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2. Effects of an exclusive human-milk diet in preterm neonates on early vascular aging risk factors (NEOVASC): study protocol for a multicentric, prospective, randomized, controlled, open, and parallel group clinical trial

Author

Mitterer, Wolfgang, Binder, Christoph, Blassnig-Ezeh, Anya, Auer-Hackenberg, Lorenz, Berger, Angelika, Simma, Burkhard, Wald, Martin, Lee, Martin, and Kiechl-Kohlendorfer, Ursula

Subjects
Paediatrics, Biomedical and Clinical Sciences, Clinical Trials and Supportive Activities, Pediatric, Cardiovascular, Infant Mortality, Prevention, Nutrition, Clinical Research, Preterm, Low Birth Weight and Health of the Newborn, Pediatric Research Initiative, Perinatal Period - Conditions Originating in Perinatal Period, Heart Disease, Reproductive health and childbirth, Good Health and Well Being, Adult, Aging, Animals, Austria, Cattle, Diet, Female, Humans, Infant, Infant, Newborn, Infant, Premature, Milk, Human, Pregnancy, Premature Birth, Prospective Studies, Randomized Controlled Trials as Topic, Risk Factors, Neonatology, Prematurity, Preterm, Human milk, Human-milk-based fortifier, Cardiovascular risk, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Cardiovascular System & Hematology, General & Internal Medicine, Clinical sciences, Epidemiology, Health services and systems
Abstract

BackgroundPreterm birth accounts for approximately 11% of all livebirths globally. Due to improvements in perinatal care, more than 95% of these infants now survive into adulthood. Research has indicated a robust association between prematurity and increased cardiovascular risk factors and cardiovascular mortality. While the innate adverse effects of prematurity on these outcomes have been demonstrated, therapeutic strategies on the mitigation of these concerning developments are lacking. The primary objective of the NEOVASC clinical trial is therefore to investigate whether the administration of a prolonged exclusive human-milk diet in preterm infants is capable of alleviating the harmful effects of preterm birth on the early development of cardiovascular risk factors.MethodsThe NEOVASC study is a multicentric, prospective, randomized, controlled, open, and parallel group clinical trial conducted in four Austrian tertiary neonatal care facilities. The purpose of the present trial is to investigate the effects of a prolonged exclusive human-milk-diet devoid of bovine-milk-based food components on cardiovascular and metabolic risk factors at 1, 2, and 5 years of corrected age. Primary outcomes include assessments of fasting blood glucose levels, blood pressure levels, and the distensibility of the descending aorta using validated echocardiographic protocols at 5 years of corrected age. The test group, which consists of 200 preterm infants, will therefore be compared to a control group of 100 term-born infants and a historical control group recruited previously.DiscussionGiven the emerging implications of an increased cardiovascular risk profile in the potentially growing population of preterm infants, further research on the mitigation of long-term morbidities in formerly preterm infants is urgently warranted. Further optimizing preterm infants' nutrition by removing bovine-milk-based food components may therefore be an interesting approach worth pursuing.Trial registrationClinicalTrials.gov NCT04413994 . Registered on 4 June 2020.

Published
2021

7. Two-year neurodevelopmental outcome in extremely preterm-born children: The Austrian Preterm Outcome Study Group.

Author

Kiechl-Kohlendorfer, Ursula, Simma, Burkhard, Berger, Angelika, Urlesberger, Berndt, Wald, Martin, Haiden, Nadja, Fuiko, Renate, and Ndayisaba, Jean-Pierre

Subjects
*NEURAL development, *PREMATURE infants, *NEUROLOGIC examination, *GESTATIONAL age, *INFANT development
Abstract

Aim: The current study determined the neurodevelopmental outcome of extremely preterm infants at 2 years of age. Methods: All live-born infants 23-27 weeks of gestation born between 2011 and 2020 in Austria were included in a prospective registry. Neurodevelopmental outcome at 2 years of corrected age was assessed using Bayley Scales of Infant Development for both motor and cognitive scores, along with a neurological examination and an assessment of neurosensory function. Results: 2378 out of 2905 (81.9%) live-born infants survived to 2 years of corrected age. Follow-up data were available for 1488 children (62.6%). Overall, 43.0% had no, 35.0% mild and 22.0% moderate-to-severe impairment. The percentage of children with moderate-to-severe neurodevelopmental impairment decreased with increasing gestational age and was 31.4%, 30.5%, 23.3%, 19.0% and 16.5% at 23, 24, 25, 26 and 27 weeks gestational age (p < 0.001). Results did not change over the 10-year period. In multivariate analysis, neonatal complications as well as male sex were significantly associated with an increased risk of neurodevelopmental impairment. Conclusion: In this cohort study, a 22.0% rate of moderate-to-severe neurodevelopmental impairment was observed among children born extremely preterm. This national data is important for both counselling parents and guiding the allocation of health resources. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Psychomotor and Cognitive Outcome in Very Preterm Infants in Vorarlberg, Austria, 2007–2019.

