A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone

Autor: Allysa M. Dijkstra, Kimber Evers-van Vliet, M. Rebecca Heiner-Fokkema, Frank A. J. A. Bodewes, Dennis K. Bos, József Zsiros, Koen J. van Aerde, Klaas Koop, Francjan J. van Spronsen, Charlotte M. A. Lubout

Publikováno v: International Journal of Neonatal Screening, Vol 9, Iss 4, p 66 (2023)

Undiagnosed and untreated tyrosinemia type 1 (TT1) individuals carry a significant risk for developing liver fibrosis, cirrhosis and hepatocellular carcinoma (HCC). Elevated succinylacetone (SA) is pathognomonic for TT1 and therefore often used as ma

Externí odkaz: https://doaj.org/article/33564cba8f9b4f748a659a786b91d03e

Severe Paediatric COVID-19 and Multisystem Inflammatory Syndrome in Children from Wild-Type to Population Immunity: A Prospective Multicentre Cohort Study with Real-Time Reporting

Autor: Adam J. Tulling, Gertjan Lugthart, Miriam G. Mooij, Caroline L.H. Brackel, Suzanne WJ Terheggen-Lagro, Rianne Oostenbrink, Corinne M.P. Buysse, Simone Hashimoto, Leontien B. van der Aa, Koen J. van Aerde, Wineke Armbrust, Bettina Auffarth-Smedema, Michiel A.G.E. Bannier, Ingeborg Y. Bart, Cherise Beek, Gitanjali I. Bechan, Jolita Bekhof, Merlijn J. van den Berg, Venje H. Boonstra, Mijke Breukels, Danielle M.C. Brinkman, Patricia Bruijning-Verhagen, Stephanie C. de Crom, Margot R. Ernst-Kruis, Pieter L. A. Fraaij, Helma B. van Gameren-Oosterom, Joyce Goris, Michael Groeneweg, Mariken Gruppen, Sanne C. Hammer, Han Hendriks, Petra C.E. Hissink Muller, Jenneke Homan-van der Veen, Marlies A. van Houten, Monique A.M. Jacobs, Lindy Janssen, Arvid W.A. Kamps, Naomi Ketharanathan, Jan W. van der Linden, Kevin H. van 't Kruys, Martijn van der Kuip, Taco Kuijpers, Ankie Lebon, Elizabeth G. Legger, Shirley Lo-A-Njoe, Meindert E. Manshande, Carien J. Miedema, Charlie C. Obihara, Lonneke van Onzenoort-Bokken, Annemarie Oudshoorn, Esther J.E. Peeters, Ronald Petru, Marielle Pijnenburg, Denise Rook, Kim Schilleman, Rian Schopmeijer, David Slotboom, Manouk van der Steen, Kim Stol, Yolande E.M. Thomasse, Wim Tissing, Gerdien A. Tramper-Stranders, Xandra W. van den Tweel, Sebastiaan J. Vastert, Mirjam van Veen, Anne B. Verbeek, Annette M.M. Vernooij-van Langen, Jantien W. Wieringa, Joanne G. Wildenbeest, Saskia N. de Wildt, Christiaan van Woerden, Erik G.J. von Asmuth, Emilie P. Buddingh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dc30e8e5798ab70689e624da6d8780ed
https://doi.org/10.2139/ssrn.4401713

Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Autor: Tim Niehues, Catherine Waruiru, Conleth Feighery, Uwe Schauer, Virginie Courteille, Kai Lehmberg, Ingo Müller, I. Esteves, Henner Morbach, Michael Borte, Patrick Hundsdoerfer, Klaus Schwarz, Ewelina Gowin, Alessandro Aiuti, Andreas Holbro, Federica Barzaghi, João Farela Neves, Dagmar Graf, Hannah Tamary, Veneta Milenova, Benedikt Boetticher, Eleonora Gambineri, Vera Goda, Alia Eldash, Jan-Christian Wasmuth, Fabio Candotti, Svetlana O. Sharapova, Markus Metzler, Juergen Brunner, Anna Hilfanova, Brindusa Ruxandra Capilna, Pere Soler-Palacín, Arnau Antolí, Horst von Bernuth, Vassilios Lougaris, Maria Carrabba, Bernd H. Belohradsky, Julian Thalhammer, Nathalie de Vergnes, Peter Olbrich, Peter Kopač, Leif G. Hanitsch, Alexandra Nieters, Filomeen Haerynck, Juliana Gabzdilova, Sezin Aydemir, Rabab El Hawary, Patrick F.K. Yong, Maria Giovanna Danieli, Alberto Tommasini, Sandra Steinmann, Ulrich Baumann, Figen Dogu, Elisabeth Förster-Waldl, Carolina Marasco, Donato Amodio, Lorenzo Lodi, Xavier Solanich, Caterina Cancrini, Brigita Sitkauskiene, Torsten Witte, Clementina Vanessa, Nima Rezaei, Jean-Christophe Goffard, Kirsten Wittke, Emmanouil Liatsis, Helen Baxendale, Susana L. Silva, Bodo Grimbacher, Henrike Ritterbusch, Evangelia Farmaki, Safa Meshaal, Sujal Ghosh, Larysa Kostyuchenko, David Edgar, Simone Cesaro, R Zeuner, Nerea Salmón Rodríguez, Isabella Quinti, Stephan Ehl, Pauline Brosselin, Joerg C. Henes, Pilar Llobet Agulló, Rosa Maria Dellepiane, Andrea Meinhardt, Marina Kojić, Georgios Sogkas, Stephan Borte, Catharina Schuetz, Suheyla Ocak, Karin Marschall, Lukas M. Gasteiger, Stefan Raffac, Sofia Tantou, Sadia Noorani, Matthaios Speletas, Philippe Randrianomenjanahary, Ursula Holzer, Ayca Kiykim, Johannes G. Liese, Angelo Vacca, Gisela Fecker, Ekrem Unal, Koen J. van Aerde, Alba Parra-Martínez, Kaan Boztug, Sophie Stiehler, Sybille Landwehr-Kenzel, Claudio Pignata, Jennifer Neubert, Janine Reichenbach, Shahnaz Parvin, Sarah Goddard, Andrea Schroll, Dirk Holzinger, Asghar Aghamohammadi, Hassan Abolhassani, Johannes Trück, Estela Paz-Artal, Shereen M. Reda, Anna Shcherbina, Maria Raptaki, Jaroslava Orosova, Beata Wolska-Kuśnierz, Tessa Kerre, Gerrit Ahrenstorf, Ben Zion Garty, Dirk Foell, Benjamin Becker, Ulrike F. Demel, Androniki Kapousouzi, Abraham Rutgers, Klaus Warnatz, Gemma Rocamora Blanch, Stephan Rusch, Luis M. Allende, Dalia Abd Elaziz, Safa Baris, Jorisvan Montfrans, Dominik T. Schneider, Raphael Scheible, Juana Gil-Herrera, Gerhard Kindle, Annarosa Soresina, Giovanna Fabio, Uwe Wintergerst, Emilia Faria, Maria Fasshauer, Silvia Ricci, Aisha Elmarsafy, Barbara Pietrucha, Carsten Speckmann, Nizar Mahlaoui, Ulrich Heininger, Isabelle Meyts, Matthew Buckland, Efimia Papadopoulou-Alataki, Robin Kobbe, A Herwadkar, Sebastian F. N. Bode, Ali Sobh, László Maródi, Baldassarre Martire, Chiara Azzari, Maximilian Heeg, Katja Masjosthusmann, Michael H. Albert, Matteo Chinello, Juan Luis Santos-Pérez, Aarnoud Huissoon, Tanya I. Coulter, Hendrik Schulze-Koops, Norbert Graf, Radwa Alkady, Jolanta Bernatoniene, Seraina Prader, Alenka Gagro, Joachim Roesler, Taco W. Kuijpers, Ewa Więsik-Szewczyk, Maria Elena Maccari, Conrad Ferdinand Lippert, Miriam González-Amores, Johannes Dirks, Daniel E Pleguezuelo, Christof M. Kramm, Anders Fasth, Volker Schuster, Olov Ekwall, Nikolaus Rieber, Javier Carbone, Petra Kaiser-Labusch, Diana Ernst, Lucia Augusta Baselli, Luis Ignacio Gonzalez-Granado, Maria Kanariou, Stefanie S. V. Henriet, Sigune Goldacker, Kerstin Felgentreff, Oana Joean, Fine Roosens, Fabian Hauck, Eva C. Schwaneck, Milos Jesenak, Manfred Hoenig, Lenka Kapustova, Christoph Boesecke, Alain Fischer, Sara Pereira da Silva, Julia Körholz, Ansgar Schulz, Carolynne Schwarze-Zander, Mikko Seppänen, Nermeen Galal, Nora Naumann-Bartsch, Tomaz Garcez, Peter Ciznar, Klara M. Posfay-Barbe, Zelimir Pavle Eric, Reinhold E. Schmidt, Hermann J. Girschick, Sabine Heine, Anika-Kerstin Biegner, Annick A. J. M. van de Ven, Stefan Schreiber, J. Merlijn van den Berg, Nurit Assia Batzir, Alexandra Jablonka, Kim Stol, Gregor Dückers, Antonios G.A. Kolios, Ioannis Kakkas, Christian Klemann, Marina N. Guseva, Sofia Grigoriadou, Elif Karakoc-Aydiner, Antonio Marzollo, Peter D. Arkwright, Urs C. Steiner, Sara Sebnem Kilic, Romina Dieli-Crimi, Gergely Kriván, Monika Sparber-Sauer, Marco Cazzaniga, Fulvio Porta, Paraskevi Maggina, Tomas Milota, Robbert G. M. Bredius, Martine Pergent, Klaus Tenbrock, Jana Pachlopnik Schmid, Florentia Dimitriou, Cathal Laurence Steele, Helen Bourne, Anna Bobcakova, Gerd Horneff, Judith Potjewijd, Marc Schmalzing, Tobias Ankermann, Paul Ryan, Oksana Boyarchuk, Necil Kutukculer, Carl Friedrich Classen, Zita Chovancová, Moira Thomas, Cinzia Milito, Michaela Bitzenhofer-Grüber, Faranaz Atschekzei, Eva Hlaváčková, Viviana Moschese, Julie Smet, Hans-Hartmut Peter, Carla Teixeira, Sabine M El-Helou, Suzanne de Kruijf Bazen, Helmut Wittkowski, Donate Jakoby, Marina Garcia-Prat, Esther de Vries, Richard Herriot, Sven Kracker, Alessandro Plebani, Lisa Göschl, Laura Hora Marques, Anna Sediva, Jiri Litzman, Mark M. Gompels, Renate Krüger, Şefika İlknur Kökçü Karadağ, Nadine Binder, Anna Szaflarska, Peter Jandus, Lisa Ibberson, Johann Greil, Ulf Schulze-Sturm, Mehtap Sirin, Aydan Ikinciogullari, Edyta Heropolitańska-Pliszka, Michael E. Weiss, Alla Skapenko, Lukas Wisgrill, Hana Alachkar, Uta Behrends, Silvia Sánchez-Ramón, Maria N. Hatzistilianou, Otilia Petrovicova, Darko Richter, Zoreh Nademi, Jürgen K. Rockstroh, Sohilla Lotfy, Markus G. Seidel, Timothy Ronan Leahy, Audra Blažienė

