Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0007570 (celiac disease)
 13,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Celiac disease (CD) treatment requires a gluten-free diet (GFD), although alternative approaches have been proposed. Modification of gliadin peptides using microbial transglutaminase (mTG) inhibits their ability to induce immune response in vitro. Our aim was to evaluate the safety of mTG-modified wheat flour ingestion in CD patients. Twenty-one CD patients in remission were randomized to receive mTG-modified (n=11) or unmodified (n=10) wheat flour rusks, in double-blind fashion. Monthly, patients completed a symptom questionnaire. Serum anti-tTG, EMA and creatinine levels were monitored. At baseline and after 90days, serum anti-actin antibodies (AAA) were measured and upper endoscopy was performed. Data were analyzed by non-parametric tests. 7/11 patients eating modified rusks and 7/10 patients receiving unmodified rusks completed the study. At baseline, all patients showed negative serum anti-tTG and EMA results. At the end, 2/7 (28.6%) patients ingesting modified and 4/7 (57.1%) patients taking unmodified rusks presented positive serum anti-tTG and EMA results. Creatinine results were unmodified. Moreover, 1/7 (14.3%) patients ingesting modified and 4/7 (57.1%) patients taking unmodified rusks presented villous atrophy. In patients who received unmodified rusks, the AAA levels increased significantly and duodenal anti-tTG levels appeared higher than those measured in patients who ate modified rusks. Abdominal swelling, bloating and nausea were more severe in patients ingesting unmodified rusks than those taking modified rusks. Our results may support larger clinical trials to confirm the enzymatic treatment of wheat flour as an alternative to GFD. Clinicaltrials.gov registration no: NCT02472119.
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PMID:The effects of modified versus unmodified wheat gluten administration in patients with celiac disease. 2834 8

Celiac disease-a chronic inflammatory disease of the intestine-is triggered by gluten or associated protein consumption.The aim of our study was to assess the sensitivity, specificity of the combined anti-transglutaminase 2 (TG2)/deamidated gliadin peptide antibodies (DGP), and antiendomisium antibodies (EMA), to determine the distribution of HLA-DQ2/DQ8 for the 140 tested patients, and also to evaluate the clinical and laboratory characteristics of patients admitted with the suspicion of celiac disease (CD). Children included in the study were divided into: group 1, patients with confirmed CD; group 2, patients with "potential' CD; group 3, control group, patients without CD. We assessed the standard laboratory data, the level of TG2/DGP and EMA antibodies, as well as the distribution of HLA molecules in the selected patients. Histopathological examination was considered the criterion standard for diagnosis in most cases.The sensitivity of TG2/DGP was 85% and the specificity 92%. EMA showed a sensitivity of 82% and a specificity of 98%. The vast majority of patients diagnosed with CD were either HLA-DQ2.5 (encoded by DQA1*05 & DQB1*02) positive (87.5%) or HLA-DQ8 (encoded by DQB1*03:02) positive (12.5%). One patient showed a positivity only for HLA-DQ2.2 (encoded by DQA1*02 & B1*02).Our study showed that the genetic risk for CD was present in more than one-third of the cases without a confirmed diagnosis of CD. Therefore, the awareness of genetic susceptibility for CD is essential because of the fact that these individuals can develop the disease at any point of their lives. The sensitivity of TG2/DGP and EMA were very similar, whereas EMA presented a higher specificity as that of TG2/DGP.
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PMID:Clinical and biological correlations in celiac disease in children: the prospective single experience of a romanian tertiary center: A case-control study (Strobe-Compliant study). 2851 13

This prospective study investigates whether measurement of plasma intestinal-fatty acid binding protein (I-FABP), a sensitive marker for small intestinal epithelial damage, improves non-invasive diagnosing of celiac disease (CD), and whether I-FABP levels are useful to evaluate mucosal healing in patients on a gluten-free diet (GFD). Ninety children with elevated tTG-IgA titres and HLA-DQ2/DQ8 positivity were included (study group). Duodenal biopsies were taken, except in those fulfilling the ESPGHAN criteria. Plasma I-FABP levels and tTG-IgA titres were assessed sequentially during six months of follow-up. Eighty children with normal tTG-IgA titres served as control group. In 61/90 (67.8%) of the children in the study group an increased I-FABP level was found; in all these children CD diagnosis was confirmed. Interestingly, in 14/30 (46.7%) children with slightly elevated tTG-IgA titres (<10x upper limit of normal), an increased I-FABP level was found. In all these children the diagnosis of CD was confirmed histologically. After gluten elimination for six weeks I-FABP levels had decreased towards levels in the control group. Measurement of plasma I-FABP, in addition to tTG-IgA, EMA-IgA and HLAtyping, enables non-invasive diagnosing of CD in a substantial number of children, and might therefore be of value in the diagnostic approach of CD.
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PMID:Progress towards non-invasive diagnosis and follow-up of celiac disease in children; a prospective multicentre study to the usefulness of plasma I-FABP. 2881 90

