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1.
Rev. cir. (Impr.) ; 76(3)jun. 2024.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1565486

ABSTRACT

Introducción: La colitis ulcerosa (CU) es una enfermedad inflamatoria intestinal que afecta el colon y el recto de etiología desconocida. Se ha planteado la apendicectomía electiva en pacientes con colitis ulcerosa refractaria como una alternativa de tratamiento. Objetivo: Comunicar el caso clínico de una paciente con CU refractaria a quien la apendicectomía electiva permitió una mejoría de su sintomatología y calidad de vida. Resultados: Se presenta el caso de una paciente de 46 años con antecedentes de hipotiroidismo y colitis ulcerosa de 2 años de evolución, con rectorragia, dolor abdominal y diarrea importante pese a la terapia biológica. Se decide apendicectomía laparoscópica electiva, logrando una mejoría sintomática de la paciente objetivada mediante la aplicación de la encuesta "Inflammatory Bowel Disease Questionnaire". El puntaje preoperatorio de la paciente fue de 60 puntos, y el postoperatorio de 176. Discusión: Se hace evidente que la colitis ulcerosa y el apéndice cecal están íntimamente relacionados. Los desafíos futuros deberían apuntarse a identificar las características clínicas que precisen qué pacientes se benefician de esta intervención.


Introduction: Ulcerative colitis (UC) is an inflammatory bowel disease that affects the colon and rectum of unknown etiology. Elective appendectomy has been proposed as a possible treatment for patients with refractory ulcerative colitis. Objective: To report the clinical case of a patient with refractory UC who showed improvement in symptomatology and quality of life after undergoing elective appendectomy. Results: We present the case of a 46-year-old patient with a 2-year history of hypothyroidism and ulcerative colitis, with rectal bleeding, abdominal pain, and significant diarrhea despite biological therapy. Elective laparoscopic appendectomy was performed, resulting in symptomatic improvement of the patient as measured by the Inflammatory Bowel Disease Questionnaire. The patient's preoperative score was 60 points, and the postoperative score was 176. Discussion: It seems evident that ulcerative colitis and the cecal appendix are intimately related. Future challenges should aim to identify clinical characteristics that determine which patients benefit from this intervention.

2.
Rev. méd. Chile ; 151(3): 313-320, mar. 2023. tab, graf
Article in Spanish | LILACS | ID: biblio-1530256

ABSTRACT

BACKGROUND: Treatment for moderate-severe active ulcerative colitis (UC) includes steroids, biologic therapy and total colectomy. Aim: To describe the features of patients with moderate to severe active UC, their hospital evolution and need for colectomy. MATERIAL AND METHODS: Non-concurrent cohort study of all patients admitted to our institution with a diagnosis of moderate or severe UC crisis between January 2008 and May 2019. Truelove Witts (TW) criteria were used to categorize disease severity. Twelve-month colectomy-free survival was estimated with Kaplan-Meier survival analysis. Results: One hundred-twenty patients aged 16 to 89 (median 35) years had 160 admissions for acute moderate to severe UC. Median admission per patient was 1 (1-3), and median hospital stay was six days (1-49). Cytomegalovirus and Clostridioides difficile were found in 17.5 and 14.2% of crises, respectively. Corticosteroids were used in all crises and biologic therapy in 6.9% of them. Emergency or elective colectomies were performed in 18.3 and 6.7% of patients, respectively. The need for emergency total colectomy decreased from 24.6 to 7.8% (Risk ratio 3.16, p < 0.01) between de first and second half of the study period. Kaplan-Meier analysis for long term colectomy-free survival in both periods confirmed this decrease (p < 0.01). CONCLUSIONS: Medical treatment for moderate to severe UC crises had a 86.3% success and a small percentage required emergency total colectomy. Emergency surgery decreased in the last decade.


Subject(s)
Humans , Colitis, Ulcerative/surgery , Colitis, Ulcerative/drug therapy , Gastrointestinal Agents/therapeutic use , Treatment Outcome , Colectomy , Infliximab/therapeutic use
3.
Rev. méd. Chile ; 147(8): 1059-1066, ago. 2019. tab, graf
Article in Spanish | LILACS | ID: biblio-1058643

ABSTRACT

Background: Continuing education is essential for health professions and online courses can be a good way for professional development. Aim: To describe the experience with online courses for continuing education in hepatology and gastroenterology and to analyze their educational impact. Material and Methods: A three years' experience in courses on liver diseases and digestive tract is described. Their curricular design, methodology, and the educational impact was analyzed using the four levels of the Kirkpatrick's model. Results: On average, there were 321 students per course (2015-2017). 94% were Chilean and 6% from abroad (20 countries). In the educational impact analysis, in level 1 "reaction": 93% said that the course fulfilled their expectations and 92% would recommend it. In level 2 "learning": 42% approved the courses. Level 3 "behavior" was not evaluated and level 4 "organizational change" highlighted that the traditional face-to-face continuing education model of Chilean Gastroenterology Society (SChG) changed to full distance model in these three courses, with 1284 students from South America, Asia and Europe, in a 3-years-period. Additionally, these programs were included in the Medical Society of Santiago (SMS) continuing education agenda. Conclusions: The alliance between the SMS and the SChG generated on line courses that meet the educational needs of physicians and medical students, with excellent results and student perception.


