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4. Betreuung des gesunden Neugeborenen in Kreißsaal und Kinderzimmer: Empfehlungen der Arbeitsgruppe Neonatologie und Pädiatrische Intensivmedizin der Österreichischen Gesellschaft für Kinder- u. Jugendheilkunde (ÖGKJ)

Author

Simma, B., Kiechl-Kohlendorfer, U., Wald, M., Weissensteiner, M., Urlesberger, B., Berger, A., and Arbeitsgruppe Neonatologie und Pädiatrische Intensivmedizin der Österreichischen Gesellschaft für Kinder- u. Jugendheilkunde (ÖGKJ)

Published
2018
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7. A critical appraisal of tools for delivery room assessment of the newborn infant

Author

Niemuth, M., Kuster, H., Simma, B., Rozycki, H., Rudiger, M., Solevag, A.L., European Soc Paediat Res ESPR Neon, Roehr, C, and (ESPR), European Society for Paediatric Research

Subjects
Pediatrics, Perinatology and Child Health
Abstract

Assessment of an infant's condition in the delivery room represents a prerequisite to adequately initiate medical support. In her seminal paper, Virginia Apgar described five parameters to be used for such an assessment. However, since that time maternal and neonatal care has changed; interventions were improved and infants are even more premature. Nevertheless, the Apgar score is assigned to infants worldwide but there are concerns about low interobserver reliability, especially in preterm infants. Also, resuscitative interventions may preclude the interpretation of the score, which is of concern when used as an outcome parameter in delivery room intervention studies. Within the context of these changes, we performed a critical appraisal on how to assess postnatal condition of the newborn including the clinical parameters of the Apgar score, as well as selected additional parameters and a proposed new scoring system. The development of a new scoring system that guide clinicians in assessing infants and help to decide how to support postnatal adaptation is discussed. IMPACT: This critical paper discusses the reliability of the Apgar score, as well as additional parameters, in order to improve assessment of a newborn's postnatal condition. A revised neonatal scoring system should account for infant maturity and the interventions administered. Delivery room assessment should be directed toward determining how much medical support is needed and how the infant responds to these interventions.

Published
2021

9. The burden of pneumococcal meningitis in Austrian children between 2001 and 2008

Author

Klobassa, D. S., Zoehrer, B., Paulke-Korinek, M., Gruber-Sedlmayr, U., Pfurtscheller, K., Strenger, V., Sonnleitner, A., Kerbl, R., Ausserer, B., Arocker, W., Kaulfersch, W., Hausberger, B., Covi, B., Eitelberger, F., Vécsei, A., Simma, B., Birnbacher, R., Kurz, H., Zwiauer, K., Weghuber, D., Heuberger, S., Quehenberger, F., Kollaritsch, H., and Zenz, W.

Published
2014
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18. Incidence of hypo- and hyper-capnia in a cross-sectional European cohort of ventilated newborn infants