Publikováno v: Journal of Allergy and Clinical Immunology, 148(5), 1332-1341.e5. MOSBY-ELSEVIER
Journal of allergy and clinical immunology, 148(5), 1332-1341.e5. Mosby Inc.

BACKGROUND: Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection suscepti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::002c11f0424fbe10dfdb30679532b4b5
https://research.rug.nl/en/publications/5db77f56-3077-43ca-b935-ffa87bb6cbfb

Non-invasive diagnostics of pathogenic bacteria using a breath sampler in children with cystic fibrosis

Autor: Koen J van Aerde, Aniek Leegstraten, Corné H van den Kieboom, Peter Merkus, Coosje Sintnicolaas, Sami O Simons, Michiel van der Flier, Ronald de Groot, Marien I de Jonge

Publikováno v: Journal of Breath Research, 16(4):046005. IOP Publishing Ltd.
Journal of Breath Research, 16
Journal of Breath Research, 16, 4

Cystic fibrosis (CF) is a common autosomal recessive disease causing thick, viscous secretions leading to pulmonary infections with pathogenic bacteria. As part of routine patient care, colonization and infection with these bacteria is monitored with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4156827d8202735cb1fd5e92abd83e09
https://pubmed.ncbi.nlm.nih.gov/35868248

Breath Test: Clinical Application of Breath Analysis in Lower Respiratory Tract Infection Diagnosis

Autor: Koen J, van Aerde, Robin, Jansen, Peter J, Merkus, Michiel, van der Flier

Publikováno v: The Pediatric infectious disease journal. 40(11)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1fe70473ea490fbbe096a7212507e292
https://pubmed.ncbi.nlm.nih.gov/34591801