Complicaciones asociadas al reservorio ileal en colitis ulcerativa versus poliposis familiar adenomatosa: Impacto en la calidad de vida del paciente / Ileal reservoir-associated complications in ulcerative colitis versus familial adenomatous polyposis: Impact on patient quality of life

Antecedentes: La proctocolectomía con reservorio es el procedimiento quirúrgico de elección para los pacientes con colitis ulcerosa y poliposis adenomatosa familiar. Objetivos: Evaluar las complicaciones posoperatorias a largo plazo (1994-2019) en pacientes operados por poliposis familiar adenomatosa (PFA) y colitis ulcerativa (CU) y el grado de satisfacción con la intervención. Métodos: Estudio observacional basado en el análisis de una base de datos retrospectiva con seguimiento prospectivo en 115 pacientes consecutivos: 79 con CU y 36 con PFA. Se ha realizado el seguimiento de un total de 88 pacientes, 60 con CU y 28 con PFA. Resultados: Se evaluaron 48 varones (54,4%) con una edad media de 44,8 ± 10,6 años. Las indicaciones para la cirugía fueron enfermedad intratable en 54 pacientes (47%), displasia/cáncer en 43 (37%), sangrado severo en cuatro (4%) y perforación en tres (3%). Se realizó una proctectomía y mucosectomía del muñón rectal en 67 (76,1%), y una técnica de doble grapado en 21. Se realizó una ileostomía protectora en todos los pacientes con CU y PFA. No se encontraron diferencias en las complicaciones tempranas entre los dos grupos. Las complicaciones tardías mostraron una mayor tasa de reservoritis en los pacientes de la CU respecto a la PFA (44,9 vs. 14,3%, p = 0,001), con más reservoritis refractaria en el grupo de la CU (13,3 vs. 0%, p = 0,04) sin diferencias en cuanto a obstrucción intestinal, estenosis o fístulas anastomóticas. La satisfacción general y la adaptación se consideraron buenas en el 87% de los pacientes con CU y solo en el 57% del grupo de PFA (p < 0,01). Conclusiones: La proctocolectomía con reservorio ileal tiene una morbilidad y mortalidad comparables, excepto por la mayor tasa de reservoritis en los pacientes con antecedentes de CU, a pesar de esta contingencia hay una mejor calidad de vida y mayor aceptación de la cirugía en los pacientes con CU que en los pacientes con PFA.(AU)

Background: Proctocolectomy with ileal reservoir is the surgical procedure of choice for patients with ulcerative colitis and familial adenomatous polyposis. Objectives: To evaluate long-term postoperative complications (1994-2019) in patients operated for familial adenomatous polyposis (FAP) and ulcerative colitis (UC) and the degree of satisfaction with the procedure. Methods: Observational study based on the analysis of a retrospective database with prospective follow-up in 115 consecutive patients: 79 with UC and 36 with FAP. A total of 88 patients were followed up, 60 with UC and 28 with PFA. Results: 48 males (54.4%) with a mean age of 44.8 ± 10.6 years were evaluated. Indications for surgery were intractable disease in 54 patients (47%), dysplasia/cancer in 43 (37%), severe bleeding in 4 (4%) and perforation in 3 (3%). A proctectomy and mucosectomy of the rectal stump was performed in 67 (76.1%), and a double stapling technique in 21. A protective ileostomy was performed in all patients with UC and FAP. No differences were found in early complications between the two groups. Late complications showed a higher rate of reservoritis in UC patients compared to FAP (44.9 vs. 14.3%, p = 0.001), with more refractory reservoritis in the UC group (13.3 vs. 0%, p = 0.04) with no differences in bowel obstruction, strictures, or anastomotic fistulas. Overall satisfaction and adaptation were considered good in 87% of UC patients and only 57% in the FAP group (p < 0.01). Conclusions: Proctocolectomy with ileal reservoir has comparable morbidity and mortality, except for the higher rate of reservoritis in patients with a history of UC, despite this contingency there is a better quality of life and greater acceptance of surgery in UC patients than in FAP patients.(AU)

Ileal reservoir-associated complications in ulcerative colitis versus familial adenomatous polyposis: Impact on patient quality of life. / Complicaciones asociadas al reservorio ileal en colitis ulcerativa versus poliposis familiar adenomatosa: Impacto en la calidad de vida del paciente.

BACKGROUND: Proctocolectomy with ileal reservoir is the surgical procedure of choice for patients with ulcerative colitis and familial adenomatous polyposis. OBJECTIVES: To evaluate long-term postoperative complications (1994-2019) in patients operated for familial adenomatous polyposis (FAP) and ulcerative colitis (UC) and the degree of satisfaction with the procedure. METHODS: Observational study based on the analysis of a retrospective database with prospective follow-up in 115 consecutive patients: 79 with UC and 36 with FAP. A total of 88 patients were followed up, 60 with UC and 28 with PFA. RESULTS: 48 males (54.4%) with a mean age of 44.8 ± 10.6 years were evaluated. Indications for surgery were intractable disease in 54 patients (47%), dysplasia/cancer in 43 (37%), severe bleeding in 4 (4%) and perforation in 3 (3%). A proctectomy and mucosectomy of the rectal stump was performed in 67 (76.1%), and a double stapling technique in 21. A protective ileostomy was performed in all patients with UC and FAP. No differences were found in early complications between the two groups. Late complications showed a higher rate of reservoritis in UC patients compared to FAP (44.9 vs. 14.3%, p = 0.001), with more refractory reservoritis in the UC group (13.3 vs. 0%, p = 0.04) with no differences in bowel obstruction, strictures, or anastomotic fistulas. Overall satisfaction and adaptation were considered good in 87% of UC patients and only 57% in the FAP group (p < 0.01). CONCLUSIONS: Proctocolectomy with ileal reservoir has comparable morbidity and mortality, except for the higher rate of reservoritis in patients with a history of UC, despite this contingency there is a better quality of life and greater acceptance of surgery in UC patients than in FAP patients.

