335 research outputs found
The puzzling relationship between human leukocyte antigen HLA genes and celiac disease
No full textThe human leukocyte antigen (HLA) system, i.e., the major histocompatibility complex (MHC) in humans, plays a pivotal role in the antigen presentation of intracellular and extracellular peptides and the regulation of innate and adaptive immune responses
HLA-DQ and celiac disease: a novel risk gradient for predisposed subjects
No full textBACKGROUND. Celiac disease (CeD) is an immune-mediated systemic disorder elicited by gliadin, a prolamine found in wheat and related proteins, occurring in genetically predisposed individuals, carrying HLA-DQ2 and/or DQ8. Several heterodimers have been associated with CeD: the HLA-DQ2.5, occurring in approximately 90% of CeD patients, is encoded by the DQB1*02 and DQA1*05 alleles both in cis and in trans; the HLA-DQ2.2 heterodimer, encoded by the DQB1*02 and DQA1*02 allele; and the HLA- DQ8 heterodimer, encoded by the DQB1*03:02 and DQA1*03 alleles. AIMS. We aimed: 1) To characterize HLA polymorphisms; 2) to confirm the association between HLA class II genes with CeD; 3) to assess their role in CeD genetic susceptibility by re-defining the current risk pyramid of genetically predisposed individuals. METHODS. We included celiac children diagnosed based on European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) criteria and controls. The control group included healthy Italian individuals and affected family-based controls (AF-BAC). All individuals were typed for DRB1, DQA1, and DQB1 genes by sequence-specific primer–polymerase chain reaction (SSP-PCR). Disease risks are expressed as 1:N, where N is the number of individuals among which one patient is present. Considering a disease prevalence of 1:100 in the general population, for each HLA-DQ category, N is calculated as a percentage of controls with that particular HLA-DQ status multiplied by 100 and divided by percentage of patients with the same DQ typing. RESULTS: We included 778 CeD patients (M:277= F:511), and 551 controls (292 healthy Italian individuals and 259 affected family-based controls). In conclusion, the new risk pyramid shows an increased risk for all haplotypes; it is reasonable to assert that there is an increased CeD risk in presence of DQ*B102 either as a single copy or combination with other alleles
Diagnostic Accuracy of IgA Anti-Transglutaminase and IgG Anti-Deamidated Gliadin for Diagnosis of Celiac Disease in Children under Two Years of Age: A Systematic Review and Meta-Analysis
No full textThe risk of non Hodgkin lymphoma (NHL) in patients with celiac disease (cd): preliminary results of the italian multicentre case control study.
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The Low FODMAP Diet: Many Question Marks for a Catchy Acronym
No full textFODMAP, “Fermentable Oligo-, Di- and Mono-saccharides And Polyols”, is a heterogeneous group of highly fermentable but poorly absorbed short-chain carbohydrates and polyols. Dietary FODMAPs might exacerbate intestinal symptoms by increasing small intestinal water volume, colonic gas production, and intestinal motility. In recent years the low-FODMAP diet for treatment of irritable bowel syndrome (IBS) has gained increasing popularity. In the present review we aim to summarize the physiological, clinical, and nutritional issues, suggesting caution in the prolonged use of this dietary treatment on the basis of the existing literature. The criteria for inclusion in the FODMAPs list are not fully defined. Although the low-FODMAP diet can have a positive impact on the symptoms of IBS, particularly bloating and diarrhea, the quality of the evidence is lower than optimal, due to frequent methodological flaws, particularly lack of a proper control group and/or lack of blinding. In particular, it remains to be proven whether this regimen is superior to conventional IBS diets. The drastic reduction of FODMAP intake has physiological consequences, e.g., on the intestinal microbiome and colonocyte metabolism, which are still poorly understood. A low-FODMAP diet imposes an important restriction of dietary choices due to the elimination of some staple foods, such as wheat derivatives, lactose-containing dairy products, many vegetables and pulses, and several types of fruits. For this reason, patients may be at risk of reduced intake of fiber, calcium, iron, zinc, folate, B and D vitamins, and natural antioxidants. The nutritional risk of the low-FODMAP diet may be higher in persons with limited access to the expensive, alternative dietary items included in the low-FODMAP diet
The Clinical Spectrum of Inflammatory Bowel Disease Associated With Specific Genetic Syndromes: Two Novel Pediatric Cases and a Systematic Review
No full textBackground and Aims: Inflammatory bowel disease (IBD) is a typical polygenic disorder and less frequently shows a monogenic origin. Furthermore, IBD can originate in the context of specific genetic syndromes associated with a risk of autoimmune disorders. We aimed to systematically evaluate the prevalence of IBD in specific genetic syndromes and to review the clinical characteristics of the published cases. Methods: According to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, studies describing patients with IBD and a genetic syndrome and/or studies indicating the prevalence or incidence of IBD in subjects with a genetic syndrome were included. Results: Forty-six studies describing a total of 67 cases of IBD in six genetic syndromes and two personally assessed unpublished cases were included in the review. The majority of cases were associated with Turner syndrome (TS) (38 cases), Down syndrome (DS) (18 cases) and neurofibromatosis type 1 (NF1) (8 cases). Sporadic cases were described in DiGeorge syndrome (2), Kabuki syndrome (2), and Williams syndrome (1). The prevalence of IBD ranged from 0.67 to 4% in TS and from 0.2 to 1.57% in DS. The incidence of IBD was increased in TS and DS compared to the general population. Eight cases of IBD in TS had a severe/lethal course, many of which described before the year 2000. Two IBD cases in DS were particularly severe. Conclusion: Evidence of a greater prevalence of IBD is accumulating in TS, DS, and NF1. Management of IBD in patients with these genetic conditions should consider the presence of comorbidities and possible drug toxicities. Systematic Review Registration: PROSPERO, identifier: CRD42021249820
Article Health-Related Quality of Life in Children with Celiac Disease: A Study Based on the Critical Incident Technique
No full textwww.mdpi.com/journal/nutrient
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