Search

Your search keyword '"Vierzig, A."' showing total 277 results
Start Over Author "Vierzig, A."
277 results on '"Vierzig, A."'

1. Host gene expression signatures to identify infection type and organ dysfunction in children evaluated for sepsis: a multicentre cohort study

Author

Levin, Michael, Coin, Lachlan, Gormley, Stuart, Hamilton, Shea, Hoggart, Clive, Kaforou, Myrsini, Sancho-Shimizu, Vanessa, Wright, Victoria, Abdulla, Amina, Agapow, Paul, Bartlett, Maeve, Eleftherohorinou, Hariklia, Galassini, Rachel, Inwald, David, Mashbat, Meg, Menikou, Stephanie, Mustafa, Sobia, Nadel, Simon, Rahman, Rahmeen, Shailes, Hannah, Thakker, Clare, Bokhandi, S., Power, Sue, Barham, Heather, Pathan, N., Ridout, Jenna, White, Deborah, Thurston, Sarah, Faust, S., Patel, S., McCorkell, Jenni, Davies, P., Crate, 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, Pollard, Andrew, Willis, Louise, Young, Zoe, Royad, C., White, Sonia, Fortune, Peter-Marc, Hudnott, Phil, Martinón-Torres, Federico, Salas, Antonio, Álvez González, Fernando, Barral-Arca, Ruth, Cebey-López, Miriam, Curras-Tuala, María José, García, Natalia, García Vicente, Luisa, Gómez-Carballa, Alberto, Gómez Rial, Jose, Grela Beiroa, Andrea, Justicia Grande, Antonio, Leboráns Iglesias, Pilar, Martínez Santos, Alba Elena, Martinón-Torres, Nazareth, Martinón Sánchez, José María, Morillo Gutiérrez, Beatriz, Mosquera Pérez, Belén, Obando Pacheco, Pablo, Pardo-Seco, Jacobo, Pischedda, Sara, Rivero-Calle, Irene, Rodríguez-Tenreiro, Carmen, Redondo-Collazo, Lorenzo, Salas Ellacuriaga, Antonio, Fernández, Sonia Serén, del Sol Porto Silva, María, Vega, Ana, Vilanova Trillo, Lucía, Reyes, Susana Beatriz, Cruz León León, María, Navarro Mingorance, Álvaro, Gabaldó Barrio, Xavier, Oñate Vergara, Eider, Concha Torre, Andrés, Vivanco, Ana, Fernández, Reyes, Giménez Sánchez, Francisco, Sánchez Forte, Miguel, Rojo, Pablo, Contreras, J. Ruiz, Palacios, Alba, Epalza Ibarrondo, Cristina, Fernández Cooke, Elizabeth, Navarro, Marisa, Álvarez Álvarez, Cristina, José Lozano, María, Carreras, Eduardo, Brió Sanagustín, Sonia, Neth, Olaf, Martínez Padilla, Mª del Carmen, Prieto Tato, Luis Manuel, Guillén, Sara, Fernández Silveira, Laura, Moreno, David, de Groot, R., Tutu van Furth, A.M., van der Flier, M., Boeddha, N.P., Driessen, G.J.A., Emonts, M., Hazelzet, J.A., Kuijpers, T.W., Pajkrt, D., Sanders, E.A.M., van de Beek, D., van der Ende, A., Philipsen, H.L.A., Adeel, A.O.A., Breukels, M.A., Brinkman, D.M.C., de Korte, C.C.M.M., de Vries, E., de Waal, W.J., Dekkers, R., Dings-Lammertink, A., Doedens, R.A., Donker, A.E., Dousma, M., Faber, T.E., Gerrits, G.P.J.M., Gerver, J.A.M., Heidema, J., Homan-van der Veen, J., Jacobs, M.A.M., Jansen, N.J.G., Kawczynski, P., Klucovska, K., Kneyber, M.C.J., Koopman-Keemink, Y., Langenhorst, V.J., Leusink, J., Loza, B.F., Merth, I.T., Miedema, C.J., Neeleman, C., Noordzij, J.G., Obihara, C.C., van Overbeek- van Gils, A.L.T., Poortman, G.H., Potgieter, S.T., Potjewijd, J., Rosias, P.P.R., Sprong, T., ten Tussher, G.W., Thio, B.J., Tramper-Stranders, G.A., van Deuren, M., van der Meer, H., van Kuppevelt, A.J.M., van Wermeskerken, A.M., Verwijs, W.A., Wolfs, T.F.W., Schlapbach, Luregn J., Agyeman, Philipp, Aebi, 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, Berger, Christoph, Carrol, Enitan D., Paulus, Stéphane, Frederick, Hannah, Jennings, Rebecca, Johnston, Joanne, Kenwright, Rhian, Fink, Colin G, Pinnock, Elli, Emonts, Marieke, Agbeko, Rachel, Anderson, Suzanne, Secka, Fatou, Bojang, Kalifa, Sarr, Isatou, Kebbeh, Ngange, Sey, Gibbi, Saidykhan, Momodou, Cole, Fatoumata, Thomas, Gilleh, Antonio, Martin, Zenz, Werner, Kohlfürst, Daniela S., Binder, Alexander, Schweintzger, Nina A., Sagmeister, Manfred, Baumgart, Hinrich, Baumgartner, Markus, Behrends, Uta, Biebl, Ariane, Birnbacher, Robert, Blanke, Jan-Gerd, Boelke, Carsten, Breuling, Kai, Brunner, Jürgen, Buller, Maria, Dahlem, Peter, Dietrich, Beate, Eber, Ernst, Elias, Johannes, Emhofer, Josef, Etschmaier, Rosa, Farr, Sebastian, Girtler, Ylenia, Grigorow, Irina, Heimann, Konrad, Ihm, Ulrike, Jaros, Zdenek, Kalhoff, Hermann, Kaulfersch, Wilhelm, Kemen, Christoph, Klocker, Nina, Köster, Bernhard, Kohlmaier, Benno, Komini, Eleni, Kramer, Lydia, Neubert, Antje, Ortner, Daniel, Pescollderungg, Lydia, Pfurtscheller, Klaus, Reiter, Karl, Ristic, Goran, Rödl, Siegfried, Sellner, Andrea, Sonnleitner, Astrid, Sperl, Matthias, Stelzl, Wolfgang, Till, Holger, Trobisch, Andreas, Vierzig, Anne, Vogel, Ulrich, Weingarten, Christina, Welke, Stefanie, Wimmer, Andreas, Wintergerst, Uwe, Wüller, Daniel, Zaunschirm, Andrew, Ziuraite, Ieva, Žukovskaja, Veslava, Hibberd, Martin L., Davila, Sonia, Delany, Isabel, Schlapbach, Luregn J, Raman, Sainath, Sharp, Nathalie, Phillips, Natalie, Irwin, Adam, Balch, Ross, Harley, Amanda, Johnson, Kerry, Sever, Zoe, George, Shane, Grimwood, Keith, Snelling, Peter J, Chavan, Arjun, Kitcatt, Eleanor, Lawton, Luke, Hempenstall, Allison, Pilot, Pelista, Gibbons, Kristen S, Le Marsney, Renate, Blumenthal, Antje, Ganesamoorthy, Devika, Pardo, Carolyn, Kling, Jessica, McPherson, Stephen, MacDonald, Anna D, Bialasiewicz, Seweryn, Pham, Trang, Wilson, Clare, Sharp, Natalie, Kling, Jessica C, McPherson, Stephen J, Herberg, Jethro A, and Coin, Lachlan J M

Published
2024
Full Text
View/download PDF

2. Detectable A Disintegrin and Metalloproteinase With Thrombospondin Motifs-1 in Serum Is Associated With Adverse Outcome in Pediatric Sepsis

Author

Navin P. Boeddha, MD, PhD, Gertjan J. Driessen, MD, PhD, Nienke N. Hagedoorn, MD, Daniela S. Kohlfuerst, MD, Clive J. Hoggart, PhD, Angelique L. van Rijswijk, MSc, Ebru Ekinci, MD, Debby Priem, BSc, Luregn J. Schlapbach, MD, PhD, Jethro A. Herberg, MD, PhD, Ronald de Groot, MD, PhD, Suzanne T. Anderson, MD, PhD, Colin G. Fink, PhD, Enitan D. Carrol, MD, PhD, Michiel van der Flier, MD, PhD, Federico Martinón-Torres, MD, PhD, Michael Levin, MD, PhD, Frank W. Leebeek, MD, PhD, Werner Zenz, MD, PhD, Moniek P. M. de Maat, PhD, Jan A. Hazelzet, MD, PhD, Marieke Emonts, MD, PhD, Willem A. Dik, PhD, on behalf of the EUCLIDS consortium, Michael Levin, Lachlan Coin, Stuart Gormley, Shea Hamilton, Jethro Herberg, Bernardo Hourmat, Clive Hoggart, Myrsini Kaforou, Vanessa Sancho-Shimizu, Victoria Wright, Amina Abdulla, Paul Agapow, Maeve Bartlett, Evangelos Bellos, Hariklia Eleftherohorinou, Rachel Galassini, David Inwald, Meg Mashbat, Stefanie Menikou, Sobia Mustafa, Simon Nadel, Rahmeen Rahman, Clare Thakker, S Bokhandi, Sue Power, Heather Barham, N Pathan, Jenna Ridout, Deborah White, Sarah Thurston, S Faust, S Patel, Jenni McCorkell, P Davies, Lindsey Crate, Helen Navarra, Stephanie Carter, R Ramaiah, Rekha Patel, Catherine Tuffrey, Andrew Gribbin, Sharon McCready, Mark Peters, Katie Hardy, Fran Standing, Lauren O’Neill, Eugenia Abelake, Akash Deep, Eniola Nsirim, A Pollard, Louise Willis, Zoe Young, C Royad, Sonia White, PM Fortune, Phil Hudnott, Federico Martinón-Torres, Antonio Salas, Fernando Álvez González, Ruth Barral-Arca, Miriam Cebey-López, María José CurrasTuala, Natalia García, Luisa García Vicente, Alberto Gómez-Carballa, Jose Gómez Rial, Andrea Grela Beiroa, Antonio Justicia Grande, Pilar Leboráns Iglesias, Alba Elena Martínez Santos, Nazareth Martinón-Torres, José María Martinón Sánchez, Beatriz Morillo Gutiérrez, Belén Mosquera Pérez, Pablo Obando Pacheco, Jacobo Pardo-Seco, Sara Pischedda, Irene Rivero Calle, Carmen Rodríguez-Tenreiro, Lorenzo Redondo-Collazo, Antonio Salas Ellacuriaga, Sonia Serén Fernández, María del Sol Porto Silva, Ana Vega, Lucía Vilanova Trillo, Susana Beatriz Reyes, María Cruz León León, Álvaro Navarro Mingorance, Xavier Gabaldó Barrios, Eider Oñate Vergara, Andrés Concha Torre, Ana Vivanco, Reyes Fernández, Francisco Giménez Sánchez, Miguel Sánchez Forte, Pablo Rojo, J.Ruiz Contreras, Alba Palacios, Cristina Epalza Ibarrondo, Elizabeth Fernández Cooke, Marisa Navarro, Cristina Álvarez Álvarez, María José Lozano, Eduardo Carreras, Sonia Brió Sanagustín, Olaf Neth, Mª del Carmen Martínez Padilla, Luis Manuel Prieto Tato, Sara Guillén, Laura Fernández Silveira, David Moreno, R. de Groot, A.M. Tutu van Furth, M. van der Flier, N.P. Boeddha, G.J.A. Driessen, M. Emonts, J.A. Hazelzet, T.W. Kuijpers, D. Pajkrt, E.A.M. Sanders, D. van de Beek, A. van der Ende, H.L.A. Philipsen, A.O.A. Adeel, M.A. Breukels, D.M.C. Brinkman, C.C.M.M. de Korte, E. de Vries, W.J. de Waal, R. Dekkers, A. Dings-Lammertink, R.A. Doedens, A.E. Donker, M. Dousma, T.E. Faber, G.P.J.M. Gerrits, J.A.M. Gerver, J. Heidema, J. Homan-van der Veen, M.A.M. Jacobs, N.J.G. Jansen, P. Kawczynski, K. Klucovska, M.C.J. Kneyber, Y. Koopman-Keemink, V.J. Langenhorst, J. Leusink, B.F. Loza, I.T. Merth, C.J. Miedema, C. Neeleman, J.G. Noordzij, C.C. Obihara, A.L.T. van Overbeek – van Gils, G.H. Poortman, S.T. Potgieter, J. Potjewijd, P.P.R. Rosias, T. Sprong, G.W. ten Tussher, B.J. Thio, G.A. Tramper-Strander, M. van Deuren, H. van der Meer, A.J.M. van Kuppevelt, A.M. van Wermeskerken, W.A. Verwijs, T.F.W. Wolfs, Luregn J Schlapbach, Philipp Agyeman, Christoph Aebi, Eric Giannoni, Martin Stocker, Klara M Posfay-Barbe, Ulrich Heininger, Sara Bernhard-Stirnemann, Anita Niederer-Loher, Christian Kahlert, Paul Hasters, Christa Relly, Walter Baer, Christoph Berger, Enitan Carrol, Stéphane Paulus, Hannah Frederick, Rebecca Jennings, Joanne Johnston, Rhian Kenwright, Colin G Fink, Elli Pinnock, Marieke Emonts, Rachel Agbeko, Suzanne Anderson, Fatou Secka, Kalifa Bojang, Isatou Sarr, Ngane Kebbeh, Gibbi Sey, Momodou Saidykhan, Fatoumatta Cole, Gilleh Thomas, Martin Antonio, Werner Zenz, Daniela S. Klobassa, Alexander Binder, Nina A. Schweintzger, Manfred Sagmeister, Hinrich Baumgart, Markus Baumgartner, Uta Behrends, Ariane Biebl, Robert Birnbacher, Jan-Gerd Blanke, Carsten Boelke, Kai Breuling, Jürgen Brunner, Maria Buller, Peter Dahlem, Beate Dietrich, Ernst Eber, Johannes Elias, Josef Emhofer, Rosa Etschmaier, Sebastian Farr, Ylenia Girtler, Irina Grigorow, Konrad Heimann, Ulrike Ihm, Zdenek Jaros, Hermann Kalhoff, Wilhelm Kaulfersch, Christoph Kemen, Nina Klocker, Bernhard Köster, Benno Kohlmaier, Eleni Komini, Lydia Kramer, Antje Neubert, Daniel Ortner, Lydia Pescollderungg, Klaus Pfurtscheller, Karl Reiter, Goran Ristic, Siegfried Rödl, Andrea Sellner, Astrid Sonnleitner, Matthias Sperl, Wolfgang Stelzl, Holger Till, Andreas Trobisch, Anne Vierzig, Ulrich Vogel, Christina Weingarten, Stefanie Welke, Andreas Wimmer, Uwe Wintergerst, Daniel Wüller, Andrew Zaunschirm, Ieva Ziuraite, and Veslava Žukovskaja