Pólipos adenomatosos en familiares de primer grado de pacientes con cáncer del colon

Introducción: El cáncer colorectal constituye en la actualidad la segunda neoplasia maligna más frecuente. La mayoría son esporádicos, otra pequeña proporción corresponde a formas hereditarias. Sin embargo, se estima que en un 15 % a 20 % de casos pueden existir un componente hereditario asociado. Los familiares de primer grado de pacientes con cáncer colorrectal, constituyen un universo de mayor riesgo que la población general de padecer esta enfermedad, por lo que se recomienda el cribado en estos individuos. Objetivo: Determinar la frecuencia de pólipos adenomatosos en individuos con familiares de primer grado diagnosticados con cáncer de colon. Métodos: Se realizó un estudio descriptivo, de corte transversal, que incluyó a 126 adultos con familiares de primer grado de consanguinidad con cáncer de colon, a los que se les realizó colonoscopia en el Instituto de Gastroenterología entre diciembre de 2019 y diciembre 2021. Se describen las características de los pólipos adenomatosos encontrados. Resultados: La media para la edad fue de 55,9 ± 10,6, predominaron las mujeres. Se encontraron pólipos adenomatosos; 27 eran sésiles y 12 pediculados; en 26 (66,7 %), el tamaño era menor de 10 mm. La mayoría de los pólipos, fueron del tipo tubular. Se observó diversidad en cuanto a la localización de las lesiones, sin que existiera un predominio en ningún segmento anatómico. Conclusiones: Lesiones precursoras del cáncer colorrectal, como los pólipos adenomatosos, son frecuentes en individuos asintomáticos con familiares de primer grado de consanguinidad que padecieron esta neoplasia maligna.

Introduction : Colorectal cancer is currently the second most frequent neoplasm. Most of them are sporadic, another small proportion corresponds to hereditary forms. However, it is estimated that in 15-20% of cases there may be an associated hereditary component. First-degree relatives of patients with colorectal cancer constitute a universe with a higher risk of developing this disease than that of the general population, so screening is recommended in these individuals. Objective : To determine the frequency of adenomatous polyps in individuals with first-degree relatives diagnosed with colon cancer. Methods : A descriptive, cross-sectional study was carried out, including 126 adult relatives with first-degree blood relatives with colon cancer, who underwent colonoscopy at the Institute of Gastroenterology between December 2019 and December 2021. The characteristics of the adenomatous polyps found are described. Results : The mean for age was 55.9 ± 10.6, women predominated: 94 (74.6 %). Thirty-nine (30.9 %) adenomatous polyps were found; 27 (69.2 %) were sessile and 12 (30.7 %) pedunculated; in 26 (66.7 %) the size was less than 10 mm. The majority, 37 (94.8 %), were of the tubular type. Diversity was observed as to the location of the lesions, with no predominance in any anatomical segment. Conclusions : Precursor lesions of colorectal cancer, such as adenomatous polyps, are common in asymptomatic individuals with first-degree relatives who have had this malignancy.

Caracterización clínica y epidemiológica de los pacientes con cáncer de colon / Clinical and epidemiological characterization of patients with colon cancer

INTRODUCCIÓN. El cáncer de colon es una neoplasia del tubo digestivo considerada una de las más frecuentes en ambos sexos y que predomina en adultos mayores. OBJETIVO. Describir las características clínicas y epidemiológicas de los pacientes con cáncer de colon. MATERIALES Y MÉTODOS. Estudio observacional, descriptivo, retrospectivo. Población de 1 601 y muestra de 210 datos de Historias Clínicas Electrónicas de pacientes diagnosticados con cáncer de colon, atendidos por la Unidad de Oncología del Hospital de Especialidades Carlos Andrade Marín de la ciudad de Quito en el periodo enero de 2016 a diciembre de 2019. Criterios de inclusión: diagnóstico confirmado de Cáncer de Colon, edad igual o mayor a 18 años, y disponer de todos los datos clínicos requeridos en el estudio. Se utilizó el método de muestreo probabilístico con lo que se estimó una proporción para el estudio con un intervalo de confianza del 95%, un margen de error del 5% y una frecuencia esperada del 3%, de donde se obtuvo una muestra ajustada al 10% de pérdidas. El procesamiento de datos se realizó en los programas Microsoft Excel versión 16 y el Statistical Package for Social Sciences versión 24. RESULTADOS. La mayor presentación fue en adultos mayores de 50 años, con una relación 1:1 en cuanto a sexo, y en la procedencia, se ubicó mayoritariamente en la población de la región Sierra; las personas con una actividad económica de tipo profesional fueron las más afectadas; en lo que se refiere a los antecedentes se encontró mayor relación en los personales y dentro de estos los pólipos; no hubo relación con los antecedentes quirúrgicos ni familiares. El síntoma de debut más prevalente fue el dolor abdominal; la mayoría fueron sometidos a colonoscopia; predominó la lateralidad derecha y el tipo histológico principalmente identificado fue el adenocarcinoma. CONCLUSIÓN. No se observó relación estadísticamente significante entre estadíos, evolución y tratamientos instaurados, lo que pudo estar influenciado por el muestreo al azar; y que el 53,30% de los pacientes aún se encuentra en controles.