Author

Jenni, Fabio, Konzett, Karin, Gang, Stefanie, Sparr, Verena, and Simma, Burkhard

Subjects
PREMATURE infants, PATENT ductus arteriosus, BIRTH weight, BRONCHOPULMONARY dysplasia, INFANT development
Abstract

Aim The aim of this study was to analyze neurodevelopmental outcome of very and extremely preterm infants in Vorarlberg, Austria, accessed with neurodevelopmental testing, at the corrected age of 24 months. This article also compared these results with (inter)national data and analyzed the impact of perinatal parameters. Methods Population-based, retrospective multicenter study with data on very and extremely preterm infants born in Vorarlberg from 2007 to 2019 assessed with Bayley Scales of Infant Development (BSID-II/Bayley-III). Results Included were 264 infants with a mean age of 29.0 (± 2.1) weeks of gestational age and a mean birth weight of 1177 (± 328.26) g; 172 infants underwent a BSID-II, 92 a Bayley-III assessment. The psychomotor developmental index (PDI) and mental developmental index (MDI) showed mean scores of 99.6 (± 14.4) and 91 (± 20.4), respectively. Adverse outcomes (scores <70) were assessed in 4.2% for PDI and 15.5% for MDI. In the extremely preterm group (n = 79), results for mean PDI were 100.1 (± 16.8) and for mean MDI 88.4 (± 22.4). Accordingly, adverse outcomes were assessed in 5.1% for PDI and in 20.3% for MDI. In addition to bronchopulmonary dysplasia and intraventricular hemorrhage Grade 3-4, head circumference at birth and patent ductus arteriosus were also identified as risk factors for poor outcome. Conclusion This study showed a remarkably good neurodevelopmental outcome in preterm infants with low rates of adverse outcome, similar to (inter)national reports, especially in the group of extremely preterm infants. Research is needed to explore the role of social factors and infants' environment, especially cognitive outcome and language skills. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Doublesex and mab-3 related transcription factor 1 (DMRT1) is a sex-specific genetic determinant of childhood-onset asthma and is expressed in testis and macrophages

Author

Schieck, Maximilian, Schouten, Jan P., Michel, Sven, Suttner, Kathrin, Toncheva, Antoaneta A., Gaertner, Vincent D., Illig, Thomas, Lipinski, Simone, Franke, Andre, Klintschar, Michael, Kalayci, Omer, Sahiner, Umit M., Birben, Esra, Melén, Erik, Pershagen, Göran, Freidin, Maxim B., Ogorodova, Ludmila M., Granell, Raquel, Henderson, John, Brunekreef, Bert, Smit, Henriëtte A., Vogelberg, Christian, von Berg, Andrea, Bufe, Albrecht, Heinzmann, Andrea, Laub, Otto, Rietschel, Ernst, Simma, Burkhard, Genuneit, Jon, Jonigk, Danny, Postma, Dirkje S., Koppelman, Gerard H., Vonk, Judith M., Timens, Wim, Boezen, H. Marike, and Kabesch, Michael

Published
2016
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15. The newborn delivery room of tomorrow: emerging and future technologies

Author

Batey, Natalie, Henry, Caroline, Garg, Shalabh, Wagner, Michael, Malhotra, Atul, Valstar, Michel, Smith, Thomas, Sharkey, Don, Niemuth, Mara, Küster, Helmut, Rozycki, Henry, Solevåg, Anne Lee, Lara-Cantón, Inmaculada, Badurdeen, Shiraz, Dekker, Janneke, Davis, Peter, Roberts, Calum, te Pas, Arjan, Vento, Máximo, Simma, Burkhard, den Boer, Marieke, Herrick, Heidi Meredith, Rüdiger, Mario, Kaufmann, Maxi, Aichner, Heidi, Gupta, Samir, deBoode, Willem, Roehr, Charles Christoph, Nakstad, Britt, and Hooper, Stuart

