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001-es BibID:BIBFORM100412
035-os BibID:(cikkazonosító)e2100687118 (Scopus)85122558809
Első szerző:Landegren, Nils
Cím:A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen / Landegren Nils, Ishii Norito, Aranda-Guillén Maribel, Gunnarsson Hörỏur Ingi, Sardh Fabian, Hallgren Ảsa, Stảhle Mona, Hagforsen Eva, Bradley Maria, Edqvist Per-Henrik D., Pontén Fredrik, Mäkitie Outi, Eidsmo Liv, Norlén Lars, Achour Adnane, Dahlbom Ingrid, Korponay-Szabó Ilma, Agardh Daniel, Alimohammadi Mohammad, Eriksson Daniel, Hashimoto Takashi, Kämpe Olle
Dátum:2021
ISSN:0027-8424 1091-6490
Megjegyzések:Autoantigen discovery is a critical challenge for the understanding and diagnosis of autoimmune diseases. While autoantibody markers in current clinical use have been identified through stud ies focused on individual disorders, we postulated that a reverse approach starting with a putative autoantigen to explore multiple disorders might hold promise. We here targeted the epidermal protein transglutaminase 1 (TGM1) as a member of a protein fam ily prone to autoimmune attack. By screening sera from patients with various acquired skin disorders, we identified seropositive subjects with the blistering mucocutaneous disease paraneoplastic pemphigus. Validation in further subjects confirmed TGM1 autoan tibodies as a 55% sensitive and 100% specific marker for paraneo plastic pemphigus. This gene-centric approach leverages the wealth of data available for human genes and may prove gener ally applicable for biomarker discovery in autoimmune diseases.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
autoimmunity
biomarkers
paraneoplastic
autoantibodies
transglutaminase
Megjelenés:Proceedings Of The National Academy Of Sciences Of The United States Of America. - 118 : 51 (2021), p. 1-6. -
További szerzők:Ishii, Norito Aranda-Guillén, Maribel Gunnarsson, Hörỏur Ingi Sardh, Fabian Hallgren, Ảsa Ståhle, Mona Hagforsen, Eva Bradley, Maria Edqvist, Per-Henrik D. Pontén, Fredrik Mäkitie, Outi Eidsmo, Liv Norlén, Lars Achour, Adnane Dahlbom, Ingrid Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Agardh, Daniel Alimohammadi, Mohammad Eriksson, Daniel Hashimoto, Takashi Kämpe, Olle
Pályázati támogatás:NKFI 120392
OTKA
EFOP-3.6.1-16-2016-00022
EFOP
DTP3-571-1.2
Egyéb
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001-es BibID:BIBFORM103510
035-os BibID:(Wos)000841921200031 (Scopus)85136851907
Első szerző:Mearin, Maria Luisa
Cím:ESPGHAN Position Paper on Management and Follow-up of Children and Adolescents With Celiac Disease / Mearin Maria Luisa, Agardh Daniel, Antunes Henedina, Al-toma Abdul, Auricchio Renata, Castillejo Gemma, Catassi Carlo, Ciacci Carolina, Discepolo Valentina, Dolinsek Jernej, Donat Ester, Gillett Peter, Guandalini Steffano, Husby Steffen, Koletzko Sibylle, Koltai Tunde, Korponay-Szabó Ilma Rita, Kurppa Kalle, Lionetti Elena, Marild Karl, Martinez Ojinaga Eva, Meijer Caroline, Monachesi Chiara, Polanco Isabel, Popp Alina, Roca Maria, Rodriguez-Herrera Alfonso, Shamir Raanan, Størdal Ketil, Troncone Riccardo, Valitutti Francesco, Vreugdenhil Anita, Wessels Margreet, Whiting Penny, ESPGHAN Special Interest Group on Celiac Disease
Dátum:2022
ISSN:0277-2116
Megjegyzések:Objectives: To gather the current evidence and to offer recommendations for follow-up and management. Methods: The Special Interest Group on Celiac Diseases of the European Society of Paediatric Gastroenterology Hepatology and Nutrition formulated ten questions considered to be essential for follow-up care. A literature search (January 2010-March 2020) was performed in PubMed or Medline. Relevant publications were identified and potentially eligible studies were assessed. Statements and recommendations were developed and discussed by all coauthors. Recommendations were voted upon: joint agreement was set as at least 85%. Results: Publications (n = 2775) were identified and 164 were included. Using evidence or expert opinion, 37 recommendations were formulated on: The need to perform follow-up, its frequency and what should be assessed, how to assess adherence to the gluten-free diet, when to expect catch-up growth, how to treat anemia, how to approach persistent high serum levels of antibodies against tissue-transglutaminase, the indication to perform biopsies, assessment of quality of life, management of children with unclear diagnosis for which a gluten-challenge is indicated, children with associated type 1 diabetes or IgA deficiency, cases of potential celiac disease, which professionals should perform follow-up, how to improve the communication to patients and their parents/caregivers and transition from pediatric to adult health care. Conclusions: We offer recommendations to improve follow-up of children and adolescents with celiac disease and highlight gaps that should be investigated to further improve management.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Journal Of Pediatric Gastroenterology And Nutrition. - 75 : 3 (2022), p. 369-386. -
További szerzők:Agardh, Daniel Antunes, Henedina Al-toma, Abdul Auricchio, Renata Castillejo, Gemma (gyermekgyógyász, gasztroenterológus) Catassi, Carlo Ciacci, Carolina Discepolo, Valentina Dolinśek, Jernej Donat, Ester Gillett, Peter Guandalini, Steffano Husby, Steffen Koletzko, Sibylle Koltai Tünde Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Kurppa, Kalle Lionetti, Elena Marild, Karl Martinez Ojinaga, Eva Meijer, Caroline R. Monachesi, Chiara Polanco, Isabel Popp, Alina Roca, María Rodriguez-Herrera, Alfonso Shamir, Raanan (gyermekgyógyász) Størdal, Ketil Troncone, Riccardo Valitutti, Francesco Vreugdenhil, Anita C. E. Wessels, Margreet Whiting, Penny ESPGHAN Special Interest Group on Celiac Disease
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