INTRODUCTION. Colon cancer is a neoplasm of the digestive tract considered one of the most frequent in both sexes and predominantly in older adults. OBJECTIVE. To describe the clinical and epidemiological characteristics of patients with colon cancer. MATERIALS AND METHODS. Observational, descriptive, retrospective study. Population of 1 601 and sample of 210 data from Electronic Medical Records of patients diagnosed with colon cancer, attended by the Oncology Unit of the Hospital de Especialidades Carlos Andrade Marín of the city of Quito in the period January 2016 to December 2019. Inclusion criteria: confirmed diagnosis of Colon Cancer, age equal to or older than 18 years, and having all the clinical data required in the study. The probability sampling method was used with which a proportion was estimated for the study with a confidence interval of 95%, a margin of error of 5% and an expected frequency of 3%, from which a 10% loss adjusted sample was obtained. Data processing was performed in Microsoft Excel version 16 and Statistical Package for Social Sciences version 24. The greatest presentation was in adults over 50 years of age, with a 1:1 ratio in terms of sex, and in terms of origin, it was mainly located in the population of the Sierra region; people with a professional economic activity were the most affected; in terms of history, a greater relationship was found in personal history and within these, polyps; there was no relationship with surgical or family history. The most prevalent debut symptom was abdominal pain; the majority underwent colonoscopy; right laterality predominated and the histological type mainly identified was adestatistically significant relationship was observed between stages, evolution and treatment, which could be influenced by random sampling; and that 53,30% of the patients are still in controls.

Presentation and Follow-up of Familial Adenomatous Polyposis: Differences Between APC and MUTYH Mutations. / Presentación y seguimiento de poliposis adenomatosa familiar (PAF): diferencias entre las mutaciones APC y MUTYH.

BACKGROUND: Familial adenomatous polyposis is described as one of the common two types of genetic disorders: APC and MUTYH gene associated polyposis syndrome and the clinical differences between the two can sometimes be unclear. MATERIALS AND METHODS: A retrospective analysis and comparison was made of clinical, surgical, and histological criteria, mutation types and the long-term results of patients who underwent genetic analysis which resulted in the diagnosis of Familial Adenomatous Polyposis between 1984 and 2018. RESULTS: Of the total 71 patients included in the study, 14 were identified with the MUTYH gene, and 57 with the APC mutation. In patients with the APC mutation, 63% had duodenal adenoma, 61% gastric polyp and 54% had desmoid tumor. Of the patients with the MUTYH mutation, 21% had duodenal adenoma and 21% were diagnosed with gastric polyps. In 21% of the patients with APC mutation, the polyp count was <100, and 64% of those with the MUTYH mutation had >100 polyps in the colon No statistical difference was determined between the groups in respect of the proportion of patients with >100 polyps. CONCLUSION: The pre-operative genetic testing of patients with polyposis coli will be useful in determining the future clinical outcome and helpful in guiding an informed decision as to whether to apply surgical treatment. It is useful to determine the colonic and extra-colonic involvement of genetic mutation diseases in patients with Familial adenomatous polyposis.

Poliposis adenomatosa familiar y prevención del cáncer colorrectal: reporte de un caso / Familial adenomatous polyposis and colorectal cancer prevention: A case report

Resumen La poliposis adenomatosa familiar (PAF) es una enfermedad hereditaria caracterizada por el crecimiento de múltiples adenomas epiteliales de distribución colorrectal, de patrón autosómico dominante causado por el defecto del gen APC. La degeneración de cáncer colorrectal en estos pacientes se considera inevitable en caso de no recibir el manejo terapéutico adecuado. Se presenta el caso de una paciente femenina de 25 años, quien acudió a consulta luego de presentar una modificación del patrón evacuatorio y dolor abdominal, sin antecedentes familiares asociados, por lo que se correlacionó con paraclínicos y se diagnosticó PAF, con la posterior implementación del manejo terapéutico. Se decidió hacer una revisión bibliográfica y actualización del tema resaltando los aspectos clínicos de reconocimiento de la enfermedad, así como las conductas a tomar en consideración para la prevención del cáncer en pacientes con PAF.

Abstract Familial adenomatous polyposis (FAP) is a hereditary disease characterized by the growth of multiple colorectal epithelial adenomas. It is an autosomal dominant disorder caused by an APC gene defect. Degeneration to colorectal cancer is considered unavoidable in these patients if they do not receive adequate therapeutic management. We present the case of a 25-year-old female patient consulted after a change in her evacuation pattern and abdominal pain. She had no relevant family history associated but based on results of paraclinical tests diagnosis of FAP was made for which therapeutic management was implemented. This is a case report with a literature review and update of the topic highlighting clinical issues related to recognition of the disease and issues that should be taken into consideration for the prevention of cancer in patients with FAP.