Subject(s)
Humans , Male , Female , Education, Distance/methods , Education, Medical, Continuing/methods , Gastroenterology/education , Societies, Medical , Time Factors , Program Evaluation , Chile , Reproducibility of Results , Educational Measurement , Geography
4.
Rev. méd. Chile ; 146(2): 183-189, feb. 2018. tab
Article in Spanish | LILACS | ID: biblio-961376

ABSTRACT

Background: Exclusive involvement of the colon or rectum in Crohn's disease, called Crohn's colitis, (CC) occurs in about 25% of these patients. Aim: To analyze early surgical results and long-term outcomes of patients undergoing surgery for CC. Material and Methods: Review of a prospective database, identifying patients with Crohn's disease operated between 2003 and 2015 and excluding those with ileocecal disease. We analyzed demographic data, pre and postoperative pharmacological treatment, operations, morbidity and the need for a second bowel resection at follow-up. Results: We reviewed data from 28 patients aged 17 to 72 years (15 men). Twenty-seven (96.4%) had previous pharmacological treatment, 11 received monoclonal antibodies. The most common indications for surgical treatment were failure of medical treatment in 15 cases, acute severe colitis in 12 and anemia/malnutrition in eight. Total colectomy was performed in 17 (61%) patients, proctocolectomy in 8 (29%) and segmental colectomies in 3 (11%). Sixteen (57%) were operated laparoscopically. Major postoperative complications were observed in 5 (18%). Four needed a reintervention. There was no operative mortality. During a 55 months median follow-up of 27 patients, seven (26%) required a second bowel resection, one of them for recurrence. Nineteen (70%) patients had an ostomy, which was permanent in 11. Fifteen patients are without medical treatment. Conclusions: Most of the reviewed patients required total colectomy for the control of the disease with a low surgical morbidity. Two-thirds required an ileostomy, which became permanent in half of them.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Young Adult , Crohn Disease/surgery , Postoperative Complications , Prospective Studies , Follow-Up Studies , Treatment Outcome , Length of Stay
5.
Rev. chil. infectol ; Rev. chil. infectol;35(5): 566-573, 2018. tab, graf
Article in Spanish | LILACS | ID: biblio-978071

ABSTRACT

Resumen El trasplante de microbiota fecal (TMF) constituye una terapia altamente eficaz en la infección por Clostridium difficile (ICD) recurrente. La mejor vía de administración del material fecal aún no ha sido establecida; sin embargo, la vía baja a través de colonoscopía resulta eficaz, segura y de mayor aceptación por los pacientes, permitiendo además el examen de la mucosa del colon en busca de diagnósticos diferenciales. Presentamos una serie de casos de TMF realizados en nuestra institución a través de colonoscopía, destacando los resultados y aspectos prácticos para su implementación.


Fecal microbiota transplantation (FMT) is a highly effective therapy in recurrent Clostridium difficile. The best route to administrate the fecal matter has not been established yet. However, the lower gastrointestinal route by colonoscopy is effective and safe, presenting a higher acceptance by patients. In addition, this route allows an evaluation of colonic mucosa seeking for differential diagnostics. We present a case series of FMT performed in our institution by colonoscopy, highlighting outcomes and practical aspects for its implementation.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Young Adult , Clostridium Infections/therapy , Fecal Microbiota Transplantation/methods , Recurrence , Colonoscopy , Treatment Outcome , Fecal Microbiota Transplantation/adverse effects
6.
Rev. méd. Chile ; 145(1): 75-84, ene. 2017. ilus, tab
Article in Spanish | LILACS | ID: biblio-845508

ABSTRACT

Ulcerative Colitis (UC) is a chronic inflammatory disease involving the colon, with alternating periods of remission and activity. Exacerbations can be severe and associated with complications and mortality. Diagnosis of severe UC is based on clinical, biochemical and endoscopic variables. Patients with severe UC must be hospitalized. First line therapy is the use of intravenous corticoids which achieve clinical remission in most patients. However, 25% of patients will be refractory to corticoids, situation that should be evaluated at the third day of therapy. In patients without response, cytomegalovirus infection must be quickly ruled out to escalate to second line therapy with biological drugs or cyclosporine. Total colectomy must not be delayed if there is no response to second line therapy, if there is a contraindication for second line therapies or there are complications such as: megacolon, perforation or massive bleeding. An active management with quick escalation on therapy allows to decrease the prolonged exposure to corticoids, reduce colectomy rates and its perioperative complications.


Subject(s)
Humans , Female , Colitis, Ulcerative/therapy , Severity of Illness Index , Colitis, Ulcerative/diagnostic imaging , Chronic Disease , Risk Factors , Endoscopes
7.
ARS med. (Santiago, En línea) ; 42(1): 34-40, 2017.
Article in Spanish | LILACS | ID: biblio-1016364

ABSTRACT

El impacto del consumo de cigarrillo a nivel respiratorio y cardiovascular ha sido extensamente investigado, sin embargo, aún queda mucho por estudiar sobre su impacto en el tracto gastrointestinal. Está demostrado que el tabaquismo es un importante factor de riesgo para desórdenes gastrointestinales, incluyendo úlceras pépticas, Enfermedad de Crohn y distintos tipos de cáncer. Los mecanismos propuestos incluyen daños a nivel de la mucosa, alteraciones en la irrigación del tejido y cambios en la respuesta inmune. Paradojalmente, el consumo de cigarrillo constituye un factor protector para el desarrollo y la progresión de la Colitis Ulcerosa. Esta patología, junto a la Enfermedad de Crohn, conforman las dos entidades más importantes dentro de las Enfermedades Inflamatorias Intestinales y comparten diversas características. El impacto diferencial del consumo de cigarrillo entre ambas ha sido un tema de gran interés en los últimos treinta años, y aún no ha logrado ser esclarecido. En esta revisión describiremos los efectos conocidos del tabaquismo sobre el tracto gastrointestinal, y particularmente que intentan explicar el efecto opuesto del cigarrillo en la Enfermedad de Crohn y la Colitis Ulcerosa.(AU)