Subjects
Pediatrics, Perinatology and Child Health
Abstract

Abstract Advances in neonatal care have resulted in improved outcomes for high-risk newborns with technologies playing a significant part although many were developed for the neonatal intensive care unit. The care provided in the delivery room (DR) during the first few minutes of life can impact short- and long-term neonatal outcomes. Increasingly, technologies have a critical role to play in the DR particularly with monitoring and information provision. However, the DR is a unique environment and has major challenges around the period of foetal to neonatal transition that need to be overcome when developing new technologies. This review focuses on current DR technologies as well as those just emerging and further over the horizon. We identify what key opinion leaders in DR care think of current technologies, what the important DR measures are to them, and which technologies might be useful in the future. We link these with key technologies including respiratory function monitors, electoral impedance tomography, videolaryngoscopy, augmented reality, video recording, eye tracking, artificial intelligence, and contactless monitoring. Encouraging funders and industry to address the unique technological challenges of newborn care in the DR will allow the continued improvement of outcomes of high-risk infants from the moment of birth. Impact Technological advances for newborn delivery room care require consideration of the unique environment, the variable patient characteristics, and disease states, as well as human factor challenges. Neonatology as a speciality has embraced technology, allowing its rapid progression and improved outcomes for infants, although innovation in the delivery room often lags behind that in the intensive care unit. Investing in new and emerging technologies can support healthcare providers when optimising care and could improve training, safety, and neonatal outcomes.

Published
2022

17. Additional file 1 of Effects of an exclusive human-milk diet in preterm neonates on early vascular aging risk factors (NEOVASC): study protocol for a multicentric, prospective, randomized, controlled, open, and parallel group clinical trial

Author

Mitterer, Wolfgang, Binder, Christoph, Blassnig-Ezeh, Anya, Auer-Hackenberg, Lorenz, Berger, Angelika, Simma, Burkhard, Wald, Martin, Lee, Martin, and Kiechl-Kohlendorfer, Ursula

Abstract

Additional file 1: Figure S1. Trial flow chart.

Published
2021
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18. Additional file 2 of Effects of an exclusive human-milk diet in preterm neonates on early vascular aging risk factors (NEOVASC): study protocol for a multicentric, prospective, randomized, controlled, open, and parallel group clinical trial

Author

Mitterer, Wolfgang, Binder, Christoph, Blassnig-Ezeh, Anya, Auer-Hackenberg, Lorenz, Berger, Angelika, Simma, Burkhard, Wald, Martin, Lee, Martin, and Kiechl-Kohlendorfer, Ursula

Abstract

Additional file 2. SPIRIT 2013 Checklist: Recommended items to address in a clinical trial protocol and related documents.

Published
2021
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19. Das Fetale Tabaksyndrom – Ein Statement der Österreichischen Gesellschaften für Allgemein- und Familienmedizin (ÖGAM), Gynäkologie und Geburtshilfe (ÖGGG), Hygiene, Mikrobiologie und Präventivmedizin (ÖGHMP), Kinder- und Jugendheilkunde (ÖGKJ) sowie Pneumologie (ÖGP)

Author

Horak, Jr., Fritz, Fazekas, Tamas, Zacharasiewicz, Angela, Eber, Ernst, Kiss, Herbert, Lichtenschopf, Alfred, Neuberger, Manfred, Schmitzberger, Rudolf, Simma, Burkhard, Wilhelm-Mitteräcker, Andree, and Riedler, Josef

Published
2012
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22. Identification of regulatory variants associated with genetic susceptibility to meningococcal disease

