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Schümann, Michael; Lebenheim, Lydia

doi:10.1055/s-0042-112099

Cited by 5 publications

(3 citation statements)

References 3 publications

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“…Additional autoimmune diseases co-existed in both subtypes with some individuals suffering even from more than 1 additional autoimmune disease, highlighting the autoimmune pathogenesis of both RCD diseases [25]. RCD type II patients had a more severe course regarding malabsorption, which is also in agreement with the literature.…”

Section: Comparing the Subtypes Rcd-i And -Iisupporting

confidence: 88%

Results from the German registry for refractory celiac disease

et al. 2021

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AbtractRefractory celiac disease (RCD) refers to a rare subgroup of patients with celiac disease who show clinical signs of malabsorption despite a gluten-free diet. RCD is divided into an autoimmune phenotype (RCD type I) and pre-lymphoma (RCD type II). To reflect the clinical reality in managing this disease in Germany, a national register was established based on a questionnaire developed specifically for this purpose. Between 2014 and 2020, a total of 53 patients were registered. The diagnosis of RCD was confirmed in 46 cases (87%). This included 27 patients (59%) with RCD type I and 19 patients (41%) with RCD type II. A wide range of diagnostic and therapeutic measures was used. Therapeutically, budesonide was used in 59% of the RCD patients regardless of the subtype. Nutritional therapy was used in only 5 patients (11%). Overall mortality was 26% (12 patients) with a clear dominance in patients with RCD type II (9 patients, 47%). In summary, RCD needs to become a focus of national guidelines to increase awareness, establish standards, and thus enable the treating physician to make the correct diagnosis in a timely manner. Moreover, we concluded that when treating such patients, contacting a specialized center is recommended to ensure sufficient management.

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Section: Comparing the Subtypes Rcd-i And -Iisupporting

confidence: 88%

Results from the German registry for refractory celiac disease

et al. 2021

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“…Celiac disease (CelD) occurs when a susceptible individual consumes gluten and a T-cell-mediated immune reaction develops in response, resulting in small intestinal inflammation and potentially chronic malabsorption [ 109 ]. Diagnosis typically depends on serology to look for disease-specific antibodies (e.g., anti-tissue transglutaminase IgM antibodies) and duodenal biopsy to look for intraepithelial lymphocytosis, villous atrophy, and crypt hyperplasia [ 110 ].…”

Section: Detection Of Gastrointestinal Illnesses By Vocsmentioning

confidence: 99%

Volatile Organic Compound Assessment as a Screening Tool for Early Detection of Gastrointestinal Diseases

et al. 2023

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Gastrointestinal (GI) diseases have a high prevalence throughout the United States. Screening and diagnostic modalities are often expensive and invasive, and therefore, people do not utilize them effectively. Lack of proper screening and diagnostic assessment may lead to delays in diagnosis, more advanced disease at the time of diagnosis, and higher morbidity and mortality rates. Research on the intestinal microbiome has demonstrated that dysbiosis, or unfavorable alteration of organismal composition, precedes the onset of clinical symptoms for various GI diseases. GI disease diagnostic research has led to a shift towards non-invasive methods for GI screening, including chemical-detection tests that measure changes in volatile organic compounds (VOCs), which are the byproducts of bacterial metabolism that result in the distinct smell of stool. Many of these tools are expensive, immobile benchtop instruments that require highly trained individuals to interpret the results. These attributes make them difficult to implement in clinical settings. Alternatively, electronic noses (E-noses) are relatively cheaper, handheld devices that utilize multi-sensor arrays and pattern recognition technology to analyze VOCs. The purpose of this review is to (1) highlight how dysbiosis impacts intestinal diseases and how VOC metabolites can be utilized to detect alterations in the microbiome, (2) summarize the available VOC analytical platforms that can be used to detect aberrancies in intestinal health, (3) define the current technological advancements and limitations of E-nose technology, and finally, (4) review the literature surrounding several intestinal diseases in which headspace VOCs can be used to detect or predict disease.

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“…CeD is triggered by abnormal activation of the immune system in response to dietary gliadin, a water-insoluble gluten protein found in wheat, rye, and barley ( 6 , 7 ). The commonly practiced clinical intervention is adopting a gluten-free diet (GFD); nevertheless, symptoms in some patients persist even after gluten elimination ( 8 , 9 ). The reliable diagnosis approach for CeD is the histopathological evaluation of small bowel biopsy (SBB), accompanied by the grading of intestinal mucosal lesions based on the pattern of villous atrophy and level of intraepithelial lymphocyte infiltration.…”

Section: Introductionmentioning

confidence: 99%

Genome-Wide Association Study-Guided Exome Rare Variant Burden Analysis Identifies IL1R1 and CD3E as Potential Autoimmunity Risk Genes for Celiac Disease

et al. 2022

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Celiac disease (CeD) is a multifactorial autoimmune enteropathy characterized by the overactivation of the immune system in response to dietary gluten. The molecular etiology of CeD is still not well-understood. Therefore, this study aims to identify potential candidate genes involved in CeD pathogenesis by applying multilayered system biology approaches. Initially, we identified rare coding variants shared between the affected siblings in two rare Arab CeD families by whole-exome sequencing (WES). Then we used the STRING database to construct a protein network of rare variants and genome-wide association study (GWAS) loci to explore their molecular interactions in CeD. Furthermore, the hub genes identified based on network topology parameters were subjected to a series of computational validation analyses like pathway enrichment, gene expression, knockout mouse model, and variant pathogenicity predictions. Our findings have shown the absence of rare variants showing classical Mendelian inheritance in both families. However, interactome analysis of rare WES variants and GWAS loci has identified a total of 11 hub genes. The multidimensional computational analysis of hub genes has prioritized IL1R1 for family A and CD3E for family B as potential genes. These genes were connected to CeD pathogenesis pathways of T-cell selection, cytokine signaling, and adaptive immune response. Future multi-omics studies may uncover the roles of IL1R1 and CD3E in gluten sensitivity. The present investigation lays forth a novel approach integrating next-generation sequencing (NGS) of familial cases, GWAS, and computational analysis for solving the complex genetic architecture of CeD.

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Neues zur Zöliakie

Cited by 5 publications

References 3 publications

Results from the German registry for refractory celiac disease

Results from the German registry for refractory celiac disease

Volatile Organic Compound Assessment as a Screening Tool for Early Detection of Gastrointestinal Diseases

Genome-Wide Association Study-Guided Exome Rare Variant Burden Analysis Identifies IL1R1 and CD3E as Potential Autoimmunity Risk Genes for Celiac Disease

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