The impact of cigarette smoking on respiratory and cardiovascular diseases has been extensively researched, although further investigation is required to elucidate its impact on the gastrointestinal tract. It has been demonstrated that smoking is a major risk factor for gastrointestinal disorders, including peptic ulcers, Crohn's disease and various cancers. Proposed mechanisms include mucosal damage, changes in gut irrigation and changes in the mucosal immune response. Paradoxically, cigarette smoking is a protective factor for the development and progression of Ulcerative Colitis. Both Ulcerative colitis and Crohn's disease represent the two most important entities in Inflammatory Bowel Diseases and share several characteristics. The differential impact of smoking between these two disorders has been a topic of great interest in the last thirty years, and has yet to be clarified. In this review we describe the known effects of smoking on the gastrointestinal tract, and particularly in the intestinal inflammation, delving into the available studies that attempt to explain the opposite effect of smoking in Crohn's disease and Ulcerative colitis.(AU)


Subject(s)
Humans , Male , Female , Tobacco Products , Gastrointestinal Diseases , Inflammatory Bowel Diseases , Colitis, Ulcerative , Crohn Disease , Inflammation
8.
Rev. chil. infectol ; Rev. chil. infectol;33(1): 98-118, feb. 2016. ilus, tab
Article in Spanish | LILACS | ID: lil-776967

ABSTRACT

Background: Clostridium dijfficile-associated diarrhea (CDAD) has become very important due to the increase in its incidence, severity, recurrence and the associated economic burden. Having a national consensus guideline is essential to improve its management. Objective: To build a multidisciplinary and evidence-based consensus in prevention, diagnosis and treatment of CDAD. Methods: We convened a panel of experts in the field of infectious diseases, gastroenterology, evidence-based medicine and consensus methodology. The panel conducted a structured review of published literature in CDAD evaluating evidence levels and recommendation degree according to the methodology proposed by the GRADE working-group. A modified three-round Delphi technique was used to reach a consensus among the experts. Results: A group of 16 experts was established, 12 of them answered 18 clinically relevant questions. The levels of agreement achieved by the panel of 16 experts were 79% in the first round and 100% in the second and third round. The main consensus recommendations in prevention are: restricting the use of proton-pump inhibitors, primary prophylaxis with probiotics in antibiotics users, education of health personnel, isolation for patients hospitalized with CDAD, and cleaning the rooms exposed to C. difficile with products based in chlorine or hydrogen peroxide. In the diagnosis: use of biology molecular-based techniques is preferred and if not available, glutamate dehydrogenase-based algorithms may be recommended. With regard to treatment: the use of oral metronidazole in mild-moderate CDAD and oral vancomycin in severe CDAD are recommended. Treat the first recurrence with the same antibiotics according to severity. In the case of second and subsequent recurrences consider prolonged therapy with vancomycin, rifaximin or fecal microbiota transplant. Conclusion: The first Chilean consensus on prevention, diagnosis and treatment of CDAD is presented, which is a major step in improving national standards in the management of this disease.


Introducción: La diarrea asociada a Clostridium difficile (DACD) ha adquirido gran relevancia debido al aumento en su incidencia, gravedad, capacidad de recurrencia y carga económica asociada. Contar con una guía de consenso local es fundamental para mejorar su manejo. Objetivo: Elaborar un consenso multidisciplinara y basado en la evidencia en la prevención, diagnóstico y tratamiento de la DACD. Métodos: Se convocó a un panel de expertos en el área de enfermedades infecciosas, gastroenterología, medicina basada en la evidencia y metodología de consenso. El panel realizó una revisión estructurada de la literatura científica publicada en DACD evaluando el nivel de la evidencia y recomendación utilizando el sistema GRADE. Una técnica de Delfi modificada de tres rondas fue utilizada para alcanzar un consenso entre los expertos. Resultados: Se estableció un grupo de 16 expertos, 12 de ellos respondieron 18 preguntas de relevancia clínica. Los niveles de acuerdo alcanzados por el panel de 16 expertos fueron de 79% en la primera ronda y 100% en la segunda y tercera ronda. Las principales recomendaciones en prevención son: restricción del uso de inhibidores de la bomba de protones, profilaxis primaria con probióticos en usuarios de antimicrobianos de corto plazo, educación del personal de salud, aislamiento de contacto en pacientes hospitalizados con DACD y aseo de las habitaciones expuestas a C. difficile con productos en base a cloro o peróxido de hidrógeno. En el diagnóstico se recomienda: el uso de técnicas basadas en biología molecular y como alternativa algoritmos en base a glutamato deshidrogenasa. Con respecto al tratamiento, se recomienda el uso de metronidazol oral en DACD leve-moderada y vancomicina oral en DACD grave. El tratamiento de la primera recurrencia es con los mismos antimicrobianos de acuerdo a la gravedad, considerando en la segunda recurrencia y posteriores terapia prolongada con vancomicina, rifaximina o trasplante de microbiota fecal. Conclusión: Se presenta el primer consenso chileno en prevención, diagnóstico y tratamiento de DACD, paso trascendental en mejorar los estándares locales en el manejo de esta enfermedad.


