Tuberculosis in Anti-Tumour Necrosis Factor-treated Inflammatory Bowel Disease Patients After the Implementation of Preventive Measures: Compliance With Recommendations and Safety of Retreatment.

BACKGROUND AND AIMS: Despite having adopted preventive measures, tuberculosis (TB) may still occur in patients with inflammatory bowel disease (IBD) treated with anti-tumour necrosis factor (anti-TNF). Data on the causes and characteristics of TB cases in this scenario are lacking. Our aim was to describe the characteristics of TB in anti-TNF-treated IBD patients after the publication of the Spanish TB prevention guidelines in IBD patients and to evaluate the safety of restarting anti-TNF after a TB diagnosis. METHODS: In this multicentre, retrospective, descriptive study, TB cases from Spanish hospitals were collected. Continuous variables were reported as mean and standard deviation or median and interquartile range. Categorical variables were described as absolute and relative frequencies and their confidence intervals when necessary. RESULTS: We collected 50 TB cases in anti-TNF-treated IBD patients, 60% male, median age 37.3 years (interquartile range [IQR] 30.4-47). Median latency between anti-TNF initiation and first TB symptoms was 155.5 days (IQR 88-301); 34% of TB cases were disseminated and 26% extrapulmonary. In 30 patients (60%), TB cases developed despite compliance with recommended preventive measures; *not performing 2-step TST (tuberculin skin test) was the main failure in compliance with recommendations. In 17 patients (34%) anti-TNF was restarted after a median of 13 months (IQR 7.1-17.3) and there were no cases of TB reactivation. CONCLUSIONS: Tuberculosis could still occur in anti-TNF-treated IBD patients despite compliance with recommended preventive measures. A significant number of cases developed when these recommendations were not followed. Restarting anti-TNF treatment in these patients seems to be safe.

[Usefulness of digestive ultrasonography in the assessment of ulcerative colitis extent]. / Utilidad de la ecografía en la valoración de la extensión de la colitis ulcerosa.

INTRODUCTION: A full examination of the colon should be avoided upon finding severe endoscopic lesions in patients with ulcerative colitis. However, knowledge of the precise extent of disease is quite important for disease prognosis and the making of therapeutic decisions. Therefore, any validation of a non-invasive technique to assess the extent of ulcerative colitis gains a lot of interest and importance. MATERIAL AND METHOD: The study included patients that were previously diagnosed of having ulcerative colitis or were beginning to suffer from the disease. A prospective and blind evaluation was carried out to determine the precision of digestive ultrasonography in assessment of ulcerative colitis extent. All ultrasonography was carried out by the same person and was always performed prior to carrying out a full endoscopic study, which is used as the gold standard. The hydrocolonic ultrasonograpy technique was not used in any of the cases. RESULTS: A total of 20 patients -13 males (65%) and 7 females (35%), with an average age of 51.7 years (aged between 24-82 years)- were included in the study. Endoscopic studies revealed severe disease in 5 cases (25%), moderate disease in 12 patients (60%), and mild lesions in the 3 remaining cases (15%). A colonic ultrasonogram was considered satisfactory in 18 cases (90%), and the extent of disease as established by ultrasonography was in all cases consistent with that established through colonoscopy: 3 patients (16.6%) had ulcerative proctitis, 9 patients (50%) had left-sided ulcerative colitis, and 6 (33.3%) had extensive colitis. CONCLUSIONS: Digestive ultrasonography allows to study the colon in most patients, especially when inflammatory activity is present, and provides a greater accuracy in assessing ulcerative colitis extent, which is independent of its activity level.

Utilidad de la ecografía en la valoración de la extensión de la colitis ulcerosa / Usefulness of digestive ultrasonography in assessment of ulcerative colitis extent

Introducción: el hallazgo de lesiones endoscópicas severasen un paciente con colitis ulcerosa desaconseja la realización deuna exploración completa del colon. No obstante el conocimientode la extensión precisa de la enfermedad tiene gran importanciaen las decisiones terapéuticas a tomar y también en el pronósticode la enfermedad. Por todo ello, la validación de una técnica noinvasiva para el estudio de extensión de la colitis ulcerosa cobragran interés e importancia.Material y método: se incluyen en el estudio pacientes condiagnóstico previo de colitis ulcerosa o en el debut de la enfermedady, de forma prospectiva y ciega se evalúa la precisión de laecografía digestiva en la valoración de la extensión de la colitis ulcerosa.Las exploraciones ecográficas son realizadas todas ellaspor el mismo explorador y siempre con anterioridad al estudio endoscópicocompleto, que se usa como patrón oro. No se empleala técnica hidrocolónica en ningún caso.Resultados: han sido incluidos en el estudio 20 pacientes, 13varones (65%) y 7 mujeres (35%), con una edad media de 51,7años (rango de 24 a 82 años). Los estudios endoscópicos mostraronuna afectación severa en 5 casos (25%), moderada en 12 pacientes(60%) y lesiones leves en los 3 casos restantes (15%). Elestudio ecográfico del colon fue considerado satisfactorio en 18casos (90%) y la extensión de la enfermedad establecida en el estudioecográfico coincide en todos los casos con la determinadapor la colonoscopia: 3 pacientes (16,6%) presentaban una proctitisulcerosa, 9 (50%) una colitis izquierda y 6 (33,3%) una colitisextensa.Conclusiones: la ecografía digestiva permite el estudio delmarco colónico en la mayoría de los pacientes, especialmente siexiste actividad inflamatoria, permitiendo establecer con gran precisiónla extensión de la colitis ulcerosa, independientemente delgrado de actividad de la misma