Subjects
Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9
Abstract

IMPORTANCE:. A Disintegrin and Metalloproteinase with Thrombospondin Motifs-1 is hypothesized to play a role in the pathogenesis of invasive infection, but studies in sepsis are lacking. OBJECTIVES:. To study A Disintegrin and Metalloproteinase with Thrombospondin Motifs-1 protein level in pediatric sepsis and to study the association with outcome. DESIGN:. Data from two prospective cohort studies. SETTING AND PARTICIPANTS:. Cohort 1 is from a single-center study involving children admitted to PICU with meningococcal sepsis (samples obtained at three time points). Cohort 2 includes patients from a multicenter study involving children admitted to the hospital with invasive bacterial infections of differing etiologies (samples obtained within 48 hr after hospital admission). MAIN OUTCOMES AND MEASURES:. Primary outcome measure was mortality. Secondary outcome measures were PICU-free days at day 28 and hospital length of stay. RESULTS:. In cohort 1 (n = 59), nonsurvivors more frequently had A Disintegrin and Metalloproteinase with Thrombospondin Motifs-1 levels above the detection limit than survivors at admission to PICU (8/11 [73%] and 6/23 [26%], respectively; p = 0.02) and at t = 24 hours (2/3 [67%] and 3/37 [8%], respectively; p = 0.04). In cohort 2 (n = 240), A Disintegrin and Metalloproteinase with Thrombospondin Motifs-1 levels in patients within 48 hours after hospital admission were more frequently above the detection limit than in healthy controls (110/240 [46%] and 14/64 [22%], respectively; p = 0.001). Nonsurvivors more often had detectable A Disintegrin and Metalloproteinase with Thrombospondin Motifs-1 levels than survivors (16/21 [76%] and 94/219 [43%], respectively; p = 0.003), which was mostly attributable to patients with Neisseria meningitidis. CONCLUSIONS AND RELEVANCE:. In children with bacterial infection, detection of A Disintegrin and Metalloproteinase with Thrombospondin Motifs-1 within 48 hours after hospital admission is associated with death, particularly in meningococcal sepsis. Future studies should confirm the prognostic value of A Disintegrin and Metalloproteinase with Thrombospondin Motifs-1 and should study pathophysiologic mechanisms.

Published
2021
Full Text
View/download PDF

3. Host gene expression signatures to identify infection type and organ dysfunction in children evaluated for sepsis: a multicentre cohort study

Author

Schlapbach, Luregn J, Ganesamoorthy, Devika, Wilson, Clare, Raman, Sainath, George, Shane, Snelling, Peter J, Phillips, Natalie, Irwin, Adam, Sharp, Natalie, Le Marsney, Renate, Chavan, Arjun, Hempenstall, Allison, Bialasiewicz, Seweryn, MacDonald, Anna D, Grimwood, Keith, Kling, Jessica C, McPherson, Stephen J, Blumenthal, Antje, Kaforou, Myrsini, Levin, Michael, Herberg, Jethro A, Gibbons, Kristen S, Coin, Lachlan J M, Levin, Michael, Coin, Lachlan, Gormley, Stuart, Hamilton, Shea, Hoggart, Clive, Kaforou, Myrsini, Sancho-Shimizu, Vanessa, Wright, Victoria, Abdulla, Amina, Agapow, Paul, Bartlett, Maeve, Eleftherohorinou, Hariklia, Galassini, Rachel, Inwald, David, Mashbat, Meg, Menikou, Stephanie, Mustafa, Sobia, Nadel, Simon, Rahman, Rahmeen, Shailes, Hannah, Thakker, Clare, Bokhandi, S., Power, Sue, Barham, Heather, Pathan, N., Ridout, Jenna, White, Deborah, Thurston, Sarah, Faust, S., Patel, S., McCorkell, Jenni, Davies, P., Crate, 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, Pollard, Andrew, Willis, Louise, Young, Zoe, Royad, C., White, Sonia, Fortune, Peter-Marc, Hudnott, Phil, Martinón-Torres, Federico, Salas, Antonio, Álvez González, Fernando, Barral-Arca, Ruth, Cebey-López, Miriam, Curras-Tuala, María José, García, Natalia, García Vicente, Luisa, Gómez-Carballa, Alberto, Gómez Rial, Jose, Grela Beiroa, Andrea, Justicia Grande, Antonio, Leboráns Iglesias, Pilar, Martínez Santos, Alba Elena, Martinón-Torres, Nazareth, Martinón Sánchez, José María, Morillo Gutiérrez, Beatriz, Mosquera Pérez, Belén, Obando Pacheco, Pablo, Pardo-Seco, Jacobo, Pischedda, Sara, Rivero-Calle, Irene, Rodríguez-Tenreiro, Carmen, Redondo-Collazo, Lorenzo, Salas Ellacuriaga, Antonio, Fernández, Sonia Serén, del Sol Porto Silva, María, Vega, Ana, Vilanova Trillo, Lucía, Reyes, Susana Beatriz, Cruz León León, María, Navarro Mingorance, Álvaro, Gabaldó Barrio, Xavier, Oñate Vergara, Eider, Concha Torre, Andrés, Vivanco, Ana, Fernández, Reyes, Giménez Sánchez, Francisco, Sánchez Forte, Miguel, Rojo, Pablo, Contreras, J. Ruiz, Palacios, Alba, Epalza Ibarrondo, Cristina, Fernández Cooke, Elizabeth, Navarro, Marisa, Álvarez Álvarez, Cristina, José Lozano, María, Carreras, Eduardo, Brió Sanagustín, Sonia, Neth, Olaf, Martínez Padilla, Mª del Carmen, Prieto Tato, Luis Manuel, Guillén, Sara, Fernández Silveira, Laura, Moreno, David, de Groot, R., Tutu van Furth, A.M., van der Flier, M., Boeddha, N.P., Driessen, G.J.A., Emonts, M., Hazelzet, J.A., Kuijpers, T.W., Pajkrt, D., Sanders, E.A.M., van de Beek, D., van der Ende, A., Philipsen, H.L.A., Adeel, A.O.A., Breukels, M.A., Brinkman, D.M.C., de Korte, C.C.M.M., de Vries, E., de Waal, W.J., Dekkers, R., Dings-Lammertink, A., Doedens, R.A., Donker, A.E., Dousma, M., Faber, T.E., Gerrits, G.P.J.M., Gerver, J.A.M., Heidema, J., Homan-van der Veen, J., Jacobs, M.A.M., Jansen, N.J.G., Kawczynski, P., Klucovska, K., Kneyber, M.C.J., Koopman-Keemink, Y., Langenhorst, V.J., Leusink, J., Loza, B.F., Merth, I.T., Miedema, C.J., Neeleman, C., Noordzij, J.G., Obihara, C.C., van Overbeek- van Gils, A.L.T., Poortman, G.H., Potgieter, S.T., Potjewijd, J., Rosias, P.P.R., Sprong, T., ten Tussher, G.W., Thio, B.J., Tramper-Stranders, G.A., van Deuren, M., van der Meer, H., van Kuppevelt, A.J.M., van Wermeskerken, A.M., Verwijs, W.A., Wolfs, T.F.W., Schlapbach, Luregn J., Agyeman, Philipp, Aebi, 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, Berger, Christoph, Carrol, Enitan D., Paulus, Stéphane, Frederick, Hannah, Jennings, Rebecca, Johnston, Joanne, Kenwright, Rhian, Fink, Colin G, Pinnock, Elli, Emonts, Marieke, Agbeko, Rachel, Anderson, Suzanne, Secka, Fatou, Bojang, Kalifa, Sarr, Isatou, Kebbeh, Ngange, Sey, Gibbi, Saidykhan, Momodou, Cole, Fatoumata, Thomas, Gilleh, Antonio, Martin, Zenz, Werner, Kohlfürst, Daniela S., Binder, Alexander, Schweintzger, Nina A., Sagmeister, Manfred, Baumgart, Hinrich, Baumgartner, Markus, Behrends, Uta, Biebl, Ariane, Birnbacher, Robert, Blanke, Jan-Gerd, Boelke, Carsten, Breuling, Kai, Brunner, Jürgen, Buller, Maria, Dahlem, Peter, Dietrich, Beate, Eber, Ernst, Elias, Johannes, Emhofer, Josef, Etschmaier, Rosa, Farr, Sebastian, Girtler, Ylenia, Grigorow, Irina, Heimann, Konrad, Ihm, Ulrike, Jaros, Zdenek, Kalhoff, Hermann, Kaulfersch, Wilhelm, Kemen, Christoph, Klocker, Nina, Köster, Bernhard, Kohlmaier, Benno, Komini, Eleni, Kramer, Lydia, Neubert, Antje, Ortner, Daniel, Pescollderungg, Lydia, Pfurtscheller, Klaus, Reiter, Karl, Ristic, Goran, Rödl, Siegfried, Sellner, Andrea, Sonnleitner, Astrid, Sperl, Matthias, Stelzl, Wolfgang, Till, Holger, Trobisch, Andreas, Vierzig, Anne, Vogel, Ulrich, Weingarten, Christina, Welke, Stefanie, Wimmer, Andreas, Wintergerst, Uwe, Wüller, Daniel, Zaunschirm, Andrew, Ziuraite, Ieva, Žukovskaja, Veslava, Hibberd, Martin L., Davila, Sonia, Delany, Isabel, Schlapbach, Luregn J, Raman, Sainath, Sharp, Nathalie, Phillips, Natalie, Irwin, Adam, Balch, Ross, Harley, Amanda, Johnson, Kerry, Sever, Zoe, George, Shane, Grimwood, Keith, Snelling, Peter J, Chavan, Arjun, Kitcatt, Eleanor, Lawton, Luke, Hempenstall, Allison, Pilot, Pelista, Gibbons, Kristen S, Le Marsney, Renate, Blumenthal, Antje, Ganesamoorthy, Devika, Pardo, Carolyn, Kling, Jessica, McPherson, Stephen, MacDonald, Anna D, Bialasiewicz, Seweryn, Pham, Trang, and Coin, Lachlan

Abstract

Sepsis is defined as dysregulated host response to infection that leads to life-threatening organ dysfunction. Biomarkers characterising the dysregulated host response in sepsis are lacking. We aimed to develop host gene expression signatures to predict organ dysfunction in children with bacterial or viral infection.

Published
2024
Full Text
View/download PDF

5. Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study

Author

Schwahn, Bernd C, Van Spronsen, Francjan J, Belaidi, Abdel A, Bowhay, Stephen, Christodoulou, John, Derks, Terry G, Hennermann, Julia B, Jameson, Elisabeth, König, Kai, McGregor, Tracy L, Font-Montgomery, Esperanza, Santamaria-Araujo, José A, Santra, Saikat, Vaidya, Mamta, Vierzig, Anne, Wassmer, Evangeline, Weis, Ilona, Wong, Flora Y, Veldman, Alex, and Schwarz, Günter

Published
2015
Full Text
View/download PDF

6. Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3

Author

Thomas Wittmann, Sabrina Frixel, Stefanie Höppner, Ulrike Schindlbeck, Andrea Schams, Matthias Kappler, Jan Hegermann, Christoph Wrede, Gerhard Liebisch, Anne Vierzig, Angela Zacharasiewicz, Matthias Volkmar Kopp, Christian F Poets, Winfried Baden, Dominik Hartl, Anton H van Kaam, Peter Lohse, Charalampos Aslanidis, Ralf Zarbock, and Matthias Griese

Subjects
Therapeutics. Pharmacology, RM1-950, Biochemistry, QD415-436
Abstract

Abstract The ABCA3 gene encodes a lipid transporter in type II pneumocytes critical for survival and normal respiratory function. The frequent ABCA3 variant R288K increases the risk for neonatal respiratory distress syndrome among term and late preterm neonates, but its role in children’s interstitial lung disease has not been studied in detail. In a retrospective cohort study of 228 children with interstitial lung disease related to the alveolar surfactant system, the frequency of R288K was assessed and the phenotype of patients carrying a single R288K variant further characterized by clinical course, lung histology, computed tomography and bronchoalveolar lavage phosphatidylcholine PC 32:0. Cell lines stably transfected with ABCA3-R288K were analyzed for intracellular transcription, processing and targeting of the protein. ABCA3 function was assessed by detoxification assay of doxorubicin, and the induction and volume of lamellar bodies. We found nine children with interstitial lung disease carrying a heterozygous R288K variant, a frequency significantly higher than in the general Caucasian population. All identified patients had neonatal respiratory insufficiency, recovered and developed chronic interstitial lung disease with intermittent exacerbations during early childhood. In vitro analysis showed normal transcription, processing, and targeting of ABCA3-R288K, but impaired detoxification function and smaller lamellar bodies. We propose that the R288K variant can underlie interstitial lung disease in childhood due to reduced function of ABCA3, demonstrated by decelerated detoxification of doxorubicin, reduced PC 32:0 content and decreased lamellar body volume.

Published
2016
Full Text
View/download PDF

7. Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities

Author

Hackl, Agnes, Mehler, Katrin, Gottschalk, Ingo, Vierzig, Anne, Eydam, Marcus, Hauke, Jan, and Beck, Bodo B.

Subjects
Health
Abstract

Background Differential diagnosis of prenatally detected hyperechogenic and enlarged kidneys can be challenging as there is a broad phenotypic overlap between several rare genetic and non-genetic disorders. Metabolic diseases are among the rarest underlying disorders, but they demand particular attention as their prognosis and postnatal management differ from those of other diseases. Methods We report two cases of cystic, hyperechogenic and enlarged kidneys detected on prenatal ultrasound images, resulting in the suspected diagnosis of autosomal recessive polycystic kidney disease (ARPKD). Postnatal clinical course and work-up, however, revealed early, neonatal forms of disorders of fatty acid oxidation (DFAO) in both cases, namely, glutaric acidemia type II, based on identification of the novel, homozygous splice-site mutation c.1117-2A > G in the ETFDH gene, in one case and carnitine palmitoyltransferase II deficiency in the other case. Results Review of pre- and postnatal sonographic findings resulted in the identification of some important differences that might help to differentiate DFAO from ARPKD. In DFAO, kidneys are enlarged to a milder degree than in ARPKD, and the cysts are located ubiquitously, including also in the cortex and the subcapsular area. Interestingly, recent studies have pointed to a switch in metabolic homeostasis, referred to as the Warburg effect (aerobic glycolysis), as one of the underlying mechanisms of cell proliferation and cyst formation in cystic kidney disease. DFAO are characterized by the inhibition of oxidative phosphorylation, resulting in aerobic glycolysis, and thus they do resemble the Warburg effect. We therefore speculate that this inhibition might be one of the pathomechanisms of renal hyperproliferation and cyst formation in DFAO analogous to the reported findings in ARPKD. Conclusions Neonatal forms of DFAO can be differentially diagnosed in neonates with cystic or hyperechogenic kidneys and necessitate immediate biochemical work-up to provide early metabolic management., Author(s): Agnes Hackl [sup.1] , Katrin Mehler [sup.2] , Ingo Gottschalk [sup.3] , Anne Vierzig [sup.2] , Marcus Eydam [sup.4] , Jan Hauke [sup.5] , Bodo B. Beck [sup.6] , [...]