Author

Borghini, Lisa, Png, Eileen, Binder, Alexander, Wright, Victoria J, Pinnock, Ellie, de Groot, Ronald, Hazelzet, Jan, Emonts, Marieke, Van der Flier, Michiel, Schlapbach, Luregn J, Anderson, Suzanne, Secka, Fatou, Salas, Antonio, Fink, Colin, Carrol, Enitan D, Pollard, Andrew J, Coin, Lachlan J, Kuijpers, Taco W, Martinon-Torres, Federico, Zenz, Werner, Levin, Michael, Hibberd, Martin L, Davila, Sonia, Gormley, Stuart, Hamilton, Shea, Herberg, Jethro, Hourmat, Bernardo, Hoggart, Clive, Kaforou, Myrsini, Sancho-Shimizu, Vanessa, Abdulla, Amina, Agapow, Paul, Bartlett, Maeve, Bellos, Evangelos, Eleftherohorinou, Hariklia, Galassini, Rachel, Inwald, David, Mashbat, Meg, Menikou, Stefanie, Mustafa, Sobia, Nadel, Simon, Rahman, Rahmeen, Thakker, Clare, Bokhandi, S, Power, Sue, Barham, Heather, Pathan, N, Ridout, Jenna, White, Deborah, Thurston, Sarah, Faust, S, Patel, S, McCorkell, Jenni, Davies, P, Cratev, Lindsey, Navarra, Helen, Carter, Stephanie, Ramaiah, R, Patel, Rekha, Tuffrey, Catherine, Gribbin, Andrew, McCready, Sharon, Peters, Mark, Hardy, Katie, Standing, Fran, O'Neill, Lauren, Abelake, Eugenia, Deep, Akash, Nsirim, Eniola, Willis, Louise, Young, Zoe, Royad, C, White, Sonia, Fortune, PM, Hudnott, Phil, Alvez Gonzalez, Fernando, Barral-Arca, Ruth, Cebey-Lopez, Miriam, Jose Curras-Tuala, Maria, Garcia, Natalia, Garcia Vicente, Luisa, Gomez-Carballa, Alberto, Gomez Rial, Jose, Grela Beiroa, Andrea, Justicia Grande, Antonio, Leborans Iglesias, Pilar, Martinez Santos, Alba Elena, Martinon-Torres, Nazareth, Martinon Sanchez, Jose Maria, Mosquera Perez, Belen, Obando Pacheco, Pablo, Pardo-Seco, Jacobo, Pischedda, Sara, Rivero Calle, Irene, Rodriguez-Tenreiro, Carmen, Redondo-Collazo, Lorenzo, Seren Fernandez, Sonia, Porto Silva, Maria del Sol, Vega, Ana, Beatriz Reyes, Susana, Leon Leon, Maria Cruz, Navarro Mingorance, Alvaro, Gabaldo Barrios, Xavier, Onate Vergara, Eider, Concha Torre, Andres, Vivanco, Ana, Fernandez, Reyes, Gimenez Sanchez, Francisco, Sanchez Forte, Miguel, Rojo, Pablo, Ruiz Contreras, J, Palacios, Alba, Navarro, Marisa, Alvarez Alvarez, Cristina, Jose Lozano, Maria, Carreras, Eduardo, Brio Sanagustin, Sonia, Neth, Olaf, Martinez Padilla, Ma del Carmen, Prieto Tato, Luis Manuel, Guillen, Sara, Fernandez Silveira, Laura, Moreno, David, van Furth, AM Tutu, van der Flier, M, Boeddha, NP, Driessen, GJA, Pajkrt, D, Sanders, EAM, van de Beek, D, van der Ende, A, Philipsen, HLA, Adeel, AOA, Breukels, MA, Brinkman, DMC, de Korte, CCMM, de Vries, E, de Waal, WJ, Dekkers, R, Dings-Lammertink, A, Doedens, RA, Donker, AE, Dousma, M, Faber, TE, Gerrits, GPJM, Gerver, JAM, Heidema, J, Homan-van der Veen, J, Jacobs, MAM, Jansen, NJG, Kawczynski, P, Klucovska, K, Kneyber, MCJ, Koopman-Keemink, Y, Langenhorst, VJ, Leusink, J, Loza, BF, Merth, IT, Miedema, CJ, Neeleman, C, Noordzij, JG, Obihara, CC, van Overbeek-van Gils, ALT, Poortman, GH, Potgieter, ST, Potjewijd, J, Rosias, PPR, Sprong, T, ten Tussher, GW, Thio, BJ, Tramper-Stranders, GA, van Deuren, M, van der Meer, H, van Kuppevelt, AJM, van Wermeskerken, AM, Verwijs, WA, Wolfs, TFW, Agyeman, Philipp, Aebi, Christoph, Berger, Christoph, Giannoni, Eric, Stocker, Martin, Posfay-Barbe, Klara M, Heininger, Ulrich, Bernhard-Stirnemann, Sara, Niederer-Loher, Anita, Kahlert, Christian, Hasters, Paul, Relly, Christa, Baer, Walter, Paulus, Stephane, Frederick, Hannah, Jennings, Rebecca, Johnston, Joanne, Kenwright, Rhian, Agbeko, Rachel, Bojang, Kalifa, Sarr, Isatou, Kebbeh, Ngane, Sey, Gibbi, Saidykhan, Momodou, Cole, Fatoumatta, Thomas, Gilleh, Antonio, Martin, Walcher, Wolfgang, Geishofer, Gotho, Klobassa, Daniela, Martin, Mueller, Pfurtscheller, Klaus, Reiter, Karl, Roedl, Siegfried, Zobel, Gerfried, Zoehrer, Bettina, Toepke, Baerbel, Fucik, Peter, Gabriel, Markwart, Penzien, Johann M, Diab, Gedeon, Miething, Robert, Deeg, KH, Hammer, Jurg, Varnholt, Verena, Schmidt, Andreas, Bindl, Lutz, Sillaber, Ursula, Huemer, Christian, Meier, Primrose, Simic-Schleicher, G, Markart, Markus, Pfau, Eberhard, Broede, Hans, Ausserer, Bernd, Kalhoff, Hermann, Arpe, Volker, Schweitzer-Krantz, Susanne, Kasper, Johannes-Martin, Loranth, Kathrin, Bittrich, Hans J, Simma, Burkhard, Klinge, Jens, Fedlmaier, Michael, Weigand, Nicola, Herting, Egbert, Grube, Regina, Fusch, Christoph, Gruber, Alois, Schimmel, Ulf, Knaufer-Schiefer, Suzanne, Laessig, Wolfgang, Hennenberger, Axel, von der Wense, Axel, Tillmann, Roland, Schwarick, Juergen, Sitzmann, Friedrich C, Streif, Werner, Mueller, Herbert, Kurnik, Peter, Groneck, Peter, Weiss, Ute, Groeblacher-Roth, Helene, Bensch, Juergen, Moser, Reinhard, Schwarz, Rudolf, Lenz, Kurt, Hofmann, Thomas, Goepel, Wolfgang, Schulz, Dietrich, Berger, Thomas, Hauser, Erwin, Foerster, Kai Martin, Peters, Jochen, Nicolai, T Homas, Kumlien, Bjoern, Beckmann, Regina, Seitz, Christiane, Hueseman, D, Schuermann, Roland, Ta, Van Hop, Weikmann, Eckart, Evert, W, Hautz, Juergen, Seidenberg, Juergen, Wocko, Lucia, Luigs, Petra, Reiter, Hans-Ludwig, Quietzach, J, Koenig, Michael, Herrmann, Johanna, Mitter, Horst, Seidler, Ekkehard, Maak, Bernhard, Sperl, Wolfgang, Zwiauer, Karl, Meissl, Manfred, Koch, Reinhard, Cremer, Manfred, Breuer, HA, Goerke, W, Nossal, Robert, Pernice, Walter, Brangenberg, Ralf, Salzer, Hans R, Koch, Hartmut, Schaller, Gerhard, Paky, Franz, Strasser, Friedrich, Eitelberger, Franz, Sontheimer, D, Lischka, Andreas, Kronberger, Martina, Dilch, Alfred, Scheibenpflug, Christian, Bruckner, Robert, Mahler, Klaus, Runge, Klaus, Kunze, Wolfgang, Schermann, Peter, Consortium, EUCLIDS, European Commission, Meningitis Research Foundation, National Institute for Health Research (UK), Newcastle Biomedical Research Centre, Newcastle University, Newcastle upon Tyne Hospitals NHS Foundation Trust, Instituto de Salud Carlos III, Xunta de Galicia, Wyeth Farma, Fundación Instituto de Investigación Sanitaria de Santiago de Compostela, Novartis, Swiss National Science Foundation, Swiss Society of Intensive Care Medicine, Gottfried und Julia Bangerter-Rhyner-Stiftung, Vinetum and Borer Foundation, Foundation for the Health of Children and Adolescents, Austrian National Bank, University of Zurich, Borghini, Lisa, Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría, Png, Eileen [0000-0001-5586-6395], Wright, Victoria J [0000-0001-7826-1516], Schlapbach, Luregn J [0000-0003-2281-2598], Salas, Antonio [0000-0002-2336-702X], Martinon-Torres, Federico [0000-0002-9023-581X], Apollo - University of Cambridge Repository, ARD - Amsterdam Reproduction and Development, AII - Infectious diseases, Paediatric Infectious Diseases / Rheumatology / Immunology, Neurology, ANS - Neuroinfection & -inflammation, Medical Microbiology and Infection Prevention, Pediatrics, Public Health, Posfay Barbe, Klara, Critical care, Anesthesiology, Peri-operative and Emergency medicine (CAPE), APH - Aging & Later Life, Amsterdam Reproduction & Development (AR&D), and Pediatric surgery

