[Phenotyping and genotyping in patients with inflammatory bowel disease in a reference center in Colombia]. / Fenotipificación y genotipificación en pacientes con enfermedad inflamatoria intestinal en un centro de referencia de Colombia.

INTRODUCTION: Attempts have been made to identify the genetic factors related to susceptibility to inflammatory bowel disease (IBD), and the current conclusions are in favor of a complex pathology model, without a clear hereditary pattern. OBJECTIVE: To perform phenotypic and genotypic characterization of patients with IBD in Colombian population and to describe its possible association with predisposition. MATERIALS AND METHODS: case series, 16 patients with IBD according to clinical and pathological criteria, onset of gastrointestinal symptoms after 18 years of age. All had pre-test genetic counseling and family trees of at least three generations were made. Also, genotyping, using a multi-gene panel that included genes related to IBD and some autoimmune disorders. Finally, a genomic analysis of variants was performed. RESULTS: 9 women and 7 men, with mean age of diagnosis of IBD of 35 years, and gastrointestinal symptoms appearance of 32 years. 11/16 (68.75%) required biological therapy. 10/16 (62.5%) were refractory to standard therapy. 3/16 (18.75%) had positive family history of IBD. 100% cases presented at least one single nucleotide polymorphism related to IBD risk in more than one gene. The genes most related to ulcerative colitis (UC) were CD48, CD6, and TYK2 for UC, and CD6 and ITGAM for Crohn's disease. The most frequent gene was CD6. It was found presence of up to 5 genes in 3/16 (18.75%), 4 in 3/16 (18.75%), and three in 5/16 (31.25%). CONCLUSION: In IBD there is the presence of genetic variants with associated predisposition, but without confirmed pathogenicity, and whose sum seems to contribute to its pathophysiology.

Fenotipificación y genotipificación en pacientes con enfermedad inflamatoria intestinal en un centro de referencia de Colombia / Phenotyping and genotyping in patients with inflammatory bowel disease in a reference center in Colombia

RESUMEN Introducción: Se ha tratado de identificar los factores genéticos relacionados con susceptibilidad para enfermedad inflamatoria intestinal (EII), y los hallazgos actuales se inclinan por un modelo de patología complejo, sin un patrón hereditario claro. Objetivo: Realizar caracterización fenotípica y genotípica de pacientes con EII en población colombiana y describir su posible asociación con predisposición. Materiales y métodos: Serie de casos, 16 pacientes con EII por criterios clínicos y anatomopatológicos, inicio de síntomas gastrointestinales después de los 18 años. Todos tuvieron asesoramiento genético pre-test y se realizaron árboles genealógicos de mínimo tres generaciones. También, genotipificación, por medio de un panel de genes múltiples que incluía genes relacionados con EII y algunos trastornos autoinmunitarios. Finalmente, se realizó análisis genómico de variantes. Resultados: 9 mujeres y 7 hombres, con edad media de diagnóstico de EII 35 años, y 32 años para aparición de síntomas gastrointestinales. 11/16(68,75%) requirieron terapia biológica. 10/16 (62,5%) presentaron refractariedad a terapia estándar. 3/16 (18,75%) tenían antecedentes familiares positivos de EII. 100% casos presentaron al menos un single nucleotide polymorphism relacionado con riesgo de EII en más de un gen. Los genes más relacionados con colitis ulcerosa (CU), fueron CD48, CD6, y TYK2 para CU, y CD6 e ITGAM para la enfermedad de Crohn. El gen más frecuente fue CD6. Se observó en 3/16 (18,75%) presencia de hasta 5 genes, 4 en 3/16 (18,75%), y tres en 5/16 (31,25%). Conclusión: En EII hay presencia de variantes genéticas con predisposición asociada, pero sin patogenicidad confirmada, y cuya sumatoria parece contribuir en su fisiopatología.