Author

van Kaam, Anton H, De Jaegere, Anne P, Rimensberger, Peter C, Debeer, A., Chemin, A., Norbert, K., Autret, F., Andreou, A., Kroon, A., Minić, A., Schwindt, J., Brouwers, H., van Reempts, P., Hummler, H., van Veenendaal, M., Sarafidis, K., Lopriore, E., Mosca, F., McCormick, K., Schaible, T., Jaarsma, A., Polimeni, V., Plavka, R., Patkai, J., Moriette, G., Valls, A., Soler, I., Clarke, P., Migliori, C., Hentschel, R., Sigalas, J., Ehlen, M., Fremerey, C., Roujou-Gris, M., Stamatin, M., Mok, Q., Ata, S., Günther, M., Kühr, J., Seitz, U., Vermeulen, M., Knol, R., Le Bouedec, S., Szekessy, D., Wauer, R., Petropoulou, C., Moreno Hernando, J., Jonsson, B., Mulder, T., Sweet, D., Herting, E., Goepel, W., Dimitriou, G., Stuchlíková, H., Baltogianni, M., Santillo, V., Ferrero, F., Arnault, I., Dort, J., Blanc, T., Rocha, G., Guimarães, H., Virella, D., Costa, A., Pedro Frutuoso, S., Biolek, J., Stoicescu, S., Schroth, M., Cirstoveanu, C., de Boode, W., Medbo, S., Müller-Hansen, I., Poets, C., Riedel, T., Palmer, K., Martano, C., Stucin Gantar, I., Biban, P., Chatfield, S., Ghesquiere, J., Theret, B., Samperiz, S., Berger, T., Rigo, V., Balato, A., Gresa Munoz, M., Nunes, A., Molendijk, H., Beuger, S., Puzas, A., Hiedl, S., Genzel-Boroviczeny, O., Anhalt, D., Möller, J., Ingemansson, F., Halbertsma, F., de Cesaris, V., Saarela, T., Karagianni, P., Tsakalidis, C., Tølløfsrud, P., Bougatef, A., Sindelar, R., Wisborg, K., Brink Henriksen, T., Flumini, C., Carnielli, V., Giannuzzo, S., Dussart, A., Brault, D., Samy, M., van Wien, A., Cunha, M., Paulino, E., Schneider, H., Sandvoss, A., Dahlem, P., Koester, B., Olhanger, E., Wentzell, R., Ramos, C., Augusta Areias, M., Verber, I., Presta, G., Magaldi, R., Agostino, R., Lund, O., Ulriksen, J., Steder, U., Faas, D., Jensen, R., Baroutis, G., Gouder de Beauregard, V., Zaharie, G., Eng-Schwartz, A., Heldmann, M., Cezanne, T., Pereira, A., Nelle, M., Uxa, F., Norman, M., Siegel, J., Welsch, M., Schiffmann, H., Haftel, L., Wild, F., Bühr, P., Simma, B., Thirumurugan, A., Mortensen, S., Ciccotti, R., Carli, G., Milligan, D., Gerleve, H., Kumararatne, B., Hakansson, S., OʼDonovan, D., Reiterer, F., Rimensberger, P., Nietsch, L., Nakstad, B., Gancia, P., Swanstrom, S., Maton, P., Cavatorta, E., Tvarijonoviciene, R., Hogan, M., Zinn, P., Freff, M., Reigstad, H., Olariu, G., Gonçalves, G., Escumalha, M., Ornelas, H., Serrano, A., Anderssen, S., Garcia, P., Mendes Da Graça, A., Bender, C., Wald, M., Bohn, M., Schnelke, A., Trips, T., Ladekjaer, J., Thompson, F., Lindberg, E., Frigerio, M., Pederzini, F., De Nisi, G., Saur, G., Losa, M., Toma, A., Matu, E., Eckhardt, S., Bellettato, M., Fahnenstich, H., Hetzel, P., Bland, J., Øglænd, B., Lehtonen, L., Eichler, T., Roth, M., Meberg, A., Kuehn, T., and Emeis, M.

Published
2013
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19. Standardisierte entwicklungsneurologische Nachuntersuchung von Frühgeborenen mit weniger als 32 Schwangerschaftswochen: Konsensuspapier der Österreichischen Gesellschaft für Kinder- und Jugendheilkunde (ÖGKJ)

Author

Kiechl-Kohlendorfer, U., Brandstetter, B., Fuiko, R., Maurer-Fellbaum, U., Wiesinger-Eidenberger, G., Dietz, W., Berger, A., Pupp Peglow, U., Resch, B., Simma, B., and Für die Arbeitsgruppe Neonatologie und Pädiatrische Intensivmedizin der Österreichischen Gesellschaft für Kinder- und Jugendheilkunde (ÖGKJ), Wien