Subjects
0301 basic medicine, Candidate gene, Hypopharyngeal Neoplasms / microbiology, Meningococcal Infections / microbiology, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], MathematicsofComputing_GENERAL, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], lcsh:Medicine, Neisseria meningitidis, Regulatory Sequences, Nucleic Acid, Cohort Studies, 0302 clinical medicine, ComputingMethodologies_SYMBOLICANDALGEBRAICMANIPULATION, Hypopharyngeal Neoplasms / pathology, BINDING, Tumor Cells, Cultured, lcsh:Science, Genetics, Multidisciplinary, ddc:618, Cultured, TheoryofComputation_GENERAL, High-Throughput Nucleotide Sequencing, Genomics, Phenotype, 3. Good health, ddc, Tumor Cells, Multidisciplinary Sciences, GENOME, Science & Technology - Other Topics, Neisseria meningitidis / isolation & purification, Single-nucleotide polymorphism, 610 Medicine & health, KAPPA-B, Biology, Hypopharyngeal Neoplasms / genetics, Polymorphism, Single Nucleotide, Article, Meningococcal Infections / epidemiology, 03 medical and health sciences, SEQUENCE VARIATION, Genetic predisposition, Journal Article, Humans, Meningitis, Meningococcal Infections / genetics, Genetic Predisposition to Disease, Nucleic Acid, Polymorphism, General, Gene, Genotyping, Neisseria meningitidis / genetics, Genetic Association Studies, Genetic association, Genetic association study, 1000 Multidisciplinary, Science & Technology, Hypopharyngeal Neoplasms, genetic variants, meningococcal disease, lcsh:R, Single Nucleotide, EUCLIDS consortium, Gene regulation, Meningococcal Infections, 030104 developmental biology, 10036 Medical Clinic, Case-Control Studies, lcsh:Q, Software_PROGRAMMINGLANGUAGES, Regulatory Sequences, 030217 neurology & neurosurgery
Abstract