Published
2017
Full Text
View/download PDF

10. Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3

Author

Wittmann, Thomas, Frixel, Sabrina, Höppner, Stefanie, Schindlbeck, Ulrike, Schams, Andrea, Kappler, Matthias, Hegermann, Jan, Wrede, Christoph, Liebisch, Gerhard, Vierzig, Anne, Zacharasiewicz, Angela, Kopp, Matthias Volkmar, Poets, Christian F, Baden, Winfried, Hartl, Dominik, van Kaam, Anton H, Lohse, Peter, Aslanidis, Charalampos, Zarbock, Ralf, and Griese, Matthias

Published
2016
Full Text
View/download PDF

12. Anthropomorphic Stelae of the 4th and 3rd Millennia Between the Caucasus and the Atlantic Ocean

Author

Angelika Vierzig

Subjects
0301 basic medicine, 03 medical and health sciences, 030104 developmental biology, History, 060102 archaeology, Western europe, 0601 history and archaeology, 06 humanities and the arts, General Medicine, Copper metallurgy, Chalcolithic, Ancient history
Abstract

Anthropomorphic stone stelae of monumental dimensions dated to the 4th and 3rd millennia BC have been found in southern Europe between the Atlantic Ocean and the Caucasus. They are understood as symbolic human representations the size of which arises out of a new self-awareness of humankind in the world. Anthropomorphic stelae are one of many innovations appearing during this epoch. Other innovations are copper metallurgy and tools, in particular weapons and jewellery, as well as the wheel, the wagon, and the plough drawn by animals. These innovations are depicted on stelae; what is more, the stele itself is an innovation in which the other changes are bundled. Comparable stylistic features of stelae in different areas demonstrate far-reaching contacts. Often the origin of anthropomorphic stelae is seen in the Russian steppes, with the archaeogenetically proven migration from east to west being the cause for the building of stelae in central and western Europe. However, the oldest known stelae apparently originate in western Europe. The impulses behind the dissemination of innovations must have emanated from continuous exchange relations, but the migration in the 3rd millenniumbcedid not bring with it the idea itself of anthropomorphic stelae. Nowadays the question about the function of stelae is usually answered with the representation of ancestors. When anthropomorphic stones keep the memory of common roots alive, they serve the building of identity.

Published
2020
Full Text
View/download PDF

15. A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation

Author

Lutz T. Weber, Jörg Dötsch, Daniel Bamborschke, Anne Vierzig, Sebahattin Cirak, Friederike Koerber, Kerstin Becker, and Matthias Pergande

Subjects
Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Nephrotic Syndrome, Hydrops Fetalis, medicine.disease_cause, Frameshift mutation, 03 medical and health sciences, Fatal Outcome, Developmental Neuroscience, medicine, Adrenal insufficiency, Humans, Frameshift Mutation, Cerebellar hypoplasia, Congenital nephrotic syndrome, Exome sequencing, Aldehyde-Lyases, Mutation, business.industry, Homozygote, Infant, General Medicine, medicine.disease, Hyperintensity, Malformations of Cortical Development, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Differential diagnosis, business
Abstract

Introduction Recently recessive mutations in sphingosine-1-phosphate lyase (SGPL1) have been published as a cause of syndromic congenital nephrotic syndrome with adrenal insufficiency. We have identified a case with fetal hydrops and brain malformations due to a mutation in SGPL1. Case report We report a patient presenting with severe fetal hydrops, congenital nephrotic syndrome and adrenal calcifications. MRI imaging showed generalized cortical atrophy with simplified gyral pattern and hypoplastic temporal lobes as well as cerebellar hypoplasia and hyperintensity in the pons. The boy deceased at 6 weeks of age. Via whole exome sequencing, we identified a novel homozygous frameshift mutation c.1233delC (p.Phe411Leufs∗56) in SGPL1. Conclusion In our patient, we describe a novel mutation in sphingosine-1-phosphate lyase (SGPL1) leading to severe brain malformation. Neurodevelopmental phenotypes have been reported earlier, but not described in detail. To this end, we present a review on all published SGPL1-mutations and genotype-phenotype correlations focusing on neurodevelopmental outcomes. We hypothesized on the severe neurological phenotypes, which might be due to disruption of neuronal autophagy. Mutations in SGPL1 shall be considered in the differential diagnosis of fetal hydrops as well as congenital brain malformations and neuropathies.

Published
2018
Full Text
View/download PDF

20. Adipöser Junge mit Herzrhythmusstörung

Author

M. Müller-Albrecht, K. Ebner, M. Emmel, L. Stahlhut, F. Eifinger, A. Vierzig, Jörg Dötsch, and R. Heller

Subjects
Gynecology, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, business.industry, 030225 pediatrics, Pediatrics, Perinatology and Child Health, medicine, 030209 endocrinology & metabolism, Surgery, business
Abstract

Ein dreijahriger Junge mit bekannter Adipositas permagna wird nach einem Reanimationsereignis auf die padiatrische Intensivstation verlegt. Es imponieren wiederholt Phasen einer Hypocalcamie getriggerten reversiblen QTc-Zeit-Verlangerung mit resultierenden Torsade-de-pointes-artigen ventrikularen Tachykardien. In der weiteren Abklarung ergibt die Konstellation aus Hypocalcamie, Hyperphosphatamie, Parathormonerhohung, symmetrischen kalzifikationsverdachtigen Hyperdensitaten bifrontal und im Bereich der Stammganglien sowie die vorbekannte Adipositas permagna die Verdachtsdiagnose eines Pseudohypoparathyreoidismus Typ 1a (Albright-Osteodystrophie), die molekulargenetisch bestatigt werden kann. Die Therapie der Endorganresistenzen verschiedener Hormone erfolgt symptomatisch.

Published
2017
Full Text
View/download PDF

21. Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease—different clinical entities and comparable perinatal renal abnormalities

Author

Marcus Eydam, Max C. Liebau, Bodo B. Beck, Agnes Hackl, Sandra Habbig, Jan Hauke, Lutz T. Weber, Ingo Gottschalk, Katrin Mehler, Regina Ensenauer, and Anne Vierzig

Subjects
Adult, Iron-Sulfur Proteins, 0301 basic medicine, Nephrology, Pathology, medicine.medical_specialty, Electron-Transferring Flavoproteins, 030232 urology & nephrology, Physiology, Kidney, Lipid Metabolism, Inborn Errors, Ultrasonography, Prenatal, Glutarates, Young Adult, 03 medical and health sciences, Fatal Outcome, 0302 clinical medicine, Pregnancy, Internal medicine, Humans, Medicine, Beta oxidation, Polycystic Kidney, Autosomal Recessive, Ultrasonography, Oxidoreductases Acting on CH-NH Group Donors, business.industry, Fatty Acids, Infant, Newborn, Hyperammonemia, medicine.disease, Autosomal Recessive Polycystic Kidney Disease, 030104 developmental biology, medicine.anatomical_structure, Mutation, Pediatrics, Perinatology and Child Health, Female, Differential diagnosis, Enlarged kidney, business
Abstract

Differential diagnosis of prenatally detected hyperechogenic and enlarged kidneys can be challenging as there is a broad phenotypic overlap between several rare genetic and non-genetic disorders. Metabolic diseases are among the rarest underlying disorders, but they demand particular attention as their prognosis and postnatal management differ from those of other diseases.We report two cases of cystic, hyperechogenic and enlarged kidneys detected on prenatal ultrasound images, resulting in the suspected diagnosis of autosomal recessive polycystic kidney disease (ARPKD). Postnatal clinical course and work-up, however, revealed early, neonatal forms of disorders of fatty acid oxidation (DFAO) in both cases, namely, glutaric acidemia type II, based on identification of the novel, homozygous splice-site mutation c.1117-2A G in the ETFDH gene, in one case and carnitine palmitoyltransferase II deficiency in the other case.Review of pre- and postnatal sonographic findings resulted in the identification of some important differences that might help to differentiate DFAO from ARPKD. In DFAO, kidneys are enlarged to a milder degree than in ARPKD, and the cysts are located ubiquitously, including also in the cortex and the subcapsular area. Interestingly, recent studies have pointed to a switch in metabolic homeostasis, referred to as the Warburg effect (aerobic glycolysis), as one of the underlying mechanisms of cell proliferation and cyst formation in cystic kidney disease. DFAO are characterized by the inhibition of oxidative phosphorylation, resulting in aerobic glycolysis, and thus they do resemble the Warburg effect. We therefore speculate that this inhibition might be one of the pathomechanisms of renal hyperproliferation and cyst formation in DFAO analogous to the reported findings in ARPKD.Neonatal forms of DFAO can be differentially diagnosed in neonates with cystic or hyperechogenic kidneys and necessitate immediate biochemical work-up to provide early metabolic management.

Published
2017
Full Text
View/download PDF

23. Plasma lipid profiles discriminate bacterial from viral infection in febrile children

Author

Wang, Xinzhu, Nijman, Ruud, Camuzeaux, Stephane, Sands, Caroline, Jackson, Heather, Kaforou, Myrsini, Emonts, Marieke, Herberg, Jethro A, Maconochie, Ian, Carrol, Enitan D, Paulus, Stephane C, Zenz, Werner, Van der Flier, Michiel, de Groot, Ronald, Martinon-Torres, Federico, Schlapbach, Luregn J, Pollard, Andrew J, Fink, Colin, Kuijpers, Taco T, Anderson, Suzanne, Lewis, Matthew R, Levin, Michael, McClure, Myra, Gormley, Stuart, Hamilton, Shea, Hourmat, Bernardo, Hoggart, Clive, Sancho-Shimizu, Vanessa, Wright, Victoria, 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, Coin, Lachlan MJ, Bokhand, S, Power, Sue, Barham, Heather, Pathan, N, Ridout, Jenna, White, Deborah, Thurston, Sarah, Faust, S, Patel, S, McCorkell, Jenni, Davies, P, Crate, 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, MartinonTorres, Nazareth, Martinon Sanchez, Jose Maria, Morillo Gutierrez, Beatriz, Mosquera Perez, Belen, Obando Pacheco, Pablo, Pardo-Seco, Jacobo, Pischedda, Sara, RiveroCalle, Irene, Rodriguez-Tenreiro, Carmen, Redondo-Collazo, Lorenzo, Salas Ellacuriagal, Antonio, Seren Fernandez, Sonia, Porto Silva, Maria del Sol, Vega, Ana, Vilanova Trillo, Lucia, Salas, Antonio, 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, Epalza Ibarrondo, Cristina, Fernandez Cooke, Elizabeth, 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, Boeddha, NP, Driessen, GJA, Emonts, M, Hazelzet, JA, 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, Frederick, Hannah, Jennings, Rebecca, Johnston, Joanne, Kenwright, Rhian, Pinnock, Elli, Agbeko, Rachel, Secka, Fatou, Bojang, Kalifa, Sarr, Isatou, Kebbeh, Ngange, Sey, Gibbi, Momodou, Saidy Khan, Cole, Fatoumata, Thomas, Gilleh, Antonio, Martin, Klobassa, Daniela S, Binder, Alexander, Schweintzger, Nina A, Sagmeister, Manfred, Baumgart, Hinrich, Baumgartner, Markus, Behrends, Uta, Biebl, Ariane, Birnbacher, Robert, Blanke, Jan-Gerd, Boelke, Carsten, Breuling, Kai, Brunner, Juergen, Buller, Maria, Dahlem, Peter, Dietrich, Beate, Eber, Ernst, Elias, Johannes, Emhofer, Josef, Etschmaier, Rosa, Farr, Sebastian, Girtler, Ylenia, Grigorow, Irina, Heimann, Konrad, Ihm, Ulrike, Jaros, Zdenek, Kalhoff, Hermann, Kaulfersch, Wilhelm, Kemen, Christoph, Klocker, Nina, Koester, Bernhard, Kohlmaier, Benno, Komini, Eleni, Kramer, Lydia, Neubert, Antje, Ortner, Daniel, Pescollderungg, Lydia, Pfurtscheller, Klaus, Reiter, Karl, Ristic, Goran, Roedl, Siegfried, Sellner, Andrea, Sonnleitner, Astrid, Sperl, Matthias, Stelzl, Wolfgang, Till, Holger, Trobisch, Andreas, Vierzig, Anne, Vogel, Ulrich, Weingarten, Christina, Welke, Stefanie, Wimmer, Andreas, Wintergerst, Uwe, Wueller, Daniel, Zaunschirm, Andrew, Ziuraite, Ieva, Zukovskaja, Veslava, Consortium, EUCLIDS, Sands, Caroline [0000-0002-3749-7941], Jackson, Heather [0000-0002-1054-9983], Kaforou, Myrsini [0000-0001-9878-4007], Paulus, Stephane C [0000-0002-0703-9114], Martinon-Torres, Federico [0000-0002-9023-581X], Apollo - University of Cambridge Repository, Pediatric surgery, AII - Infectious diseases, Internal medicine, Pathology, Psychiatry, Amsterdam Reproduction & Development (AR&D), Posfay Barbe, Klara, European Commission, National Institute for Health Research (UK), NIHR Biomedical Research Centre (UK), Medical Research Council (UK), Wellcome Trust, Pediatrics, Public Health, Paediatric Infectious Diseases / Rheumatology / Immunology, Amsterdam Neuroscience - Neuroinfection & -inflammation, Neurology, Medical Microbiology and Infection Prevention, and Critical care, Anesthesiology, Peri-operative and Emergency medicine (CAPE)