Published
2012
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21. Effect of Sustained Inflations vs Intermittent Positive Pressure Ventilation on Bronchopulmonary Dysplasia or Death Among Extremely Preterm Infants: The SAIL Randomized Clinical Trial

Author

Kirpalani, H., Ratcliffe, S.J., Keszler, M., Davis, P.G., Foglia, E.E., Pas, A. te, Fernando, M., Chaudhary, A., Localio, R., Kaam, A.H. van, Onland, W., Owen, L.S., Schmolzer, G.M., Katheria, A., Hummler, H., Lista, G., Abbasi, S., Klotz, D., Simma, B., Nadkarni, V., Poulain, F.R., Donn, S.M., Kim, H.S., Park, W.S., Cadet, C., Kong, J.Y., Smith, A., Guillen, U., Liley, H.G., Hopper, A.O., Tamura, M., LaLiberte, A., Hallinan, S., Mancini, T., White, D., Nuytenmans, D., Hal, L., dela Puerta, R., Huey, Q.B., Rajadurai, V.S., StelzI, W., Narayen, I., Brouwer, E., Nicolau, Y., Rundquist, M., Lopez, J., Bates, S., Bastrenta, P., Castoldi, F., Cavigioli, F., Thio, M., Argus, B., Mills, B., Twitchell, E., Ishiguro, A., Sung, S., Ahn, S.Y., Shin, S.H., Katheria, A.C., Brown, M., Steen, J., Rich, W., Mendler, M., Essers, J., Zernickel, M., Kurfiss, A., Aziz, K., Cheung, P.Y., Os, S. van, Fray, C., Steinhorn, R.H., Mirmiran, M., Pesavento, R., Hentschel, R., Young, T., Rhoades-Ryan, G., Mackley, A., Gray, K., SAIL Site Investigators, Neonatology, and ARD - Amsterdam Reproduction and Development

Subjects
Male, Resuscitation, Functional Residual Capacity, medicine.medical_treatment, Gestational Age, law.invention, Intermittent Positive-Pressure Ventilation, Positive-Pressure Respiration, Randomized controlled trial, law, Heart Rate, Intensive care, Intensive Care Units, Neonatal, Infant Mortality, Bradycardia, Medicine, Humans, Cardiopulmonary resuscitation, Hospital Mortality, Lung, Original Investigation, Bronchopulmonary Dysplasia, Asphyxia Neonatorum, business.industry, Postmenstrual Age, Infant, Newborn, Gestational age, Infant, Insufflation, General Medicine, medicine.disease, Bronchopulmonary dysplasia, Anesthesia, Infant, Extremely Premature, Breathing, Female, business
Abstract

Importance Preterm infants must establish regular respirations at delivery. Sustained inflations may establish lung volume faster than short inflations. Objective To determine whether a ventilation strategy including sustained inflations, compared with standard intermittent positive pressure ventilation, reduces bronchopulmonary dysplasia (BPD) or death at 36 weeks’ postmenstrual age without harm in extremely preterm infants. Design, Setting, and Participants Unmasked, randomized clinical trial (August 2014 to September 2017, with follow-up to February 15, 2018) conducted in 18 neonatal intensive care units in 9 countries. Preterm infants 23 to 26 weeks’ gestational age requiring resuscitation with inadequate respiratory effort or bradycardia were enrolled. Planned enrollment was 600 infants. The trial was stopped after enrolling 426 infants, following a prespecified review of adverse outcomes. Interventions The experimental intervention was up to 2 sustained inflations at maximal peak pressure of 25 cm H2O for 15 seconds using a T-piece and mask (n = 215); standard resuscitation was intermittent positive pressure ventilation (n = 211). Main Outcome and Measures The primary outcome was the rate of BPD or death at 36 weeks’ postmenstrual age. There were 27 prespecified secondary efficacy outcomes and 7 safety outcomes, including death at less than 48 hours. Results Among 460 infants randomized (mean [SD] gestational age, 25.30 [0.97] weeks; 50.2% female), 426 infants (92.6%) completed the trial. In the sustained inflation group, 137 infants (63.7%) died or survived with BPD vs 125 infants (59.2%) in the standard resuscitation group (adjusted risk difference [aRD], 4.7% [95% CI, −3.8% to 13.1%];P = .29). Death at less than 48 hours of age occurred in 16 infants (7.4%) in the sustained inflation group vs 3 infants (1.4%) in the standard resuscitation group (aRD, 5.6% [95% CI, 2.1% to 9.1%];P = .002). Blinded adjudication detected an imbalance of rates of early death possibly attributable to resuscitation (sustained inflation: 11/16; standard resuscitation: 1/3). Of 27 secondary efficacy outcomes assessed by 36 weeks’ postmenstrual age, 26 showed no significant difference between groups. Conclusions and Relevance Among extremely preterm infants requiring resuscitation at birth, a ventilation strategy involving 2 sustained inflations, compared with standard intermittent positive pressure ventilation, did not reduce the risk of BPD or death at 36 weeks’ postmenstrual age. These findings do not support the use of ventilation with sustained inflations among extremely preterm infants, although early termination of the trial limits definitive conclusions. Trial Registration clinicaltrials.gov Identifier:NCT02139800

