Food groups associated with immune-mediated inflammatory diseases: a Mendelian randomization and disease severity study.

Background/objectives: Immune-mediated inflammatory diseases (IMIDs) are prevalent diseases. There is, however, a lack of understanding of the link between diet and IMIDs, how much dietary patterns vary between them and if there are food groups associated with a worsening of the disease.

Subjects/methods: To answer these questions we analyzed a nation-wide cohort of n = 11,308 patients from six prevalent IMIDs and 2050 healthy controls.

Expression patterns common and unique to ulcerative colitis and celiac disease.

Autoimmune diseases like celiac disease (CeD) and ulcerative colitis (UC) show a common genetic background defined by the existence of shared susceptibility loci. We aimed to go deeper into this common genetic background through performing a cross-disease study based on gene expression. We measured the expression of 21 genes located in 13 CeD-UC susceptibility regions, and 10 genes in five CeD risk regions.

Response to Infliximab in Crohn's Disease: Genetic Analysis Supporting Expression Profile.

Substantial proportion of Crohn's disease (CD) patients shows no response or a limited response to treatment with infliximab (IFX) and to identify biomarkers of response would be of great clinical and economic benefit. The expression profile of five genes (S100A8-S100A9, G0S2, TNFAIP6, and IL11) reportedly predicted response to IFX and we aimed at investigating their etiologic role through genetic association analysis. Patients with active CD (350) who received at least three induction doses of IFX were included and classified according to IFX response.

Imaging Crohn disease: MR enterography.

Magnetic resonance enterography in Crohn disease management has been rapidly growing in importance during recent years. Being familiar to this technique is essential for radiologists and also, to some extent, for gastroenterologists. Our aim is to study and describe the imaging findings in magnetic resonance enterography in Crohn disease to develop a comprehensive and useful review article and imaging atlas.

Delphi consensus statement: Quality Indicators for Inflammatory Bowel Disease Comprehensive Care Units.

Background And Aims: While it is commonly accepted that Inflammatory bowel disease (IBD) Comprehensive Care Units (ICCUs) facilitate the delivery of quality care to Crohn's disease and ulcerative colitis patients, it remains unclear how an ICCU should be defined or evaluated. The aim of the present study was to develop a comprehensive set of Quality Indicators (QIs) of structure, process, and outcomes for defining and evaluating an ICCU.

Methods: A Delphi consensus-based approach with a standardized three-step process was used to identify a core set of QIs.

A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.

Objective: Genome-wide association studies (GWAS) have identified multiple risk loci for Crohn's disease (CD). However, the cumulative risk exerted by these loci is low, and the likelihood that additional, as-yet undiscovered loci contribute to the risk of CD is very high. We performed a GWAS on a southern European population to identify new CD risk loci.

Methotrexate in inflammatory bowel disease: a multicenter retrospective study focused on long-term efficacy and safety. The Madrid experience.

Background: Methotrexate is useful in inflammatory bowel disease (IBD), but its role is secondary because of its limited experience and a supposedly unfavorable safety profile.

Aim: To describe the efficacy and safety of methotrexate in a long-term real clinical practice.

Methods: Retrospectively reviewed records of IBD patients treated with methotrexate in eight hospitals of Madrid (Spain).

Adalimumab reversed a severe lymphopenia in a patient with Crohn's disease.

Patients with Crohn's disease are frequently found to have low peripheral lymphocyte counts. Lymphopenia has been linked to disease activity, the effects of therapy and the presence of an abnormal T regulatory (T(reg)) function. We present a patient with Crohn's disease and a severe total and CD4 lymphopenia that did not resolve after discontinuation of immunosuppressive treatment and resective surgery.

Analysis of the influence of two CD24 genetic variants in Crohn's disease and ulcerative colitis.

