Revista Española de Enfermedades Digestivas

Nota del editor jefe

Genes and populations in susceptibility to celiac disease

**Frequency of MYO9B polymorphisms in celiac patients and controls**

Introduction: the MYO9B gene contributes to the maintenance of the intestinal barrier and it has been postulated as a risk factor of celiac disease (CD). The objective of this study was to compare the frequency and association rs2305764, rs2305767and rs1457092 MYO09B polymorphisms in pediatric CD patients from Chile and Argentina. Patients and methods: the study was made in 104 CD pediatric patients (Chilean and Argentineans) and 104 controls subjects. MYO9B gene polymorphisms were analyzed by Taqman allelic probes. We evaluated the Hardy-Weinberg equilibrium by means of Chi-square and compared the haplotypes distribution using Fisher test. Results: SNPs rs2305767 and rs1457092 were associated with celiac disease (CD); TT genotype in rs2305767 would be a protective factor (p < 0.000, OR = 0.19 CI 0.1-0.4) and the CT genotype would be a risk factor (p < 0.0001, OR = 4.9 CI 2.2 to 11.3). CC genotype in rs1457092 also showed a protective effect for celiac (p < 0.000, OR = 0.07 CI 0.0 to 0.3). Conclusion: our findings suggest that genetic variation MYO9B gene is associated with CD, as a protective or a risk factor depending on the polymorphism studied.

Introducción: el gen miosina IX B (MYO9B) participa en el mantenimiento de la barrera intestinal y se postula que puede aportar riesgo para desarrollar enfermedad celiaca (EC). El objetivo de este estudio fue comparar la frecuencia y la asociación de los polimorfismos rs 2305764, rs 2305767 y rs 1457092 del gen MYO9B en pacientes pediátricos con EC procedentes de Chile y Argentina. Pacientes y métodos: el estudio se realizó en 104 pacientes pediátricos con EC (chilenos y argentinos) y en 104 sujetos controles. El análisis de los polimorfismos del gen MYO9B se realizó mediante ensayos Taqman de discriminación alélica. Se evalúo equilibrio de Hardy-Weinberg mediante Chi-cuadrado y comparación de haplotipos según prueba de Fisher. Resultados: los polimorfismos de un solo nucleótido (SNPs) rs2305767 y rs1457092 mostraron asociación con la EC. El genotipo TT del rs2305767 sería un factor protector (p < 0,0001, OR = 0,19 IC 0,1-0,4) mientras que el genotipo CT sería un factor de riesgo (p < 0,0001, OR = 4,9 IC 2,2-11,3). En el rs1457092, el genotipo CC resultó también un factor protector frente a esta enfermedad (p < 0,0001, OR = 0,07 IC 0,0-0,3). Conclusión: nuestros hallazgos sugieren que la variación genética del gen MYO9B estaría asociada a la EC en este grupo de pacientes, constituyendo un factor tanto de protección como a susceptibilidad dependiendo del polimorfismo en cuestión.

Colorectal cancer survival: Results from a hospital-based cancer registry

Introduction: colorectal cancer is one of the most common malignancies in developed countries. Data on specific and 10-year survival are scarce. This study analyzes overall and disease-specific survival for patients with colorectal cancer and assesses the value of clinical factors on disease-specific survival. Methods: a retrospective cohort study of newly diagnosed invasive colorectal cancer cases diagnosed from 1992 to 2007 were identified through the Hospital del Mar Cancer Registry. Five- and 10-year survival functions were estimated using Kaplan-Meier method. Cox proportional hazard models were used to assess prognostic factors. Results: a total of 2,080 patients with colorectal cancer were identified. The median age at diagnosis was 72 years and 58.5% were men. By the end of the follow-up period (December 2008), 1,225 patients had died and 68.4% of deaths were due to colorectal cancer. The 5- and 10-year cancer-specific survival rates were 55.5% (95%CI 53.9-57.9%) and 48.5% (95%CI 45.6-51.3%), respectively. The 5-year specific survival rate improved in the last period (2003-2007) (60.4%, 95%CI 55.4-65.0) compared with 1992-1997 (53.4%; 95%CI 49.2-57.4) and 1998-2002 (52.0%; 95%CI 47.8-56.2). Various factors were independently associated with excess CRC mortality: male sex (HR 1.21), age at diagnosis > 75 years (HR 1.97), rectal location (HR 1.33), more advanced stages (stage IV: HR 18.54), poorly differentiated/undifferentiated tumors (HR 1.80), and admission through the emergency department (HR 1.52). Conclusions: cancer-specific survival improved from 1992 to 2007. This improvement could be due to more effective treatment, since changes in stage distribution or age at diagnosis were not observed during the study period. Overall survival rates should notably improve with the implementation of a population-based colorectal cancer screening program in Spain.