Published
2019

22. Hague Rules on Business and Human Rights Arbitration

Author

Simma, B., Desierto, D., Rodríguez, M.D., Eijsbouts, A.J.A.J., Kriebaum, U., Lumerman, P., Makinwa, A., Meeran, R., Puig, S., Ratner, S., Sangiuolo, G., Scheltema, M.W., van Aaken, A., Yiannibas, K., RS: FdR IC Rechtspersonen, RS: FdR Institute ICGI, and Private Law

Published
2019

26. Identification of regulatory variants associated with genetic susceptibility to meningococcal disease

Author

Borghini, L, Png, E, Binder, A, Wright, VJ, Pinnock, E, de Groot, R, Hazelzet, J, Emonts, M, Van der Flier, M, Schlapbach, LJ, Anderson, S, Secka, F, Salas, A, Fink, C, Carrol, ED, Pollard, AJ, Coin, LJ, Kuijpers, TW, Martinon-Torres, F, Zenz, W, Levin, M, Hibberd, ML, Davila, S, Gormley, S, Hamilton, S, Herberg, J, Hourmat, B, Hoggart, C, Kaforou, M, Sancho-Shimizu, V, Abdulla, A, Agapow, P, Bartlett, M, Bellos, E, Eleftherohorinou, H, Galassini, R, Inwald, D, Mashbat, M, Menikou, S, Mustafa, S, Nadel, S, Rahman, R, Thakker, C, Bokhandi, S, Power, S, Barham, H, Pathan, N, Ridout, J, White, D, Thurston, S, Faust, S, Patel, S, McCorkell, J, Davies, P, Cratev, L, Navarra, H, Carter, S, Ramaiah, R, Patel, R, Tuffrey, C, Gribbin, A, McCready, S, Peters, M, Hardy, K, Standing, F, O'Neill, L, Abelake, E, Deep, A, Nsirim, E, Willis, L, Young, Z, Royad, C, White, S, Fortune, PM, Hudnott, P, Alvez Gonzalez, F, Barral-Arca, R, Cebey-Lopez, M, Jose Curras-Tuala, M, Garcia, N, Garcia Vicente, L, Gomez-Carballa, A, Gomez Rial, J, Grela Beiroa, A, Justicia Grande, A, Leborans Iglesias, P, Martinez Santos, AE, Martinon-Torres, N, Martinon Sanchez, JM, Mosquera Perez, B, Obando Pacheco, P, Pardo-Seco, J, Pischedda, S, Rivero Calle, I, Rodriguez-Tenreiro, C, Redondo-Collazo, L, Seren Fernandez, S, Porto Silva, MDS, Vega, A, Beatriz Reyes, S, Leon Leon, MC, Navarro Mingorance, A, Gabaldo Barrios, X, Onate Vergara, E, Concha Torre, A, Vivanco, A, Fernandez, R, Gimenez Sanchez, F, Sanchez Forte, M, Rojo, P, Ruiz Contreras, J, Palacios, A, Navarro, M, Alvarez Alvarez, C, Jose Lozano, M, Carreras, E, Brio Sanagustin, S, Neth, O, Martinez Padilla, MDC, Prieto Tato, LM, Guillen, S, Fernandez Silveira, L, Moreno, D, van Furth, AMT, 