Celiac disease (CD) is a chronic small intestinal enteropathy triggered by gluten in genetically predisposed individuals. The susceptibility is strongly associated with certain human leukocyte antigen (HLA)-genes, but efforts are being made in trying to find non-HLA genes that are predictive for the disease. The criteria for diagnosing CD were previously based primarily on histologic evaluation of small intestinal biopsies, but nowadays are often based only on blood tests and symptoms. In this context, we elucidated the accuracy of three diagnostic indicators for CD, alone or in combination. Genetic analyses of HLA-type and nine single nucleotide polymorphisms (SNPs) known to be associated with CD were performed in 177 children previously investigated for the suspicion of CD. CD was confirmed in 109 children, while 68 were considered non-celiacs. The antibodies and urinary nitrite/nitrate concentrations of all of them were measured. The combinations of all the variables used in the study would classify 93% of the study population in the correct diagnostic group. The single best predictors were antibodies (i.e., anti-endomysium immunoglobulin A (IgA) (EMA) and transglutaminase IgA (TGA)), followed by HLA-type and nitric oxide (NO)-metabolites. The nine SNPs used did not contribute to the right diagnoses. Although our control group consisted of children with mostly gastrointestinal symptoms, the presented methodology predicted a correct classification in more than 90% of the cases.
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PMID:Evaluation of Multiple Diagnostic Indicators in Comparison to the Intestinal Biopsy as the Golden Standard in Diagnosing Celiac Disease in Children. 2908 83

Coeliac disease (CD) develops in genetically susceptible individuals who, in response to unclear environmental triggers, develop an immune response triggered by gluten ingestion. It is now recognised as a global disease affecting about 0.7% of the world's population. The clinical presentation ranges from malabsorption to asymptomatic individuals diagnosed by screening high-risk groups. Diagnosis requires the demonstration of small intestinal villous atrophy in the presence of circulating coeliac auto-antibodies and/or an unequivocal response to a gluten-free diet (GFD). Recent guidelines suggest that, in a subset of children, duodenal biopsies can be avoided in the presence of strict symptomatic and serological criteria. While the majority of patients respond to a GFD, up to 20% of patients with CD have persistent or recurrent symptoms. There are several aetiologies for residual or new symptoms in a patient with CD on a GFD, with inadvertent exposure to gluten being the most common. Following a GFD can be challenging for patients with CD and understanding the barriers/challenges faced by patients in maintaining a GFD is crucial for compliance. Abbreviations: AGA: anti-gliadin antibodies; Anti-DGP-ab: anti-deamidated gliadin peptide antibodies; Anti-tTG-ab: anti-tissue transglutaminase antibodies; ATD: auto-immune thyroid disorders; BMD: bone mineral density; CD: coeliac disease; DH: dermatitis herpetiformis; EMA: anti-endomysial antibodies; FDR: first-degree relatives; GFD: gluten-free diet; HbA1c: haemoglobin A1c; HLA: human leucocyte antigen; IBS: irritable bowel syndrome; LMIC: low- and middle-income countries; NPV: negative predictive value; NRCD: non-responsive coeliac disease; POCT: point-of-care tests; SDR: second-degree relatives; SIBO: small intestinal bacterial overgrowth; T1DM: type 1 diabetes mellitus; ULN: upper limit of normal.
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PMID:Coeliac disease. 3009 30

Background The coexistence of celiac disease (CD) and obesity/overweight is not unusual. Objective We investigate the prevalence and clinical presentation of CD, detected by screening, among children with excessive weight gain. Methods We enrolled 200 children referred for overweight/obesity to our outpatient clinic. Medical history during pregnancy and childhood and lifestyle variables were recorded. Patients were screened for CD with total immunoglobulin A (IgA), IgA anti-transglutaminase (tTG-IgA) and IgA anti-endomysial antibodies (EMA-IgA). In subjects with positive autoantibodies, esophagogastroduodenoscopy (EGDS) was performed and genetic testing for HLA DQ2 and/or DQ8 haplotypes was tested. Results CD positive antibodies (tTg-IgA and EMA-IgA) were detected in eight patients (4%); in all subjects CD diagnosis was confirmed by HLA-DQ2 and/or DQ8 compatibility and EGDS. No association between CD and medical history during pregnancy and childhood or lifestyle variables was noted; however, a dietary difference was identified with those testing positive for CD also reporting a lower weekly consumption of fruits and vegetables (p=0.04). Headache was reported more frequently in patients with than without CD (p=0.04). Familiar positivity for autoimmune diseases was revealed in CD patients (p=0.01). Conclusion CD should be considered in children with excessive weight gain. Familial predisposition to other autoimmune diseases may represent a risk factor for development of CD. Even though the relationship between headache and CD is not well defined, the patients with headache of unknown origin should be screened for CD.
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PMID:Screening for celiac disease among children with overweight and obesity: toward exploring celiac iceberg. 3265 77


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