Comportamiento de los pólipos de colon y recto en pacientes sometidos a colonoscopia terapéutica / Behavior of colon and rectum polyps in patients undergoing therapeutic colonoscopy

RESUMEN Fundamento: el intestino grueso se extiende desde el ciego hasta el orificio del ano. La mucosa contiene en su espesor, numerosas glándulas tubulares, en ella se pueden encontrar lesiones, son los pólipos las más frecuentes. Objetivo: determinar el comportamiento de los pólipos de colon y recto en pacientes sometidos a colonoscopia terapéutica. Métodos: se realizó un estudio observacional descriptivo de corte transversal. El universo fue 179 pacientes, con diagnóstico al menos de un pólipo. La muestra no probabilística quedó formada por los 166 pacientes que cumplieron, criterios de inclusión y exclusión, de ellos se analizaron 207 pólipos. La información se extrajo de las historias clínicas, registro de procederes e informes de estudio histológico. Resultados: la edad que predominó fue entre 60-69 años, prevaleció el sexo femenino. Imperó el sangramiento digestivo bajo macroscópico como manifestación clínica . Se acentuaron las localizaciones en el hemicolon izquierdo. Las lesiones de tamaño mediano sobresalieron y las lesiones sésiles fueron las que se destacaron. Los pólipos adenomatosos constituyeron los de mayor observación. Conclusiones: predominaron el grupo de edades entre 60-69 años, del sexo femenino. El sangramiento digestivo bajo macroscópico fue la manifestación clínica más observada. Los pólipos localizados en colon sigmoides, tamaño mediano, sésiles y adenomatosos resultaron los más frecuentes.

ABSTRACT Background: the large intestine extends from the cecum to the orifice of the anus. The mucosa contains in its thickness, numerous tubular glands, in it you can find lesions, polyps are the most frequent. Objective: to determine the behavior of colon and rectum polyps in patients undergoing therapeutic colonoscopy. Methods: a cross-sectional descriptive observational study was carried out. The universe was 179 patients, with at least one polyp diagnosed. The non-probabilistic sample was formed by the 166 patients who met, inclusion and exclusion criteria, of which 207 polyps were analyzed. The information was extracted from the medical charts, record of procedures and histological study reports. Results: the age that predominated was between 60-69 years, the female sex prevailed. The digestive bleeding under macroscopic was the most frequent clinical manifestation. The locations in the left semicolon were accentuated. The lesions of medium size stood out. The sessile lesions were those that highlighted. The adenomatous polyps constituted the most observed ones. Conclusions: the group of ages between 60-69 years, of the female sex, predominated. The digestive bleeding under macroscopic was the most observed clinical manifestation. The polyps located in sigmoid colon, medium size, sessile and adenomatous were the most frequent.

Hepatitis autoinmune y cáncer de colon: una asociación inusual. Caso clínico y revisión de la literatura / A case of an unusual association of autoimmune hepatitis and colon cancer: report and literature review

Resumen Introducción: la hepatitis autoinmune idiopática (HAI) es una enfermedad crónica que predomina en mujeres, con episodios de actividad y remisión, favoreciendo la fibrosis hepática. El 40% de los pacientes presenta historia familiar de enfermedades autoinmunes. Al parecer, es mediada por la interacción antígeno-anticuerpo; sin embargo, su causa es desconocida. Se conoce la asociación frecuente de HAI con cáncer hepatobiliar; menos frecuente con linfomas, cáncer de piel y cáncer de colon; y casi inexistente con síndromes hereditarios de cáncer de colon. Este caso debutó con HAI y sangrado rectal causado por poliposis adenomatosa familiar (PAF) y adenocarcinoma de colon sigmoide. Caso clínico: mujer de 51 años con HAI de 1 año de evolución manejada con prednisolona y azatioprina. Se realizó una colonoscopia total por anemia en la que se encontraron múltiples pólipos entre 5 y 10 mm y 1 de 30 mm sésil, ulcerado, en colon sigmoide. Se realizó una polipectomía endoscópica múltiple que reportó un adenoma tubulovelloso con displasia de alto y bajo grado en varios pólipos y un adenocarcinoma de bajo grado en el pólipo del sigmoide. Los estudios de extensión fueron negativos para metástasis. Se realizó una repleción nutricional prequirúrgica, luego una colectomía subtotal y una procto-ileoanastomosis con ileostomía de protección. La patología de pieza quirúrgica mostró un adenocarcinoma de colon de bajo grado y adenomas tubulares y tubulovellosos con displasias de alto y bajo grado. Discusión y conclusiones: La asociación de HAI con PAF y cáncer colorrectal (CC) es infrecuente. Es conocida la correlación de HAI con cáncer hepatobiliar (asociado con cirrosis), linfomas, cáncer de piel y otros desórdenes autoinmunes. El pronóstico es malo y no puede establecerse una correlación clara con moduladores inmunes.

Abstract Introduction: Idiopathic autoimmune hepatitis (IAH) is a chronic disease that occurs predominately in women, has episodic activity and remission, and favors hepatic fibrosis. Forty percent of patients have family histories of autoimmune diseases. It is apparently mediated by antigen-antibody interaction, but its causes are unknown. IAH is frequently associated with hepatobiliary cancer, less frequently with lymphomas, skin cancer and colon cancer and very rarely with hereditary colon cancer syndrome. This case debuted IAH and rectal bleeding caused by familial adenomatous polyposis (FAP) and adenocarcinoma of the sigmoid colon. Clinical case: The patient was a 51-year-old woman who had had IAH for one year which had been managed with prednisolone and azathioprine. A total colonoscopy, performed because of anemia, found multiple polyps that measured 5 and 10 mm and one ulcerated 30 mm sessile polyp in the sigmoid colon. A multiple endoscopic polypectomy revealed a tubulovillous adenoma with high and low grade dysplasia in several polyps and a low grade adenocarcinoma in the sigmoid polyp. Tests and examinations for metastasis were negative. Following presurgical nutritional repletion, a subtotal colectomy was performed and an ileal pouch-anal anastomosis with protective ileostomy was created. The pathology of the surgical specimen showed low grade adenocarcinoma of the colon and tubular and tubulovillous adenomas with high and low grade dysplasia. Discussion and conclusions: Association of IAH with familial adenomatous polyposis (FAP) and colorectal cancer (CC) occurs infrequently although associations of IAH with hepatobiliary cancer associated with cirrhosis, lymphomas, skin cancer and other autoimmune disorders are well-known. The prognosis is bad and no clear correlation with immune modulators can be established.