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, P, Aebi, C, Berger, C, Giannoni, E, Stocker, M, Posfay-Barbe, KM, Heininger, U, Bernhard-Stirnemann, S, Niederer-Loher, A, Kahlert, C, Hasters, P, Relly, C, Baer, W, Paulus, S, Frederick, H, Jennings, R, Johnston, J, Kenwright, R, Agbeko, R, Bojang, K, Sarr, I, Kebbeh, N, Sey, G, Saidykhan, M, Cole, F, Thomas, G, Antonio, M, Walcher, W, Geishofer, G, Klobassa, D, Martin, M, Pfurtscheller, K, Reiter, K, Roedl, S, Zobel, G, Zoehrer, B, Toepke, B, Fucik, P, Gabriel, M, Penzien, JM, Diab, G, Miething, R, Deeg, KH, Hammer, J, Varnholt, V, Schmidt, A, Bindl, L, Sillaber, U, Huemer, C, Meier, P, Simic-Schleicher, G, Markart, M, Pfau, E, Broede, H, Ausserer, B, Kalhoff, H, Arpe, V, Schweitzer-Krantz, S, Kasper, J-M, Loranth, K, Bittrich, HJ, Simma, B, Klinge, J, Fedlmaier, M, Weigand, N, Herting, E, Grube, R, Fusch, C, Gruber, A, Schimmel, U, Knaufer-Schiefer, S, Laessig, W, Hennenberger, A, von der Wense, A, Tillmann, R, Schwarick, J, Sitzmann, FC, Streif, W, Mueller, H, Kurnik, P, Groneck, P, Weiss, U, Groeblacher-Roth, H, Bensch, J, Moser, R, Schwarz, R, Lenz, K, Hofmann, T, Goepel, W, Schulz, D, Berger, T, Hauser, E, Foerster, KM, Peters, J, Nicolai, TH, Kumlien, B, Beckmann, R, Seitz, C, Hueseman, D, Schuermann, R, Ta, VH, Weikmann, E, Evert, W, Hautz, J, Seidenberg, J, Wocko, L, Luigs, P, Reiter, H-L, Quietzach, J, Koenig, M, Herrmann, J, Mitter, H, Seidler, E, Maak, B, Sperl, W, Zwiauer, K, Meissl, M, Koch, R, Cremer, M, Breuer, HA, Goerke, W, Nossal, R, Pernice, W, Brangenberg, R, Salzer, HR, Koch, H, Schaller, G, Paky, F, Strasser, F, Eitelberger, F, Sontheimer, D, Lischka, A, Kronberger, M, Dilch, A, Scheibenpflug, C, Bruckner, R, Mahler, K, Runge, K, Kunze, W, Schermann, P, Borghini, L, Png, E, Binder, A, Wright, VJ, Pinnock, E, de Groot, R, Hazelzet, J, Emonts, M, Van der Flier, M, Schlapbach, LJ, Anderson, S, Secka, F, Salas, A, Fink, C, Carrol, ED, Pollard, AJ, Coin, LJ, Kuijpers, TW, Martinon-Torres, F, Zenz, W, Levin, M, Hibberd, ML, Davila, S, Gormley, S, Hamilton, S, Herberg, J, Hourmat, B, Hoggart, C, Kaforou, M, Sancho-Shimizu, V, Abdulla, A, Agapow, P, Bartlett, M, Bellos, E, Eleftherohorinou, H, Galassini, R, Inwald, D, Mashbat, M, Menikou, S, Mustafa, S, Nadel, S, Rahman, R, Thakker, C, Bokhandi, S, Power, S, Barham, H, Pathan, N, Ridout, J, White, D, Thurston, S, Faust, S, Patel, S, McCorkell, J, Davies, P, Cratev, L, Navarra, H, Carter, S, Ramaiah, R, Patel, R, Tuffrey, C, Gribbin, A, McCready, S, Peters, M, Hardy, K, Standing, F, O'Neill, L, Abelake, E, Deep, A, Nsirim, E, Willis, L, Young, Z, Royad, C, White, S, Fortune, PM, Hudnott, P, Alvez Gonzalez, F, Barral-Arca, R, Cebey-Lopez, M, Jose Curras-Tuala, M, Garcia, N, Garcia Vicente, L, Gomez-Carballa, A, Gomez