1,721,156 research outputs found
The risk of non Hodgkin lymphoma (NHL) in patients with celiac disease (cd): preliminary results of the italian multicentre case control study.
No full text
HLA-DQ and celiac disease: a novel risk gradient for predisposed subjects
Full text linkBACKGROUND. 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
World perspective and celiac disease epidemiology
No full textIn Europe and the USA, the mean frequency of celiac disease (CD) in the general population is approximately 1%, with some regional differences, the reasons for which remain elusive. A similar disease prevalence has been found in other countries mostly populated by individuals of European origin, e.g. Australia and Argentina. In Western countries, a true rise in overall CD prevalence of CD has been documented. CD is a common disorder in North Africa, the Middle East and India; however, the diagnostic rate is low in these countries due to low availability of diagnostic facilities and poor disease awareness. The highest CD prevalence in the world (5.6%) has been described in an African population originally living in Western Sahara, the Saharawi, of Arab-Berber origin. The reasons for this high CD frequency are unclear but could be primarily related to recent dietary changes and genetic factors, given the high level of consanguinity of this population. Further studies are needed to quantify the incidence of the celiac condition in apparently 'celiac-free' areas such as Sub-Saharan Africa and the Far East. In many developing countries, the frequency of CD is likely to increase in the near future given the diffuse tendency to adopt Western, gluten-rich dietary patterns. As most cases currently escape diagnosis all over the world, an effort should be made to increase the awareness of CD polymorphism. A cost-effective case-finding policy and new strategies of mass CD screening could significantly reduce the morbidity and mortality associated with untreated disease. The current high prevalence of CD is just the last link in a chain of events started about 10,000 years ago after wheat domestication and diffusion from the Middle East. We hypothesize different mechanisms to explain the so-called evolutionary celiac paradox of co-localization of gluten consumption and HLA CD-predisposing genotypes
Coeliac disease
No full textCoeliac disease is an autoimmune disorder that primarily affects the small intestine, and is caused by the ingestion of gluten in genetically susceptible individuals. Prevalence in the general population ranges from 0·5% to 2%, with an average of about 1%. The development of the coeliac enteropathy depends on a complex immune response to gluten proteins, including both adaptive and innate mechanisms. Clinical presentation of coeliac disease is highly variable and includes classical and non-classical gastrointestinal symptoms, extraintestinal manifestations, and subclinical cases. The disease is associated with a risk of complications, such as osteoporosis and intestinal lymphoma. Diagnosis of coeliac disease requires a positive serology (IgA anti-transglutaminase 2 and anti-endomysial antibodies) and villous atrophy on small-intestinal biopsy. Treatment involves a gluten-free diet; however, owing to the high psychosocial burden of such a diet, research into alternative pharmacological treatments is currently very active
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
Preliminary results of a morphometric study on intestinal mucosal biopsies for studying gluten toxicity in coeliac disease
No full textabstracts XVII National Congress of SIGEN
- …