Poliposis adenomatosa familiar: a propósito de 2 casos / Familiar Adenomatous Polyposis: Report of 2 Cases

La poliposis adenomatosa familiar (PAF) se basa en una mutación autosómica dominante de pérdida de la función en el gen supresor tumoral APC. El síndrome de Gardner es un tipo de PAF y está caracterizado por múltiples pólipos adenomatosos colónicos además de anormalidades extracolónicas como tumores desmoides, osteomas, lipomas, anormalidades dentales, quistes dermoides y adenomas duodenales. Este reporte tiene como propósito presentar dos casos referentes a PAF. El primer caso, trata de un paciente con osteomas e historia de hematoquezia, con diagnóstico de sindrome de Gardner posterior a la colonoscopia. El segundo caso es un paciente con historia familiar de cáncer de colon, que al examen colonoscópico se le diagnostica PAF con adenocarcinoma tubular bien diferenciado. Se decide reportar los casos debido a que son los primeros reportes en el Perú sobre esta entidad

Familial Adenomatous polyposis (FAP) it is based on an autosomal dominant mutation which results in loss of function of the APC tumor suppressor gene. On the other hand, Gardner syndrome is a type of FAP and is characterized for multiple colonic adenomatous polyps and extracolonic abnormalities as desmoid tumors, osteomas, lipomas, dental abnormalities, dermoid cysts and duodenal adenomas. This report aims to present two patients with FAP: The first one is a patient who presented with osteomas and hematochezia, being diagnosed with Gardner Syndrome after the colonoscopy. The second patient has a family history of colon cancer, who is diagnosed with FAP with tubular adenocarcinoma. We decide to report both cases due to the absence of previous reports in Peru

Reservorio Ileal: Complicaciones y resultados funcionales, Estudio Observacional / Ileal Reservoir with Anal-reservoir Anastomosis: Complications and functional results, Observational Study

Introducción: El reservorio ilealcon anastomosis reservorio-anal (RIARA) es un procedimiento de reconstrucción del tránsito intestinal que se realiza luego de una proctectomía y trata de simular la funcionalidad de la ampolla rectal para disminuir los episodios de incontinencia. El objetivo del presente estudio fue describir las complicaciones perioperatorias del procedimiento y los resultados funcionales a un año. Métodos:El presente estudio observacional es una revisión de expedientes de pacientes a quienes se realizó RIARA entre julio del 2014 y septiembre del 2016, en el servicio de cirugía de la Clínica Guayaquil. La muestra fue no probabilística por conveniencia. Se incluyeron todos los pacientes a los que se realizó una coloproctectomía. Se midieron las complicaciones tempranas mediante la escala de Clavien-Dindo. Los resultados funcionales al año de la cirugía se valoraron con el test de Öresland. Se utilizó estadística descriptiva. Resultados: Se incluyeron 45 casos (35 hombres y 10 mujeres, media de edad 55 años), que se realizaron coloproctectomía: 8 casos por Poliposis Adenomatosa Familiar (PAF), 3 por Colitis Ulcerosa (CU) y 34 por cáncer colorrectal. Las complicaciones se presentaron en 18 pacientes (40 %): 12 casos (26.7 %) con trastornos hidroelectrolíticos, 3 colecciones pélvicas (6.7 %), 1 que requirió reintervención y 1 con drenaje prolongado. Complicaciones de Nivel II 83.33 %. La media de evacuaciones fue de 5 en 24 horas a los tres primeros meses. Puntaje Öresland de 0 a 3 puntos, en 34 pacientes (80 %) al año. Conclusiones: En la presente serie se muestran buenos resultados funcionales al año del procedimiento de RIARA, morbilidad de nivel III aceptable y sin mortalidad en este reporte. Es necesario el seguimiento a largo plazo para identificar complicaciones tardías.

Introduction: The ilealreservoir with anal-reservoir anastomosis (IRARA) is a procedure of intestinal transit reconstruction that is performed after a proctectomy and tries to simulate the functionality of the rectal ampulla to reduce episodes of incontinence. The aim of the present study was to describe the perioperative complications of the procedure and the functional results at 1 year. Methods:The present observational study is a review of IRARA patient records, between July 2014 and September 2016, in the Surgery service of the "Clínica-Guayaquil". The sample was non-probabilistic for convenience. All patients underwent a coloproctectomy. Early complications were measured using the Clavien-Dindo scale. Functional results one year after surgery were assessed with the Öresland test. Descriptive statistics is used. Results: 45 cases were included (35 men and 10 women), average age was 55 years, who underwent coloproctectomy, 8 cases for Familial Adenomatose Polyposis, 3 for Ulcerative Colitis and 34 for colorectal cancer. Complications occurred in 18 patients (40%), 12 cases (26.7%) with Hydro-electrolyte disorders, 3 pelvic collections 1 requiring reoperation and 1 with prolonged drainage. Complications of Level II 83.33%. The average of evacuations was 5 in 24 hours in the first three months. Öresland score from 0 to 3 points, in 34 patients (80%) per year. Conclusions: The results of this series show good functional results at one year of the IRARA procedure, morbidity of level III acceptable and without mortality in this report. Long-term follow-up is necessary to identify late complications

[Ectopic craniopharyngioma and Gardner's syndrome: Case report and literature review]. / Craneofaringioma ectópico y síndrome de Gardner: a propósito de un caso y revisión de la literatura.