Rial, J, Grela Beiroa, A, Justicia Grande, A, Leborans Iglesias, P, Martinez Santos, AE, Martinon-Torres, N, Martinon Sanchez, JM, Mosquera Perez, B, Obando Pacheco, P, Pardo-Seco, J, Pischedda, S, Rivero Calle, I, Rodriguez-Tenreiro, C, Redondo-Collazo, L, Seren Fernandez, S, Porto Silva, MDS, Vega, A, Beatriz Reyes, S, Leon Leon, MC, Navarro Mingorance, A, Gabaldo Barrios, X, Onate Vergara, E, Concha Torre, A, Vivanco, A, Fernandez, R, Gimenez Sanchez, F, Sanchez Forte, M, Rojo, P, Ruiz Contreras, J, Palacios, A, Navarro, M, Alvarez Alvarez, C, Jose Lozano, M, Carreras, E, Brio Sanagustin, S, Neth, O, Martinez Padilla, MDC, Prieto Tato, LM, Guillen, S, Fernandez Silveira, L, Moreno, D, van Furth, AMT, 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, P, Aebi, C, Berger, C, Giannoni, E, Stocker, M, Posfay-Barbe, KM, Heininger, U, Bernhard-Stirnemann, S, Niederer-Loher, A, Kahlert, C, Hasters, P, Relly, C, Baer, W, Paulus, S, Frederick, H, Jennings, R, Johnston, J, Kenwright, R, Agbeko, R, Bojang, K, Sarr, I, Kebbeh, N, Sey, G, Saidykhan, M, Cole, F, Thomas, G, Antonio, M, Walcher, W, Geishofer, G, Klobassa, D, Martin, M, Pfurtscheller, K, Reiter, K, Roedl, S, Zobel, G, Zoehrer, B, Toepke, B, Fucik, P, Gabriel, M, Penzien, JM, Diab, G, Miething, R, Deeg, KH, Hammer, J, Varnholt, V, Schmidt, A, Bindl, L, Sillaber, U, Huemer, C, Meier, P, Simic-Schleicher, G, Markart, M, Pfau, E, Broede, H, Ausserer, B, Kalhoff, H, Arpe, V, Schweitzer-Krantz, S, Kasper, J-M, Loranth, K, Bittrich, HJ, Simma, B, Klinge, J, Fedlmaier, M, Weigand, N, Herting, E, Grube, R, Fusch, C, Gruber, A, Schimmel, U, Knaufer-Schiefer, S, Laessig, W, Hennenberger, A, von der Wense, A, Tillmann, R, Schwarick, J, Sitzmann, FC, Streif, W, Mueller, H, Kurnik, P, Groneck, P, Weiss, U, Groeblacher-Roth, H, Bensch, J, Moser, R, Schwarz, R, Lenz, K, Hofmann, T, Goepel, W, Schulz, D, Berger, T, Hauser, E, Foerster, KM, Peters, J, Nicolai, TH, Kumlien, B, Beckmann, R, Seitz, C, Hueseman, D, Schuermann, R, Ta, VH, Weikmann, E, Evert, W, Hautz, J, Seidenberg, J, Wocko, L, Luigs, P, Reiter, H-L, Quietzach, J, Koenig, M, Herrmann, J, Mitter, H, Seidler, E, Maak, B, Sperl, W, Zwiauer, K, Meissl, M, Koch, R, Cremer, M, Breuer, HA, Goerke, W, Nossal, R, Pernice, W, Brangenberg, R, Salzer, HR, Koch, H, Schaller, G, Paky, F, Strasser, F, Eitelberger, F, Sontheimer, D, Lischka, A, Kronberger, M, Dilch, A, Scheibenpflug, C, Bruckner, R, Mahler, K, Runge, K, Kunze, W, and Schermann, P