Introduction: a full examination of the colon should be avoidedupon finding severe endoscopic lesions in patients with ulcerativecolitis. However, knowledge of the precise extent of disease isquite important for disease prognosis and the making of therapeuticdecisions. Therefore, any validation of a non-invasive techniqueto assess the extent of ulcerative colitis gains a lot of interestand importance.Material and method: the study included patients that werepreviously diagnosed of having ulcerative colitis or were beginningto suffer from the disease. A prospective and blind evaluation wascarried out to determine the precision of digestive ultrasonographyin assessment of ulcerative colitis extent. All ultrasonographywas carried out by the same person and was always performedprior to carrying out a full endoscopic study, which is used as thegold standard. The hydrocolonic ultrasonograpy technique wasnot used in any of the cases.Results: a total of 20 patients –13 males (65%) and 7 females(35%), with an average age of 51.7 years (aged between 24-82years)– were included in the study. Endoscopic studies revealed severedisease in 5 cases (25%), moderate disease in 12 patients(60%), and mild lesions in the 3 remaining cases (15%). A colonicultrasonogram was considered satisfactory in 18 cases (90%), andthe extent of disease as established by ultrasonography was in allcases consistent with that established through colonoscopy: 3 patients(16.6%) had ulcerative proctitis, 9 patients (50%) had leftsidedulcerative colitis, and 6 (33.3%) had extensive colitis.Conclusions: digestive ultrasonography allows to study thecolon in most patients, especially when inflammatory activity ispresent, and provides a greater accuracy in assessing ulcerativecolitis extent, which is independent of its activity level

Síndrome de Ivemark recidivante / Recurrent Ivemark syndrome

Resumen

The Ivemark syndrome is one of the heterotaxy syndromesor also named cardiosplenic syndromes. During the normal embryological development, as the body left-right axis is established also the organs assume their definitive positions. When variation of the body organs arrangement occurs precociously in embryogenesis, there is a tendency toward symmetric development of normally asymmetric organs or organ systems, with concomitant complex cardiac defects. The most significant forms of heterotaxy syndromes are the polysplenia syndrome and the Ivemark syndrome. Both are rare syndromes and seem to be responsible for 1% of all congenital cardiac defects. The Ivemark syndrome is usually manifested as asplenia, bilaterally trilobed lungs, symmetric liver, with a central position in the upper abdomen, gallbladder centrally positioned or in the left side, and complex cardiopathy. The authors describe a case report of a second gestation of an healthy young couple, to whom a diagnosis of Ivemark syndrome was made at 20th gestacional week. In her obstetric history she had a term pregnancy, with an Ivemark syndrome newborn -anatomo-pathological diagnosis-, who died of cardio-pulmonary insufficiency in the neonatal period. In the current pregnancy an increased nuchal translucency was detected in the first trimester ultrasound. Amniocentesis for fetal cariotype revealed a normal cariotype for a male fetus. In the ultrasound at 21th gestational week a complex cardiopathy was identified and echocardiography confirmed the diagnosis of right isomerism. The couple decided for a pregnancy interruption, which was accepted. The anatomo-pathological exam confirmed the diagnosis of Ivemark syndrome

Trissomia parcial do cromossoma 9 e trissomia parcial do cromossoma 2 / Partial trisomy of the chromosome 9 and partial trisomy of the chromosome 2

La trisomía parcial del cromosoma 9 puede ser la cuarta trisomía autosómica más frecuente, precedida únicamente por las trisomías 21, 13 Y 18]. La trisomía parcial del cromosoma 9 junto con la trisomía parcial del cromosoma 2 originan un fenotipo overlapping, con caracteristicas de cada una de las trisomías. Los autores describen un caso clínico de una primigesta de 28 años, fenotípicamente normal y sin patología conocida, a quien, tras haberle sido detectada una cardiopatía fetal compleja en ecografía obstétrica de rutina realizada en el tercer trimestre del embarazo, con posterior confirmación ecocardiográfica, le fue realizada amniocentesis con el diagnóstico de trisomía 9. El estudio del cariotipo de los progenitores permitió revísar el cariotipo fetal y concluir que se trata de trisomía parcial del cromosoma 9 y trisomía parcial del cromosoma 2

