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001-es BibID:BIBFORM044302
Első szerző:Collin, Pekka
Cím:Antiendomysial and antihuman recombinant tissue transglutaminase antibodies in the diagnosis of coeliac disease : a biopsy-proven European multicentre study / Collin Pekka, Kaukinen Katri, Vogelsang Harald, Korponay-Szabo Ilma, Sommer Rudolf, Schreier Elisabeth, Volta Umberto, Granito Alessandro, Veronesi Lorenza, Mascart Francoise, Ocmant Annick, Ivarsson Anneli, Lagerqvist Carina, Bürgin-Wolff Annemarie, Hadziselimovic Faruk, Furlano Raoul I., Sidler Marc A., Mulder Chris J. J., Goerres Marije S., Mearin M. Luisa, Ninaber Maarten K., Gudmand-Hoyer Eivind, Fabiani Elisabetta, Catassi Carlo, Tidlund Helena, Alainentalo Lisbeth, Maki Markku
Dátum:2005
ISSN:0954-691X
Megjegyzések:OBJECTIVE:To investigate the value of serum antitissue transglutaminase IgA antibodies (IgA-TTG) and IgA antiendomysial antibodies (IgA-EMA) in the diagnosis of coeliac disease in cohorts from different geographical areas in Europe. The setting allowed a further comparison between the antibody results and the conventional small-intestinal histology.METHODS:A total of 144 cases with coeliac disease [median age 19.5 years (range 0.9-81.4)], and 127 disease controls [median age 29.2 years (range 0.5-79.0)], were recruited, on the basis of biopsy, from 13 centres in nine countries. All biopsy specimens were re-evaluated and classified blindly a second time by two investigators. IgA-TTG were determined by ELISA with human recombinant antigen and IgA-EMA by an immunofluorescence test with human umbilical cord as antigen.RESULTS:The quality of the biopsy specimens was not acceptable in 29 (10.7%) of 271 cases and a reliable judgement could not be made, mainly due to poor orientation of the samples. The primary clinical diagnosis and the second classification of the biopsy specimens were divergent in nine cases, and one patient was initially enrolled in the wrong group. Thus, 126 coeliac patients and 106 controls, verified by biopsy, remained for final analysis. The sensitivity of IgA-TTG was 94% and IgA-EMA 89%, the specificity was 99% and 98%, respectively.CONCLUSIONS:Serum IgA-TTG measurement is effective and at least as good as IgA-EMA in the identification of coeliac disease. Due to a high percentage of poor histological specimens, the diagnosis of coeliac disease should not depend only on biopsy, but in addition the clinical picture and serology should be considered
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:European Journal Of Gastroenterology & Hepatology. - 17 : 1 (2005), p. 85-91. -
További szerzők:Kaukinen, Katri Vogelsang, Harald Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Sommer, Rudolf Schreier, Elisabeth Volta, Umberto Granito, Alessandro Veronesi, Lorenza Mascart, Francoise Ocmant, Annick Ivarsson, Anneli Lagerqvist, Carina Bürgin-Wolff, Annemarie Hadziselimovic, Faruk Furlano, Raoul I. Sidler, Marc A. Mulder, Chris J. Goerres, Marije S. Mearin, Maria Luisa Ninaber, Maarten K. Gudmand-Hoyer, Eivind Fabiani, Elisabetta Catassi, Carlo Tidlund, Helena Alainentalo, Lisbeth Mäki, Markku
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2.

001-es BibID:BIBFORM016242
Első szerző:Dubois, Patrick C. A.
Cím:Multiple common variants for celiac disease influencing immune gene expression / Dubois Patrick C. A., Trynka Gosia, Franke Lude, Hunt Karen A., Romanos Jihane, Curtotti Alessandra, Zhernakova Alexandra, Heap Graham A. R., Ádány Róza, Aromaa Arpo, Bardella Maria Teresa, van den Berg Leonard H., Bockett Nicholas A., de la Concha Emilio G., Dema Bárbara, Fehrmann Rudolf S. N., Fernández-Arquero Miguel, Fiatal Szilvia, Grandone Elvira, Green Peter M., Groen Harry J. M., Gwilliam Rhian, Houwen Roderick H. J., Hunt Sarah E., Kaukinen Katri, Kelleher Dermot, Korponay-Szabo Ilma, Kurppa Kalle, MacMathuna Padraic, Mäki Markku, Mazzilli Maria Cristina, McCann Owen T., Mearin M. Luisa, Mein Charles A., Mirza Muddassar M., Mistry Vanisha, Mora Barbara, Morley Katherine I., Mulder Chris J., Murray Joseph A., Núnez Concepción, Oosterom Elvira, Ophoff Roel A., Polanco Isabel, Peltonen Leena, Platteel Mathieu, Rybak Anna, Salomaa Veikko, Schweizer Joachim J., Sperandeo Maria Pia, Tack Greetje J., Turner Graham, Veldink Jan H., Verbeek Wieke H. M., Weersma Rinse K., Wolters Victorien M., Urcelay Elena, Cukrowska Bozena, Greco Luigi, Neuhausen Susan L., McManus Ross, Barisani Donatella, Deloukas Panos, Barrett Jeffrey C., Saavalainen Paivi, Wijmenga Cisca, van Heel David A.