Subjects
Male, 0301 basic medicine, ACCURACY, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], MENINGITIS, Antibiotics, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], MathematicsofComputing_GENERAL, lcsh:Medicine, 0601 Biochemistry and Cell Biology, chemistry.chemical_compound, 0302 clinical medicine, ComputingMethodologies_SYMBOLICANDALGEBRAICMANIPULATION, Blood plasma, 030212 general & internal medicine, Child, lcsh:Science, ddc:618, Multidisciplinary, music.instrument, TheoryofComputation_GENERAL, Bacterial Infections, Lipidome, ddc, Sphingomyelins, 3. Good health, Cholesterol, Virus Diseases, Child, Preschool, Female, Adolescent, medicine.drug_class, Bilirubin, Inositol Phosphates, 0299 Other Physical Sciences, 610 Medicine & health, DIAGNOSIS, Fever of Unknown Origin, Article, Virus, Diagnosis, Differential, 03 medical and health sciences, Lactosylceramide, Journal Article, medicine, Metabolomics, Humans, General, music, business.industry, lcsh:R, Infant, Lysophosphatidylcholines, Diagnostic markers, Omics, EUCLIDS consortium, 030104 developmental biology, chemistry, Immunology, lcsh:Q, Software_PROGRAMMINGLANGUAGES, business, ddc:600, Biomarkers
Abstract

EUCLIDS consortium., Fever is the most common reason that children present to Emergency Departments. Clinical signs and symptoms suggestive of bacterial infection are often non-specific, and there is no definitive test for the accurate diagnosis of infection. The ‘omics’ approaches to identifying biomarkers from the host-response to bacterial infection are promising. In this study, lipidomic analysis was carried out with plasma samples obtained from febrile children with confirmed bacterial infection (n = 20) and confirmed viral infection (n = 20). We show for the first time that bacterial and viral infection produces distinct profile in the host lipidome. Some species of glycerophosphoinositol, sphingomyelin, lysophosphatidylcholine and cholesterol sulfate were higher in the confirmed virus infected group, while some species of fatty acids, glycerophosphocholine, glycerophosphoserine, lactosylceramide and bilirubin were lower in the confirmed virus infected group when compared with confirmed bacterial infected group. A combination of three lipids achieved an area under the receiver operating characteristic (ROC) curve of 0.911 (95% CI 0.81 to 0.98). This pilot study demonstrates the potential of metabolic biomarkers to assist clinicians in distinguishing bacterial from viral infection in febrile children, to facilitate effective clinical management and to the limit inappropriate use of antibiotics., This work was partially supported by the European Seventh Framework Programme for Research and Technological Development (FP7) under EUCLIDS Grant Agreement no. 279185. ICED: The Research was supported by the National Institute for Health Research Biomedical Research Centre based at Imperial College. This work was further supported by the Medical Research Council and National Institute for Health Research [grant number MC_PC_12025] through funding for the MRC-NIHR National Phenome Centre, infrastructure support was provided by the National Institute for Health Research (NIHR) Biomedical Research Centre (BRC) at Imperial NHS Healthcare Trust. MK acknowledges funding from the Wellcome Trust (Sir Henry Wellcome Fellowship grant 206508/Z/17/Z).

Published
2019
Full Text
View/download PDF

26. Plasma lipid profiles discriminate bacterial from viral infection in febrile children

Author

Wang, X. (Xinzhu), Nijman, R.G. (Ruud), Camuzeaux, S. (Stephane), Sands, C. (Caroline), Jackson, H. (Heather), Kaforou, M. (Myrsini), Emonts, M. (Marieke), Herberg, J.A. (Jethro A.), MacOnochie, I.K. (Ian), Carrol, E.D. (Enitan), Paulus, S.C. (Stephane C.), Zenz, W. (Werner), Flier, M. (Michiel) van der, Groot, R. (Ronald) de, Martinon-Torres, F. (Federico), Schlapbach, L.J. (Luregn), Pollard, A.J. (Andrew J.), Fink, C. (Colin), Kuijpers, T.T. (Taco T.), Anderson, S. (Suzanne), Lewis, M.R. (Matthew R.), Levin, M. (Michael), McClure, M. (Myra), Gormley, S. (Stuart), Hamilton, S. (Shea), Hourmat, B. (Bernardo), Hoggart, C. (Clive), Sancho-Shimizu, V. (Vanessa), Wright, V.J. (Victoria), Abdulla, A. (Amina), Agapow, P. (Paul), Bartlett, M. (Maeve), Bellos, E. (Evangelos), Eleftherohorinou, H. (Hariklia), Galassini, R. (Rachel), Inwald, D. (David), Mashbat, M. (Meg), Menikou, S. (Stefanie), Mustafa, S. (Sobia), Nadel, S. (Simon), Rahman, R. (Rahmeen), Thakker, C. (Clare), Coin, L.M.J. (Lachlan M. J.), Bokhandi, S. (S.), Power, S. (Sue), Barham, H. (Heather), Pathan, D.N. (Dr N), Ridout, J. (Jenna), White, D. (Deborah), Thurston, S. (Sarah), Faust, D. (Dominik), Patel, S.Y. (Smita Y.), McCorkell, J. (Jenni), Davies, P. (P.), Crate, L. (Lindsey), Navarra, H. (Helen), Carter, S. (Stephanie), Ramaiah, R. (R.), Patel, R. (Rekha), Tuffrey, C. (Catherine), Gribbin, A. (Andrew), McCready, S. (Sharon), Peters, M. (Mark), Hardy, K. (Katie), Standing, F. (Fran), O’Neill, L. (Lauren), Abelake, E. (Eugenia), Deep, A. (Akash), Nsirim, E. (Eniola), Willis, L. (Louise), Young, Z. (Zoe), Royad, C. (C.), White, S. (Sonia), Fortune, P.M. (P. M.), Hudnott, P. (Phil), González, F.Á. (Fernando Álvez), Barral-Arca, R. (Ruth), Cebey-López, M. (Miriam), Curras-Tuala, M.J. (María José), García, N. (Natalia), Vicente, L.G. (Luisa García), Gómez-Carballa, A. (Alberto), Rial, J.G. (Jose Gómez), Beiroa, A.G. (Andrea Grela), Grande, A.J. (Antonio Justicia), Iglesias, P.L. (Pilar Leboráns), Santos, A.E.M. (Alba Elena Martínez), Martinón-Torres, F. (Federico), MartinónTorres, N. (Nazareth), Sánchez, J.M.M. (José María Martinón), Gutiérrez, B.M. (Beatriz Morillo), Pérez, B.M. (Belén Mosquera), Pacheco, P.O. (Pablo Obando), Pardo-Seco, J. (Jacobo), Pischedda, S. (Sara), RiveroCalle, I. (Irene), Rodríguez-Tenreiro, C. (Carmen), Redondo-Collazo, L. (Lorenzo), Ellacuriagal, A.S. (Antonio Salas), Fernández, S.S. (Sonia Serén), Silva, M.S.P. (María del Sol Porto), Vega, A. (Ana), Trillo, L.V. (Lucía Vilanova), Salas, A. (Antonio), Reyes, S.B. (Susana Beatriz), León, M.C.L. (María Cruz León), Mingorance, Á.N. (Álvaro Navarro), Barrios, X.G. (Xavier Gabaldó), Vergara, E.O. (Eider Oñate), Torre, A.C. (Andrés Concha), Vivanco, A. (Ana), Fernández, R. (Reyes), Sánchez, F.G. (Francisco Giménez), Forte, M.S. (Miguel Sánchez), Rojo, P. (Pablo), Contreras, J.R. (J. Ruiz), Palacios, A. (Alba), Ibarrondo, C.E. (Cristina Epalza), Cooke, E.F. (Elizabeth Fernández), Navarro, M. (Marisa), Álvarez, C.Á. (Cristina Álvarez), Lozano, M.J. (María José), Carreras, E. (Eduardo), Sanagustín, S.B. (Sonia Brió), Neth, O. (Olaf), Padilla, M.C.M. (Ma del Carmen Martínez), Tato, L.M.P. (Luis Manuel Prieto), Guillén, S. (Sara), Silveira, L.F. (Laura Fernández), Moreno, D. (David), van Furth, A.M.T. (A. M. Tutu), Boeddha, N.P. (Navin), Driessen, G.J.A. (Gertjan), Hazelzet, J.A. (Jan), Pajkrt, D. (D.), Sanders, E.A.M. (E. A.M.), van de Beek, D. (D.), Ende, A. (A.) van der, Philipsen, H.L.A. (H. L.A.), Adeel, A.O.A. (A. O.A.), Breukels, M.A. (M. A.), Brinkman, D.M.C., de Korte, C.C.M.M. (C. C.M.M.), de Vries, E. (E.), Waal, W.J. (Wouter) de, Dekkers, R. (R.), Dings-Lammertink, A. (A.), Doedens, R.A. (R. A.), Donker, A.E. (A.), Dousma, M. (M.), Faber, T.E. (T. E.), Gerrit, G.P.J.M. (Gerardus), Gerver, J.A.M. (J. A.M.), Heidema, J. (Jojanneke), Veen, J.H.-V. (J. Homan-van der), Jacobs, M.A.M. (M. A.M.), Jansen, N.J.G. (N. J.G.), Kawczynski, P. (P.), Klucovska, K. (K.), Kneyber, M.C.J. (M. C.J.), Koopman-Keemink, Y. (Yvonne), Langenhorst, V.J. (V. J.), Leusink, J. (J.), Loza, B.F. (Bettina F.), Merth, I.T. (I. T.), Miedema, C.J. (C. J.), Neeleman, C. (C.), Noordzij, J.G. (Jeroen), Obihara, C.C. (Charlie C.), van Overbeek – van Gils, A.L.T. (A. L.T.), Poortman, G.H. (G. H.), Potgieter, S.T. (S. T.), Potjewijd, J. (J.), Rosias, P.P.R. (Philippe), Sprong, T. (Tom), ten Tussher, G.W. (G. W.), Thio, B.J. (B. J.), Tramper-Stranders, G.A. (Gerdien), Deuren, M. (Marcel) van, van der Meer, H. (H.), van Kuppevelt, A.J.M. (A. J.M.), van Wermeskerken, A.M. (A. M.), Verwijs, W.A. (W. A.), Wolfs, T.F.W. (T. F.W.), Agyeman, P. (Philipp), Aebi, C. (Christoph), Berger, C. (Christoph), Giannoni, P., Stocker, M. (Martin), Posfay-Barbe, K.M. (Klara M.), Heininger, U. (Ulrich), Bernhard-Stirnemann, S. (Sara), Niederer-Loher, A. (Anita), Kahlert, C. (Christian), Hasters, P. (Paul), Relly, C. (Christa), Baer, W. (Walter), Frederick, H. (Hannah), Jennings, R. (Rebecca), Johnston, J. (Joanne), Kenwright, R. (Rhian), Pinnock, E. (Elli), Agbeko, R. (Rachel), Secka, F. (Fatou), Bojang, K. (Kalifa), Sarr, I. (Isatou), Kebbeh, N. (Ngange), Sey, G. (Gibbi), Momodou, (), khan, S. (Saidy), Cole, F. (Fatoumata), Thomas, G. (Gilleh), Antonio, M. (Martin), Klobassa, D.S. (Daniela S.), Binder, A. (Alexander), Schweintzger, N.A. (Nina A.), Sagmeister, M. (Manfred), Baumgart, H. (Hinrich), Baumgartner, M. (Markus), Behrends, U. (Uta), Biebl, A. (Ariane), Birnbacher, R. (Robert), Blanke, J.-G. (Jan-Gerd), Boelke, C. (Carsten), Breuling, K. (Kai), Brunner, J. (Jürgen), Buller, M. (Maria), Dahlem, P. (Peter), Dietrich, B. (Beate), Eber, E. (Ernst), Elias, J. (Johannes), Emhofer, J. (Josef), Etschmaier, R. (Rosa), Farr, S. (Sebastian), Girtler, Y. (Ylenia), Grigorow, I. (Irina), Heimann, K. (Konrad), Ihm, U. (Ulrike), Jaros, Z. (Zdenek), Kalhoff, H. (Hermann), Kaulfersch, W. (Wilhelm), Kemen, C. (Christoph), Klocker, N. (Nina), Köster, B. (Bernhard), Kohlmaier, B. (Benno), Komini, E. (Eleni), Kramer, L. (Lydia), Neubert, A. (Antje), Ortner, D. (Daniel), Pescollderungg, L. (Lydia), Pfurtscheller, K. (Klaus), Reiter, K. (Karl), Ristic, G. (Goran), Rödl, S. (Siegfried), Sellner, A. (Andrea), Sonnleitner, A. (Astrid), Sperl, M. (Matthias), Stelzl, W. (Wolfgang), Till, H. (Holger), Trobisch, A. (Andreas), Vierzig, A. (Anne), Vogel, U. (Ulrich), Weingarten, C. (Christina), Welke, S. (Stefanie), Wimmer, A. (Andreas), Wintergerst, U. (Uwe), Wüller, D. (Daniel), Zaunschirm, A. (Andrew), Ziuraite, I. (Ieva), Žukovskaja, V. (Veslava), Wang, X. (Xinzhu), Nijman, R.G. (Ruud), Camuzeaux, S. (Stephane), Sands, C. (Caroline), Jackson, H. (Heather), Kaforou, M. (Myrsini), Emonts, M. (Marieke), Herberg, J.A. (Jethro A.), MacOnochie, I.K. (Ian), Carrol, E.D. (Enitan), Paulus, S.C. (Stephane C.), Zenz, W. (Werner), Flier, M. (Michiel) van der, Groot, R. (Ronald) de, Martinon-Torres, F. (Federico), Schlapbach, L.J. (Luregn), Pollard, A.J. (Andrew J.), Fink, C. (Colin), Kuijpers, T.T. (Taco T.), Anderson, S. (Suzanne), Lewis, M.R. (Matthew R.), Levin, M. (Michael), McClure, M. (Myra), Gormley, S. (Stuart), Hamilton, S. (Shea), Hourmat, B. (Bernardo), Hoggart, C. (Clive), Sancho-Shimizu, V. (Vanessa), Wright, V.J. (Victoria), Abdulla, A. (Amina), Agapow, P. (Paul), Bartlett, M. (Maeve), Bellos, E. (Evangelos), Eleftherohorinou, H. (Hariklia), Galassini, R. (Rachel), Inwald, D. (David), Mashbat, M. (Meg), Menikou, S. (Stefanie), Mustafa, S. (Sobia), Nadel, S. (Simon), Rahman, R. (Rahmeen), Thakker, C. (Clare), Coin, L.M.J. (Lachlan M. J.), Bokhandi, S. (S.), Power, S. (Sue), Barham, H. (Heather), Pathan, D.N. (Dr N), Ridout, J. (Jenna), White, D. (Deborah), Thurston, S. (Sarah), Faust, D. (Dominik), Patel, S.Y. (Smita Y.), McCorkell, J. (Jenni), Davies, P. (P.), Crate, L. (Lindsey), Navarra, H. (Helen), Carter, S. (Stephanie), Ramaiah, R. (R.), Patel, R. (Rekha), Tuffrey, C. (Catherine), Gribbin, A. (Andrew), McCready, S. (Sharon), Peters, M. (Mark), Hardy, K. (Katie), Standing, F. (Fran), O’Neill, L. (Lauren), Abelake, E. (Eugenia), Deep, A. (Akash), Nsirim, E. (Eniola), Willis, L. (Louise), Young, Z. (Zoe), Royad, C. (C.), White, S. (Sonia), Fortune, P.M. (P. M.), Hudnott, P. (Phil), González, F.Á. (Fernando Álvez), Barral-Arca, R. (Ruth), Cebey-López, M. (Miriam), Curras-Tuala, M.J. (María José), García, N. (Natalia), Vicente, L.G. (Luisa García), Gómez-Carballa, A. (Alberto), Rial, J.G. (Jose Gómez), Beiroa, A.G. (Andrea Grela), Grande, A.J. (Antonio Justicia), Iglesias, P.L. (Pilar Leboráns), Santos, A.E.M. (Alba Elena Martínez), Martinón-Torres, F. (Federico), MartinónTorres, N. (Nazareth), Sánchez, J.M.M. (José María Martinón), Gutiérrez, B.M. (Beatriz Morillo), Pérez, B.M. (Belén Mosquera), Pacheco, P.O. (Pablo Obando), Pardo-Seco, J. (Jacobo), Pischedda, S. (Sara), RiveroCalle, I. (Irene), Rodríguez-Tenreiro, C. (Carmen), Redondo-Collazo, L. (Lorenzo), Ellacuriagal, A.S. (Antonio Salas), Fernández, S.S. (Sonia Serén), Silva, M.S.P. (María del Sol Porto), Vega, A. (Ana), Trillo, L.V. (Lucía Vilanova), Salas, A. (Antonio), Reyes, S.B. (Susana Beatriz), León, M.C.L. (María Cruz León), Mingorance, Á.N. (Álvaro Navarro), Barrios, X.G. (Xavier Gabaldó), Vergara, E.O. (Eider Oñate), Torre, A.C. (Andrés Concha), Vivanco, A. (Ana), Fernández, R. (Reyes), Sánchez, F.G. (Francisco Giménez), Forte, M.S. (Miguel Sánchez), Rojo, P. (Pablo), Contreras, J.R. (J. Ruiz), Palacios, A. (Alba), Ibarrondo, C.E. (Cristina Epalza), Cooke, E.F. (Elizabeth Fernández), Navarro, M. (Marisa), Álvarez, C.Á. (Cristina Álvarez), Lozano, M.J. (María José), Carreras, E. (Eduardo), Sanagustín, S.B. (Sonia Brió), Neth, O. (Olaf), Padilla, M.C.M. (Ma del Carmen Martínez), Tato, L.M.P. (Luis Manuel Prieto), Guillén, S. (Sara), Silveira, L.F. (Laura Fernández), Moreno, D. (David), van Furth, A.M.T. (A. M. Tutu), Boeddha, N.P. (Navin), Driessen, G.J.A. (Gertjan), Hazelzet, J.A. (Jan), Pajkrt, D. (D.), Sanders, E.A.M. (E. A.M.), van de Beek, D. (D.), Ende, A. (A.) van der, Philipsen, H.L.A. (H. L.A.), Adeel, A.O.A. (A. O.A.), Breukels, M.A. (M. A.), Brinkman, D.M.C., de Korte, C.C.M.M. (C. C.M.M.), de Vries, E. (E.), Waal, W.J. (Wouter) de, Dekkers, R. (R.), Dings-Lammertink, A. (A.), Doedens, R.A. (R. A.), Donker, A.E. (A.), Dousma, M. (M.), Faber, T.E. (T. E.), Gerrit, G.P.J.M. (Gerardus), Gerver, J.A.M. (J. A.M.), Heidema, J. (Jojanneke), Veen, J.H.-V. (J. Homan-van der), Jacobs, M.A.M. (M. A.M.), Jansen, N.J.G. (N. J.G.), Kawczynski, P. (P.), Klucovska, K. (K.), Kneyber, M.C.J. (M. C.J.), Koopman-Keemink, Y. (Yvonne), Langenhorst, V.J. (V. J.), Leusink, J. (J.), Loza, B.F. (Bettina F.), Merth, I.T. (I. T.), Miedema, C.J. (C. J.), Neeleman, C. (C.), Noordzij, J.G. (Jeroen), Obihara, C.C. (Charlie C.), van Overbeek – van Gils, A.L.T. (A. L.T.), Poortman, G.H. (G. H.), Potgieter, S.T. (S. T.), Potjewijd, J. (J.), Rosias, P.P.R. (Philippe), Sprong, T. (Tom), ten Tussher, G.W. (G. W.), Thio, B.J. (B. J.), Tramper-Stranders, G.A. (Gerdien), Deuren, M. (Marcel) van, van der Meer, H. (H.), van Kuppevelt, A.J.M. (A. J.M.), van Wermeskerken, A.M. (A. M.), Verwijs, W.A. (W. A.), Wolfs, T.F.W. (T. F.W.), Agyeman, P. (Philipp), Aebi, C. (Christoph), Berger, C. (Christoph), Giannoni, P., Stocker, M. (Martin), Posfay-Barbe, K.M. (Klara M.), Heininger, U. (Ulrich), Bernhard-Stirnemann, S. (Sara), Niederer-Loher, A. (Anita), Kahlert, C. (Christian), Hasters, P. (Paul), Relly, C. (Christa), Baer, W. (Walter), Frederick, H. (Hannah), Jennings, R. (Rebecca), Johnston, J. (Joanne), Kenwright, R. (Rhian), Pinnock, E. (Elli), Agbeko, R. (Rachel), Secka, F. (Fatou), Bojang, K. (Kalifa), Sarr, I. (Isatou), Kebbeh, N. (Ngange), Sey, G. (Gibbi), Momodou, (), khan, S. (Saidy), Cole, F. (Fatoumata), Thomas, G. (Gilleh), Antonio, M. (Martin), Klobassa, D.S. (Daniela S.), Binder, A. (Alexander), Schweintzger, N.A. (Nina A.), Sagmeister, M. (Manfred), Baumgart, H. (Hinrich), Baumgartner, M. (Markus), Behrends, U. (Uta), Biebl, A. (Ariane), Birnbacher, R. (Robert), Blanke, J.-G. (Jan-Gerd), Boelke, C. (Carsten), Breuling, K. (Kai), Brunner, J. (Jürgen), Buller, M. (Maria), Dahlem, P. (Peter), Dietrich, B. (Beate), Eber, E. (Ernst), Elias, J. (Johannes), Emhofer, J. (Josef), Etschmaier, R. (Rosa), Farr, S. (Sebastian), Girtler, Y. (Ylenia), Grigorow, I. (Irina), Heimann, K. (Konrad), Ihm, U. (Ulrike), Jaros, Z. (Zdenek), Kalhoff, H. (Hermann), Kaulfersch, W. (Wilhelm), Kemen, C. (Christoph), Klocker, N. (Nina), Köster, B. (Bernhard), Kohlmaier, B. (Benno), Komini, E. (Eleni), Kramer, L. (Lydia), Neubert, A. (Antje), Ortner, D. (Daniel), Pescollderungg, L. (Lydia), Pfurtscheller, K. (Klaus), Reiter, K. (Karl), Ristic, G. (Goran), Rödl, S. (Siegfried), Sellner, A. (Andrea), Sonnleitner, A. (Astrid), Sperl, M. (Matthias), Stelzl, W. (Wolfgang), Till, H. (Holger), Trobisch, A. (Andreas), Vierzig, A. (Anne), Vogel, U. (Ulrich), Weingarten, C. (Christina), Welke, S. (Stefanie), Wimmer, A. (Andreas), Wintergerst, U. (Uwe), Wüller, D. (Daniel), Zaunschirm, A. (Andrew), Ziuraite, I. (Ieva), and Žukovskaja, V. (Veslava)

