Our results showed altered expression of miR-146a, -155, and -122 in the colonic mucosa of children with IBD and in TNF-α-treated colonic epithelial cells. Our data suggest the TNF-α-related involvement of these miRs in the pathogenesis of IBD.

BackgroundCeliac disease, Crohn disease and ulcerative colitis are inflammatory disorders of the gastrointestinal tract with some common genetic, immunological and environmental factors involved in their pathogenesis. Several research shown that patients with celiac disease have increased risk of developing inflammatory bowel disease when compared with that of the general population. The aim of this study is to determine the prevalence of inflammatory bowel disease in our celiac patient cohort over a 15-year-long study period.MethodsTo diagnose celiac disease, serological tests were used, and duodenal biopsy samples were taken to determine the degree of mucosal injury. To set up the diagnosis of inflammatory bowel disease, clinical parameters, imaging techniques, colonoscopy histology were applied. DEXA for measuring bone mineral density was performed on every patient.ResultsIn our material, 8/245 (3,2 %) coeliac disease patients presented inflammatory bowel disease (four males, mean age 37, range 22–67), 6/8 Crohn’s disease, and 2/8 ulcerative colitis. In 7/8 patients the diagnosis of coeliac disease was made first and inflammatory bowel disease was identified during follow-up. The average time period during the set-up of the two diagnosis was 10,7 years. Coeliac disease serology was positive in all cases. The distribution of histology results according to Marsh classification: 1/8 M1, 2/8 M2, 3/8 M3a, 2/8 M3b. The distribution according to the Montreal classification: 4/6 Crohn’s disease patients are B1, 2/6 Crohn’s disease patients are B2, 2/2 ulcerative colitis patients are S2. Normal bone mineral density was detected in 2/8 case, osteopenia in 4/8 and osteoporosis in 2/8 patients.ConclusionsWithin our cohort of patients with coeliac disease, inflammatory bowel disease was significantly more common (3,2 %) than in the general population.

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Introduction and objectives: coeliac disease (CD) and its cutaneous manifestation, dermatitis herpetiformis are both (DH) glutensensitive diseases. Metabolic bone disease is common among patients with CD, even in asymptomatic forms. Data are scarce about bone density in patients with dermatitis herpetiformis. The aim of our study was to compare bone mineral density (BMD) of celiac and dermatitis herpetiformis patients.Methods: 34 coeliac patients, 53 with dermatitis herpetiformis and 42 healthy controls were studied. The mean age was 38.0 ± 12.1, 32.18 ± 14.95, 35.33 ± 10.41 years in CD, dermatitis herpetiformis, and healthy controls, respectively. Bone mineral density of the lumbar spine, the left femoral neck and radius were measured by dual-energy X-ray absorptiometry. Low bone density, osteopenia and osteoporosis were defined as a body mass density (BMD) T-score between 0 and -1, between -1 and -2.5, and under -2.5, respectively.Results: at lumbar region, consisting of dominantly trabecular compartment, a decreased BMD was detected in 49 % (n = 26) patients with dermatitis herpetiformis, 62 % (n = 21) of CD patients, and 29 % (n = 12) of healthy controls, respectively. Lower BMD were measured at the lumbar region in dermatitis herpetiformis and CD compared to healthy subjects (0.993 ± 0.136 g/cm 2 and 0.880 ± 0.155 g/cm 2 vs. 1.056 ± 0.126 g/cm 2 ; p < 0.01). Density of bones consisting of dominantly cortical compartment (femoral neck) did not differ in dermatitis herpetiformis and healthy subjects.Conclusions: our results show that a low bone mass is also frequent among patients with dermatitis herpetiformis. Bone mineral content in these patients is significantly lower in those parts of the skeleton which contain more trabecular than cortical bone.