Dátum:2010
ISSN:1061-4036
Tárgyszavak:Orvostudományok Egészségtudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Nature Genetics. - 42 : 4 (2010), p. 295-302. -
További szerzők:Trynka, Gosia Franke, Lude Hunt, Karen A. Romanos, Jihane Curtotti, Alessandra Zhernakova, Alexandra Heap, Graham A. R. Ádány Róza (1952-) (megelőző orvostan és népegészségtan szakorvos) Aromaa, Arpo Bardella, Maria Teresa Van den Berg, Leonard H. Bockett, Nicholas A. Concha, Emilio G., de la Dema, Bárbara Fehrmann, Rudolf S. N. Fernández-Arquero, Miguel Fiatal Szilvia (1978-) (epidemiológus, népegészségügyi szakember) Grandone, Elvira Green, Peter M. Groen, Harry J. M. Gwilliam, Rhian Houwen, Roderick H. J. Hunt, Sarah E. Kaukinen, Katri Kelleher, Dermot Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Kurppa, Kalle MacMathuna, Padraic Mäki, Markku Mazzilli, Maria Cristina McCann, Owen T. Mearin, Maria Luisa Mein, Charles A. Mirza, Muddassar M. Mistry, Vanisha Mora, Barbara Morley, Katherine I. Mulder, Chris J. Murray, Joseph A. Núnez, Concepción Oosterom, Elvira Ophoff, Roel A. Polanco, Isabel Peltonen, Leena Platteel, Mathieu Rybak, Anna Salomaa, Veikko Schweizer, Joachim J. Sperandeo, Maria Pia Tack, Greetje J. Turner, Graham Veldink, Jan H. Verbeek, Wieke H. M. Weersma, Rinse K. Wolters, Victorien M. Urcelay, Elena Cukrowska, Bozena Greco, Luigi Neuhausen, Susan L. McManus, Ross Barisani, Donatella Deloukas, Panos Barrett, Jeffrey C. Saavalainen, Päivi Wijmenga, Cisca Heel, David A., van
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3.

001-es BibID:BIBFORM044276
Első szerző:Einarsdottir, Elisabet
Cím:Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations / Einarsdottir Elisabet, Bevova Marianna R., Zhernakova Alexandra, Monsuur Alienke, Koskinen Lotta L. E., van't Slot Ruben, Mulder Chris, Mearin M. Luisa, Korponay-Szabo Ilma R., Kaukinen Katri, Kurppa Kalle, Kere Juha, Mäki Markku, Wijmenga Cisca, Saavalainen Päivi
Dátum:2011
ISSN:1018-4813
Megjegyzések:Celiac disease is an inflammatory enteropathy caused by intolerance to gluten. Previous linkage studies in the Dutch, Finnish and Hungarian populations have revealed a locus on chromosome 6q21-22 conferring susceptibility to celiac disease. This locus has previously been implicated in susceptibility to other autoimmune diseases such as Crohn's disease and type 1 diabetes. We performed fine mapping on 446 independent individuals with celiac disease and 641 controls of Dutch origin, testing 872 tagging SNPs in a 22 Mb region of chromosome 6. The 12 most promising SNPs were followed up in 2071 individuals from 284 Finnish and 357 Hungarian celiac disease families to identify risk variants in this region. Multiple markers in the region were significantly associated with celiac disease in the Dutch material. Two SNPs, rs9391227 and rs4946111, were significantly associated with celiac disease in the Finnish population. The association to rs9391227 represents the strongest association signal found in the Finnish (P = 0.003, OR 0.66) as well as the combined Dutch, Finnish and Hungarian populations (P = 3.6 ? 10(-5), OR 0.76). The rs9391227 is situated downstream of the HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1) gene and is contained within a region of strong linkage disequilibrium enclosing HACE1. Two additional, independent, susceptibility variants in the 6q21-22 region were also found in a meta-analysis of the three populations. The 6q21-22 region was confirmed as a celiac disease susceptibility locus and harbors multiple independent associations, some of which may implicate ubiquitin-pathways in celiac disease susceptibility.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:European Journal Of Human Genetics. - 19 : 6 (2011), p. 682-686. -
További szerzők:Bevova, Marianna R. Zhernakova, Alexandra Monsuur, Alienke Koskinen, Lotta L. E. van't Slot, Ruben Mulder, Chris J. Mearin, Maria Luisa Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Kaukinen, Katri Kurppa, Kalle Kere, Juha Mäki, Markku Wijmenga, Cisca Saavalainen, Päivi
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4.