Subject(s)
Humans , Clostridioides difficile , Clostridium Infections , Diarrhea/microbiology , Chile , Consensus , Clostridium Infections/diagnosis , Clostridium Infections/drug therapy , Clostridium Infections/prevention & control
9.
Gastroenterol. latinoam ; 27(supl.1): S22-S25, 2016.
Article in Spanish | LILACS | ID: biblio-907648

ABSTRACT

Ulcerative colitis is a chronic inflammation in the mucosa layer of the colon characterized by activity and remitting episodes of varying severity and extension. Most of the flares are mild to moderate. They require outpatient treatment and have a good prognosis. The severe crises can have a high mortality if not treated on time. The success of the therapy depends on a multidisciplinary team.


La colitis ulcerosa en una inflamación crónica de la mucosa del intestino grueso que se caracteriza por episodios de actividad y remisiones de gravedad y extensión variable. La mayoría de las crisis son leves a moderadas, requieren tratamiento ambulatorio y son de buen pronóstico. Las crisis graves pueden llegar a tener una alta mortalidad si no son tratadas a tiempo. El éxito de la terapia depende de un equipo multidisciplinario.


Subject(s)
Humans , Anti-Bacterial Agents/therapeutic use , Colitis, Ulcerative/therapy , Infliximab/therapeutic use , Patient Care Team , Biosimilar Pharmaceuticals/therapeutic use , Colitis, Ulcerative/physiopathology
10.
Rev. chil. infectol ; Rev. chil. infectol;31(6): 659-665, dic. 2014. tab
Article in Spanish | LILACS | ID: lil-734757

ABSTRACT

Introduction: By consensus severe, Clostridium difficile-associated infection (CDAI) is one that results in hospitalization in ICU, colectomy or death within 30 days. Multiple prognostic indices (IP) attempt to predict these adverse events. Objective: To evaluate the performance of 4 PI in predicting severe CDI. Methods: Hospitalized patients ≥ 18 years old with ICD were retrospectively evaluated. Patients with recurrent infection or hematological cancer were excluded. Four PI were evaluated: UPMC version 1, Calgary version 1, Hines VA and Calgary version 2. Results: Seven of 81 patients (8.1%) met the definition of severe CDI. Positive predicted value (PPV) and negative predicted value (NPV) of PI ranged from 20-75% and 91.3-95.7%, respectively. Only Hines VA index had a satisfactory Kappa index (0.74; 95% CI 0.41-1) with a PPV of 75% and NPV of 95,7%. However, because of the variables included, this PI could be calculated only in 32.6% of patients. Conclusion: Hines VA index has the best predicted value and agreement to rule out a severe CDI. Like others PI it has the limitation of including difficult variables to assess in all patients and tends to overestimate an unfavorable course.


Introducción: Por consenso, la infección asociada a Clostridium difficile (IACD) grave es aquella que resulta en hospitalización en unidad de cuidados intensivos, colectomía o muerte dentro de 30 días. Múltiples índices pronósticos (IP) intentan predecir estos eventos adversos. Objetivo: evaluar el rendimiento de cuatro IP en la predicción de IACD grave. Metodología: pacientes hospitalizados ≥ 18 años con IACD fueron evaluados retrospectivamente. Se excluyeron pacientes con infección recurrente o cáncer hematológico. Se evaluaron cuatro IP: UPMC versión 1, Calgary versión 1, Hines VA y Calgary versión 2. Resultados: Siete de 81 pacientes (8,1%) presentaron una IACD grave. El valor predictor positivo (VPP) y valor predictor negativo (VPN) de los IP varió entre 20-75% y 91,3-95,7%, respectivamente. Sólo el índice de Hines VA tuvo un índice Kappa satisfactorio (0,74;IC 95% 0,46-1) con un VPP de 75% y un VPN de 95,7%. Sin embargo, por las variables incluidas en este IP, sólo pudo ser calculado en 32,6% de los pacientes. Conclusión: El índice de Hines VA presenta el mejor valor predictor y concordancia para descartar una IACD grave. Como otros IP, tiene la limitación de incluir variables difícilmente evaluables en todos los pacientes y tiende a sobreestimar un curso desfavorable.


Subject(s)
Female , Humans , Male , Middle Aged , Clostridioides difficile , Clostridium Infections/mortality , Severity of Illness Index , Hospitals, University , Prognosis , Retrospective Studies
11.
Rev. chil. infectol ; Rev. chil. infectol;31(6): 694-703, dic. 2014. ilus
Article in Spanish | LILACS | ID: lil-734764

ABSTRACT

C. difficile is an anaerobic spore former pathogen and the most important etiologic agent of nosocomial and community acquired antibiotics associated diarrheas. C. difficile infections (CDI) are responsible for an elevated rate of morbidity in developed and developing countries. Although the major virulence factors responsible for clinical symptoms of CDI are the two toxins TcdA and TcdB, C. difficile spores are the main vehicle of infection, persistence and transmission of CDI. Recent work has unrevealed unique properties of C. difficile spores that make them remarkable morphotypes of persistence and transmission in the host, including their resistance to antibiotics, the host immune response and disinfectants. The present review summarizes relevant aspects of C. difficile spore biology that have major implications from a clinical and medical perspective.