INTRODUCTION: Craniopharyngioma accounts for around 3% of all primary tumours of the central nervous system. It is usually located in the suprasellar region, although it may also have an ectopic location. CASE REPORT: The case is presented on 29 year-old male who underwent surgery for a jaw osteoma when he was 19 years old and was subsequently diagnosed with Gardner's syndrome. He was admitted in our Hospital with right facial paresis and diplopia of one day onset. The examination showed mild right VII and VI cranial nerves paresis. Magnetic resonance imaging of the brain demonstrated a rounded solid and cystic lesion with well-defined contours of about 2cm in diameter filling the fourth ventricle. The patient underwent a posterior fossa craniotomy using a telovelar approach with complete removal of the tumour implanted at roof level of the fourth ventricle. The final histology of the tumour was reported as adamantinomatous craniopharyngioma. CONCLUSION: Craniopharyngioma may appear in another location other than the suprasellar region. Its atypical location may be related to Gardner syndrome by still unknown pathogenic mechanisms.

Se justifica el seguimiento después de una colectomía en pacientes con poliposis adenomatosa familiar / The follow up after colectomy in patients with familial adenomatous polyposis is justified

phenotypic expression is the presence of múltiple colorectal adenomatous polyps (more than 100), with high probability developing colorrectal cancer (CRC) before the fifth decade of life. Prophylactic surgery (total colectomy or restorative proctocolectomy) reduces the risk of developing CRC. However, the risk of developing tumors in other organs remains present. Objetive: Analyze the frequency and type of tumors associated with classic familial adenomatous polyposis syndrome (FAPc) patients undergoing prophylactic colectomy. Material and Methods: Cohort study. From the registry of hereditary colorrectal cancer (CRC) at our institution, we identified patients with FAPc who underwent total colectomy with ileorrectal anastomosis (TC-IRA) or restorative proctocolectomy (RTPC), from 1999 to 2014. In the follow-up we analyzed related tumors and mortality. Results: 27 patients, of whom 18 (66.7%) underwent TC-IRA and 9 (33.3%) underwent RTPC. At the time of surgery, 4 patients had CRC (15%) and 5 had extracolonic tumors (osteomas). In a mean follow-up of 49, 4 months (i: 2 y 178) the following lesions were diagnosed: digestive tract adenomas in 17 (63%) patients, of these 2 required a proctectomy and 3 resection of duodenal adenomas. Eight patients developed desmoid tumors (30%), and 3 of them underwent surgery. One patient had an extradigestive tumor (thyroid cancer) and only 8/27 (29.6%) did not develop other tumors. One patient died due to progression of his CCR. Discussion: In this series it is confirmed that most patients will develop neoplasms FAPc after colectomy. conclusion: The removal of the colon and/or rectum is able to prevent the development of CRC. However, two thirds of the patients develop other tumors in which systematic surveillance allowed early detection and treatment.

Objetivo: Analizar la frecuencia y tipo de tumores asociados en pacientes con poliposis adenomatosa familiar clásica (PAFc) sometidos a una colectomía profiláctica. Materiales y Métodos: Estudio de cohorte. Desde el registro de cáncer colorrectal (CCR) hereditario, se identificaron las familias con PAFc, y de estas a los pacientes que se les practicó una colectomía total con anastomosis íleorrectal (CT-AIR) o proctocolec-tomía restauradora (PCTR), desde 1999 al 2014. En el seguimiento se analizaron los tumores asociados y su mortalidad. Resultados: Se identificaron 27 pacientes, de los cuales 18 (66,7%) fueron sometidos a CT-AIR y 9 (33,3%) a PCTR. Al momento de la cirugía, 4 pacientes presentaban CCR (15%) y 5 tenían tumores extracolónicos (osteomas). En un seguimiento promedio de 49,4 meses (i: 2 y 178) se diagnosticaron: adenomas del tracto digestivo en 17 (63%) pacientes, de éstos 2 requirieron una proctectomía y 3 resecciones de adenomas duodenales. Ocho pacientes desarrollaron tumores desmoides (30%), y 3 de ellos fueron sometidos a una cirugía. Un paciente presentó un tumor extradigestivo (cáncer de tiroides) y sólo 8/27 (29,6%) pacientes no desarrollaron otros tumores. Un paciente falleció por progresión de su CCR. Discusión: En esta serie se confirma que la mayoría de los pacientes con PAFc seguirán desarrollando neoplasias después de su colectomía. conclusiones: La extirpación del colon y/o recto permitió evitar el desarrollo de CCR. Sin embargo, dos tercios de los pacientes presentaron otros tumores en quienes su seguimiento permitió una detección y tratamiento temprano.

[New advances in hereditary colorectal cancer]. / Novedades en el cáncer colorrectal hereditario.

Colorectal cancer is the most frequent malignancy in both sexes in Spain. Between 20% and 25% of affected individuals have a family history of the disease, and 5% to 6% have a germ mutation, i.e. the disease develops in the context of a hereditary syndrome. The importance of identifying patients with hereditary syndromes predisposing them to colorectal cancer lies in the possibility of applying preventive measures, screening, and more appropriate management of both patients and their families. The present article outlines the most important studies presented at the congress of the American Gastroenterological Association.

