Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Miroslava Balaščáková"'
Autor:
Jakub Zieg, Martin Bezdíčka, Michaela Němčíková, Miroslava Balaščáková, Martina Suková, Katalin Štěrbová, Karel Vondrák, Jiří Dušek, Anna Křepelová
Publikováno v:
Italian Journal of Pediatrics, Vol 49, Iss 1, Pp 1-10 (2023)
Abstract Background Schimke immunoosseous dysplasia (SIOD) is an ultra-rare inherited disease affecting many organ systems. Spondyloepiphyseal dysplasia, T-cell immunodeficiency and steroid resistant nephrotic syndrome are the main symptoms of this d
Externí odkaz:
https://doaj.org/article/427d742ac680453f8b0f9cbcd9383ec2
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Salt-losing tubulopathies are well-recognised diseases predisposing to metabolic disturbances in affected patients. One of the most severe complications can be life-threatening arrhythmias causing sudden cardiac arrest. We present here the first case
Externí odkaz:
https://doaj.org/article/1a7145bae8084d9b85f21a64ffb2280a
Autor:
Adriana A. de Jesus, Guibin Chen, Dan Yang, Tomas Brdicka, Natasha M. Ruth, David Bennin, Dita Cebecauerova, Hana Malcova, Helen Freeman, Neil Martin, Karel Svojgr, Murray H. Passo, Farzana Bhuyan, Sara Alehashemi, Andre T. Rastegar, Katsiaryna Uss, Lela Kardava, Bernadette Marrero, Iris Duric, Ebun Omoyinmi, Petra Peldova, Chyi-Chia Richard Lee, David E. Kleiner, Colleen M. Hadigan, Stephen M. Hewitt, Stefania Pittaluga, Carmelo Carmona-Rivera, Katherine R. Calvo, Nirali Shah, Miroslava Balascakova, Danielle L. Fink, Radana Kotalova, Zuzana Parackova, Lucie Peterkova, Daniela Kuzilkova, Vit Campr, Lucie Sramkova, Angelique Biancotto, Stephen R. Brooks, Cameron Manes, Eric Meffre, Rebecca L. Harper, Hyesun Kuehn, Mariana J. Kaplan, Paul Brogan, Sergio D. Rosenzweig, Melinda Merchant, Zuoming Deng, Anna Huttenlocher, Susan L. Moir, Douglas B. Kuhns, Manfred Boehm, Karolina Skvarova Kramarzova, Raphaela Goldbach-Mansky
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Neutrophilic inflammation is a hallmark of many monogenic autoinflammatory diseases. Here the authors report a case series of three unrelated boys with perinatal-onset of neutrophilic cutaneous small vessel vasculitis and systemic inflammation, and i
Externí odkaz:
https://doaj.org/article/ae467ac9fc384475ae6d8259f8ad7971
Autor:
Barbora Straka, Markéta Vlčková, Zuzana Libá, Barbora Heřmanovská, Martin Kynčl, Jana Dorňáková, Jakub Táborský, Pavel Kršek, Alena Musilová, Jan Janota, Miroslava Balaščaková
Publikováno v:
Epilepsia Open, Vol 8, Iss 1, Pp 211-216 (2023)
Abstract Fetal intracranial hemorrhage represents a rare event with an estimated prevalence of 1:10 000 pregnancies. We report a patient diagnosed prenatally with intracranial hemorrhage and ventriculomegaly carrying a novel, previously unreported, l
Externí odkaz:
https://doaj.org/article/a2e0995e10254ea09c975d92a2e9c41a