODS: This was a longitudinal, retrospective, analytical validation study, with data from patients with a clinical and endoscopic diagnosis of upper gastrointestinal bleeding treated at the Gastrointestinal Hemorrhage Unit of the Hospital Nacional Edgardo Rebagliati Martins between June 2012 and December 2013. We calculated the area under the curve for the receiver operating characteristic of the Glasgow-Blatchford Scoring System to predict mortality with a 95% confidence interval. RESULTS: A total of 339 records were analyzed. 57.5% were male and the mean age (standard deviation) was 67.0 (15.7) years. The median of the Glasgow-Blatchford Scoring System obtained in the population was 12. The ROC analysis for death gave an area under the curve of 0.59 (95% CI 0.5-0.7). Stratifying by type of upper gastrointestinal bleeding resulted in an area under the curve of 0.66 (95% CI 0.53-0.78) for non-variceal type. CONCLUSIONS: In this population, the Glasgow-Blatchford Scoring System has no diagnostic validity for predicting mortality.
Asunto(s)
Técnicas de Apoyo para la Decisión , Hemorragia Gastrointestinal/mortalidad , Índice de Severidad de la Enfermedad , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Hemorragia Gastrointestinal/diagnóstico , Hospitales Públicos , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Perú , Estudios Retrospectivos , Adulto JovenRESUMEN
Introducción: La emigración médica en el Perú supone un importante problema en la búsqueda de la consolidación de un sistema de salud sostenible. Objetivos: Estimar la prevalencia de intención de emigración y sus factores asociados según género en médicos peruanos recién egresados. Diseño y lugar de estudio: Estudio analítico de corte transversal llevado a cabo en Lima, Perú, durante el año 2010. Participantes: Se incluyó a 289 médicos egresados de universidades de peruanas. Intervenciones: Se aplicó una encuesta anónima y autoadministrada que evaluaba la intención de emigración para laborar y sus factores asociados. Los datos fueron analizados con el paquete estadístico STATA 11.2; se utilizó un modelo lineal generalizado log-binomial como método de regresión de múltiples variables. Principales medidas de resultados: Intención de emigración autorreportada. Resultados: La prevalencia de intención de emigración fue de 42,1%; esta fue mayor en el género masculino (50,0% versus 36,4%; p<0,01). Un manejo intermedio/avanzado del idioma inglés (RP: 1,77; IC95%: 1,04 a 2,98) y expectativas de ingreso económico mayor o igual a 3 600 dólares americanos mensuales en los siguientes cinco años (RP: 1,55; IC95%: 1,09 a 2,21) se encontraron asociados con la intención de emigrar en varones. En mujeres, estuvieron asociados el haber culminado la carrera sin retraso (RP: 1,66; IC95%: 1,02 a 2,71) y proyectarse a ganar 3 600 dólares o más (RP: 1,71; IC95%: 1,14 a 2,57). Conclusiones: Existe una alta prevalencia de intención en emigración médica; el factor económico se asocia independientemente; los idiomas y la regularidad académica difieren según género.
Introduction: Medical emigration is a really important problem for Peru in order to consolidate a sustainable health system. Objectives: To determine the prevalence of emigration intention and associated factors according to gender in recently Peruvian graduated physicians. Design and setting: Cross-sectional, analytic study developed in Lima, Peru in 2010. Participants: Two hundred eightynine recently graduated physicians from Peruvian universities were included. Interventions: An anonymous and auto-administered questionnaire was handed to the study subjects to measure their intention to work abroad. Data was analyzed using the statistical package STATA 11.2, and a log-binomial generalized lineal model was used as regression model for multiple variables. Main outcome measures: Self-reported emigration intention. Results: Prevalence of intended emigration was 42.1%, higher in males (50.0% versus 36.4%; p<0.01). For males, an intermediate/advanced level of English proficiency (PR=1.77; 95%CI: 1.04-2.98) and a monthly income expectation greater than or equal to 3600 U.S. dollars in five years (PR=1.55; 95%CI: 1.09-2.21) were associated with the intention of emigrating. In women there was association with fulfilling the career without delay (PR:1.66; 95%CI: 1.02-2.71) and expectation to win 3600 USD or more in five years (PR:1.71; 95%CI: 1.14-2.57). Conclusions: There was high prevalence of emigration intention in the studied population; the economic factor was associated independently. However, English proficiency and academic regularity differed by gender.