EUCLIDS consortium., Non-coding genetic variants play an important role in driving susceptibility to complex diseases but their characterization remains challenging. Here, we employed a novel approach to interrogate the genetic risk of such polymorphisms in a more systematic way by targeting specific regulatory regions relevant for the phenotype studied. We applied this method to meningococcal disease susceptibility, using the DNA binding pattern of RELA – a NF-kB subunit, master regulator of the response to infection – under bacterial stimuli in nasopharyngeal epithelial cells. We designed a custom panel to cover these RELA binding sites and used it for targeted sequencing in cases and controls. Variant calling and association analysis were performed followed by validation of candidate polymorphisms by genotyping in three independent cohorts. We identified two new polymorphisms, rs4823231 and rs11913168, showing signs of association with meningococcal disease susceptibility. In addition, using our genomic data as well as publicly available resources, we found evidences for these SNPs to have potential regulatory effects on ATXN10 and LIF genes respectively. The variants and related candidate genes are relevant for infectious diseases and may have important contribution for meningococcal disease pathology. Finally, we described a novel genetic association approach that could be applied to other phenotypes., This work has been partially funded by the European Seventh Framework Programme for Research and Technological Development (FP7) under EUCLIDS Grant Agreement No. 279185. The UK meningococcal cohort was established with support from Meningitis Research Foundation through grants to Imperial College London. The Research from Newcastle partners was supported by the National Institute for Health Research Newcastle Biomedical Research Centre based at Newcastle Hospitals NHS Foundation Trust and Newcastle University. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health. The ESIGEM Research group activities were supported by grants from Instituto de Salud Carlos III (Proyecto de Investigación en Salud, Acción Estratégica en Salud: proyecto GePEM PI16/01478) (A.S.); Consellería de Sanidade, Xunta de Galicia (RHI07/2-intensificación actividad investigadora, PS09749 and 10PXIB918184PR), Instituto de Salud Carlos III (Intensificación de la actividad investigadora 2007–2016), Convenio de colaboración de investigación (Wyeth España-Fundación IDICHUS 2007–2011), Convenio de colaboración de investigación (Novartis España-Fundación IDICHUS 2010–2011), Fondo de Investigación Sanitaria (FIS; PI070069/PI1000540) del plan nacional de I + D + I and ‘fondos FEDER’ (F.M.T.). The Swiss Pediatric Sepsis study was funded by grants from the Swiss National Science Foundation (342730_153158/1), the Swiss Society of Intensive Care, the Bangerter Foundation, the Vinetum and Borer Foundation, and the Foundation for the Health of Children and Adolescents. The Western Europe Meningococcal Study was supported by grants no 8842, 10112 and 12710 of the Oesterreichische Nationalbank (Austria), grants A3-16.K-8/2008-11 and A3-16.K-8/2006–9 of the Department for Science and Research of the Styrian federal government (Austria) and the non for profit association ‘In Vita’, Graz (Austria).