Clostridium difficile es un patógeno anaerobio, formador de esporas y el agente etiológico más importante de las diarreas asociadas a antimicrobianos, tanto nosocomiales como adquiridas en la comunidad. Las infecciones asociadas a C. difficile poseen una elevada tasa de morbilidad en países desarrollados y en vías de desarrollo. Los dos factores de virulencia principales son TcdA y TcdB, toxinas que causan la remodelación del citoesqueleto lo cual desencadena los síntomas clínicos asociados a esta enfermedad infecciosa. A pesar que las esporas de C. difficile son el principal vehículo de infección, persistencia en el hospedero y de transmisión, pocos estudios se han enfocado sobre este clave aspecto. Es altamente probable que la espora juegue roles esenciales en los episodios de recurrencia y de transmisión horizontal de la infección por este microorganismo. Estudios recientes han revelado características únicas de las esporas de C. difficile que las hacen capaces de ser altamente transmisibles y persistir dentro del hospedero. Más aún, algunas de estas propiedades están relacionadas con la resistencia de sus esporas a los desinfectantes más comúnmente usados en los recintos hospitalarios. La presente revisión resume los conocimientos más relevantes en la biología de las esporas de C. difficile, con un énfasis en aquellos aspectos con implicancias clínicas, incluido el control de infecciones en el ambiente hospitalario.


Subject(s)
Humans , Clostridium Infections/microbiology , Clostridioides difficile/pathogenicity , Cross Infection/microbiology , Spores, Bacterial/pathogenicity , Clostridium Infections/transmission , Cross Infection/transmission , Diarrhea/microbiology , Virulence Factors
12.
Rev. méd. Chile ; 140(7): 889-895, jul. 2012. ilus
Article in Spanish | LILACS | ID: lil-656360

ABSTRACT

Background: Thiopurines (azathioprine and 6-mercaptopurine) are highly effective medications but with potential adverse effects. Thiopurine methyltransferase (TMPT) is the key enzyme in their pharmacokinetics and is genetically regulated. A low activity of TPMT is associated with myelotoxicity. The genotype and enzyme activity can vary by ethnicity. Aim: To study the activity and genotype of TPMT in a group of Chilean subjects. Material and Methods: In 200 healthy adult blood donors, TPMT activity was determined by high performance liquid chromatography (HPLC). Deficient, low, normal or high levels were defined when enzymatic activity was < 5, 6-24,25-55 and > 56 nmol/grHb/h, respectively. Genotyping of TPMT (*1, *2, *3A, *3B, *3C) was performed by PCR. Results: Seventy seven women (38.5%) and 123 men (61.5%), with an average age of 34.9 years were studied. Eighteen subjects (9%) had a low enzymatic activity, 178 (89%) had normal activity, 4 (2%) had high activity and no genotype deficient subjects were identified. The wild type genotype (*1) was found in 184 (92%) individuals and 16 (8%) were heterozygous for the variants: *2 (n = 2), *3A (n = 13) and *3C (n = 1). No homozygous subjects for these variants were identified. Wild type genotype had an increased enzymatic activity (40.8 ± 7.2 nmol/gHb/h) compared to heterozygous group (21.2 ± 3 nmol/ gHb/h; p < 0.001). Conclusions: Less than 10% of a Chilean population sample has a low enzymatic activity or allelic variants in the TPMT gene, supporting the use of thiopurines according to international recommendations.


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Young Adult , Methyltransferases/genetics , Chile , White People/genetics , White People/statistics & numerical data , Gene Frequency , Genotype , Indians, South American/genetics , Indians, South American/statistics & numerical data , Methyltransferases/metabolism , Phenotype , Polymerase Chain Reaction , Polymorphism, Genetic
13.
Gastroenterol. latinoam ; 22(3): 232-237, jul.-sept. 2011. tab, graf
Article in Spanish | LILACS | ID: lil-661665

ABSTRACT

It has been suggested that the R92Q mutation of the tumour necrosis factor receptor superfamily 1A (TNFRS1A) gene may be implicated in different inflammatory disorders. The aim of this study was to establish the role of this mutation as a determinant of Crohn`s disease (CD) susceptibility and/or clinical phenotype. One hundred and sixty-five CD patients and 203 healthy controls were prospectively included. The frequency of individuals carrying the R92Q mutation was similar between CD patients (4.24 percent) and controls (4.43 percent) (OR: 0.95; 95 percent CI = 0.34-2.62). In the genotype-phenotype evaluation, the univariate analysis showed that extra-intestinal manifestations were positively associated with the presence of R92Q mutation (p = 0.025; OR: 5.56; 95 percent CI = 1.04-29.6). In the multivariate analysis, presence of R92Q mutation was independently associated to extra-intestinal manifestations of CD, specially cutaneous manifestations (p = 0.02; OR: 5.17, 95 percent CI = 1.07-24.8). The R92Q mutation of TNFRSF1A gene is not a determinant of CD susceptibility, but contributes to the appearance of extra-intestinal manifestations of the disease.