Abstract

Fever is the most common reason that children present to Emergency Departments. Clinical signs and symptoms suggestive of bacterial infection are

Published
2019
Full Text
View/download PDF

27. Plasma lipid profiles discriminate bacterial from viral infection in febrile children

Author

Wang, X, Nijman, R, Camuzeaux, S, Sands, C, Jackson, H, Kaforou, M, Emonts, M, Herberg, JA, Maconochie, I, Carrol, ED, Paulus, SC, Zenz, W, Van der Flier, M, de Groot, R, Martinon-Torres, F, Schlapbach, LJ, Pollard, AJ, Fink, C, Kuijpers, TT, Anderson, S, Lewis, MR, Levin, M, McClure, M, Gormley, S, Hamilton, S, Hourmat, B, Hoggart, C, Sancho-Shimizu, V, Wright, 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, Coin, LMJ, Bokhand, S, Power, S, Barham, H, Pathan, N, Ridout, J, White, D, Thurston, S, Faust, S, Patel, S, McCorkell, J, Davies, P, Crate, 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, MartinonTorres, N, Martinon Sanchez, JM, Morillo Gutierrez, B, Mosquera Perez, B, Obando Pacheco, P, Pardo-Seco, J, Pischedda, S, RiveroCalle, I, Rodriguez-Tenreiro, C, Redondo-Collazo, L, Salas Ellacuriagal, A, Seren Fernandez, S, Porto Silva, MDS, Vega, A, Vilanova Trillo, L, Salas, 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, Epalza Ibarrondo, C, Fernandez Cooke, E, 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, Boeddha, NP, Driessen, GJA, Hazelzet, JA, 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, Frederick, H, Jennings, R, Johnston, J, Kenwright, R, Pinnock, E, Agbeko, R, Secka, F, Bojang, K, Sarr, I, Kebbeh, N, Sey, G, Momodou, SK, Cole, F, Thomas, G, Antonio, M, Klobassa, DS, Binder, A, Schweintzger, NA, Sagmeister, M, Baumgart, H, Baumgartner, M, Behrends, U, Biebl, A, Birnbacher, R, Blanke, J-G, Boelke, C, Breuling, K, Brunner, J, Buller, M, Dahlem, P, Dietrich, B, Eber, E, Elias, J, Emhofer, J, Etschmaier, R, Farr, S, Girtler, Y, Grigorow, I, Heimann, K, Ihm, U, Jaros, Z, Kalhoff, H, Kaulfersch, W, Kemen, C, Klocker, N, Koester, B, Kohlmaier, B, Komini, E, Kramer, L, Neubert, A, Ortner, D, Pescollderungg, L, Pfurtscheller, K, Reiter, K, Ristic, G, Roedl, S, Sellner, A, Sonnleitner, A, Sperl, M, Stelzl, W, Till, H, Trobisch, A, Vierzig, A, Vogel, U, Weingarten, C, Welke, S, Wimmer, A, Wintergerst, U, Wueller, D, Zaunschirm, A, Ziuraite, I, Zukovskaja, V, Wang, X, Nijman, R, Camuzeaux, S, Sands, C, Jackson, H, Kaforou, M, Emonts, M, Herberg, JA, Maconochie, I, Carrol, ED, Paulus, SC, Zenz, W, Van der Flier, M, de Groot, R, Martinon-Torres, F, Schlapbach, LJ, Pollard, AJ, Fink, C, Kuijpers, TT, Anderson, S, Lewis, MR, Levin, M, McClure, M, Gormley, S, Hamilton, S, Hourmat, B, Hoggart, C, Sancho-Shimizu, V, Wright, 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, Coin, LMJ, Bokhand, S, Power, S, Barham, H, Pathan, N, Ridout, J, White, D, Thurston, S, Faust, S, Patel, S, McCorkell, J, Davies, P, Crate, 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, MartinonTorres, N, Martinon Sanchez, JM, Morillo Gutierrez, B, Mosquera Perez, B, Obando Pacheco, P, Pardo-Seco, J, Pischedda, S, RiveroCalle, I, Rodriguez-Tenreiro, C, Redondo-Collazo, L, Salas Ellacuriagal, A, Seren Fernandez, S, Porto Silva, MDS, Vega, A, Vilanova Trillo, L, Salas, 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, Epalza Ibarrondo, C, Fernandez Cooke, E, 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, Boeddha, NP, Driessen, GJA, Hazelzet, JA, 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, Frederick, H, Jennings, R, Johnston, J, Kenwright, R, Pinnock, E, Agbeko, R, Secka, F, Bojang, K, Sarr, I, Kebbeh, N, Sey, G, Momodou, SK, Cole, F, Thomas, G, Antonio, M, Klobassa, DS, Binder, A, Schweintzger, NA, Sagmeister, M, Baumgart, H, Baumgartner, M, Behrends, U, Biebl, A, Birnbacher, R, Blanke, J-G, Boelke, C, Breuling, K, Brunner, J, Buller, M, Dahlem, P, Dietrich, B, Eber, E, Elias, J, Emhofer, J, Etschmaier, R, Farr, S, Girtler, Y, Grigorow, I, Heimann, K, Ihm, U, Jaros, Z, Kalhoff, H, Kaulfersch, W, Kemen, C, Klocker, N, Koester, B, Kohlmaier, B, Komini, E, Kramer, L, Neubert, A, Ortner, D, Pescollderungg, L, Pfurtscheller, K, Reiter, K, Ristic, G, Roedl, S, Sellner, A, Sonnleitner, A, Sperl, M, Stelzl, W, Till, H, Trobisch, A, Vierzig, A, Vogel, U, Weingarten, C, Welke, S, Wimmer, A, Wintergerst, U, Wueller, D, Zaunschirm, A, Ziuraite, I, and Zukovskaja, V

Abstract

Fever is the most common reason that children present to Emergency Departments. Clinical signs and symptoms suggestive of bacterial infection are often non-specific, and there is no definitive test for the accurate diagnosis of infection. The 'omics' approaches to identifying biomarkers from the host-response to bacterial infection are promising. In this study, lipidomic analysis was carried out with plasma samples obtained from febrile children with confirmed bacterial infection (n = 20) and confirmed viral infection (n = 20). We show for the first time that bacterial and viral infection produces distinct profile in the host lipidome. Some species of glycerophosphoinositol, sphingomyelin, lysophosphatidylcholine and cholesterol sulfate were higher in the confirmed virus infected group, while some species of fatty acids, glycerophosphocholine, glycerophosphoserine, lactosylceramide and bilirubin were lower in the confirmed virus infected group when compared with confirmed bacterial infected group. A combination of three lipids achieved an area under the receiver operating characteristic (ROC) curve of 0.911 (95% CI 0.81 to 0.98). This pilot study demonstrates the potential of metabolic biomarkers to assist clinicians in distinguishing bacterial from viral infection in febrile children, to facilitate effective clinical management and to the limit inappropriate use of antibiotics.

