Proceedings of the 24th Paediatric Rheumatology European Society Congress: Part three

Autor: Erato Atsali, Dimitra Kassara, Pelagia Katsimbri, Sorina Boiu, Dimitrios T. Boumpas, Vana Papaevangelou, Olena A. Oshlyanska, Ludmila I. Omelchenko, Tatiana A. Ljudvik, Katerina Bouchalova, Marcel Schüller, Jana Franova, Jarmila Skotakova, Marie Macku, Antoni Fellas, Fiona Hawke, Derek Santos, Andrea Coda, Anthi Kelempisioti, Paula Keskitalo, Virpi Glumoff, Petri Kulmala, Paula Vahasalo, Mohammed A. Mozaffar, Asraa K. Turkistani, Samaa O. Sangoof, Vladislav Sevostyanov, Elena Zholobova, Evangelia Bountouvi, konstantinos Theodoropoulos, Renata Moutsiou, Christina Tsalapaki, Talia Diaz, Sofia Osorio, Maria Teresa Braña, Yuridiana Ramirez, Luis Aparicio, Andres Rodriguez, Enrique Faugier, Rocio Maldonado, Maria Francesca Gicchino, Carmela Granato, Giulia Macchini, Daniela Capalbo, Alma Nunzia Olivieri, Nathan Hasson, Achille Marino, Sona Narula, Melissa Lerman, Maria Amelia Muñoz Calonge, Sara Maria Murias Loza, Rosa Maria Alcobendas, Agustin Remesal, Esmeralda Núñez-Cuadros, Rocio Galindo Zavala, Gisela Díaz-Cordovés Rego, Cristina Antúnez Fernández, Yaiza García Molina, Antonio L. Urda Cardona, Nihal Sahin, Habibe S. Durmus, Ayse S. Pinarbasi, Zubeyde Gunduz, Muammer H. Poyrazoglu, Zehra F. Karaman, Turhan Oktem, Mithat Oner, Ruhan Dusunsel, Gordana Susic, Tamara Krstajic, Dragana Vujovic, Nedeljko Radlovic, Zoran Lekovic, Dusica Novakovic, Gordana Milosevski Lomic, Karina Mördrup, Gunilla Hesselstrand, Iva Sorić, Lovro Lamot, Mandica Vidovic, Mirta Lamot, Miroslav Harjacek, Eva Adank, Elvira Cannizzaro Schneider, Eiman Abdalla, Irfan Ullah, L. Jeyaseelan, Reem Abdwani, Laila A. L. Shaqsi, Ibrahim A. l. Zakwani, Antonis Fanouriakis, Mahesh Janarthanan, Dhanarathnamoorthy Vetrichelvan, P. Ramachandran, Sangeetha Geminiganesan, Dinesh Kumar, Subba Rao, Eleni-Maria Papatesta, Despoina Maritsi, Irini Eleftheriou, Maria Tsolia, Olga Vougiouka, Mustafa Çakan, Nuray Aktay Ayaz, Şerife Gül Karadağ, Gonca Keskindemirci, Vladimir Keltsev, Lyudmila Grebenkina, Kwang Nam Kim, Jong Gyun Ahn, Young Dae Kim, Maria Cristina Maggio, Rolando Cimaz, Maria Concetta Failla, Piera Dones, Mirella Collura, Giovanni Corsello, Jung-Woo Rhim, Ki-Hwan Kim, Soo-Young Lee, Seung-Beom Han, Jin-Han Kang, Jae-Hee Chung, Soo-Jung Lee, Dae-Chul Jeong, Andrei Santimov, Regina Rupp, Igor Alekseev, Natalya Plutova, Ekaterina Moskvina, Marina Kruchina, Aleksandra Tarasenko, Natalya Sokolova, Ekaterina Saveleva, Ilia Bogdanov, Dmitrii Ivanov, Tatiana Kandrina, Olga Kopanevich, Anastasiia Grafskaia, Natalia Ignateva, Daria Pulukchu, Natalia Pavlova, Olga Kalashnikova, Tatiana Kornishina, Margarita Dubko, Vyacheslav Chasnyk, Mikhail Kostik, Shama Sowdagar, Janani Sankar, Venkateswari Ramesh, Iulia E. Szabo, Claudia Sirbe, Cristina Pamfil, Laura Damian, Simona Rednic, Maria Deac, Mihaela Sparchez, Ileana Filipescu, Mirela Parvu, Dumitrita Balint, Ancuta Nicoara

Publikováno v: Pediatric Rheumatology Online Journal, Vol 15, Iss S2, Pp 177-191 (2017)

Externí odkaz: https://doaj.org/article/b32aa041c31545d085e7cf12ed6ed062

Hypercalciuria caused by CYP24A1 mutation: Fourteen years of the patient’s follow-up

Autor: Gordana Milosevski-Lomic, Martin Konrad, Amira Peco-Antic, Biljana Ivelja, Dusan Paripovic

Publikováno v: Srpski Arhiv za Celokupno Lekarstvo, Vol 146, Iss 1-2, Pp 77-80 (2018)

Introduction. Recently, inactivation mutations of CYP24A1, the gene encoding vitamin D 24-hydroxylase, were identified in hypercalciuric nephrolithiasis and nephrocalcinosis. Here, we describe а long-term follow-up of a patient with hypercalciuric n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b11e4e89c4feb1ea3c5fe52e447d29e4
http://www.doiserbia.nb.rs/img/doi/0370-8179/2018/0370-81791700095P.pdf