[Hereditary and familial colorectal cancer]. / Cáncer colorrectal familiar y hereditario.

Up to 5% of all colorectal cancer cases are caused by a known hereditary syndrome. These hereditary types often need a higher degree of clinical suspicion to be diagnosed and require specific and specialized management. In addition, diagnosing hereditary colorectal cancer has significant consequences not only for the patient, for whom there are effective preventative measures, but also for their families, who could be carriers of the condition. The most significant advances in the field of colorectal cancer have come from the diagnosis and characterization of these syndromes.

Poliposis adenomatosa familiar en niños cubanos / Familial adenomatous polyposis found in Cuban children

INTRODUCCIÓN: la poliposis adenomatosa familiar es una enfermedad autosómica dominante con evolución al cáncer colorrectal. OBJETIVO: caracterizar a los niños cubanos con poliposis adenomatosa familiar. MÉTODOS: se realizó un estudio, descriptivo, prospectivo de serie de casos, atendidos en el Instituto de Gastroenterología de Cuba, durante el periodo comprendido entre febrero de 2011 y mayo de 2013. Se incluyeron 15 niños, en los cuales se había establecido el diagnóstico de poliposis por colonoscopia, con confirmación histológica de adenomas. A todos se les realizó endoscopia del tracto digestivo superior, ultrasonografía de abdomen superior, ortopantomografía, survey óseo, tránsito intestinal, consulta de oftalmología y neurología. RESULTADOS: el 60,0 % fue del sexo masculino y el 60,0 % de color de piel blanca. La pesquisa de los pacientes asintomáticos y el sangrado rectal fueron los motivos de consulta más frecuentes (40,0 % respectivamente). Predominó la forma florida de la enfermedad, y la displasia de bajo grado se observó en el 73,3 %. El 26,7 % tuvo pólipos en el estómago, y fue la localización más observada. La manifestación extraintestinal más frecuente fue la hipertrofia congénita del epitelio retiniano (73,3 %), seguida por los dientes supernumerarios y los quistes dentígenos. Al analizarlo por grupos de edades, entre 10 y 18 años, al 40,0 % ya se les había realizado colectomía. CONCLUSIONES: la mayoría de los pacientes estudiados tenían antecedentes familiares de la enfermedad, la pesquisa familiar y el sangrado rectal fueron los principales motivos de estudio. Todos presentaron la forma florida, y en su gran mayoría, displasia de bajo grado en el momento del diagnóstico. Los pólipos extracolónicos se presentaron con mayor frecuencia en el estómago, y la manifestación extraintestinal más frecuente fue la hipertrofia congénita del epitelio retiniano. La mayoría de los pacientes no se habían realizado colectomía en el momento del estudio.

INTRODUCTION: familial adenomatous polyposis is a dominant autosomal disease that evolves into colorectal cancer. OBJECTIVE: to characterize the Cuban children with familial adenomatous polyposis. METHODS: a prospective, descriptive case series study, who were seen at the Institute of Gastroenterology from February 2011 through May 2013. Fifteen children were diagnosed as adenomatous polyposis patients, based on colonoscopy and histological confirmation, respectively. All of them were performed upper digestive tract endoscopy, upper stomach ultrasonography, ortopantomography, bone survey, intestinal transit test, and ophthalmological and neurological exams. RESULTS: sixty percent were males and 60 % were Caucasians. Screening of asymptomatic patients and the rectal bleeding were the main causes of medical consultation (40 %, respectively). Full manifested disease prevailed and low-grade dysplasia was observed in 73.3 % of cases. In the study group, 26.7 % presented with polyps in their stomach, being this location the most observed one. The most common extraintestinal manifestation was congenital hypertrophy of the retinal epithelium (73.3 %) followed by supernumerary teeth and dentigerous cysts. On analyzing the age groups, 40 % of the 10 to 18 years old children had already undergone colectomy. CONCLUSIONS: Most of the studied patients had family histories of the disease; the family screening and the rectal bleeding were the main reasons for the study. All of them presented with the fully manifested form of the disease and the vast majority had low grade dysplasia at the time of diagnosis. The polyps located out of the colon were more frequently found in the stomach and the most common extraintesinal manifestation was congenital hypertrophy of the retinal epithelium. The majority of the patients had not undergone colectomy at the time of study.

Poliposis adenomatosa familiar en niños cubanos / Familial adenomatous polyposis found in Cuban children

Introducción: la poliposis adenomatosa familiar es una enfermedad autosómica dominante con evolución al cáncer colorrectal. Objetivo: caracterizar a los niños cubanos con poliposis adenomatosa familiar. Métodos: se realizó un estudio, descriptivo, prospectivo de serie de casos, atendidos en el Instituto de Gastroenterología de Cuba, durante el periodo comprendido entre febrero de 2011 y mayo de 2013. Se incluyeron 15 niños, en los cuales se había establecido el diagnóstico de poliposis por colonoscopia, con confirmación histológica de adenomas. A todos se les realizó endoscopia del tracto digestivo superior, ultrasonografía de abdomen superior, ortopantomografía, survey óseo, tránsito intestinal, consulta de oftalmología y neurología. Resultados: el 60,0 por ciento fue del sexo masculino y el 60,0 por ciento de color de piel blanca...