Se ha sugerido que la mutación R92Q del gen de la super-familia del receptor del factor de necrosis tumoral 1A (TNFRS1A) podría estar relacionada con diversos trastornos inflamatorios. El objetivo de este estudio fue determinar el papel de esta mutación como factor determinante de la susceptibilidad y/o fenotipo clínico de la enfermedad de Crohn (EC). Ciento sesenta y cinco pacientes con EC y 203 controles sanos fueron incluidos de manera prospectiva. La frecuencia de individuos portadores de la mutación R92Q fue similar entre los pacientes con EC (4,24 por ciento) y los controles (4,43 por ciento) (OR: 0,95; 95 por ciento IC = 0,34-2,62). En la evaluación genotipo-fenotipo, el análisis univariado indicó que las manifestaciones extra-intestinales estaban relacionadas con la presencia de la mutación R92Q (p = 0,025; OR: 5,56; 95 por ciento IC = 1,04-29,6). En el análisis multivariado, la presencia de la mutación R92Q estuvo relacionada de manera independiente con las manifestaciones extra-intestinales de la EC, especialmente manifestaciones cutáneas (p = 0,02; OR: 5,17, 95 por ciento IC = 1,07-24,8). La mutación R92Q del gen TNFRSF1A no es un factor determinante de susceptibilidad a EC, pero contribuye a la aparición de manifestaciones extra-intestinales de la enfermedad.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Crohn Disease/complications , Crohn Disease/genetics , Receptors, Tumor Necrosis Factor, Type I/genetics , Inflammatory Bowel Diseases/genetics , Skin Diseases/etiology , Case-Control Studies , Follow-Up Studies , Phenotype , Genotype , Mutation
15.
Gastroenterol. latinoam ; 21(4): 468-475, oct.-dic. 2010. ilus, tab
Article in Spanish | LILACS | ID: lil-679628

ABSTRACT

Subepithelial lesions are a frequent finding in the upper gatrointestinal tract. Endoscopic ultrasound (EUS) is the preferred procedure to characterize these lesions, but in case of a hypoechogenic image, this technique does not differentiate between leiomyoma and a potentially malignant gastrointestinal stromal tumor (GIST). The diagnosis is determined by histological study and immunohistochemistry (IHC), but endoscopic sampling and EUS-guided techniques have efficiency below 60 percent. Objective: To assess the performance of submucous resection and Jumbo biopsy forceps technique, to access esophageal subepithelial lesions and sampling for histology and IHC. Methods: Endosonographic assessment of the subepithelial lesion. Biopsy samples of tissue were obtained with Jumbo biopsy forceps for histology and IHC. Results: Seven patients were evaluated. Age: 54.8 years (range 32-69), 5 esophageal lesions and 2 gastric lesions, maximum diameter of 15.6 mm (range 10-20). The procedure was successful in all patients, no complications were seen. Histology showed that all esophageal lesions were leiomyomas, CD 117 and CD 34 were negative in the selected patients (4 of 4). Gastric lesions corresponded to a heterotopic pancreas and one GIST with positive reaction to CD 117 and CD 34. Discussion: The described technique is useful to obtain histology and IHC diagnosis of esophageal subepithelial lesions. Prospective studies are necessary to compare these techniques with EUS-guided techniques.


Las lesiones subepiteliales son un hallazgo frecuente en el tubo digestivo alto. La ultrasonografía endoscópica (USE) es el examen de elección para caracterizarlas, pero frente a una imagen hipoecogénica no diferencia entre un leiomioma y un tumor estromal gastrointestinal (GIST) potencialmente maligno. El diagnóstico se establece con estudio histológico e inmunohistoquímica (IHQ) pero la obtención de muestra por vía endoscópica y las técnicas guiadas por USE tienen un rendimiento que no supera el 60 por ciento. Objetivo: Evaluar el rendimiento de la técnica de incisión submucosa y biopsia con pinza jumbo, para acceso a lesiones subepiteliales esofágicas o gástrricas y obtención de muestras para estudio histológico e IHQ. Métodos: Se realiza evaluación endosonográfica de la lesión subepitelial seguido de incisión de mucosa y submucosa con papilótomo de punta para acceso a la lesión. Se toman muestras de tejido con pinza Jumbo, para estudio histológico e IHQ. Resultados: Se evaluaron 7 pacientes, edad 54,8 años (32-69), 5 lesiones esofágicas y 2 gástricas, diámetro máximo de 15,6 mm (rango 10-20). El procedimiento fue exitoso en todos los pacientes, sin complicaciones. En el estudio histológico todas las lesiones esofágicas correspondieron a leiomiomas, CD 117 y Cd 34 negativo en los pacientes en que fue solicitado (4 de 4). Las lesiones gástricas correspondieron a un páncreas heterotópico y un GIST con reacción positiva para CD 117 y CD 34. Discusión: La técnica descrita es útil para obtener diagnóstico histológico e IHQ de lesiones esofagogástricas subepiteliales. Estudios prospectivos son necesarios para compararlas con técnicas guiadas por USE.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Leiomyoma/pathology , Leiomyoma , Gastrointestinal Stromal Tumors/pathology , Gastrointestinal Stromal Tumors , Biopsy , Endoscopy, Gastrointestinal , Endosonography , Immunohistochemistry , Gastric Mucosa/pathology , Gastric Mucosa , Esophageal Neoplasms/pathology , Esophageal Neoplasms , Gastrointestinal Neoplasms/pathology , Gastrointestinal Neoplasms
16.
Gastroenterol. latinoam ; 21(2): 226-229, abr.-jun. 2010.
Article in Spanish | LILACS | ID: lil-570012

