Ausgabe 1/2020
Inhalt (18 Artikel)
Random X chromosome inactivation in patients with Klinefelter syndrome
Kenichi Kinjo, Tomoko Yoshida, Yoshitomo Kobori, Hiroshi Okada, Erina Suzuki, Tsutomu Ogata, Mami Miyado, Maki Fukami
Shaping of the nephron – a complex, vulnerable, and poorly explored backdrop for noxae impairing nephrogenesis in the fetal human kidney
Will W. Minuth
Shedding light on pediatric diseases: multispectral optoacoustic tomography at the doorway to clinical applications
Adrian P. Regensburger, Alexandra L. Wagner, Jing Claussen, Maximilian J. Waldner, Ferdinand Knieling
Modulation of CYP2E1 metabolic activity in a cohort of confirmed caffeine ingesting pregnant women with preterm offspring
M. R. Alcorta-García, C. N. López-Villaseñor, G. Sánchez-Ferrer, H. Flores-Mendoza, F. Castorena-Torres, M. A. Aguilar-Torres, C. M. Sepúlveda-Treviño, J. A. Hernández-Hernández, R. C. López-Sánchez, V. J. Lara-Díaz
Pro-inflammatory cytokine ratios determine the clinical course of febrile neutropenia in children receiving chemotherapy
Mira Siegmund, Julia Pagel, Tasja Scholz, Jan Rupp, Christoph Härtel, Melchior Lauten
Infant formula with cow’s milk fat and prebiotics affects intestinal flora, but not the incidence of infections during infancy in a double-blind randomized controlled trial
Antonia Nomayo, Andreas Schwiertz, Rainer Rossi, Katharina Timme, Janine Foster, Richard Zelenka, Josef Tvrdik, Frank Jochum
DNA methylation biomarkers of future health outcomes in children
Shivanthan Shanthikumar, Melanie R. Neeland, Jovana Maksimovic, Sarath C. Ranganathan, Richard Saffery
Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Helmuth-Günther Dörr, Nadja Schulze, Markus Bettendorf, Gerhard Binder, Walter Bonfig, Christian Denzer, Desiree Dunstheimer, Kirsten Salzgeber, Heinrich Schmidt, Karl Otfried Schwab, Egbert Voss, Martin Wabitsch, Joachim Wölfle
Osteogenesis imperfecta—pathophysiology and therapeutic options
Julia Etich, Lennart Leßmeier, Mirko Rehberg, Helge Sill, Frank Zaucke, Christian Netzer, Oliver Semler
Nup133 and ERα mediate the differential effects of hyperoxia-induced damage in male and female OPCs
Donna Elizabeth Sunny, Elke Hammer, Sebastian Strempel, Christy Joseph, Himanshu Manchanda, Till Ittermann, Stephanie Hübner, Frank Ulrich Weiss, Uwe Völker, Matthias Heckmann
Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report
Nami Mohammadian Khonsari, Sahar Mohammad Poor Nami, Benyamin Hakak-Zargar, Tessa Voth
Early clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy
Judith Beschle, Michaela Döring, Christiane Kehrer, Christa Raabe, Ute Bayha, Manuel Strölin, Judith Böhringer, Andrea Bevot, Nadja Kaiser, Benjamin Bender, Alexander Grimm, Peter Lang, Ingo Müller, Ingeborg Krägeloh-Mann, Samuel Groeschel
A role for the alpha-8 integrin chain (itga8) in glomerular homeostasis of the kidney
Ines Marek, Karl Friedrich Hilgers, Wolfgang Rascher, Joachim Woelfle, Andrea Hartner
A case of recurrent herpes simplex 2 encephalitis, VZV reactivations, and dominant partial interferon-gamma-receptor-1 deficiency supports relevance of IFNgamma for antiviral defense in humans
Julia Körholz, Nicole Richter, Jochen Schäfer, Catharina Schuetz, Joachim Roesler
Diagnostic and therapeutic odyssey of two patients with compound heterozygous leptin receptor deficiency
Stefanie Zorn, Julia von Schnurbein, Katja Kohlsdorf, Christian Denzer, Martin Wabitsch
Evolving pituitary hormone deficits in primarily isolated GHD: a review and experts’ consensus
Gerhard Binder, Dirk Schnabel, Thomas Reinehr, Roland Pfäffle, Helmuth-Günther Dörr, Markus Bettendorf, Berthold Hauffa, Joachim Woelfle
Impact of early-life diet on long-term renal health
Eva Nüsken, Jenny Voggel, Gregor Fink, Jörg Dötsch, Kai-Dietrich Nüsken
Asprosin in pregnancy and childhood
Ruth Janoschek, Thorben Hoffmann, Yousef Ashraf Tawfik Morcos, Gerhard Sengle, Jörg Dötsch, Eva Hucklenbruch-Rother