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6. Does Breastmilk Influence the Development of Bronchopulmonary Dysplasia?

Author

Bendiks, Meike, Berghäuser, Martin A., Böckenholt, Kai, Bohnhorst, Bettina, Böttger, Ralf, Brune, Thomas, Dawczynski, Kristin, Dördelmann, Michael, Ehlers, Silke, Eichhorn, Joachim G., Felderhoff-Müser, Ursula, Franz, Axel, Gebauer, Corinna, Gerleve, Hubert, Göpel, Wolfgang, Gortner, Ludwig, Haase, Roland, Heitmann, Friedhelm, Hentschel, Roland, Hepping, Nico, Hillebrand, Georg, Höhn, Thomas, Hörnig-Franz, Isabelle, Hubert, Mechthild, Jenke, Andreas, Jensen, Rainer, Kannt, Olaf, Körner, Hans T., Kribs, Angela, Küster, Helmut, Linnemann, Knud, Möller, Jens, Müller, Andreas, Müller, Dirk, Olbertz, Dirk M., Orlikowsky, Thorsten, Reese, Jochen, Roll, Claudia, Rossi, Rainer, Rüdiger, Mario, Schaible, Thomas, Schiffmann, Jan-Holger, Schmidkte, Susanne, Seeliger, Stephan, Segerer, Hugo, Siegel, Jens, Teig, Norbert, Urlichs, Florian, Wense, Axel von der, Vochem, Matthias, Weller, Ursula, Wieg, Christian, Wintgens, Jürgen, Spiegler, Juliane, Preuß, Michael, and Herting, Egbert

Published
2016
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7. IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation

Author

Gottschalk, Ilona, primary, Kölsch, Uwe, additional, Wagner, Dimitrios L., additional, Kath, Jonas, additional, Martini, Stefania, additional, Krüger, Renate, additional, Puel, Anne, additional, Casanova, Jean-Laurent, additional, Jezela-Stanek, Aleksandra, additional, Rossi, Rainer, additional, Chehadeh, Salima El, additional, Van Esch, Hilde, additional, and von Bernuth, Horst, additional

Published
2022
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8. Corrigendum: Specifically increased rate of infections in children post measles in a high resource setting

Author

Bühl, Daniel, primary, Staudacher, Olga, additional, Santibanez, Sabine, additional, Rossi, Rainer, additional, Girschick, Hermann, additional, Stephan, Volker, additional, Schmidt, Beatrix, additional, Hundsdoerfer, Patrick, additional, von Moers, Arpad, additional, Lange, Michael, additional, Barker, Michael, additional, Mall, Marcus A., additional, Heininger, Ulrich, additional, Matysiak-Klose, Dorothea, additional, Mankertz, Annette, additional, and von Bernuth, Horst, additional

Published
2022
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9. Surgical necrotizing enterocolitis but not spontaneous intestinal perforation is associated with adverse neurological outcome at school age

Author

Humberg, Alexander, Spiegler, Juliane, Fortmann, Mats Ingmar, Zemlin, Michael, Marissen, Janina, Swoboda, Isabelle, Rausch, Tanja K., Herting, Egbert, Göpel, Wolfgang, Härtel, Christoph, Wieg, Christian, Kribs, Angela, von der Wense, Axel, Weller, Ursula, Höhn, Thomas, Olbertz, Dirk M., Felderhoff-Müser, Ursula, Rossi, Rainer, Teig, Norbert, Heitmann, Friedhelm, Schmidtke, Susanne, Bohnhorst, Bettina, Vochem, Matthias, Michel, Holger, Möller, Jens, Eichhorn, Joachim G., Wintgens, Jürgen, Böttger, Ralf, Hubert, Mechthild, Dördelmann, Michael, Hillebrand, Georg, Roll, Claudia, Jensen, Reinhard, Rüdiger, Mario, Sandkötter, Julia, Schäfer, Stefan, Schaible, Thomas, Franz, Axel, Aydin, Malik, Ehlers, Silke, Werner, Claudius, Orlikowsky, Thorsten, Gerleve, Hubert, Schneider, Katja, Böckenholt, Kai, Linnemann, Knud, Müller, Dirk, Gebauer, Corinna, Guthmann, Florian, Reese, Jochen, Haase, Roland, Seeliger, Stephan, Küster, Helmut, Hentschel, Roland, Körner, Thorsten, Brune, Thomas, Müller, Andreas, Frank, Thomas, Berghäuser, Martin Andree, Dawczynski, Kristin, Wieg, Christian, Kribs, Angela, von der Wense, Axel, Weller, Ursula, Höhn, Thomas, Olbertz, Dirk M., Felderhoff-Müser, Ursula, Rossi, Rainer, Teig, Norbert, Heitmann, Friedhelm, Schmidtke, Susanne, Bohnhorst, Bettina, Vochem, Matthias, Michel, Holger, Möller, Jens, Eichhorn, Joachim G., Wintgens, Jürgen, Böttger, Ralf, Hubert, Mechthild, Dördelmann, Michael, Hillebrand, Georg, Roll, Claudia, Jensen, Reinhard, Rüdiger, Mario, Sandkötter, Julia, Schäfer, Stefan, Schaible, Thomas, Franz, Axel, Aydin, Malik, Ehlers, Silke, Werner, Claudius, Orlikowsky, Thorsten, Gerleve, Hubert, Schneider, Katja, Böckenholt, Kai, Linnemann, Knud, Müller, Dirk, Gebauer, Corinna, Guthmann, Florian, Reese, Jochen, Haase, Roland, Seeliger, Stephan, Küster, Helmut, Hentschel, Roland, Körner, Thorsten, Brune, Thomas, Müller, Andreas, Frank, Thomas, Berghäuser, Martin Andree, and Dawczynski, Kristin