ABSTRACT

Objetivo: Revisar aspectos epidemiológicos y clínicos de las enteritis de etiología viral en pacientes adultos inmunocompetentes. Resumen: La diarrea aguda infecciosa (enteritis) es una patología relevante en todo el mundo y aún es responsable de una alta mortalidad en niños y elevada morbilidad en adultos. En pacientes adultos inmunocompetentes la etiología viral es frecuentemente subestimada aunque la mayoría de las enteritis agudas son causadas por virus. Los agentes virales más frecuentemente identificados son el Norovirus, Rotavirus, Astrovirus, y Adenovirus. Su principal vía de contagio es la ruta fecal-oral y el cuadro clínico suele ser en su gran mayoría leve y autolimitado, con manifestaciones clínicas similares e inespecíficas: diarrea acuosa, náuseas, vómitos y dolor abdominal. Adultos mayores y pacientes inmunosuprimidos pueden presentar cuadros más severos y prolongados. El tratamiento es fundamentalmente sintomático. La prevención se basa en tomar medidas sanitarias y limitar el contagio de persona a persona. Virus respiratorios emergentes como SARS e InfluenzaA-H1N1, con frecuencia comprometen el tracto gastrointestinal y en períodos de epidemia deben ser considerados en el diagnóstico diferencial de enteritis aguda.


Objective: To review epidemiological and clinical aspects of viral enteritis in immunocompetent adult patients. Abstract: Acute infectious diarrhea (enteritis) is a worldwide important disease and it still accounts for high mortality among children and high morbidity among adults. In immunocompetent adult patients the viral etiology is frequently underestimated, although the most common cause of acute enteritis is avirus. The mos frequently identified viral agents are Norovirus, Rotavirus, Astrovirus, and Adenovirus. The main mechanism of spread of the disease is fecal-oral transmission and the clinical setting is commonly mild and self-limited, with clinical manifestations that are similar and unspecific: aqueous diarrhea, nausea, vomiting and abdominal pain. Elderly and immunosupressed patients may show more severe and prolonged episodes. Treatment is mainly symptomatic. Prevention is based on taking sanitary measures and reducing person-to-person transmission. Emerging respiratory viruses as SARS and A-H1N1 influenza frequently compromise the gastrointestinal tract and during epidemic periods these viruses should be considered in differential diagnosis of acute enteritis.


Subject(s)
Humans , Adult , Aged , Gastroenteritis/virology , Virus Diseases/diagnosis , Virus Diseases/epidemiology , Virus Diseases/therapy , RNA Viruses/pathogenicity , Adenoviridae/pathogenicity , Diarrhea/virology , Enterovirus/pathogenicity , Immunocompetence , Norovirus/pathogenicity , Rotavirus/pathogenicity , Influenza A Virus, H1N1 Subtype/pathogenicity , Virulence , Severe acute respiratory syndrome-related coronavirus/pathogenicity
17.
Gastroenterol. latinoam ; 21(2): 218-221, abr.-jun. 2010. tab
Article in Spanish | LILACS | ID: lil-570010

ABSTRACT

La Yersinia enterocolitica o la Yersinia pseudotuberculosis pueden tener diferentes formas de presentación entre las que están la enteritis o enterocolitis, la adenitis mesentérica asociada a ileitis distal, la septicemia, infecciones localizadas o manifestaciones extraintestinales. Es responsable de hasta 7 por ciento de los cuadros de gastroenteritis infecciosas y se asocia a una elevada mortalidad post-infección a corto y largo plazo, de 2 a 3 veces mayor. Esta infección bacteriana se adquiere mediante la ingesta oral de productos contaminados y/o inadecuadamente preparados. El aislamiento de Yersinia en las deposiciones es el examen más específico y siempre debe ser solicitado. Debido a su baja sensibilidad los estudios serológicos pueden ser útiles para el diagnóstico, y la reacción de polimerasa en cadena (PCR) puede constituirse próximamente en el examen de elección para el diagnóstico de esta infección. Los antibióticos útiles para su tratamiento son los aminoglicósidos, cefalosporinas de tercera generación, cloranfenicol, quinolonas, tetraciclinas y trimetoprim-sulfametoxazol.


Yersinia enterocolitica or yersinia pseudotuberculosis may have different presentation forms: among those are enteritis or enterocholitis, mesenteric adenitis associated with distal ileitis, septicemia, localized infections or extra-intestinal manifestations. It is responsible for up to 7 percent of infectious gastroenteritis and is associated with high post-infection mortality in the short and long term, which is 2 to 3 times higher. This bacterial infection is acquired through oral consumption of contaminated and/or inappropriately prepared products. Isolation of Yersinia in stool samples is the more specific exam and it should always be performed. Due to its low sensibility, serological studies may be useful for the diagnosis, and the polymerase chain reaction (PCR) may become the elective exam for the diagnosis of this infection in the future. Antibiotics that are useful for its treatment are aminoglycoside, third-generation cephalosporins, chloramphenicol, quinolones, tetracyclines, and Trimetoprim-sulfametoxasol.