Published
2019

32. Increased tacrolimus levels during diarrhea

Author

Hochleitner, Boris-W., Bösmüller, Claudia, Nehoda, Hermann, Frühwirt, Martin, Simma, Burkhard, Ellemunter, Helmut, Steurer, Wolfgang, Hochleitner, Elisabeth-O., Königsrainer, Alfred, and Margreiter, Raimund

Published
2001
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33. COVID-19 in children and adolescents in Europe: a multinational, multicentre cohort study

Author

Götzinger, Florian, primary, Santiago-García, Begoña, additional, Noguera-Julián, Antoni, additional, Lanaspa, Miguel, additional, Lancella, Laura, additional, Calò Carducci, Francesca I, additional, Gabrovska, Natalia, additional, Velizarova, Svetlana, additional, Prunk, Petra, additional, Osterman, Veronika, additional, Krivec, Uros, additional, Lo Vecchio, Andrea, additional, Shingadia, Delane, additional, Soriano-Arandes, Antoni, additional, Melendo, Susana, additional, Lanari, Marcello, additional, Pierantoni, Luca, additional, Wagner, Noémie, additional, L'Huillier, Arnaud G, additional, Heininger, Ulrich, additional, Ritz, Nicole, additional, Bandi, Srini, additional, Krajcar, Nina, additional, Roglić, Srđan, additional, Santos, Mar, additional, Christiaens, Christelle, additional, Creuven, Marine, additional, Buonsenso, Danilo, additional, Welch, Steven B, additional, Bogyi, Matthias, additional, Brinkmann, Folke, additional, Tebruegge, Marc, additional, Pfefferle, Jasmin, additional, Zacharasiewicz, Angela, additional, Berger, Angelika, additional, Berger, Roland, additional, Strenger, Volker, additional, Kohlfürst, Daniela S., additional, Zschocke, Anna, additional, Bernar, Benoît, additional, Simma, Burkhard, additional, Haberlandt, Edda, additional, Thir, Christina, additional, Biebl, Ariane, additional, Vanden Driessche, Koen, additional, Boiy, Tine, additional, Van Brusselen, Daan, additional, Bael, An, additional, Debulpaep, Sara, additional, Schelstraete, Petra, additional, Pavic, Ivan, additional, Nygaard, Ulrikka, additional, Glenthoej, Jonathan P., additional, Heilmann Jensen, Lise, additional, Lind, Ilona, additional, Tistsenko, Mihhail, additional, Uustalu, Ülle, additional, Buchtala, Laura, additional, Thee, Stephanie, additional, Kobbe, Robin, additional, Rau, Cornelius, additional, Schwerk, Nicolaus, additional, Barker, Michael, additional, Tsolia, Maria, additional, Eleftheriou, Irini, additional, Gavin, Patrick, additional, Kozdoba, Oksana, additional, Zsigmond, Borbàla, additional, Valentini, Piero, additional, Ivaškeviciene, Inga, additional, Ivaškevicius, Rimvydas, additional, Vilc, Valentina, additional, Schölvinck, Elisabeth, additional, Rojahn, Astrid, additional, Smyrnaios, Anastasios, additional, Klingenberg, Claus, additional, Carvalho, Isabel, additional, Ribeiro, Andreia, additional, Starshinova, Anna, additional, Solovic, Ivan, additional, Falcón, Lola, additional, Neth, Olaf, additional, Minguell, Laura, additional, Bustillo, Matilde, additional, Gutiérrez-Sánchez, Aida M., additional, Guarch Ibáñez, Borja, additional, Ripoll, Francesc, additional, Soto, Beatriz, additional, Kötz, Karsten, additional, Zimmermann, Petra, additional, Schmid, Hanna, additional, Zucol, Franziska, additional, Niederer, Anita, additional, Buettcher, Michael, additional, Cetin, Benhur S., additional, Bilogortseva, Olga, additional, Chechenyeva, Vera, additional, Demirjian, Alicia, additional, Shackley, Fiona, additional, McFetridge, Lynne, additional, Speirs, Lynne, additional, Doherty, Conor, additional, Jones, Laura, additional, McMaster, Paddy, additional, Murray, Clare, additional, Child, Frances, additional, Beuvink, Yvonne, additional, Makwana, Nick, additional, Whittaker, Elisabeth, additional, Williams, Amanda, additional, Fidler, Katy, additional, Bernatoniene, Jolanta, additional, Song, Rinn, additional, Oliver, Zoe, additional, and Riordan, Andrew, additional