This pilot study was devoted to the effect of static magnetic field (SMF)-exposure on erosive gastritis. The randomized, self- and placebo-controlled, double-blind, pilot study included 16 patients of the 2nd Department of Internal Medicine, Semmelweis University diagnosed with erosive gastritis. The instrumental analysis followed a qualitative (pre-intervention) assessment of the symptoms by the patient: lower heartburn (in the ventricle), upper heartburn (in the oesophagus), epigastric pain, regurgitation, bloating and dry cough. Medical diagnosis included a double-line upper panendoscopy followed by 30 min local inhomogeneous SMF-exposure intervention at the lower sternal region over the stomach with peak-to-peak magnetic induction of 3 mT and 30 mT m −1 gradient at the target site. A qualitative (post-intervention) assessment of the same symptoms closed the examination. Sham- or SMF-exposure was used in a double-blind manner. The authors succeeded in justifying the clinically and statistically significant beneficial effect of the SMF- over sham-exposure on the symptoms of erosive gastritis, the average effect of inhibition was 56% by p = 0.001, n = 42 + 96. This pilot study was aimed to encourage gastroenterologists to test local, inhomogeneous SMF-exposure on erosive gastritis patients, so this intervention may become an evidence-based alternative or complementary method in the clinical use especially in cases when conventional therapy options are contraindicated.

Coeliac disease (gluten-sensitive enteropathy, sprue) is a chrocic disorder of the small bowel leading to malabsorption. Aims: charts of all patients with coeliac disease treated at the 2nd Department of Medicine, Semmelweis University were evaluated. Patients and Methods: The authors retrospectively analysed the results of a total of 132 patients with coeliac disease (107 females and 25 males; mean age, 37 years; median, 35 years; range, 19–78 years) atteding the centre between 1999 and 2010. The authors routinely performed the following investigations in patients with suspected coeliac disease: multiple biopsies taken from the duodenum, tissue transglutaminase antibody or endomysial antibody based serology, body mass index calculation, osteodensitometry, evaluation of disorders associated with coeliac disease, family history for coeliac disease, and implementation of family-screening for coeliac disease given the agreement of the index patients. Results: Histological samples were available in 101 cases, and distributions of data according to the Marsh-classification were as follows: negative in 9%, M3a in 27%, M3b in 18%, and M3c in 46% of cases, respectively. Serological results were available in 117 cases. 93/117 (79%) showed seropositivity. Body mass index was calculated for 95 patients, and the mean value for males was 22.4 kg/m² (range, 17–30.3 kg/m²), whereas the mean value for females was 20.7 kg/m² (range, 15.2–30.4 kg/m²). Osteodensitometry was performed in 90 patients; 45 patients (50%) proved normal, 31 (34%) had osteopenia, and 15 (26%) had osteoporosis. Coeliac disease associated disorders were present in 45/132 patients (34%; 6 males). Associated disorders were as follows: 15 dermatitis herpetiformis Duhring, 15 thyroid diseases (5 hypo- and 10 hyperthyroidism), 6 Crohn’s disease, 3 selective IgA-deficiency, 2 endometrioses, 1 systemic lupus erythematosus, 1 myasthenia gravis, and 1 type-1 diabetes mellitus. Sixty-four of the 132 index patients brought 133 first-degree relatives for family screening (serology), where 26/133 (19.5%; 17 females) first-degree relatives proved to suffer from coeliac disease. Conclusions: The age distribution of this cohort demonstrates that coeliac disease can present at any age. Similarly to those of other coeliac disease centres, female predominance is significant. Histology usually showed advanced villous atrophy. Serological results were usually in conjunction with the histological results and proved to be useful for monitoring dietary compliance and for accomplishing family screening. The mean body mass index values were in the normal range confirming that adult patients with coeliac disease are usually not malnourished. The 20% prevalence of coeliac disease among first-degree relatives underlines the necessity of family screening. Orv. Hetil., 2012, 153, 776–785.