001-es BibID:BIBFORM048562
Első szerző:Tack, Greetje J.
Cím:Consumption of gluten with gluten-degrading enzyme by celiac patients : a pilot-study / Greetje J. Tack, Jolanda M. W. van de Water, Maaike J. Bruins, Engelina M. C. Kooy-Winkelaar, Jeroen van Bergen, Petra Bonnet, Anita C. E. Vreugdenhil, Ilma Korponay-Szabo, Luppo Edens, B. Mary E. von Blomberg, Marco W. J. Schreurs, Chris J. Mulder, Frits Koning
Dátum:2013
ISSN:1007-9327
Megjegyzések:AIM:To assesses the safety and efficacy of Aspergillus niger prolyl endoprotease (AN-PEP) to mitigate the immunogenic effects of gluten in celiac patients.METHODS:Patients with initial diagnosis of celiac disease as confirmed by positive serology with subtotal or total villous atrophy on duodenal biopsies who adhere to a strict gluten-free diet (GFD) resulting in normalised antibodies and mucosal healing classified as Marsh 0 or I were included. In a randomised double-blind placebo-controlled pilot study, patients consumed toast (approximately 7 g/d gluten) with AN-PEP for 2 wk (safety phase). After a 2-wk washout period with adherence of the usual GFD, 14 patients were randomised to gluten intake with either AN-PEP or placebo for 2 wk (efficacy phase). Measurements at baseline included complaints, quality-of-life, serum antibodies, immunophenotyping of T-cells and duodenal mucosa immunohistology. Furthermore, serum and quality of life questionnaires were collected during and after the safety, washout and efficacy phase. Duodenal biopsies were collected after the safety phase and after the efficacy phase. A change in histological evaluation according to the modified Marsh classification was the primary endpoint.RESULTS:In total, 16 adults were enrolled in the study. No serious adverse events occurred during the trial and no patients withdrew during the trial. The mean score for the gastrointestinal subcategory of the celiac disease quality (CDQ) was relatively high throughout the study, indicating that AN-PEP was well tolerated. In the efficacy phase, the CDQ scores of patients consuming gluten with placebo or gluten with AN-PEP did not significantly deteriorate and moreover no differences between the groups were observed. During the efficacy phase, neither the placebo nor the AN-PEP group developed significant antibody titers. The IgA-EM concentrations remained negative in both groups. Two patients were excluded from entering the efficacy phase as their mucosa showed an increase of two Marsh steps after the safety phase, yet with undetectable serum antibodies, while 14 patients were considered histologically stable on gluten with AN-PEP. Also after the efficacy phase, no significant deterioration was observed regarding immunohistological and flow cytometric evaluation in the group consuming placebo compared to the group receiving AN-PEP. Furthermore, IgA-tTG deposit staining increased after 2 wk of gluten compared to baseline in four out of seven patients on placebo. In the seven patients receiving AN-PEP, one patient showed increased and one showed decreased IgA-tTG deposits.CONCLUSION:AN-PEP appears to be well tolerated. However, the primary endpoint was not met due to lack of clinical deterioration upon placebo, impeding an effect of AN-PEP.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Adverse events
Aspergillus niger prolyl endoprotease
Celiac disease
Enzyme
IgA-tTG intestinal deposits
Prolyl endoprotease
Megjelenés:World Journal of Gastroenterology 19 : 35 (2013), p. 5837-5847. -
További szerzők:Water, Jolanda M. W. van de Bruins, Maaike J. Kooy-Winkelaar, Engelina M. C. Bergen, Jeroen van Bonnet, Petra Vreugdenhil, Anita C. E. Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Edens, Luppo Blomberg, B. Mary E. von Schreurs, Marco W. J. Mulder, Chris J. Koning, Frits
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