Introduction: familial adenomatous polyposis is a dominant autosomal disease that evolves into colorectal cancer. Objective: to characterize the Cuban children with familial adenomatous polyposis. Methods: a prospective, descriptive case series study, who were seen at the Institute of Gastroenterology from February 2011 through May 2013. Fifteen children were diagnosed as adenomatous polyposis patients, based on colonoscopy and histological confirmation, respectively. All of them were performed upper digestive tract endoscopy, upper stomach ultrasonography, ortopantomography, bone survey, intestinal transit test, and ophthalmological and neurological exams. Results: sixty percent were males and 60 percent were Caucasians. Screening of asymptomatic patients and the rectal bleeding were the main causes of medical consultation (40 percent, respectively). Full manifested disease prevailed and low-grade dysplasia was observed in 73.3 percent of cases. In the study group, 26.7 percent presented with polyps in their stomach, being this location the most observed one. The most common extraintestinal manifestation was congenital hypertrophy of the retinal epithelium (73.3 percent) followed by supernumerary teeth and dentigerous cysts. On analyzing the age groups, 40 percent of the 10 to 18 years old children had already undergone colectomy. Conclusions: Most of the studied patients had family histories of the disease; the family screening and the rectal bleeding were the main reasons for the study. All of them presented with the fully manifested form of the disease and the vast majority had low grade dysplasia at the time of diagnosis. The polyps located out of the colon were more frequently found in the stomach and the most common extraintesinal manifestation was congenital hypertrophy of the retinal epithelium. The majority of the patients had not undergone colectomy at the time of study(AU)

[Genetics of colorectal cancer]. / Genética del cáncer colorrectal.

Up to 5% of all cases of colorectal cancer (CRC) are due to a known hereditary syndrome. These hereditary forms often require a high degree of suspicion for their diagnosis and specific and specialized management. Moreover, a diagnosis of hereditary CRC has important consequences, not only for patients-for whom highly effective preventive measures are available-, but also for their relatives, who may be carriers of the same condition. The most significant advances in the field of hereditary CRC have been produced in the diagnosis and characterization of these syndromes and in the discovery of new causative genes.

[Intraabdominal desmoid tumors in familial adenomatous polyposis]. / Tumores desmoides intraabdominales en la poliposis adenomatosa familiar.

Desmoid tumors are currently the main cause of morbidity and mortality in patients with familial adenomatous polyposis. More than 10% of these patients will develop these tumors during their lifetime and more than a third will suffer their consequences. The main risk factors for their development are female sex and abdominal surgery. The most frequent localization is intraabdominal. The therapeutic approach to these tumors has changed, and the surgical treatment of choice is currently the subject of debate. If a watch and wait approach is adopted, more than 50% of tumors will prove to be indolent. Therefore, the therapeutic strategy should be based on clinical presentation and should be decided by a multidisciplinary team working in a center with experience of these tumors. The present article proposes a prognostic classification to guide the therapeutic approach.

Poliposis adenomatosa familiar: presentación de un caso y revisión de la literatura / Familial adenomatous polyposis: case report and literature review

Colorectal cancer (CRC) is a genetic and epigenetic disease. Approximately one third of the CRC has an hereditary component. Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition that has its origins in the line of APC gene mutation, which occurs with a frequency of approximately 1:10,000 live births. We report a case of a patient of 25 years with FAP. This review provides current knowledge on the broad clinical spectrum of this disease, also referring to the optimal method of diagnosis, differential diagnosis and management.

El cáncer colorrectal (CCR) es una enfermedad genética y epigenética. Aproximadamente un tercio del CCR tiene un componente hereditario. La poliposis adenomatosa familiar (PAF) es una condición hereditaria autosómica dominante que tiene su origen en la línea de mutación del gen APC, el cual ocurre con una frecuencia aproximada de 1:10.000 nacidos vivos. Se reporta el caso de una paciente de 25 años con PAF. La presente revisión proporciona los conocimientos actuales sobre el amplio espectro clínico de esta enfermedad, refiriéndose también al método óptimo de diagnóstico, diagnóstico diferencial y su manejo.

Adenocarcinoma primario de ileostomía en pacientes con poliposis adenomatosa familiar: [revisión] / Ileostomy primary adenocarcinoma in patients with familial adenomatous polyposis: [review]

El adenocarcinoma primario desarrollado sobre una ileostomía en pacientes con Poliposis adenomatosa familíar (PAF) coloproctectomizados es altamente infrecuente. Su aparición ha sido descripta en pacientes con ileostomía definitiva por PAF, rectocolitis ulcerosa y enfermedad de Crohn, aumentando su incidencia cuando la ostomía lleva más de 20 años. Hasta la fecha se han publicado 52 casos de carcinomas sobre la ostomía, 12 de ellos en PAF, sin el presente reporte. Se informan en el siguiente trabajo dos casos de adenocarcinoma primario de ileon, desarrollados sobre una ileostomía, pertenecientes al Registro de Poliposis del Hospital de Gastroenterología Dr. Carlos Bonorino Udaondo. Se efectúa una revisión bibliográfica, se informa sobre el seguimiento y la resolución de esta entidad poco frecuente.

Primary adenocarcinoma arising from the ileostomy site in patients with Familial Adenomatous Polyposis (FAP) is unfrequent. It has been described in patients with definitive ileostomy due to FAP, ulcerative colitis and Crohn's Disease. Its incidence increases with the time of follow-up (>20 years). Only 52 cases of this type and location of adenocarcinoma have been reported, 12 of them in patients with FAP. This paper reports 2 cases of primary ileal adenocarcinoma arising from the ileostomy site. Patients belong to the Polyposis Database of the Hospital de Gastroenterologia Dr. Carlos Bonorino Udaondo. Assessment, treatment and follow-up of these two patients is described, as well as a review of the literature of this unfrequent entity.