Using of magnetic resonance enterography in the management of Crohn's disease of the small intestine: First year of experience

Objective: to describe the experience at two tertiary centres during the first year of use of magnetic resonance enterography (MRE) for the management of Crohn's disease (CD): indications and influence of the technique in clinical decision making. Material and method: retrospective descriptive study in which patients who underwent MRE were included consecutively. Epidemiological and clinical data were collected from the patients, as well as the indication for the study and how it influenced clinical decision making in the 10 days following the radiological study. Results: 24 MREs were performed in suspected CD and 126 known CD; partial bowel obstruction in 53 patients (42%), monitoring of medical treatment in 34 (27%), due to incomplete ileocolonoscopy in 16 (13%), extension study of the small intestine in 15 (12%) and suspected complicated CD in 8 patients (6%). The MRE influenced in a change in treatment in 83 (55.3%) patients: 16 (10.7%) started with immunosuppressants, 41 (27.3%) with anti-TNFα were started on or switched, 15 (10%) were ordered surgery and in 3 (2%) changed from combined therapy to monotherapy. The MRE had less influence on clinical decision making in the group in which the indication was suspected CD (p < 0.05). Conclusions: the use of MRE helped on decision making in more than half of patients, especially with regards to decisions related to the use of biological therapies and the indication for surgery. MRE was less useful in suspected CD patients.

Objetivo: describir la experiencia de dos centros terciarios durante el primer año de uso de la enterografía por resonancia magnética (enteroRM) para el manejo de la enfermedad de Crohn (EC): indicaciones e influencia en la toma de decisiones clínicas. Material y métodos: estudio descriptivo retrospectivo. Se incluyeron de forma consecutiva a pacientes a los que se realizaba una enteroRM. Se recogieron los datos epidemiológicos y clínicos de los pacientes, la indicación de la prueba y como influyó sobre la toma de decisiones clínicas en los 10 días posteriores a la realización de la prueba radiológica. Resultados: se realizaron 24 enteroRM por sospecha de EC y 126 por seguimiento clínico en pacientes con EC conocida: clínica suboclusiva en 53 (42%), monitorización de los tratamientos médicos en 34 (27%), completar el estudio por ileocolonoscopia incompleta en 16 (13%), estudio de extensión en intestino delgado en 15 (12%) y finalmente la sospecha de EC complicada en 8 pacientes (6%). La realización de la enteroRM influyó en el tratamiento en 83 (55,3%) pacientes. Dieciséis (10,7%) pacientes con inmunosupresores, 41 pacientes (27,3%) iniciaron o cambiaron de anti-TNFα, en 15 pacientes (10%) se indicó la cirugía y en 3 pacientes (2%) la enteroRM indujo a cambiar de terapia combinada a monoterapia. La enteroRM en la sospecha de EC influyó menos en las decisiones clínicas que cuando se indicaba por seguimiento (p < 0,05). Conclusiones: la enteroRM ayudó a decidir en más de la mitad de los pacientes, en especial en el seguimiento clínico para el manejo de las terapias biológicas y la indicación de la cirugía. Fue menos útil cuando la indicación fue la sospecha de EC.

Relationship between quality of life and clinical status in patients with gastrointestinal cancer

Background: previous studies with patients having cancer have shown that quality of life scores depend on the clinical stage of the disease (the more advanced the disease, the worst quality of life). Methods: in a prospective study we studied 317 patients with gastric or colorectal cancer attending the Instituto Nacional de Cancerología between 2010 and 2011; the patients completed the EORTC QLQ-C30 before receiving treatment. This instrument measures quality of life in 15 domains. Scores of each domain were compared according to tumor stage. Differential Item Functioning was measured across neoplasm staging and tumor localization. Results: 145 patients (45.7%) were diagnosed with colorectal cancer. According to clinical staging, differences in quality of life scores were observed in 4 of 15 domains (physical and social functioning, anorexia). Most of the differences in quality of life domains depended on tumor localization (patients with colorectal cancer had the highest scores in quality of life) and sex (women reported better scores). These differences seemed to be independent of item properties. The construct was more adequately measured with items that explore the construct using a general approach. Conclusion: in this group of patients with colorectal and gastric cancer quality of life scores were more related with tumor localization than with clinical stage.