Subject(s)
Humans , Gastroenteritis/microbiology , Yersinia Infections/diagnosis , Yersinia Infections/physiopathology , Yersinia Infections/drug therapy , Anti-Bacterial Agents/therapeutic use , Feces/microbiology , Serologic Tests , Polymerase Chain Reaction , Yersinia enterocolitica/isolation & purification , Yersinia enterocolitica/pathogenicity , Yersinia pseudotuberculosis/isolation & purification , Yersinia pseudotuberculosis/pathogenicity
18.
Gastroenterol. latinoam ; 21(1): 30-33, ene.-mar. 2010. graf
Article in Spanish | LILACS | ID: lil-570404

ABSTRACT

The knowledge of the Inflammatory Bowel Disease (IBD), especially related to the emergence of new therapies, has had a big development in the last years. There are no courses of specific areas in the practice of post-graduated education applied in a transversal approach to the residents of different education centers in Chile. Objectives: The aim of this study is to evaluate the impact of an intensive IBD course on the skills of residents of clinical specialties related to these diseases. Method: An intensive 14-hour course with a total of 36 lectures and 4 seminars that included the pathogenesis, diagnostic and treatment of IBD. The residents of adult gastroenterology (AG), pediatric gastroenterology (PG) and coloprocotology (CP) were evaluated by an examination including 28 questions of multiple selections. The test was taken before and after the course. A score of minimum competence was established using the modified Angoff method. The delta of individual knowledge was estimated, by speciality and global group (GG). The perception of the quality of the course was evaluated by a survey validated in 11 items. Results: The course was carried out in April 2009 with the participation of 22 residents (12 AG and 5PG, 5CP) the diagnostic test showed a 57,6% correct answers of the total group; AG 69,3% PG 36,4% and CP 49%, respectively. Twelve of 22 (54%) competent residents of the GG; GA AG 90% PG 0% and CP 40%, respectively. The global delta increase was of 29,4% of net gain. The specialty that showed the major improvement of knowledge at the end of the course was PG (49%). At the end of the course 100% were competent, with a positive impact in the knowledge of this disease by the residents. The residents were satisfied with the course, emphasizing the issues related to the organization, methodology and the topics included in the course. All participants would recommend the experience...


El conocimiento en el área de la Enfermedad Inflamatoria Intestinal (EII), en especial la aparición de nuevas terapias ha tenido un vertiginoso desarrollo en los últimos años. No hay en la práctica de post-grado cursos de áreas específicas aplicados de manera transversal a los alumnos de distintos centros de formación de especialistas. Objetivo: El objetivo de este estudio es evaluar el impacto en las competencias de un curso intensivo en el área de la EII a residentes de especialidades clínicas vinculadas a estas patologías. Métodos: Se realizó un curso intensivo de 14 horas presenciales con un total de 36 exposiciones y 4 seminarios que incluyeron aspectos relacionados con la patogénesis, diagnóstico y tratamiento de la EII. Los alumnos, de gastroenterología adultos (GA), gastroenterología infantil(GI) y coloprocotología (CP) fueron evaluados con un examen de 28 preguntas de selección múltiple. Dicho examen fue aplicado previo y posterior al curso. Se estableció el puntaje de mínima competencia mediante el método de Angoff modificado. Se estimó el delta de ganancia de conocimiento individual, por especialidad y grupo global (GT). La percepción de la calidad del curso fue evaluado mediante encuesta validada de 11 ítems. Resultados: El curso fue realizado en abril de 2009 con la participación de 22 residentes (12 GA, 5 GI y 5CP). La prueba diagnóstico muestra un 57,6% de respuestas correctas del grupo total; GA 69,3% GI 36,4% y CP 49%, respectivamente. El 54% de alumnos son competentes del GT, GA 90% GI 0% y CP40%, respectivamente. El delta global de ganancia para el GT fue de 29,4%. La especialidad que mostró tener un mayor delta de ganancia de conocimientos al final del curso fue GI (49%). Al final del curso el 100% mostró competencia, con un impacto positivo en el conocimiento de esta patología por parte de los residentes...


Subject(s)
Humans , Clinical Competence , Education, Medical, Graduate , Inflammatory Bowel Diseases/diagnosis , Inflammatory Bowel Diseases/therapy , Internship and Residency , Colitis, Ulcerative/diagnosis , Colitis, Ulcerative/therapy , Education, Medical , Crohn Disease/diagnosis , Crohn Disease/therapy , Program Evaluation , Gastroenterology
19.
Rev. méd. Chile ; 134(12): 1558-1561, dic. 2006. ilus, tab
Article in Spanish | LILACS | ID: lil-441435

ABSTRACT

Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is an autoinflammatory disorder associated to a mutation of the Tumor Necrosis Factor Receptor 1 (TNFR1) whose clinical presentation consists on recurrent episodes of prolonged fever, abdominal pain, myalgias, migratory cutaneous erythema, conjunctivitis or periorbitary edema. The diagnosis is confirmed by genetic analysis of the TNFR1 gene. Its main complication is amyloidosis and the treatment is based on the use of corticosteroids or anti-TNF antibodies. We report a 17 year-old male and 23 year-old female with the syndrome. Both cases had heterozygous mutations of the TNFR1 gene, C30R in the first case and T50M in the second case.


Subject(s)
Adolescent , Adult , Female , Humans , Male , Familial Mediterranean Fever/genetics , Mutation/genetics , Receptors, Tumor Necrosis Factor, Type I/genetics , Familial Mediterranean Fever/drug therapy , Familial Mediterranean Fever/pathology , Haplotypes/genetics , Syndrome
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