A coeliakia genetikai háttere már évtizedek óta intenzív kutatás tárgya. Ennek ellenére a napi gyakorlatban továbbra is csak a HLA-fenotipizálás eredményét használják fel. Időközben a betegségek manifesztációjában egyre több ismeret áll a kutatók rendelkezésére az epigenetikai tényezők szerepéről. Coeliakiában mind a genetika, mind az epigenetika területén még számos kérdés megválaszolatlan. Ezen összefoglaló a jelenlegi ismeretekről kíván keresztmetszeti képet adni, különös tekintettel azok jövőbeni klinikai felhasználására. Orv. Hetil., 2014, 155(3), 83-88.Kulcsszavak: coeliakia, genetika, epigenetika, HLA-típus, SNP, hisztonmodifi káció, DNS-metiláció, mikro-RNS Genetic and epigenetic aspects of celiac diseaseGenetic backround of coeliac disease has been subjects to intensive research since decades. However, only results of HLA phenotyping have been taken over to routine clinical practice. Meanwhile, data on the role of epigenetical factors in the manifestation of diseases have been emerging. In coeliac disease, there are several questions both in the fi elds of genetics and epigenetics yet to be answered. In this review, a cross section of current knowledge on these issues is presented with special interest regarding the future clinical applications.Keywords: celiac disease, genetics, epigenetics, HLA-type, SNP, histon modifi cation, DNA-methylation, miRNA Kocsis, D., Béres, N., Veres, G., Szabó, D., Müller, K. E., Arató, A., Juhász, M. [Genetic and epigenetic aspects of celiac disease]. Orv. Hetil., 2014, 155(3), 83-88. ÖSSZEFOGLALÓ KÖZLEMÉNYRövidítések APC-gén = adenomatosus polyposis coli gén; CTLA-4 = citotoxikus T-lymphocyta-antigén-4; GWAS = genome-wide association studies; HAT = hiszton-acetil-transzferáz; HDAC = hiszton-deacetiláz; HLA = humán leukocyta antigén; IBD = (infl ammatory bowel disease) gyulladásos bélbetegség; MMP = mátrix metalloproteáz; SNP = single nukleotid poliformizmus; TNF = tumornekrózis-faktor; tTG = szöveti transzglutamináz A coeliakia (gluténszenzitív enteropathia) a lakosság több mint 1%-át érintő immunmediált szisztémás kórkép, amelyet a gabonafélék (búza, rozs, árpa) prolaminjai, leggyakrabban a glutén, idéznek elő genetikailag fogékony egyénekben. Patomechanizmusában egyaránt szerepet játszik a veleszületett és szerzett immunitás (1. ábra). Főbb jellemzői a változatos intestinalis és extraintestinalis tünetek, az enteropathia, coeliakiaspecifikus antitestek jelenléte, valamint a HLA-DQ2.5 vagy DQ8 haplotípus hordozása [1]. Korábban a coeliakiát kizárólag gyermekkorban, a felszívódási zavar típusos tü-neteivel előforduló betegségnek tartották. Az elmúlt 25 évben vált nemcsak a gyermekgyógyászok és gasztroenterológusok, hanem a társszakmák számára is nyilvánva-lóvá, hogy a coeliakia bármely életkorban, bármely szerv vagy szervrendszer megbetegedésének tüneteivel jelentkezhet (1. táblázat). Felnőttkori lisztérzékenységnél gyakori, hogy a betegeknek enyhe vagy akár semmilyen emésztőrendszeri panasza nincs, ezért esetükben első-sorban a coeliakia extraintestinalis tünetei domi...

Background and purpose Magnitude of gluten‐specific T‐cell responses in coeliac disease (CD) might be dependent on HLA‐DQ2 gene dose. We aimed to investigate the effects of HLA‐DQB1*02 allele dose on clinical outcomes. Methods We reviewed the charts of all coeliac patients attending to three Hungarian university clinics after 1997 and included those patients, who (a) were diagnosed with CD, (b) underwent high‐resolution HLA typing and (c) were ≥18 years at the time of data collection. HLA typing was performed to determine DQB1*02 allele dose. Patients were divided into risk groups by DQB1*02 allele dose, as follows: high‐, intermediate‐ and low‐risk groups corresponded to a double, single and zero doses, respectively. We used ANOVA and Pearson's chi‐squared test to explore association between HLA risk and clinical variables. Results A total of 727 coeliac patients attended the clinics but only 105 (14.4%) patients were eligible for inclusion. High, intermediate and low HLA risk patients comprised 35.3%, 52.3% and 12.3% of the study population, respectively. Double dose of HLA‐DQB1*02 was more frequent in patient with high tTGA level (>10 times the upper limit of normal; p = 0.045). Gene dose was not associated with younger age at diagnosis (p = 0.549), gender (p = 0.739), more severe diagnostic histology (p = 0.318), more frequent classical presentation (p = 0.846), anaemia (p = 0.611), metabolic bone disease (p = 0.374), dermatitis herpetiformis (p = 0.381) and autoimmune diseases (p = 0.837). Conclusions Our study shows a significant gene dose effect in terms of tTGA level at diagnosis, but no significant association between HLA‐DQB1*02 allele dose and the clinical outcomes in CD.