Subjects
Quality of life, Male, Pediatrics, medicine.medical_specialty, Birth weight, Developmental Disabilities, Medizin, lcsh:Medicine, Logistic regression, Article, 03 medical and health sciences, 0302 clinical medicine, Cognition, Enterocolitis, Necrotizing, 030225 pediatrics, Neonatal brain damage, Spontaneous Intestinal Perforation, medicine, Humans, Infant, Very Low Birth Weight, Child, lcsh:Science, Digestive System Surgical Procedures, Multidisciplinary, Intelligence quotient, business.industry, Confounding, lcsh:R, Infant, Newborn, medicine.disease, digestive system diseases, Infant necrotizing enterocolitis, Risk factors, Intestinal Perforation, Relative risk, Necrotizing enterocolitis, Etiology, Female, lcsh:Q, business, 030217 neurology & neurosurgery
Abstract

Scientific reports 10, 2373 (2020). doi:10.1038/s41598-020-58761-6, Published by Macmillan Publishers Limited, part of Springer Nature, [London]

Published
2020

10. Evidence of neural crest cell origin of a DICER1 mutant CNS sarcoma in a child with DICER1 syndrome and NRAS‐mutant neurocutaneous melanosis

Author

Schweizer, Leonille, primary, Hartmann, Wolfgang, additional, Koch, Arend, additional, Nunninger, Maximilian, additional, Thomale, Ulrich‐Wilhelm, additional, Pennacchietti, Valentina, additional, Tietze, Anna, additional, Horn, Denise, additional, Pajtler, Kristian W., additional, Hirsch, Steffen, additional, Wieland, Ilse, additional, Deubzer, Hedwig, additional, Rossi, Rainer, additional, Driever, Pablo Hernáiz, additional, von Hoff, Katja, additional, and von Zezschwitz, Barbara, additional

Published
2022
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11. Specifically Increased Rate of Infections in Children Post Measles in a High Resource Setting

Author

Bühl, Daniel, primary, Staudacher, Olga, additional, Santibanez, Sabine, additional, Rossi, Rainer, additional, Girschick, Hermann, additional, Stephan, Volker, additional, Schmidt, Beatrix, additional, Hundsdoerfer, Patrick, additional, von Moers, Arpad, additional, Lange, Michael, additional, Barker, Michael, additional, Mall, Marcus A., additional, Heininger, Ulrich, additional, Matysiak-Klose, Dorothea, additional, Mankertz, Annette, additional, and von Bernuth, Horst, additional

Published
2022
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12. Neurodevelopmental outcomes of extremely low birthweight infants randomised to different PCO2 targets: the PHELBI follow-up study

Author

Thome, Ulrich H, Genzel-Boroviczeny, Orsolya, Bohnhorst, Bettina, Schmid, Manuel, Fuchs, Hans, Rohde, Oliver, Avenarius, Stefan, Topf, Hans-Georg, Zimmermann, Andrea, Faas, Dirk, Timme, Katharina, Kleinlein, Barbara, Buxmann, Horst, Schenk, Wilfried, Segerer, Hugo, Teig, Norbert, Bläser, Annett, Hentschel, Roland, Heckmann, Matthias, Schlösser, Rolf, Peters, Jochen, Rossi, Rainer, Rascher, Wolfgang, Böttger, Ralf, Seidenberg, Jürgen, Hansen, Gesine, Zernickel, Maria, Bode, Harald, Dreyhaupt, Jens, Muche, Rainer, and Hummler, Helmut D

Published
2017
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15. Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

