Search Results - "Avcin, Simona"

Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome by Charbit-Henrion, Fabienne, Jeverica, Anja K, Bègue, Bernadette, Markelj, Gasper, Parlato, Marianna, Avčin, Simona Lucija, Callebaut, Isabelle, Bras, Marc, Parisot, Mélanie, Jazbec, Janez, Homan, Matjaz, Ihan, Alojz, Rieux-Laucat, Frédéric, Stolzenberg, Marie-Claude, Ruemmele, Frank M, Avčin, Tadej, Cerf-Bensussan, Nadine

“…OBJECTIVE:Early-onset inflammatory bowel diseases can result from a wide spectrum of rare mendelian disorders. Early molecular diagnosis is crucial in defining…”
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Integrative Transcriptomic Profiling of the Wilms Tumor by Avčin, Simona Lucija, Črepinšek, Klementina, Jenko Bizjan, Barbara, Šket, Robert, Kovač, Jernej, Vrhovšek, Blaž, Blazina, Jerca, Blatnik, Olga, Kordič, Robert, Kitanovski, Lidija, Jazbec, Janez, Debeljak, Maruša, Tesovnik, Tine

“…Our study aimed to identify relevant transcriptomic biomarkers for the Wilms tumor, the most common pediatric kidney cancer, independent of the histological…”
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Severe Hyperkalemia Immediately After Birth by Kavčič, Alja, Avčin, Simona, Grosek, Štefan

“…BACKGROUND Hyperkalemia is an important cause of arrhythmias and a medical emergency that requires urgent treatment. The etiology is usually multifactorial. It…”
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Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series by Zerjav Tansek, Mojca, Kodric, Jana, Klemencic, Simona, Boelens, Jaap Jan, van Hasselt, Peter M., Drole Torkar, Ana, Doric, Maja, Koren, Alenka, Avcin, Simona, Battelino, Tadej, Groselj, Urh

“…Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare, X-linked recessive multisystem lysosomal storage disease due to iduronate-2-sulfatase enzyme…”
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Bifidobacterium breve Sepsis in Child with High-Risk Acute Lymphoblastic Leukemia by Avcin, Simona Lucija, Pokorn, Marko, Kitanovski, Lidija, Premru, Manica Mueller, Jazbec, Janez

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Treatment of Severe Steroid-Refractory Acute-Graft-vs.-Host Disease With Mesenchymal Stem Cells-Single Center Experience by Česen Mazič, Maja, Girandon, Lenart, Kneževič, Miomir, Avčin, Simona L, Jazbec, Janez

“…The most effective treatment of steroid refractory acute graft vs. host disease (aGvHD) is not yet established and mesenchymal stem cells (MSC) appear to be a…”
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REVESZ SYNDROME AND DIFFERENTIAL DIAGNOSIS OF PANCYTOPENIA AND APLASTIC ANEMIA – CASE REPORT by Homšak, Matjaž, Kulaš, Mario, Prelog, Tomaž, Lucija Avčin, Simona, Vipotnik Vesnaver, Tina

“…Abstract only…”
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Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor and/or nephroblastomatosis: The 30‐year SIOP‐RTSG experience by Hol, Janna A., Jongmans, Marjolijn C. J., Sudour‐Bonnange, Hélène, Ramírez‐Villar, Gema L., Chowdhury, Tanzina, Rechnitzer, Catherine, Pal, Niklas, Schleiermacher, Gudrun, Karow, Axel, Kuiper, Roland P., Camargo, Beatriz, Avcin, Simona, Redzic, Danka, Wachtel, Antonio, Segers, Heidi, Vujanic, Gordan M., Tinteren, Harm, Bergeron, Christophe, Pritchard‐Jones, Kathy, Graf, Norbert, Heuvel‐Eibrink, Marry M., Weid, Nicolas, Maricourt, Cécile Dumesnil, Proust, Stéphanie, Plantaz, Dominique, Perret, Cécile, Thomas, Caroline, Thebaud, Estelle, Boulanger, Cécile, Couteau, Nathalie, Verschuur, Arnauld C., Vaidya, Sucheta J., Oostveen, Radna Minou, Al‐Saadi, Reem, Maes, Philip, Werff‐ten Bosch, Jutte, Behrentz, Michael, Vujić, Dragana, Hasle, Henrik

“…Background WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and range of developmental delays) is a rare contiguous gene deletion syndrome with a…”
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Use of eculizumab in children with allogeneic haematopoietic stem cell transplantation associated thrombotic microangiopathy - a multicentre retrospective PDWP and IEWP EBMT study by Svec, Peter, Elfeky, Reem, Galimard, Jacques-Emmanuel, Higham, Christine S., Dalissier, Arnaud, Quigg, Troy C., Bueno Sanchez, David, Han Lum, Su, Faraci, Maura, Cole, Theresa, Pichler, Herbert, Benítez-Carabante, Maria Isabel, Horakova, Julia, Gonzalez -Vicent, Marta, Yanir, Asaf, Fagioli, Franca, Wölfl, Matthias, von der Weid, Nicolas, Protheroe, Rachel, Krivan, Gergely, Speckmann, Carsten, James, Beki, Avcin, Simona Lucija, Bertrand, Yves, Verna, Marta, Riha, Petr, Patrick, Katharine, Cesaro, Simone, Kalwak, Krzysztof, Bierings, Marc, Büchner, Jochen, Mellgren, Karin, Prohászka, Zoltán, Neven, Bénédicte, Lankester, Arjan, Corbacioglu, Selim