Abstract

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.

Published
2019

29. Neuroscience

Author

Tatman A., Van Mourik I., Warren A., Williams A., Whitehouse W., Eaton, D. G. Murdoch, Darowski, M., Livingston, J., Mönkhoff, M., Bänziger, O., Morales, C., Müller, A., Bucher, H-U., Fanconi, S., Németh, László, Kovács, József, Joó, Ferenc, Füzesi, Kristóf, Pintér, Sándor, Megyeri, Pál, Deli, Mária A., Ábrahám, Csongor S., de la Ibarra Rosa I., Pérez Navero J. L., Palacios Córdoba A., Ulloa Santamaría E., Velasco Jabalquinto M. J., Romanos Lezcano A., Charles L. Schleien, John W. Kuluz, Gelznan, Barry, Pinto, Alan, Simma B., Burger R., Falk M., Uehlinger J., Ghelfi D., Sacher P., Fanconi S., Sanchez J. I., Miralies M., de Gonzalez Orbe G., Ramos V., Manrrique A., Mar F., and Shann, Frank

Published
1996
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33. Circulation/Cardiology

Author

Ringe, H., Feickert, H. J., Kallfelz, H. C., Kiet, Dang Phuong, Thu, Nguyen Xuan, Meadow, William, Rudinsky, Brian, Bell, Anthony, Eicken A., Sebening W., Balling G., Bühlmeyer K., Shadid, Majidah, Steendijk, Paul, Moison, Ralph, van de Velde, Enno T., Baan, Jan, Berger, Howard M., van Bel, Frank, Gebel G. Ya, Kruglov A. G., Golostenova L. M., Dasaev A. N., Utkin V. N., Bagdatjev V. E., Ignatov N. G., Suvorov S. G., Fink C., Simma B., Fritz M., Trawöger R., Geiger R., and Hammerer I.

Published
1996
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35. Low mortality and short-term morbidity in very preterm infants in Austria 2011-2016.

Author

Kiechl‐Kohlendorfer, U, Simma, B, Urlesberger, B, Maurer‐Fellbaum, U, Wald, M, Weissensteiner, M, Ehringer‐Schetitska, D, Berger, A, Kurz, Herbert, Bernert, Günther, Frischer, Thomas, Minkov, Milen, Zwiauer, Karl, Salzer, Hans, Falger, Jutta, Jaros, Zdenek, Peter Wagentristl, Hans, Bruckne, Robert, Birnbacher, Robert, and Kaulfersch, Wilhelm

Subjects
*PREMATURE infants, *LOW birth weight, *MULTIPLE birth, *RETROLENTAL fibroplasia, *DISEASES
Abstract