ABSTRACT Introduction: Attempts have been made to identify the genetic factors related to susceptibility to inflammatory bowel disease (IBD), and the current conclusions are in favor of a complex pathology model, without a clear hereditary pattern. Objective: To perform phenotypic and genotypic characterization of patients with IBD in Colombian population and to describe its possible association with predisposition. Materials and methods: case series, 16 patients with IBD according to clinical and pathological criteria, onset of gastrointestinal symptoms after 18 years of age. All had pre-test genetic counseling and family trees of at least three generations were made. Also, genotyping, using a multigene panel that included genes related to IBD and some autoimmune disorders. Finally, a genomic analysis of variants was performed. Results: 9 women and 7 men, with mean age of diagnosis of IBD of 35 years, and gastrointestinal symptoms appearance of 32 years. 11/16 (68.75%) required biological therapy. 10/16 (62.5%) were refractory to standard therapy. 3/16 (18.75%) had positive family history of IBD. 100% cases presented at least one single nucleotide polymorphism related to IBD risk in more than one gene. The genes most related to ulcerative colitis (UC) were CD48, CD6, and TYK2 for UC, and CD6 and ITGAM for Crohn's disease. The most frequent gene was CD6. It was found presence of up to 5 genes in 3/16 (18.75%), 4 in 3/16 (18.75%), and three in 5/16 (31.25%). Conclusion: In IBD there is the presence of genetic variants with associated predisposition, but without confirmed pathogenicity, and whose sum seems to contribute to its pathophysiology.

Cómo realizar e interpretar una manometría anorrectal de alta resolución / How to perform and interpret high resolution anorectal manometry

Resumen La manometría anorrectal es la técnica más utilizada para evaluar la función anorrectal y así detectar las anormalidades funcionales del esfínter anal y de coordinación anorrectal. En nuestro laboratorio de fisiología realizamos aproximadamente 15 estudios de manometría anorrectal de alta resolución a la semana, por lo que consideramos que es de vital importancia realizarlo de forma adecuada y tener una correcta interpretación. Mediante este artículo deseamos compartir nuestro protocolo de realización de manometría anorrectal de alta resolución con base en la literatura más relevante.

Abstract Anorectal manometry is the most commonly used technique to evaluate anorectal functioning and coordination and detect functional abnormalities of the anal sphincter. In our physiology laboratory we perform approximately 15 high resolution anorectal manometry studies each week. We consider that proper performance and correct interpretation are vitally important. We want to share our high resolution anorectal manometry protocol based on the most relevant literature through this article.

Embarazo y enfermedad inflamatoria intestinal, una combinación especial: a propósito de un caso y revisión de la literatura / A special combination of pregnancy and inflammatory bowel disease: case report and literature review

Resumen La enfermedad inflamatoria intestinal (EII) comprende un espectro de enfermedades crónicas inmunomediadas que afectan el tracto gastrointestinal, con inicio típico durante el comienzo de la edad adulta. Esta enfermedad ha tenido un incremento de su incidencia a nivel mundial, teniendo en Norteamérica una mayor incidencia. En relación con la enfermedad de Crohn (EC) (20,2 por cada 100 000 personas/año) y en Europa una incidencia de colitis ulcerativa (CU) (24,3 por 100 000 personas/año), considerando que no es una enfermedad curable, la remisión de la misma es el principal objetivo del manejo. Muchas mujeres se encuentran afectadas por EII durante distintos estadios de su vida, incluido durante la vida reproductiva, el embarazo y la menopausia. Es por lo anterior que la forma en la que se maneje la enfermedad en mujeres en edad reproductiva puede afectar el curso de la EII. Son muy relevantes las estrategias de tratamiento y mantenimiento de la salud, para las pacientes con deseo de paridad, la remisión de la enfermedad es muy importante en el momento de la concepción y durante todo el embarazo, para asegurar adecuados resultados tanto para la madre como para el feto. Es bien conocido que la enfermedad activa durante el momento de la concepción y el embarazo se asocia con desenlaces adversos. Además, la enfermedad perianal activa es indicación de parto por cesárea, lo que resulta en un mayor riesgo de cirugía intestinal y complicaciones en el posoperatorio. A continuación, presentamos un caso.