Published
2019

29. The pericardial reflection and the tip of the central venous catheter — topographical analysis in stillborn babies

Author

Martin Scaal, Anne Vierzig, Frank Eifinger, Bernhard Roth, and Friederike Koerber

Subjects
Male, Catheterization, Central Venous, medicine.medical_specialty, medicine.medical_treatment, Perforation (oil well), Contrast Media, 03 medical and health sciences, 0302 clinical medicine, 030202 anesthesiology, Superior vena cava, Cardiac tamponade, Cadaver, medicine, Humans, Pericardium, Radiology, Nuclear Medicine and imaging, Fetal Death, business.industry, Dissection, Infant, Newborn, 030208 emergency & critical care medicine, medicine.disease, Cardiac Tamponade, Surgery, Catheter, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Thoracic vertebrae, Female, Tamponade, business, Central venous catheter
Abstract

Central venous cannulation is widely used in neonatal critical care. Pericardial tamponade caused by vessel wall perforation can occur if the catheter tip induces extravasation at the level of the pericardium. To investigate the level of the superior pericardial reflection in stillborn babies. We dissected 20 bodies (11 female, mean gestational age 33 6/7 weeks, range 25–43 weeks), with careful opening of the thoracic area. After injecting contrast medium into the pericardial sac, we introduced a catheter through the right internal jugular vein. We then took radiographs to analyse the relationship between visual osseous landmarks and the pericardium. Mean distance between the pericardial reflection at its upper end and the first thoracic vertebra was 1.3 cm (standard deviation [SD]: 0.3 cm) and did not extend over the 3rd intercostal space. The mean distance from the entry of the superior vena cava into the pericardial sac and the 1st thoracic vertebra was 2.3 cm (SD: 0.5). The upper end of the pericardial reflection in neonates at autopsy lies below the middle of the 3rd thoracic vertebra. The tip of an upper inserted catheter should not extend below the level of the 3rd intercostal space.

Published
2016
Full Text
View/download PDF

30. Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3

Author

Ulrike Schindlbeck, Winfried Baden, Jan Hegermann, Stefanie Höppner, Anne Vierzig, Christian F. Poets, Charalampos Aslanidis, Angela Zacharasiewicz, Anton H. van Kaam, Andrea Schams, Matthias Griese, Matthias Kappler, Peter Lohse, Sabrina Frixel, Gerhard Liebisch, Thomas Wittmann, Christoph Wrede, Ralf Zarbock, Dominik Hartl, Matthias V. Kopp, ARD - Amsterdam Reproduction and Development, and Neonatology

Subjects
0301 basic medicine, Pathology, medicine.medical_specialty, Neonatal respiratory distress syndrome, ABCA3, Lamellar granule, lcsh:Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, lcsh:QD415-436, Respiratory system, Molecular Biology, Genetics (clinical), Lung, biology, medicine.diagnostic_test, business.industry, lcsh:RM1-950, Interstitial lung disease, medicine.disease, Molecular medicine, 3. Good health, 030104 developmental biology, Bronchoalveolar lavage, medicine.anatomical_structure, lcsh:Therapeutics. Pharmacology, 030228 respiratory system, biology.protein, Molecular Medicine, business, Research Article
Abstract

The ABCA3 gene encodes a lipid transporter in type II pneumocytes critical for survival and normal respiratory function. The frequent ABCA3 variant R288K increases the risk for neonatal respiratory distress syndrome among term and late preterm neonates, but its role in children’s interstitial lung disease has not been studied in detail. In a retrospective cohort study of 228 children with interstitial lung disease related to the alveolar surfactant system, the frequency of R288K was assessed and the phenotype of patients carrying a single R288K variant further characterized by clinical course, lung histology, computed tomography and bronchoalveolar lavage phosphatidylcholine PC 32:0. Cell lines stably transfected with ABCA3-R288K were analyzed for intracellular transcription, processing and targeting of the protein. ABCA3 function was assessed by detoxification assay of doxorubicin, and the induction and volume of lamellar bodies. We found nine children with interstitial lung disease carrying a heterozygous R288K variant, a frequency significantly higher than in the general Caucasian population. All identified patients had neonatal respiratory insufficiency, recovered and developed chronic interstitial lung disease with intermittent exacerbations during early childhood. In vitro analysis showed normal transcription, processing, and targeting of ABCA3-R288K, but impaired detoxification function and smaller lamellar bodies. We propose that the R288K variant can underlie interstitial lung disease in childhood due to reduced function of ABCA3, demonstrated by decelerated detoxification of doxorubicin, reduced PC 32:0 content and decreased lamellar body volume.

Published
2016
Full Text
View/download PDF

32. Life-threatening infections in children in Europe (the EUCLIDS Project): a prospective cohort study

Author

Federico Martinón-Torres, Antonio Salas, Irene Rivero-Calle, Miriam Cebey-López, Jacobo Pardo-Seco, Jethro A Herberg, Navin P Boeddha, Daniela S Klobassa, Fatou Secka, Stephane Paulus, Ronald de Groot, Luregn J Schlapbach, Gertjan J Driessen, Suzanne T Anderson, Marieke Emonts, Werner Zenz, Enitan D Carrol, Michiel Van der Flier, Michael Levin, Lachlan Coin, Stuart Gormley, Shea Hamilton, Jethro Herberg, Bernardo Hourmat, Clive Hoggart, Myrsini Kaforou, Vanessa Sancho-Shimizu, Victoria Wright, Amina Abdulla, Paul Agapow, Maeve Bartlett, Evangelos Bellos, Hariklia Eleftherohorinou, Rachel Galassini, David Inwald, Meg Mashbat, Stefanie Menikou, Sobia Mustafa, Simon Nadel, Rahmeen Rahman, Clare Thakker, Sumit Bokhandi, Sue Power, Heather Barham, Nazima Pathan, Jenna Ridout, Deborah White, Sarah Thurston, Saul Faust, Sanjay Patel, Jenni McCorkell, Patrick Davies, Lindsey Crate, Helen Navarra, Stephanie Carter, Raghu Ramaiah, Rekha Patel, Catherine Tuffrey, Andrew Gribbin, Sharon McCready, Mark Peters, Katie Hardy, Fran Standing, Lauren O'Neill, Eugenia Abelake, Akash Deep, Eniola Nsirim, Andrew Pollard, Louise Willis, Zoe Young, C Royad, Sonia White, Peter Marc Fortune, Phil Hudnott, Antonio Salas Ellacuriaga, Fernando Álvez González, Ruth Barral-Arca, María José Curras-Tuala, Natalia García, Luisa García Vicente, Alberto Gómez-Carballa, Jose Gómez Rial, Andrea Grela Beiroa, Antonio Justicia Grande, Pilar Leboráns Iglesias, Alba Elena Martínez Santos, Nazareth Martinón-Torres, José María Martinón Sánchez, Beatriz Morillo Gutiérrez, Belén Mosquera Pérez, Pablo Obando Pacheco, Sara Pischedda, Carmen Rodríguez-Tenreiro, Lorenzo Redondo-Collazo, Sonia Serén Fernández, María del Sol Porto Silva, Ana Vega, Lucía Vilanova Trillo, Susana Beatriz Reyes, María Cruz León León, Álvaro Navarro Mingorance, Xavier Gabaldó Barrios, Eider Oñate Vergara, Andrés Concha Torre, Ana Vivanco, Reyes Fernández, Francisco Giménez Sánchez, Miguel Sánchez Forte, Pablo Rojo, Jesús Ruiz Contreras, Alba Palacios, Cristina Epalza Ibarrondo, Elizabeth Fernández Cooke, Marisa Navarro, Cristina Álvarez Álvarez, María José Lozano, Eduardo Carreras, Sonia Brió Sanagustín, Olaf Neth, María del Carmen Martínez Padilla, Luis Manuel Prieto Tato, Sara Guillén, Laura Fernández Silveira, David Moreno, A. Marceline van Furth, Michiel van der Flier, Navin Prekash Boeddha, Gertjan JA Driessen, Jan A Hazelzet, Taco W Kuijpers, Dasja Pajkrt, Elisabeth AM Sanders, Diederik van de Beek, Arie van der Ende, Ria LA Philipsen, Abdul OA Adeel, Meike A Breukels, Danielle MC Brinkman, Carla CMM de Korte, Esther de Vries, Wouter J de Waal, Roel Dekkers, Anouk Dings-Lammertink, Rienus A Doedens, Albertine E Donker, Mieke Dousma, Tina E Faber, G Peter JM Gerrits, Jan AM Gerver, Jojanneke Heidema, Jenneke Homan-van der Veen, Monique AM Jacobs, Nicolaas JG Jansen, Pawel Kawczynski, Kristine Klucovska, Martin CJ Kneyber, Yvonne Koopman-Keemink, Veerle J Langenhorst, José Leusink, Bettina F Loza, Istvan T Merth, Carien J Miedema, Chris Neeleman, Jeroen G Noordzij, Charles C Obihara, A Lidy T van Overbeek - van Gils, Geriska H Poortman, Steph T Potgieter, Joke Potjewijd, Philippe PR Rosias, Tom Sprong, Gavin W ten Tussher, Boony J Thio, Gerdien A Tramper-Stranders, Marcel van Deuren, Henny van der Meer, Andre JM van Kuppevelt, Anne-Marie van Wermeskerken, Wim A Verwijs, Tom FW Wolfs, Luregn Jan Schlapbach, Philipp Agyeman, Christoph Aebi, Christoph Berger, Eric Giannoni, Martin Stocker, Klara M Posfay-Barbe, Ulrich Heininger, Sara Bernhard-Stirnemann, Anita Niederer-Loher, Christian Kahlert, Paul Hasters, Christa Relly, Walter Baer, Enitan Carrol, Stéphane Paulus, Hannah Frederick, Rebecca Jennings, Joanne Johnston, Rhian Kenwright, Colin G Fink, Elli Pinnock, Rachel Sarah Agbeko, Kalifa A Bojang, Isatou Sarr, Ngange Kebbeh, Gibbi Sey, Momodou Saidykhan, Fatoumata Cole, Gilleh Thomas, Martin Antonio, Daniela Sabine Klobassa, Alexander Binder, Nina Alexandra Schweintzger, Manfred Sagmeister, Hinrich Baumgart, Markus Baumgartner, Uta Behrends, Ariane Biebl, Robert Birnbacher, Jan-Gerd Blanke, Carsten Boelke, Kai Breuling, Jürgen Brunner, Maria Buller, Peter Dahlem, Beate Dietrich, Ernst Eber, Johannes Elias, Josef Emhofer, Rosa Etschmaier, Sebastian Farr, Ylenia Girtler, Irina Grigorow, Konrad Heimann, Ulrike Ihm, Zdenek Jaros, Hermann Kalhoff, Wilhelm Kaulfersch, Christoph Kemen, Nina Klocker, Bernhard Köster, Benno Kohlmaier, Eleni Komini, Lydia Kramer, Antje Neubert, Daniel Ortner, Lydia Pescollderungg, Klaus Pfurtscheller, Karl Reiter, Goran Ristic, Siegfried Rödl, Andrea Sellner, Astrid Sonnleitner, Matthias Sperl, Wolfgang Stelzl, Holger Till, Andreas Trobisch, Anne Vierzig, Ulrich Vogel, Christina Weingarten, Stefanie Welke, Andreas Wimmer, Uwe Wintergerst, Daniel Wüller, Andrew Zaunschirm, Ieva Ziuraite, Veslava Žukovskaja, Posfay Barbe, Klara, Pediatrics, Huisarts & Ziekenhuis, Tranzo, Scientific center for care and wellbeing, ARD - Amsterdam Reproduction and Development, AII - Infectious diseases, Paediatric Infectious Diseases / Rheumatology / Immunology, ANS - Neuroinfection & -inflammation, Neurology, Medical Microbiology and Infection Prevention, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), The European Society for Paediatric Infectious Diseases, Meningitis Research Foundation, Imperial College Healthcare NHS Trust- BRC Funding, Critical care, Anesthesiology, Peri-operative and Emergency medicine (CAPE), University of Zurich, and Martinón-Torres, Federico

Subjects
Male, Pediatrics, RJ101, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Severity of Illness Index, Cohort Studies, 0302 clinical medicine, Cost of Illness, Developmental and Educational Psychology, 030212 general & internal medicine, Prospective Studies, Sepsis/epidemiology, Prospective cohort study, Child, media_common, ddc:618, Bacterial Infections, Europe, Child, Preschool, Cohort, Female, Algorithms, Cohort study, medicine.medical_specialty, 610 Medicine & health, Europe/epidemiology, Sepsis, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 030225 pediatrics, Severity of illness, medicine, media_common.cataloged_instance, Humans, 2735 Pediatrics, Perinatology and Child Health, European union, Preschool, Disease burden, 3204 Developmental and Educational Psychology, business.industry, Infant, Newborn, Infant, medicine.disease, Newborn, Pneumonia, 10036 Medical Clinic, Pediatrics, Perinatology and Child Health, business, Bacterial Infections/epidemiology
Abstract

Background Sepsis and severe focal infections represent a substantial disease burden in children admitted to hospital. We aimed to understand the burden of disease and outcomes in children with life-threatening bacterial infections in Europe. Methods The European Union Childhood Life-threatening Infectious Disease Study (EUCLIDS) was a prospective, multicentre, cohort study done in six countries in Europe. Patients aged 1 month to 18 years with sepsis (or suspected sepsis) or severe focal infections, admitted to 98 participating hospitals in the UK, Austria, Germany, Lithuania, Spain, and the Netherlands were prospectively recruited between July 1, 2012, and Dec 31, 2015. To assess disease burden and outcomes, we collected demographic and clinical data using a secured web-based platform and obtained microbiological data using locally available clinical diagnostic procedures. Findings 2844 patients were recruited and included in the analysis. 1512 (53·2%) of 2841 patients were male and median age was 39·1 months (IQR 12·4–93·9). 1229 (43·2%) patients had sepsis and 1615 (56·8%) had severe focal infections. Patients diagnosed with sepsis had a median age of 27·6 months (IQR 9·0–80·2), whereas those diagnosed with severe focal infections had a median age of 46·5 months (15·8–100·4; pInterpretation Mortality in children admitted to hospital for sepsis or severe focal infections is low in Europe. The disease burden is mainly in children younger than 5 years and is largely due to vaccine-preventable meningococcal and pneumococcal infections. Despite the availability and application of clinical procedures for microbiological diagnosis, the causative organism remained unidentified in approximately 50% of patients.