Published
2020
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44. Nocturnal asthma is affected by genetic interactions between RORA and NPSR1

Author

Gaertner, Vincent D., Michel, Sven, Curtin, John A., Pulkkinen, Ville, Acevedo, Nathalie, Soderhall, Cilla, von Berg, Andrea, Bufe, Albrecht, Laub, Otto, Rietschel, Ernst, Heinzmann, Andrea, Simma, Burkhard, Vogelberg, Christian, Pershagen, Goeran, Melen, Erik, Simpson, Angela, Custovic, Adnan, Kere, Juha, Kabesch, Michael, Gaertner, Vincent D., Michel, Sven, Curtin, John A., Pulkkinen, Ville, Acevedo, Nathalie, Soderhall, Cilla, von Berg, Andrea, Bufe, Albrecht, Laub, Otto, Rietschel, Ernst, Heinzmann, Andrea, Simma, Burkhard, Vogelberg, Christian, Pershagen, Goeran, Melen, Erik, Simpson, Angela, Custovic, Adnan, Kere, Juha, and Kabesch, Michael

Abstract

BackgroundNeuropeptide S Receptor 1 (NPSR1) and Retinoid Acid Receptor-Related Orphan Receptor Alpha (RORA ) interact biologically, are both known candidate genes for asthma, and are involved in controlling circadian rhythm. Thus, we assessed (1) whether interactions between RORA and NPSR1 specifically affect the nocturnal asthma phenotype and (2) how this may differ from other asthma phenotypes. MethodsInteraction effects between 24 single-nucleotide polymorphisms (SNPs) in RORA and 35 SNPs in NPSR1 on asthma and nocturnal asthma symptoms were determined in 1432 subjects (763 asthmatics [192 with nocturnal asthma symptoms]; 669 controls) from the Multicenter Asthma Genetic in Childhood/International Study of Asthma and Allergies in Childhood studies. The results were validated and extended in children from the Manchester Asthma and Allergy Study (N=723) and the Children Allergy Milieu Stockholm and Epidemiological cohort (N=1646). ResultsRORA*NPSR1 interactions seemed to affect both asthma and nocturnal asthma. In stratified analyses, however, interactions mainly affected nocturnal asthma and less so asthma without nocturnal symptoms or asthma severity. Results were replicated in two independent cohorts and seemed to remain constant over time throughout youth. ConclusionRORA*NPSR1 interactions appear to be involved in mechanisms specific for nocturnal asthma. In contrast to previous studies focusing on the role of beta 2 receptor polymorphisms in nocturnal asthma as a feature of asthma control or severity in general, our data suggest that changes in circadian rhythm control are associated with nighttime asthma symptoms.

Published
2019

47. Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome

Author

Frühwirth, Martin, Janecke, Andreas R., Müller, Thomas, Carlton, Victoria E.H., Kronenberg, Florian, Offner, Felix, Knisely, A. S., Geleff, Silvana, Song, Eyun J., Simma, Burkhard, Königsrainer, Alfred, Margreiter, Raimund, van der Hagen, C. B., Eiklid, Kristin, Aagenaes, Øystein, Bull, Laura, and Ellemunter, Helmut

Published
2003

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