Partial trisomy of the chromosome 9 can be the fourth most common autosomal trisomy, after trisomies 21, 13 and 181. Partial trisomy of the chromosome 9 with partial trisomy of the chromosome 2 results in a distinctive appearance, an overlapping phenotype, with characteristic patterns recognized of each trisomy. The authors describe a case of a primigravid 28 years old, healthy and with a normal phenotype, who had a prenatal diagnosis of trisomy of the chromosome 9 by amniocentesis, after detection of a major complex fetal cardiopathy in a routine ultrasound of the third trimester of the pregnancy, which had echocardiograph confirmation. Genetic investigation of both progenitors was done and it was possible to review the fetal cariotype then, which permitted to establish the final diagnosis of partial trisomy of the chromosome 9 with parcial trisomy of the chromosome 2

Prevalencia de hemocromatosis en trabajadores sanos. Importancia de añadir en la analítica de perfil bioquímico una saturación de transferrina / Prevalence of hereditary hemochromatosis among healthy workers: diagnostic value of transferrin saturation assay

Objetivo: La hemocromatosis es la enfermedad genética más común en la población blanca (dos a ocho casos por mil habitantes). Está caracterizada por una absorción excesiva de hierro, que conlleva a un acúmulo del mismo en diversos órganos. Su diagnóstico precoz, con la instauración de sangrías periódicas, condiciona que estos enfermos puedan igualarse a la población sana, tanto en calidad de vida como en sobrevivencia. Esto hace muy aconsejable la realización de despistaje de esta enfermedad en la población aparentemente sana. Aunque se han hecho grandes avances en los estudios genéticos de esta población, sigue siendo una saturación de transferrina (ST) elevada (superior a 60 porciento) el test más utilizado para iniciar una aproximación diagnóstica de la enfermedad. Nosotros realizamos ST a un grupo de trabajadores sanos para confirmar en nuestro medio la utilidad de este test en el diagnóstico de hemocromatosis. Método: Estudio prospectivo sobre 1.131 trabajadores activos que acuden a una revisión anual a un Centro Oficial de Seguridad e Higiene, practicándoseles a todos ST. Si ésta resulta elevada son derivados a un Centro Hospitalario para continuar con la aproximación diagnóstica de la hemocromatosis. Resultados: La ST resultó elevada en 22 trabajadores, de los cuales son estudiados 21 en un Centro Hospitalario. En once se normaliza la ST después de abstinencia de alcohol o al repetir el análisis. A nueve se les propone biopsia hepática, realizándose en seis. De estos seis se confirmó la hemocromatosis en tres, lo que hace una prevalencia confirmada, al menos, de 2.6 por mil habitantes. Conclusiones: Creemos que la saturación de transferrina es útil para iniciar el despistaje de hemocromatosis y que debería imponerse como parte del perfil bioquímico de analítica rutinaria. Otros métodos diagnósticos menos engorrosos que la biopsia hepática son necesarios para confirmar la enfermedad (AU)

[Prevalence of hereditary hemochromatosis among healthy workers. Diagnostic value of transferrin saturation assay]. / Prevalencia de hemocromatosis en trabajadores sanos. Importancia de añadir en la analítica de perfil bioquímico una saturación de transferrina.

AIM: Hereditary hemochromatosis is the most common inherited disorder in white population (2-8 cases per 1000 habitants). Hemochromatosis is characterized by increased intestinal absorption of iron leading to its deposition into multiple organs. An early diagnosis and proper management with frequent phlebotomies are known to improve life expectancy and quality of life. Diagnosis is suggested by an elevated Transferrin saturation (TS) (more than 60%). METHOD: Prospective study of the level of TS among 1131 healthy workers, who came to the Security and Hygiene Official Centre for their annual revision had been undertaken. RESULTS: Twenty-wo workers had high TS; in 10 of them the increase of TS was confirmed on repeated determinations. Liver biopsy was performed in six (and refused by the other four), eventually a diagnosis of hemochromatosis was confirmed in three (in-group prevalence of 2.6 per 1000 people). CONCLUSIONS: In our experience, TS is the most appropriate initial screening test for detecting hereditary hemochromatosis in a normal population.

[Duodenal gangliocytic paraganglioma]. / Paraganglioma gangliocítico duodenal.

We report a case of duodenal Gangliocytic Paranglioma in a 73 year old man, who presented with a history of melena. An upper gastrointestinal barium study showed a polyp located in the second portion of the duodenum. This lesion was endoscopically resected. Pathological examination revealed a Gangliocytic Paraganglioma. We describe the general characteristics of this neoplasm, as well as the theories about its histogenesis.