Published
2018
Full Text
View/download PDF

33. Symptomatic cerebral oedema during treatment of diabetic ketoacidosis: effect of adjuvant octreotide infusion

Author

Seewi Ora, Vierzig Anne, Roth Bernhard, and Schönau Eckhard

Subjects
Nutritional diseases. Deficiency diseases, RC620-627
Abstract

Abstract Introduction A potentially lethal complication of diabetic ketoacidosis (DKA) in children is brain oedema, whether caused by DKA itself or by the therapeutic infusion of insulin and fluids. Case presentation A 10-year old previously healthy boy with DKA became unconscious and apnoeic due to cerebral oedema (confirmed by abnormal EEG and CT-scan) during treatment with intravenous fluids (36 ml/h) and insulin (0.1 units/kg/h). He was intubated and artificially ventilated, without impact on EEG and CT-scan. Subsequently, adjuvant infusion of octreotide was applied (3.5 μg/kg/h), suppressing growth hormone (GH) and IGF-1 production and necessitating the insulin dose to be reduced to 0.05 - 0.025 units/kg/h. The brain oedema improved and the boy made a full recovery. Conclusion Co-therapy with octreotide was associated with a favourable outcome in the present patient with DKA and cerebral oedema. Whether this could be ascribed to the effects of octreotide on the insulin requirement or on the GH/IGF-axis remains to be elucidated.

Published
2010
Full Text
View/download PDF

35. A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation

Author

Bamborschke, Daniel, Pergande, Matthias, Becker, Kerstin, Koerber, Friederike, Doetsch, Joerg, Vierzig, Anne, Weber, Lutz T., Cirak, Sebahattin, Bamborschke, Daniel, Pergande, Matthias, Becker, Kerstin, Koerber, Friederike, Doetsch, Joerg, Vierzig, Anne, Weber, Lutz T., and Cirak, Sebahattin

Abstract

Introduction: Recently recessive mutations in sphingosine-l-phosphate lyase (SGPLI) have been published as a cause of syndromic congenital nephrotic syndrome with adrenal insufficiency. We have identified a case with fetal hydrops and brain malformations due to a mutation in SGPLI. Case report: We report a patient presenting with severe fetal hydrops, congenital nephrotic syndrome and adrenal calcifications. MRI imaging showed generalized cortical atrophy with simplified gyral pattern and hypoplastic temporal lobes as well as cerebellar hypoplasia and hyperintensity in the pons. The boy deceased at 6 weeks of age. Via whole exome sequencing, we identified a novel homozygous frameshift mutation c.1233delC (p.Phe4llLeufs*56) in SGPLI. Conclusion: In our patient, we describe a novel mutation in sphingosine-1-phosphate lyase (SGPLI) leading to severe brain malformation. Neurodevelopmental phenotypes have been reported earlier, but not described in detail. To this end, we present a review on all published SGPLI-mutations and genotype-phenotype correlations focusing on neurodevelopmental outcomes. We hypothesized on the severe neurological phenotypes, which might be due to disruption of neuronal autophagy. Mutations in SGPLI shall be considered in the differential diagnosis of fetal hydrops as well as congenital brain malformations and neuropathies. (C) 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Published
2018

36. Cardiac arrhythmia in an obese boy

Author

Ebner, K., Stahlhut, L., Mueller-Albrecht, M., Emmel, M., Doetsch, J., Vierzig, A., Heller, R., Eifinger, F., Ebner, K., Stahlhut, L., Mueller-Albrecht, M., Emmel, M., Doetsch, J., Vierzig, A., Heller, R., and Eifinger, F.

Abstract

A 3-year-old boy with known morbid obesity was transferred to the pediatric intensive care unit after cardiopulmonary resuscitation. Recurrent phases of hypocalcemia triggered reversible QTc prolongation resulting in ventricular tachycardia similar to torsade de pointes. Diagnostic workup with the findings of hypocalcemia, hyperphosphatemia, elevation of parathormone, symmetrical hyperdensities in the bifrontal regions and basal ganglia suspected of being calcifications in combination with the known morbid obesity suggest the diagnosis of pseudohypoparathyroidism type la (Albright's osteodystrophy), which was confirmed by molecular genetic findings. Therapy of end organ multihormone resistance is symptomatic.

Published
2018

37. Candidemia in the intensive care unit: analysis of direct treatment costs and clinical outcome in patients treated with echinocandins or fluconazole

Author

G Langebartels, Sebastian M. Heimann, A. Vierzig, H. Wisplinghoff, Matthias Kochanek, Jorg-Janne Vehreschild, Oliver A. Cornely, Dirk L. Stippel, H. Reuter, Harald Seifert, Jan Peter Glossmann, Maria J G T Vehreschild, Bernd Franke, M. Reiner, and S. A. Padosch

Subjects
Adult, Male, Microbiology (medical), Pediatrics, medicine.medical_specialty, Antifungal Agents, Adolescent, Echinocandin, Antifungal drug, Anidulafungin, law.invention, Echinocandins, Lipopeptides, Young Adult, chemistry.chemical_compound, Caspofungin, law, Humans, Medicine, Child, Fluconazole, Aged, Aged, 80 and over, business.industry, Micafungin, Candidemia, Infant, Health Care Costs, General Medicine, Middle Aged, Intensive care unit, Hospitalization, Intensive Care Units, Treatment Outcome, Infectious Diseases, chemistry, Child, Preschool, Cohort, Female, business, medicine.drug
Abstract

Direct treatment costs caused by candidemia in German intensive care unit (ICU) patients are currently unknown. We analyzed treatment costs and the impact of antifungal drug choice. Comprehensive data of patients who had at least one episode of candidemia while staying in the ICU between 01/2005 and 12/2010 were documented in a database using the technology of the Cologne Cohort of Neutropenic Patients (CoCoNut). A detailed analysis of all disease-associated treatment costs was performed. Patients treated with echinocandins (i.e., anidulafungin, caspofungin, micafungin) or fluconazole were analyzed separately and compared. Forty-one and 64 patients received echinocandins and fluconazole, respectively. The mean Acute Physiology and Chronic Health Evaluation (APACHE) IV score was 114 (95 % confidence interval [CI]: 106-122) vs. 95 (95 % CI: 90-101, p = 0.001). Twenty-three (56 %) and 33 (52 %, p = 0.448) patients survived hospitalization, while 17 (41 %) and 22 (34 %, p = 0.574) survived one year after diagnosis. In the echinocandin and fluconazole groups, the mean costs per patient of ICU treatment wereeuro20,338 (95 % CI:euro12,893-27,883) vs.euro11,932 (95 % CI:euro8,016-15,849, p = 0.110), and the total direct treatment costs per patient wereeuro37,995 (95 % CI:euro26,614-euro49,376) vs.euro22,305 (95 % CI:euro16,817-euro27,793, p = 0.012), resulting in daily costs per patient ofeuro1,158 (95 % CI:euro1,036-euro1,280) vs.euro927 (95 % CI:euro828-euro1,026, p = 0.001). Our health economic analysis shows the high treatment costs of patients with candidemia in the ICU. Sicker patients had a prolonged hospitalization and were more likely to receive echinocandins, leading to higher treatment costs. Outcomes were comparable to those achieved in less sick patients with fluconazole.

Published
2014
Full Text
View/download PDF

38. Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

Author

Raoul Heller, Karel de Groot, Andrew Green, Matthias Begemann, Deniz Kanber, Jasmin Beygo, Konrad Platzer, Miriam Elbracht, Anne Vierzig, Karin Buiting, Thomas Eggermann, and Gabriele Gillessen-Kaesbach

Subjects
Adult, Male, Bisulfite sequencing, Medizin, Biology, Article, Genomic Imprinting, Genetics, medicine, Humans, Imprinting (psychology), Genetics (clinical), Chromosomes, Human, Pair 14, MEG3, Infant, Methylation, DNA Methylation, medicine.disease, Uniparental disomy, Pedigree, Differentially methylated regions, CpG site, embryonic structures, CpG Islands, Female, RNA, Long Noncoding, Genomic imprinting, Gene Deletion
Abstract

The imprinted region on chromosome 14q32 harbors several maternally or paternally expressed genes as well as two DMRs (differentially methylated regions), the IG-DMR and the MEG3-DMR, which both act as imprinting control centers. Genetic aberrations affecting the imprinted gene cluster in 14q32 result in distinct phenotypes, known as maternal or paternal uniparental disomy 14 phenotypes (upd(14)mat, upd(14)pat). In both syndromes, three types of molecular alterations have been reported: uniparental disomy 14, deletions and epimutations. In contrast to uniparental disomy and epimutations, deletions affecting regulatory elements in 14q32 are associated with a high-recurrence risk. Based on two single deletion cases a functional hierarchy of the IG-DMR as a regulator for the methylation of the MEG3-DMR has been proposed. We have identified two novel deletions of maternal origin spanning the MEG3-DMR, but not the IG-DMR in patients with upd(14)pat syndrome, one de novo deletion of 165 kb and another deletion of 5.8 kb in two siblings. The 5.8 kb deletion was inherited from the phenotypically normal mother, who carries the deletion in a mosaic state on her paternal chromosome 14. The methylation at both DMRs was investigated by quantitative next generation bisulfite sequencing and revealed normal methylation patterns at the IG-DMR in all patients with the exception of certain CpG dinucleotides. Thus, we could confirm that deletions of the MEG3-DMR does not generally influence the methylation pattern of the IG-DMR, which strengthens the hypothesis of a hierarchical structure and distinct functional properties of the two DMRs.

Published
2014
Full Text
View/download PDF

41. Life-threatening infections in children in Europe (the EUCLIDS Project): a prospective cohort study

Author

Martinón-Torres, Federico, primary, Salas, Antonio, additional, Rivero-Calle, Irene, additional, Cebey-López, Miriam, additional, Pardo-Seco, Jacobo, additional, Herberg, Jethro A, additional, Boeddha, Navin P, additional, Klobassa, Daniela S, additional, Secka, Fatou, additional, Paulus, Stephane, additional, de Groot, Ronald, additional, Schlapbach, Luregn J, additional, Driessen, Gertjan J, additional, Anderson, Suzanne T, additional, Emonts, Marieke, additional, Zenz, Werner, additional, Carrol, Enitan D, additional, Van der Flier, Michiel, additional, Levin, Michael, additional, Coin, Lachlan, additional, Gormley, Stuart, additional, Hamilton, Shea, additional, Herberg, Jethro, additional, Hourmat, Bernardo, additional, Hoggart, Clive, additional, Kaforou, Myrsini, additional, Sancho-Shimizu, Vanessa, additional, Wright, Victoria, additional, Abdulla, Amina, additional, Agapow, Paul, additional, Bartlett, Maeve, additional, Bellos, Evangelos, additional, Eleftherohorinou, Hariklia, additional, Galassini, Rachel, additional, Inwald, David, additional, Mashbat, Meg, additional, Menikou, Stefanie, additional, Mustafa, Sobia, additional, Nadel, Simon, additional, Rahman, Rahmeen, additional, Thakker, Clare, additional, Bokhandi, Sumit, additional, Power, Sue, additional, Barham, Heather, additional, Pathan, Nazima, additional, Ridout, Jenna, additional, White, Deborah, additional, Thurston, Sarah, additional, Faust, Saul, additional, Patel, Sanjay, additional, McCorkell, Jenni, additional, Davies, Patrick, additional, Crate, Lindsey, additional, Navarra, Helen, additional, Carter, Stephanie, additional, Ramaiah, Raghu, additional, Patel, Rekha, additional, Tuffrey, Catherine, additional, Gribbin, Andrew, additional, McCready, Sharon, additional, Peters, Mark, additional, Hardy, Katie, additional, Standing, Fran, additional, O'Neill, Lauren, additional, Abelake, Eugenia, additional, Deep, Akash, additional, Nsirim, Eniola, additional, Pollard, Andrew, additional, Willis, Louise, additional, Young, Zoe, additional, Royad, C, additional, White, Sonia, additional, Fortune, Peter Marc, additional, Hudnott, Phil, additional, Martinón-Torres, Federico, additional, Salas Ellacuriaga, Antonio, additional, Álvez González, Fernando, additional, Barral-Arca, Ruth, additional, Curras-Tuala, María José, additional, García, Natalia, additional, García Vicente, Luisa, additional, Gómez-Carballa, Alberto, additional, Gómez Rial, Jose, additional, Grela Beiroa, Andrea, additional, Justicia Grande, Antonio, additional, Leboráns Iglesias, Pilar, additional, Martínez Santos, Alba Elena, additional, Martinón-Torres, Nazareth, additional, Martinón Sánchez, José María, additional, Morillo Gutiérrez, Beatriz, additional, Mosquera Pérez, Belén, additional, Obando Pacheco, Pablo, additional, Pischedda, Sara, additional, Rodríguez-Tenreiro, Carmen, additional, Redondo-Collazo, Lorenzo, additional, Serén Fernández, Sonia, additional, Porto Silva, María del Sol, additional, Vega, Ana, additional, Vilanova Trillo, Lucía, additional, Reyes, Susana Beatriz, additional, León León, María Cruz, additional, Navarro Mingorance, Álvaro, additional, Gabaldó Barrios, Xavier, additional, Oñate Vergara, Eider, additional, Concha Torre, Andrés, additional, Vivanco, Ana, additional, Fernández, Reyes, additional, Giménez Sánchez, Francisco, additional, Sánchez Forte, Miguel, additional, Rojo, Pablo, additional, Ruiz Contreras, Jesús, additional, Palacios, Alba, additional, Epalza Ibarrondo, Cristina, additional, Fernández Cooke, Elizabeth, additional, Navarro, Marisa, additional, Álvarez Álvarez, Cristina, additional, Lozano, María José, additional, Carreras, Eduardo, additional, Brió Sanagustín, Sonia, additional, Neth, Olaf, additional, Martínez Padilla, María del Carmen, additional, Prieto Tato, Luis Manuel, additional, Guillén, Sara, additional, Fernández Silveira, Laura, additional, Moreno, David, additional, van Furth, A. Marceline, additional, van der Flier, Michiel, additional, Boeddha, Navin Prekash, additional, Driessen, Gertjan JA, additional, Hazelzet, Jan A, additional, Kuijpers, Taco W, additional, Pajkrt, Dasja, additional, Sanders, Elisabeth AM, additional, van de Beek, Diederik, additional, van der Ende, Arie, additional, Philipsen, Ria LA, additional, Adeel, Abdul OA, additional, Breukels, Meike A, additional, Brinkman, Danielle MC, additional, de Korte, Carla CMM, additional, de Vries, Esther, additional, de Waal, Wouter J, additional, Dekkers, Roel, additional, Dings-Lammertink, Anouk, additional, Doedens, Rienus A, additional, Donker, Albertine E, additional, Dousma, Mieke, additional, Faber, Tina E, additional, Gerrits, G Peter JM, additional, Gerver, Jan AM, additional, Heidema, Jojanneke, additional, Homan-van der Veen, Jenneke, additional, Jacobs, Monique AM, additional, Jansen, Nicolaas JG, additional, Kawczynski, Pawel, additional, Klucovska, Kristine, additional, Kneyber, Martin CJ, additional, Koopman-Keemink, Yvonne, additional, Langenhorst, Veerle J, additional, Leusink, José, additional, Loza, Bettina F, additional, Merth, Istvan T, additional, Miedema, Carien J, additional, Neeleman, Chris, additional, Noordzij, Jeroen G, additional, Obihara, Charles C, additional, van Overbeek - van Gils, A Lidy T, additional, Poortman, Geriska H, additional, Potgieter, Steph T, additional, Potjewijd, Joke, additional, Rosias, Philippe PR, additional, Sprong, Tom, additional, ten Tussher, Gavin W, additional, Thio, Boony J, additional, Tramper-Stranders, Gerdien A, additional, van Deuren, Marcel, additional, van der Meer, Henny, additional, van Kuppevelt, Andre JM, additional, van Wermeskerken, Anne-Marie, additional, Verwijs, Wim A, additional, Wolfs, Tom FW, additional, Schlapbach, Luregn Jan, additional, Agyeman, Philipp, additional, Aebi, Christoph, additional, Berger, Christoph, additional, Giannoni, Eric, additional, Stocker, Martin, additional, Posfay-Barbe, Klara M, additional, Heininger, Ulrich, additional, Bernhard-Stirnemann, Sara, additional, Niederer-Loher, Anita, additional, Kahlert, Christian, additional, Hasters, Paul, additional, Relly, Christa, additional, Baer, Walter, additional, Carrol, Enitan, additional, Paulus, Stéphane, additional, Frederick, Hannah, additional, Jennings, Rebecca, additional, Johnston, Joanne, additional, Kenwright, Rhian, additional, Fink, Colin G, additional, Pinnock, Elli, additional, Agbeko, Rachel Sarah, additional, Bojang, Kalifa A, additional, Sarr, Isatou, additional, Kebbeh, Ngange, additional, Sey, Gibbi, additional, Saidykhan, Momodou, additional, Cole, Fatoumata, additional, Thomas, Gilleh, additional, Antonio, Martin, additional, Klobassa, Daniela Sabine, additional, Binder, Alexander, additional, Schweintzger, Nina Alexandra, additional, Sagmeister, Manfred, additional, Baumgart, Hinrich, additional, Baumgartner, Markus, additional, Behrends, Uta, additional, Biebl, Ariane, additional, Birnbacher, Robert, additional, Blanke, Jan-Gerd, additional, Boelke, Carsten, additional, Breuling, Kai, additional, Brunner, Jürgen, additional, Buller, Maria, additional, Dahlem, Peter, additional, Dietrich, Beate, additional, Eber, Ernst, additional, Elias, Johannes, additional, Emhofer, Josef, additional, Etschmaier, Rosa, additional, Farr, Sebastian, additional, Girtler, Ylenia, additional, Grigorow, Irina, additional, Heimann, Konrad, additional, Ihm, Ulrike, additional, Jaros, Zdenek, additional, Kalhoff, Hermann, additional, Kaulfersch, Wilhelm, additional, Kemen, Christoph, additional, Klocker, Nina, additional, Köster, Bernhard, additional, Kohlmaier, Benno, additional, Komini, Eleni, additional, Kramer, Lydia, additional, Neubert, Antje, additional, Ortner, Daniel, additional, Pescollderungg, Lydia, additional, Pfurtscheller, Klaus, additional, Reiter, Karl, additional, Ristic, Goran, additional, Rödl, Siegfried, additional, Sellner, Andrea, additional, Sonnleitner, Astrid, additional, Sperl, Matthias, additional, Stelzl, Wolfgang, additional, Till, Holger, additional, Trobisch, Andreas, additional, Vierzig, Anne, additional, Vogel, Ulrich, additional, Weingarten, Christina, additional, Welke, Stefanie, additional, Wimmer, Andreas, additional, Wintergerst, Uwe, additional, Wüller, Daniel, additional, Zaunschirm, Andrew, additional, Ziuraite, Ieva, additional, and Žukovskaja, Veslava, additional