The aim of this study was to evaluate the possible implication of CD24 gene in the genetic predisposition to inflammatory bowel disease (IBD). Our study population consisted of 1321 female Spanish individuals (369 Crohn's disease [CD] patients, 323 ulcerative colitis [UC] patients, and 629 healthy matched controls). Two putative functional polymorphisms, a C to T coding polymorphism (rs8734) and a TG deletion in the 3' untranslated region (rs3838646), were used as CD24 genetic markers and genotyped using a Taqman 5' allelic discrimination assay.

Differential association of two PTPN22 coding variants with Crohn's disease and ulcerative colitis.

Background: The PTPN22 gene is an important risk factor for human autoimmunity. The aim of this study was to evaluate for the first time the role of the R263Q PTPN22 polymorphism in ulcerative colitis (UC) and Crohn's disease (CD), and to reevaluate the association of the R620W PTPN22 polymorphism with both diseases.

Methods: A total of 1677 UC patients, 1903 CD patients, and 3111 healthy controls from an initial case-control set of Spanish Caucasian ancestry and two independent sample sets of European ancestry (Dutch and New Zealand) were included in the study.

Long-term durability of infliximab treatment in Crohn's disease and efficacy of dose "escalation" in patients losing response.

Background: The efficacy of infliximab therapy in patients with Crohn's disease (CD) is unknown beyond 12 months. For patients who lose their initial response, consideration can be given to dose "escalation" to regain therapeutic benefit.

Aim: Our primary goal was to evaluate the long-term durability of maintenance infliximab treatment.

Role of ATG16L1 Thr300Ala polymorphism in inflammatory bowel disease: a Study in the Spanish population and a meta-analysis.

Background: Thr300Ala polymorphism in ATG16L1 was reported as a susceptibility factor to Crohn's disease (CD). Inconsistently replicated associations with ulcerative colitis (UC) and specifically with ileal CD were also reported. Our aims were: to replicate the ATG16L1 Thr300Ala association with inflammatory bowel disease (IBD) in the Spanish population, to perform a meta-analysis to determine the risk conferred to the different IBD subgroups, and to test for the interaction with CARD15 or IL23R risk loci.

Novel association of the interleukin 2-interleukin 21 region with inflammatory bowel disease.

Objectives: Genome-wide association studies have reported the role of the interleukin (IL) 2-IL21 chromosomal region at 4q27 in several autoimmune conditions. Mice deficient in IL-2 develop a disease with clinical and histological similarity to ulcerative colitis (UC) in humans. Modest evidence of linkage with UC was tentatively proposed for the IL2 gene more than a decade ago.

Specific association of a CLEC16A/KIAA0350 polymorphism with NOD2/CARD15(-) Crohn's disease patients.

Independent genome-wide association studies highlighted the function of CLEC16A/KIAA0350 polymorphisms modifying the risk to either multiple sclerosis (rs6498169) or type 1 diabetes (rs2903692). This C-type lectin gene maps to a linkage disequilibrium block at 16p13 and a functional role of this gene could be envisaged for other immune-related conditions, such as inflammatory bowel disease (IBD). The present study, aimed at investigating the association of those two polymorphisms with IBD, included 720 IBD patients and 550 ethnically matched healthy controls.

Mycobacterium avium subspecies paratuberculosis and its relationship with Crohn's disease.

The hypothesis postulating that Mycobacterium avium paratuberculosis (MAP) is the cause of Crohn's disease (CD) has been circulating for many years. Advances in molecular techniques, such as polymerase chain reaction and culture methods, have enabled researchers to demonstrate that there is an association between MAP and CD. Recently, genome-wide association studies have identified novel susceptibility genes for CD, which are critical for generation of an adaptive immune response that is protective against intracellular pathogens, including M.

Open-label infliximab therapy in ulcerative colitis: a multicenter survey of results and predictors of response.

Background/aims: Results of randomized controlled trials showing efficacy of infliximab in ulcerative colitis (UC) should be confirmed in clinical practice. We aimed to evaluate the efficacy and safety of infliximab in UC patients of the Madrid area, looking for clinical predictors of response.