Jeune syndrome with renal failure

Autor: Mirjana Kostic, Amira Peco-Antic, Brankica Spasojevic, Mirjana Cvetkovic, Divna Kruscic, Gordana Milosevski-Lomic, Dusan Paripovic

Publikováno v: Srpski Arhiv za Celokupno Lekarstvo, Vol 145, Iss 3-4, Pp 147-152 (2017)

Introduction/Objective. Jeune syndrome (JS) is a rare hereditary ciliopathy characterized by asphyxiating thoracic dystrophy, shortened limbs and brachydactyly. Extraskeletal anomalies such as chronic renal failure (CRF), hepatic fibrosis, and retini

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb1b0c9de22f64d437b28bd32d668aa8
https://doi.org/10.2298/sarh160218027p

Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Autor: Rosalie B Sterenborg, Jörg Dötsch, Bert Bammens, Samuel Kilian, Elke Wühl, Sarah Verbeeck, Djalila Mekahli, Rukshana Shroff, Günter Klaus, Kathrin Burgmaier, Gordana Milosevski-Lomic, Katja Sauerstein, Thomas Benzing, Laurence Michel-Calemard, Dorota Wicher, Franziska Grundmann, Bruno Ranchin, Lutz T. Weber, Franz Schaefer, Heiko Billing, Susanne Schaefer, Anja Büscher, Matthias Galiano, Max C. Liebau

Publikováno v: Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)

Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric hepatorenal disorder with pronounced phenotypic variability. A substantial number of patients with early diagnosis reaches adulthood and some patients are not diagnosed until

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c9826ce8055f43f4939ae18b846046e
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85067279105

Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease

Autor: Kathrin Burgmaier, Kevin Kunzmann, Gema Ariceta, Carsten Bergmann, Anja Katrin Buescher, Mathias Burgmaier, Ismail Dursun, Ali Duzova, Loai Eid, Florian Erger, Markus Feldkoetter, Matthias Galiano, Michaela Geßner, Heike Goebel, Ibrahim Gokce, Dieter Haffner, Nakysa Hooman, Bernd Hoppe, Augustina Jankauskiene, Guenter Klaus, Jens König, Mieczyslaw Litwin, Laura Massella, Djalila Mekahli, Engin Melek, Sevgi Mir, Lars Pape, Larisa Prikhodina, Bruno Ranchin, Raphael Schild, Tomas Seeman, Lale Sever, Rukshana Shroff, Neveen A. Soliman, Stella Stabouli, Malgorzata Stanczyk, Yilmaz Tabel, Katarzyna Taranta-Janusz, Sara Testa, Julia Thumfart, Rezan Topaloglu, Lutz Thorsten Weber, Dorota Wicher, Elke Wühl, Simone Wygoda, Alev Yilmaz, Katarzyna Zachwieja, Ilona Zagozdzon, Klaus Zerres, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau, Nadejda Ranguelov, Nathalie Godefroid, Laure Collard, Jacques Lombet, Julie Maquet, Gesa Schalk, Uwe Querfeld, Bodo B. Beck, Thomas Benzing, Reinhard Buettner, Franziska Grundmann, Christine Kurschat, Kerstin Benz, Anja Tzschoppe, Björn Buchholz, Rainer Buescher, Karsten Häffner, Martin Pohl, Oliver Gross, Jenny Krügel, Johanna Stock, Ludwig Patzer, Jun Oh, Wanja Bernhardt, Anke Doyon, Tobias Vinke, Anja Sander, Michael Henn, Ute Derichs, Rolf Beetz, Nikola Jeck, Bärbel Lange-Sperandio, Sabine Ponsel, Franziska Kusser, Barbara Uetz, Marcus Benz, Silke Schmidt, Christina Huppertz-Kessler, Birgitta Kranz, Andrea Titieni, Donald Wurm, Heinz E. Leichter, Martin Bald, Heiko Billing, Marwa M. Nabhan, Luis Enrique Lara, Fotios Papachristou, Francesco Emma, Rimante Cerkauskiene, Karolis Azukaitis, Anna Wasilewska, Irena Balasz-Chmielewska, Monika Miklaszewska, Marcin Tkaczyk, Przemyslaw Sikora, Marcin Zaniew, Ania Niemirska, Jolanta Antoniewicz, Justyna Lesiak, Alberto Caldas Afonso, Ana Teixeira, Gordana Milosevski-Lomic, Dusan Paripović, Amira Peco-Antic, Svetlana Papizh, Aysun Karabay Bayazit, Ali Anarat, Alper Soylu, Salih Kavukcu, Cengiz Candan, Salim Caliskan, Nur Canpolat, Sevinc Emre, Harika Alpay, Nurver Akinci, Secil Conkar, Hakan M. Poyrazoglu, Ruhan Dusunsel

OBJECTIVE: To identify prenatal, perinatal, and postnatal risk factors for dialysis within the first year of life in children with autosomal recessive polycystic kidney disease (ARPKD) as a basis for parental counseling after prenatal and perinatal d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f6cfde1e35902f2f1dd74b9ce09f4a8
https://hdl.handle.net/20.500.12605/19675