Abstract Inflammatory bowel disease (IBD) comprises a spectrum of chronic immune-mediated diseases that affect the gastrointestinal tract. Onset typical occurs in adulthood. Its incidence is increasing everywhere, the highest incidence of Crohn's disease of 20.2 per 100,000 people/year is in North America while the incidence of ulcerative colitis is 24.3 per 100,000 people/year in Europe. Since it is not curable, the remission is the main objective of management. Many women are affected by IBD at different stages of their lives, including during reproductive life, pregnancy and menopause, so the way the disease is managed in reproductive age women can affect IBD's course. Treatment and maintenance strategies are very relevant. For patients with a desire to have children, disease remission is very important from conception through pregnancy to birth to ensure adequate results for both mother and fetus. It is well known that active disease during conception and pregnancy is associated with adverse outcomes of pregnancy. In addition, active perianal disease is an indication for cesarean delivery which entails increased risk of bowel surgery and complications in the postoperative period. We present a case of IBD during pregnancy.

[Demographics, morbidity, and mortality febrile neutropenic adult patients treated with cefepime]. / Características demográficas, morbilidad y mortalidad de los pacientes adultos con neutropenia febril tratados con cefepima.

INTRODUCTION: Cefepime efficacy for treatment of febrile neutropenia (FN) in cancer adult patients is a controversial issue. OBJECTIVE: To describe the demographic characteristics and general mortality of patients suffering from febrile neutropenia treated with cefepime in a fourth-level Latin American hospital. PATIENTS AND METHODS: A cross-sectional observational study was performed. Study settled at San Ignacio of Bogotá, Colombia. University Hospital from January 2004 to December 2008. RESULTS: A total of 333 patients were treated with cefepime, of whom 125 had suffered FN and met pre established inclusion and exclusion criteria. The general mortality was 14.4%, which was similar to the overall mortality in FN in other reports. CONCLUSIONS: Although there is still no clarity regarding the efficacy of cefepime in FN, its use has not been restricted. This study did not identify an excess risk of mortality in patients treated with cefepime.

Características demográficas, morbilidad y mortalidad de los pacientes adultos con neutropenia febril tratados con cefepima / Demographics, morbidity, and mortality febrile neutropenic adult patients treated with cefepime

Introduction: Cefepime efficacy for treatment of febrile neutropenia (FN) in cancer adult patients is a controversial issue. Objective: To describe the demographic characteristics and general mortality of patients suffering from febrile neutropenia treated with cefepime in a fourth-level Latin American hospital. Patients and Methods: A cross-sectional observational study was performed. Study settled at San Ignacio of Bogotá, Colombia. University Hospital from January 2004 to December 2008. Results: A total of 333 patients were treated with cefepime, of whom 125 had suffered FN and met pre established inclusion and exclusion criteria. The general mortality was 14.4%, which was similar to the overall mortality in FN in other reports. Conclusions: Although there is still no clarity regarding the efficacy of cefepime in FN, its use has not been restricted. This study did not identify an excess risk of mortality in patients treated with cefepime.

Introducción: La eficacia de cefepima en pacientes adultos con cáncer y neutropenia febril (NF) es objeto de controversia en las publicaciones científicas. Objetivo: Describir las características demográficas y la mortalidad general de los pacientes adultos con NF tratados con cefepima en un hospital latinoamericano de cuarto nivel. Pacientes y Métodos. Estudio observacional descriptivo, de corte transversal en el que se incluyeron todos los pacientes tratados con cefepima en el Hospital Universitario San Ignacio de Bogotá, Colombia entre enero de 2004 y diciembre de 2008. Resultados: Recibieron cefepime un total 333 pacientes, de los cuales 125 tenían diagnóstico de NF y cumplían criterios pre-establecidos de inclusión y exclusión. Como desenlace final se encontró una mortalidad de 14,4%, un porcentaje similar a la mortalidad general en NF reportada en la literatura médica. Conclusiones: Aún no hay claridad sobre la eficacia del uso de cefepima en NF; sin embargo, tampoco se ha proscrito su uso y los datos del presente estudio no encontraron un riesgo adicional de mortalidad.