“…Terminal complement blockade by humanised monoclonal antibody eculizumab has been used to treat transplantation-associated thrombotic microangiopathy (TA-TMA)…”
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Wilms tumour event-free and overall survival in Southern and Eastern Europe: Pooled analyses of clinical data from four childhood cancer registries (1999–2017) by Doganis, Dimitrios, Zborovskaya, Anna, Trojanowski, Maciej, Zagar, Tina, Bouka, Panagiota, Baka, Margaret, Moschovi, Maria, Polychronopoulou, Sofia, Papakonstantinou, Eugenia, Tragiannidis, Athanasios, Stiakaki, Eftichia, Dana, Helen, Stefanaki, Kalliopi, Strantzia, Katerina, Kochubinsky, Dmitry, Marciniak, Patrycja, Avcin, Simona, Antoniadi, Kondilia, Dessypris, Nick, Petridou, Eleni Th

“…Wilms tumour (WT) management represents a success story in pediatric oncology. We aimed to assess, for the first time, the event-free survival (EFS) vs…”
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Micafungin for Candida infections in Slovenia and Romania: A multicenter, observational, prospective study by Zver, Samo, Avcin, Simona, Bedreag, Ovidiu, Bizilj, Sanja, Ecrulj, Vanja, Jazbec, Janez, Puconja, Nina, Stanic, Rade, Jereb, Matjaž

“…An echinocandin, such as micafungin, is recommended as first-line treatment for invasive Candida infections in immunocompromised patients. This multicenter,…”
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Pneumocystis Pneumonia After Allogeneic Hematopoietic Cell Transplantation: A Case-Control Study on Epidemiology and Risk Factors on Behalf of the Infectious Diseases Working Party of the European Society for Blood and Marrow Transplantation by Robin, Christine, Cordonnier, Catherine, Tridello, Gloria, Knelange, Nina, Xhaard, Alienor, Chantepie, Sylvain, Tanguy-Schmidt, Aline, Schouten, Harry C., Yeshurun, Moshe, Rocha, Vanderson, Srour, Micha, Kröger, Nicolaus, Ledoux, Marie-Pierre, Dalgaard, Jakob, Thiebaut, Anne, Giardino, Stefano, Calore, Elisabetta, Zuckerman, Tsila, Groll, Andreas H., Raida, Ludek, Avcin, Simona, Vicent, Marta Gonzalez, Kaare, Ain, Drozd-Sokolowska, Joanna, Turlure, Pascal, Bretagne, Stéphane, Mikulska, Malgorzata, Camara, Rafael de la, Cesaro, Simone, Styczynski, Jan

“…Pneumocystis pneumonia (PCP) is a life-threatening complication after allogeneic hematopoietic cell transplantation (allo-HCT). However, allo-HCT procedures…”
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REVESZOV SINDROM IN DIFERENCIALNO DIAGNOSTICIRANJE PANCITOPENIJE IN APLASTIČNE ANEMIJE – PRIKAZ PRIMERA by Homšak, Matjaž, Kulaš, Mario, Prelog, Tomaž, Lucija Avčin, Simona, Vipotnik Vesnaver, Tina

“…Predstavljamo primer dečka z Reveszovim sindromom in na primeru diagnostične poti diferencialno diagnosticiranje pancitopenije in aplastične anemije. Reveszov…”
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Prikaz primera prvega uspešnega genskega zdravljenja slovenskega bolnika z mukopolisaharidozo tipa I v tujini by Jalšovec, Tadej, Lah, Benjamin, Bernardo, Maria Ester, Drole Torkar, Ana, Kodrič, Jana, Žerjav Tanšek, Mojca, Avčin, Simona Lucija, Aiuti, Alessandro, Battelino, Tadej, Grošelj, Urh

“…Mukopolisaharidoze so skupina lizosomskih bolezni kopičenja. Njihova skupna značilnost je pomanjkanje delovanja encimov, ki razgrajujejo glikozaminoglikane,…”
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Cyclosporine A induced dystonia-parkinsonism by Miklavčič, Petra, Avčin, Simona, Jazbec, Janez, Vipotnik Vesnaver, Tina, Todorova, Biljana, Trošt, Maja, Kojović, Maja

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Cylosporine A induced dystonia-Parkinsonism by Miklavčič, Petra, Avčin, Simona, Jazbec, Janez, Vesnaver, Tina Vipotnik, Todorova, Biljana, Trošt, Maja, Kojović, Maja

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Deficiency in Mucosa‐associated Lymphoid Tissue Lymphoma Translocation 1 by Charbit‐Henrion, Fabienne, Jeverica, Anja K., Bègue, Bernadette, Markelj, Gasper, Parlato, Marianna, Avčin, Simona Lucija, Callebaut, Isabelle, Bras, Marc, Parisot, Mélanie, Jazbec, Janez, Homan, Matjaz, Ihan, Alojz, Rieux‐Laucat, Frédéric, Stolzenberg, Marie‐Claude, Ruemmele, Frank M., Avčin, Tadej, Cerf‐Bensussan, Nadine

“…ABSTRACT Objective: Early‐onset inflammatory bowel diseases can result from a wide spectrum of rare mendelian disorders. Early molecular diagnosis is crucial…”
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Bifidobacterium breve Sepsis in Child with High-Risk Acute Lymphoblastic Leukemia by Avcin, Simona Lucija, Pokorn, Marko, Kitanovski, Lidija, Premru, Manica Mueller, Jazbec, Janez

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Subcutaneous nodule after vaccination with an aluminum-containing vaccine by Avcin, S, Jazbec, J, Jancar, J

“…Persistent subcutaneous nodules may arise after vaccination or allergen desensitization. The swelling might appear as a result of a specific histiocytic…”
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Cyclosporine A induced dystonia-parkinsonism by Miklavčič, Petra, Avčin, Simona, Jazbec, Janez, Vipotnik Vesnaver, Tina, Todorova, Biljana, Trošt, Maja, Kojović, Maja

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