Aim: The current study determined survival, short-term neonatal morbidity and predictors for death or adverse outcome of very preterm infants in Austria.Methods: This population-based cohort study included 5197 very preterm infants (53.3% boys) born between 2011 and 2016 recruited from the Austrian Preterm Outcome Registry. Main outcome measures were gestational age-related mortality and major short-term morbidities.Results: Overall, survival rate of all live-born infants included was 91.6% and ranged from 47.1% and 73.4% among those born at 23 and 24 weeks of gestation to 84.9% and 88.2% among infants born at 25 and 26 weeks to more than 90.0% among those with a gestational age of 27 weeks or more. The overall prevalence of chronic lung disease, necrotising enterocolitis requiring surgery, intraventricular haemorrhage Grades 3-4, and retinopathy of prematurity Grades 3-5 was 10.0%, 2.1%, 5.5%, and 3.6%, respectively. Low gestational age, low birth weight, missing or incomplete course of antenatal steroids, male sex, and multiple births were significant risk predictors for death or adverse short-term outcome.Conclusion: In this national cohort study, overall survival rates were high and short-term morbidity rate was low. [ABSTRACT FROM AUTHOR]

Published
2019
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38. Asthma-Associated Ormdl3 Polymorphisms Alter Transcription Factor Binding, Promoter Activity And Ormdl3 Gene Expression

Author

Schedel, M., Michel, S., Gaertner, V. D., Toncheva, A. A., Depner, M., Binia, A., Schieck, M., Rieger, M. T., Klopp, N., Bufe, A., Laub, O., Von Berg, A., Rietschel, E., Heinzmann, A., Simma, B., Vogelberg, C., Genuneit, J., Illig, T., Kabesch, M., Schedel, M., Michel, S., Gaertner, V. D., Toncheva, A. A., Depner, M., Binia, A., Schieck, M., Rieger, M. T., Klopp, N., Bufe, A., Laub, O., Von Berg, A., Rietschel, E., Heinzmann, A., Simma, B., Vogelberg, C., Genuneit, J., Illig, T., and Kabesch, M.

Published
2015

40. Childhood asthma is associated with mutations and gene expression differences ofORMDLgenes that can interact

Author

Toncheva, A. A., primary, Potaczek, D. P., additional, Schedel, M., additional, Gersting, S. W., additional, Michel, S., additional, Krajnov, N., additional, Gaertner, V. D., additional, Klingbeil, J. M., additional, Illig, T., additional, Franke, A., additional, Winkler, C., additional, Hohlfeld, J. M., additional, Vogelberg, C., additional, von Berg, A., additional, Bufe, A., additional, Heinzmann, A., additional, Laub, O., additional, Rietschel, E., additional, Simma, B., additional, Genuneit, J., additional, Muntau, A. C., additional, and Kabesch, M., additional

Published
2015
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42. The Role Of Cyp11a1 Polymorphisms In Asthma Susceptibility

Author

Schedel, M., Michel, S., Franke, A., Von Berg, A., Bufe, A., Rietschel, E., Heinzmann, A., Laub, O., Simma, B., Frischer, T., Genuneit, J., Kabesch, M., Gelfand, E., Schedel, M., Michel, S., Franke, A., Von Berg, A., Bufe, A., Rietschel, E., Heinzmann, A., Laub, O., Simma, B., Frischer, T., Genuneit, J., Kabesch, M., and Gelfand, E.

Published
2014

43. Tolosa Hunt Syndrome

Author

Schober, H., primary, Lütschg, J., additional, Doringer, W., additional, Staber, H., additional, and Simma, B., additional

Published
2014
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47. A role ofFCER1AandFCER2polymorphisms in IgE regulation

Author

Sharma, V., primary, Michel, S., additional, Gaertner, V., additional, Franke, A., additional, Vogelberg, C., additional, von Berg, A., additional, Bufe, A., additional, Heinzmann, A., additional, Laub, O., additional, Rietschel, E., additional, Simma, B., additional, Frischer, T., additional, Genuneit, J., additional, Potaczek, D. P., additional, and Kabesch, M., additional

Published
2013
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