Published
2018
Full Text
View/download PDF

42. Observations on the Effects of Inhaled Isoflurane in Long-term Sedation of Critically Ill Children Using a Modified AnaConDa©-System

Author

B. Roth, André Oberthuer, U Trieschmann, Christoph Hünseler, C Menzel, Anne Vierzig, Frank Eifinger, Katrin Mehler, and Angela Kribs

Subjects
Male, medicine.medical_specialty, Critical Illness, Sedation, Conscious Sedation, Intensive Care Units, Pediatric, Fentanyl, Anaconda, Risk Factors, medicine, Humans, Ketamine, Retrospective Studies, Isoflurane, Inhalation, biology, business.industry, Infant, biology.organism_classification, Long-Term Care, Clonidine, Surgery, Anesthesia, Nerve Degeneration, Pediatrics, Perinatology and Child Health, Midazolam, Female, Tracheotomy, medicine.symptom, Anesthesia, Inhalation, business, medicine.drug
Abstract

Long-term intravenous sedation may present problems due to dependence and side effects. Medical records of children who were administered isoflurane were reviewed. 15 patients (9 boys, 6 girls) with a mean age of 11.8 month (+2.4) were analysed.Analgesia and sedation was given in mean 9.7+1.1 days before commencing inhalation using a modified application device (AnaConDa©). Administration was given over a period of 7.2+1.4 days. Depth of sedation was monitored by using Comfort- and Hartwig-scores. Observations included continuous monitoring of heart-rate, pulse oxymetry, blood pressure and cerebral tissue oxygenation.Within 4 h post administration of isoflurane a satisfactory increase in the depth of sedation was seen and kept till extubation. 6/15 patients received tracheostomies during the observation period. None of the patients observed suffered life-critical events of the modified application of isoflurane proceeded without complications. Ketamine and clonidine infusion rates were significantly reduced (p

Published
2013
Full Text
View/download PDF

43. Multicenter study on the effectiveness of the pre-epiglottic baton plate for airway obstruction and feeding problems in Robin sequence

Author

Poets, Christian F., Maas, Christoph, Buchenau, Wolfgang, Arand, Joerg, Vierzig, Anne, Braumann, Bert, Mueller-Hagedorn, Silvia, Poets, Christian F., Maas, Christoph, Buchenau, Wolfgang, Arand, Joerg, Vierzig, Anne, Braumann, Bert, and Mueller-Hagedorn, Silvia

Abstract

Background: Treatment of Robin sequence is often either invasive or of unproven effectiveness. The pre-epiglottic baton plate (PEBP) is a well-studied alternative, yet is not widely applied internationally. We report on a prospective 3-center cohort study investigating this treatment. Based on an agreed protocol, parents of infants with Robin sequence referred to participating centers were offered enrollment, which involved taking a maxillary cast followed by endoscopy to fit the plate and sleep studies to monitor its effectiveness. Recordings were centrally analyzed by sleep specialists blinded to timing and center. Primary outcome was the mixed-obstructive apnea index, defined as the number of such apneas/h of sleep; secondary outcomes included the desaturation index to < 80% pulse oximeter saturation and weight gain. Results: Of 75 infants referred, 49 could be included; 1 center failed to perform appropriate sleep studies. Within a mean hospitalization of 3 weeks, the mixed-obstructive apnea index decreased (median; interquartile range) from 15.9 (6.3-31.5) to 2.3 (1.2-5.4); it decreased further to 0.7 (0.1-2.4) in the 32 infants who had a successful 3-month follow-up sleep study performed. The desaturation index normalized (from 0.38 (0-2.7) to 0.0 (0-0.1)). Mean standard deviation score for weight remained unchanged between admission and follow-up, while the proportion of tube-fed infants decreased from 74 to 14%. Conclusions: This prospective multi-center cohort study confirms retrospective audits on the effectiveness of PEBP treatment in improving upper airway obstruction and feeding problems, the main clinical problems of infants with Robin sequence. International collaboration is required to compare this with other treatment approaches.

Published
2017

44. Multicenter study on the effectiveness of the pre-epiglottic baton plate for airway obstruction and feeding problems in Robin sequence

Author

Christian F, Poets, Christoph, Maas, Wolfgang, Buchenau, Joerg, Arand, Anne, Vierzig, Bert, Braumann, and Silvia, Müller-Hagedorn

Subjects
Adult, Male, Sleep Apnea, Obstructive, Adolescent, Pierre Robin Syndrome, Research, Upper airway obstruction, Failure to thrive, Airway Obstruction, Hospitalization, Young Adult, Treatment Outcome, Humans, Female, Pierre-Robin sequence, Prospective Studies, Child
Abstract

Background Treatment of Robin sequence is often either invasive or of unproven effectiveness. The pre-epiglottic baton plate (PEBP) is a well-studied alternative, yet is not widely applied internationally. We report on a prospective 3-center cohort study investigating this treatment. Based on an agreed protocol, parents of infants with Robin sequence referred to participating centers were offered enrollment, which involved taking a maxillary cast followed by endoscopy to fit the plate and sleep studies to monitor its effectiveness. Recordings were centrally analyzed by sleep specialists blinded to timing and center. Primary outcome was the mixed-obstructive apnea index, defined as the number of such apneas/h of sleep; secondary outcomes included the desaturation index to

Published
2016

47. Primäre Ziliendyskinesie als Ursache neonataler Atemnot

Author

L. Lange, Christoph Hünseler, Anne Vierzig, B. Roth, and Angela Kribs

Subjects
medicine.medical_specialty, Pediatrics, Respiratory distress, business.industry, Cilium, medicine.medical_treatment, Atelectasis, medicine.disease, respiratory tract diseases, Surgery, Situs inversus, Pediatrics, Perinatology and Child Health, otorhinolaryngologic diseases, Breathing, Medicine, Respiratory epithelium, Continuous positive airway pressure, business, Primary ciliary dyskinesia
Abstract

Background Primary ciliary dyskinesia (PCD) is a hereditary disorder of structure and function of the cilia of respiratory epithelium of the upper and lower airways. Prevalence is estimated with 1:15 000 to 1:30 000 births. We present a newborn infant with respiratory distress caused by PCD. Patient On the first day of life, the male newborn developed dyspnoe and cyanosis, so that CPAP and short term ventilation was necessary. Varying atelectasis impressed on the chest radiographs and the diagnosis of PCD was made by nasal brush biopsies. Causative is a lack of the inner dynein arms of the cilia. The clinical features of newborns with the diagnoses of PCD are listed and compared with the own case. Conclusion PCD is a rare cause of neonatal respiratory distress and should be considered in term infants with unknown and prolonged course even if Situs inversus is lacking.

Published
2009
Full Text
View/download PDF

48. Das Smith-Lemli-Opitz Syndrom – Fallbericht, Diagnostik, therapeutische Optionen

Author

G. Rahimi, F Körber, M. Hoopmann, Anne Vierzig, B. Roth, M Vogel, R. Heller, M. Emmel, and A Oberthür

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pediatrics, business.industry, nutritional and metabolic diseases, Obstetrics and Gynecology, Gestational age, Disease, medicine.disease, Therapeutic approach, Endocrinology, Simvastatin, Smith–Lemli–Opitz syndrome, Internal medicine, Maternity and Midwifery, Pediatrics, Perinatology and Child Health, Medicine, Gestation, Syndactyly, Craniofacial, business, medicine.drug
Abstract

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal-recessive disease characterised by the combination of (foetal) growth retardation, mental retardation and a typical malformation pattern. In particular, the combination of cardiovascular defects, Y-shaped syndactyly of the 2 (nd) and 3 (rd) toes and a distinctive craniofacial appearance, often including a cleft palate, are characteristic of SLOS. The disease is caused by a defect in cholesterol synthesis resulting in a reduced or absent activity of the enzyme 7-dehydrocholesterol reductase (DHCR7). As a consequence, a lack of cholesterol and an increase of toxic cholesterol precursors are observed in the majority of patients. We report on a female patient who was born at 37 weeks of gestation and was both small and light for gestational age who displayed typical signs of SLOS. After the diagnosis had been confirmed, a therapeutic approach with oral substitution of cholesterol and the administration of simvastatin was initiated. In spite of this strategy, the patient died at the age of 12 weeks from the disease. Based on the case presented, we review and discuss current diagnostic and therapeutic options for patients with SLOS.

Published
2009
Full Text
View/download PDF

49. Determination of thiamin diphosphate in whole blood samples by high-performance liquid chromatography—A method suitable for pediatric diagnostics

Author

Carsten Müller, Robert Walter Körner, Bernhard Roth, and Anne Vierzig

Subjects
Adult, Male, Adolescent, Clinical Biochemistry, Sensitivity and Specificity, Biochemistry, High-performance liquid chromatography, Analytical Chemistry, Young Adult, chemistry.chemical_compound, Humans, Protein precipitation, Sample preparation, Derivatization, Chromatography, High Pressure Liquid, Aged, Detection limit, Chromatography, Chemistry, Cell Biology, General Medicine, Middle Aged, B vitamins, Potassium ferricyanide, Vitamin B Complex, Female, Thiamine Pyrophosphate, Quantitative analysis (chemistry)
Abstract

An improved and easy to use method for the determination of thiamin diphosphate (TDP) in 100 microl of whole blood was developed. The small sample volume makes it possible to assess the nutritional status of vitamin B(1) in infants and even in preterm infants. Sample preparation comprises the extraction of TDP from whole blood by hemolysis, protein precipitation with trichloroacetic acid, and subsequent centrifugation. Potassium ferricyanide is used for pre-column derivatization of TDP to its fluorescent thiochrome derivative. Chromatographic separation was carried out using a reversed-phase column and an isocratic elution which consisted of a phosphate buffer and acetonitrile. TDP was detected fluorimetrically and quantified by external standardization. Method validation showed a high precision, almost complete recovery, and a high sensitivity. The lower limit of detection and the lower limit of quantification were 0.2 ng/ml and 4 ng/ml, respectively. Linearity was demonstrated over the expected concentration range of 4-400 ng/ml. In conclusion, we present a convenient HPLC method for the determination of TDP which is precise, sensitive and suitable for pediatric diagnostics.

Published
2009
Full Text
View/download PDF

50. Adipöser Junge mit Herzrhythmusstörung

Author

Ebner, K., primary, Stahlhut, L., additional, Müller-Albrecht, M., additional, Emmel, M., additional, Dötsch, J., additional, Vierzig, A., additional, Heller, R., additional, and Eifinger, F., additional

Published
2017
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results