Methodology: Multicenter retrospective survey of all UC patients treated with infliximab in the region of Madrid (Spain).

[Influence of mutations of proteinase-activated receptors F2R/PAR1 and F2RL1/PAR2 on inflammatory bowel disease].

Background And Objective: Inflammatory bowel disease (IBD) is a polygenic complex trait. The expression and presence in biopsiae from IBD patients points to a putative role of these genes in genetic susceptibility to IBD. This is the first association study on these genes in relation with IBD.

Open-label infliximab therapy in Crohn's disease: a long-term multicenter study of efficacy, safety and predictors of response.

Background: Efficacy of infliximab in Crohn's disease (CD) showed by randomized controlled trials must be confirmed in clinical practice. We aimed to evaluate efficacy and safety of infliximab in CD patients of the Madrid area, looking for clinical predictors of response.

Methods: Multicenter retrospective survey of all CD patients treated with infliximab in 8 University hospitals of the Madrid area (Spain) with a minimum follow up of 14 wks.

Polymorphisms in the selenoprotein S gene: lack of association with autoimmune inflammatory diseases.

Background: Selenoprotein S (SelS) protects the functional integrity of the endoplasmic reticulum against the deleterious effects of metabolic stress. SEPS1/SelS polymorphisms have been involved in the increased release of pro-inflammatory cytokines interleukin (IL)-1beta, tumor necrosis factor (TNF)-alpha and IL-6 in macrophages. We aimed at investigating the role of the SEPS1 variants previously associated with higher plasma levels of these cytokines and of the SEPS1 haplotypes in the susceptibility to develop immune-mediated diseases characterized by an inflammatory component.

[Treatment of neuropathic pain in HIV-infected patients].

Neuropathic pain of various etiologies is a frequent symptom in HIV-infected patients that is underdiagnosed and inadequately treated. It requires a multidisciplinary pain approach based on psychosocial factors, diet and exercise, etiologic treatment whenever possible, symptomatic medical treatment, and sometimes, interventional techniques. Medical treatment should be individualized and introduced gradually, with a mind to potential drug interactions.

IL23R and IL12B polymorphisms in Spanish IBD patients: no evidence of interaction.

Background: Recent genomic surveys have identified IL23R and IL12B as susceptibility loci for inflammatory bowel disease (IBD). Our aim in the present study was to ascertain whether the IL23R and IL12B associations with IBD are also observed in our population, and to analyze possible genetic interactions between polymorphisms at IL12B and IL23R, ligand and receptor, respectively.

Methods: In all, 707 IBD patients (344 with Crohn's disease and 363 with ulcerative colitis) and 547 healthy controls from the same ethnic origin (Caucasian Spaniards) were included in the present study.

CD209 in inflammatory bowel disease: a case-control study in the Spanish population.

Background: The etiology of Ulcerative Colitis (UC) and Crohn's Disease (CD), considered together as Inflammatory Bowel Diseases (IBD), involves environmental and genetic factors. Although some genes are already known, the genetics underlying these diseases is complex and new candidates are continuously emerging. The CD209 gene is located in a region linked previously to IBD and a CD209 functional polymorphism (rs4804803) has been associated to other inflammatory conditions.

Gender-specific association of the PTPN22 C1858T polymorphism with achalasia.

The protein tyrosine phosphatase N22 (PTPN22) gene encodes a lymphoid-specific phosphatase (LYP), a downregulator of T-cell activation. Because a functional PTPN22 polymorphism, C1858T, has been found to be associated with different autoimmune diseases, we aimed to elucidate the role of this variant in predisposition to achalasia. We performed a case-control study with 231 nonrelated Spanish patients of white ethnicity diagnosed with achalasia and in 554 healthy control subjects, all genotyped for PTPN22 C1858T using TaqMan chemistry.