Introducción: la calidad de vida de pacientes con cáncer varía según el estadio clínico de la enfermedad, siendo peor en estadios avanzados. Métodos: estudio prospectivo en el que se evaluaron 317 pacientes con cáncer colorrectal o gástrico que asistieron al Instituto Nacional de Cancerología durante los años 2010 y 2011 y que no habían iniciado tratamiento. Se utilizó el cuestionario EORTC QLQ C-30, un instrumento que mide calidad de vida en 15 dominios. Se compararon las puntuaciones para cada dominio según el estadio tumoral. Adicionalmente se realizó un análisis de funcionamiento diferencial de ítems para establecer si las diferencias encontradas correspondían a propiedades del instrumento o de la muestra de pacientes. Resultados: 145 pacientes (45,7%) tuvieron diagnóstico de cáncer de colon. Dependiendo del estadio clínico se encontraron diferencias en los niveles de calidad de vida solo en tres de los 15 dominios (funcionamiento físico, funcionamiento social y anorexia). Las principales diferencias en los dominios del constructo dependieron de la localización del tumor (los pacientes con cáncer colorrectal presentaron mejor calidad de vida) y del sexo (las mujeres reportaron mejor calidad de vida). Las diferencias encontradas no parecieron depender de propiedades de los ítems. Los ítems que exploran el constructo de manera general y no específica fueron los que mejor midieron la calidad de vida en este grupo de pacientes. Conclusión: en este grupo de pacientes con cáncer gástrico y colorrectal los niveles de calidad de vida se relacionaron más con la localización del tumor que con el estadio clínico.

Influence of genetics on tumoral pathologies: The example of the adenocarcinoma arising in Barrett's esophagus

Barrett's esophagus (BE) refers to an abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. About 10% of patients with symptomatic gastroesophageal reflux disease (GERD) have BE. In some cases, BE develops as an advanced stage of erosive esophagitis. The risk of esophageal cancer appears to be increased in patients with BE. The only way to diagnose BE is by endoscopy and histology. Some studies suggest that intensive treatment of Barrett's esophagus with effective acid suppression can reduce the amount of abnormal lining in the esophagus. It is not clear whether such treatment also prevents esophageal cancer. Generally, the cancer starts out as carcinoma of the esophagus on the surface, and then invades the surrounding tissue. Surgery offers the best chance of long-term survival. There are many events that occur in Barrett's esophagus that lead to the development of cancer and most of them appear to occur early, before high-grade dysplasia or cancer develops. No one knows what the late events are and how cells acquire the ability to leave their normal growth boundaries. It is now widely accepted that the development of most cancers is due to something called genomic or genetic instability. The aim of this review is to show BE pathology in its progression to cancer looking for new biomarkers to distinguish between BE-dysplasia (low grade and high grade)- adenocarcinoma (ADC) and to characterize the ADC, giving more hope for its treatment.

Fatal acute pancreatitis following sclerosis of a bleeding duodenal ulcer complicated by an intramural duodenal hematoma

Successful endoscopic mesh removal after laparoscopic Nissen fundoplication

Should the host reaction to anisakiasis influence the treatment?: Different clinical presentations in two cases

Gastrointestinal anisakiasis is a parasitic infection occurring in people that consume raw or inadequately cooked fish or squid. It is frequently characterized by severe epigastric pain, nausea and vomiting caused by the penetration of the larvae into the gastric wall. Acute gastric anisakiasis with severe chest discomfort is rarely reported in Italy. On the other hand, gastro-allergic anisakiasis with rash, urticaria and isolated angioedema or anaphylaxis is a clinical entity that has been described only recently. Also, if patients usually develop symptoms within 12 hours after raw seafood ingestion, not always endoscopic exploration can promptly identify the Anisakis larvae. Moreover, some authors consider the prevailing allergic reaction as a natural and effective defense against the parasitic attack. We report two cases of peculiar manifestations of anisakiasis in both acute and chronic forms (severe chest discomfort and anaphylactoid reaction).

Submucosal lesions of the gastrointestinal tract

Incarcerated Spigelian hernia: Diagnosis by computed tomography

Subtotal distal pancreatectomy for metachronous metastatic renal clear cell carcinoma

Upper gastrointestinal bleeding secondary to renal tumor

Beyond Heyde's syndrome

Recurrent cholestasis by amoxicillin-clavulanic acid: The importance of a correct diagnosis of hepatotoxicity

Liver toxicity due to olanzapine

Tomás Charlo Dupont (1930-2012)