Author

Bauer, Michael, Kölsch, Uwe, Krüger, Renate, Unterwalder, Nadine, Hameister, Karin, Kaiser, Fabian Marc, Vignoli, Aglaia, Rossi, Rainer, Botella, Maria Pilar, Budisteanu, Magdalena, Rosello, Monica, Orellana, Carmen, Tejada, Maria Isabel, Papuc, Sorina Mihaela, Patat, Oliver, Julia, Sophie, Touraine, Renaud, Gomes, Thusari, Wenner, Kirsten, Xu, Xiu, Afenjar, Alexandra, Toutain, Annick, Philip, Nicole, Jezela-Stanek, Aleksandra, Gortner, Ludwig, Martinez, Francisco, Echenne, Bernard, Wahn, Volker, Meisel, Christian, Wieczorek, Dagmar, El-Chehadeh, Salima, Van Esch, Hilde, and von Bernuth, Horst

Published
2015
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19. Empfehlungen für die strukturellen Voraussetzungen der perinatologischen Versorgung in Deutschland (Entwicklungsstufe S2k, AWMF-Leitlinien-Register Nr. 087–001, März 2021)

Author

Rossi, Rainer, additional, Bauer, Nicola H., additional, Becke-Jakob, Karin, additional, Grab, Dieter, additional, Herting, Egbert, additional, Mitschdörfer, Barbara, additional, Olbertz, Dirk M., additional, Rösner, Bianka, additional, Schlembach, Dietmar, additional, Tillig, Bernd, additional, Trotter, Andreas, additional, and Kehl, Sven, additional

Published
2021
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21. Does Breastmilk Influence the Development of Bronchopulmonary Dysplasia?

Author

Spiegler, Juliane, Preu, Michael, Gebauer, Corinna, Bendiks, Meike, Herting, Egbert, Göpel, Wolfgang, Berghäuser, Martin A., Böckenholt, Kai, Bohnhorst, Bettina, Böttger, Ralf, Brune, Thomas, Dawczynski, Kristin, Dördelmann, Michael, Ehlers, Silke, Eichhorn, Joachim G., Felderhoff-Müser, Ursula, Franz, Axel, Gerleve, Hubert, Göpel, Wolfgang, Gortner, Ludwig, Haase, Roland, Heitmann, Friedhelm, Hentschel, Roland, Hepping, Nico, Hillebrand, Georg, Höhn, Thomas, Hörnig-Franz, Isabelle, Hubert, Mechthild, Jenke, Andreas, Jensen, Rainer, Kannt, Olaf, Körner, Hans T., Kribs, Angela, Küster, Helmut, Linnemann, Knud, Möller, Jens, Müller, Andreas, Müller, Dirk, Olbertz, Dirk M., Orlikowsky, Thorsten, Reese, Jochen, Roll, Claudia, Rossi, Rainer, Rüdiger, Mario, Schaible, Thomas, Schiffmann, Jan-Holger, Schmidkte, Susanne, Seeliger, Stephan, Segerer, Hugo, Siegel, Jens, Teig, Norbert, Urlichs, Florian, von der Wense, Axel, Vochem, Matthias, Weller, Ursula, Wieg, Christian, and Wintgens, Jürgen

Published
2016
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22. Effects of Liberal vs Restrictive Transfusion Thresholds on Survival and Neurocognitive Outcomes in Extremely Low-Birth-Weight Infants: The ETTNO Randomized Clinical Trial

Author

Franz, Axel R., Engel, Corinna, Bassler, Dirk, Rüdiger, Mario, Thome, Ulrich H., Maier, Rolf F., Krägeloh-Mann, Ingeborg, Kron, Martina, Essers, Jochen, Bührer, Christoph, Rellensmann, Georg, Rossi, Rainer, Bittrich, Hans-Jörg, Roll, Claudia, Höhn, Thomas, Ehrhardt, Harald, Avenarius, Stefan, Körner, Hans Thorsten, Stein, Anja, Buxmann, Horst, Vochem, Matthias, Poets, Christian F., ETTNO Investigators, and University of Zurich

Subjects
Male, Pediatrics, medicine.medical_specialty, Blood transfusion, medicine.medical_treatment, Birth weight, Vision Disorders, Medizin, 610 Medicine & health, 2700 General Medicine, Hematocrit, Sensitivity and Specificity, 01 natural sciences, 03 medical and health sciences, 0302 clinical medicine, Enterocolitis, Necrotizing, Interquartile range, Intensive Care Units, Neonatal, Intensive care, Outcome Assessment, Health Care, medicine, Humans, Retinopathy of Prematurity, 030212 general & internal medicine, 0101 mathematics, Hearing Disorders, Bronchopulmonary Dysplasia, medicine.diagnostic_test, business.industry, Cerebral Palsy, 010102 general mathematics, Infant, Newborn, Infant, Correction, Gestational age, General Medicine, medicine.disease, 10027 Clinic for Neonatology, Low birth weight, Bronchopulmonary dysplasia, Infant, Extremely Low Birth Weight, Female, medicine.symptom, Cognition Disorders, Erythrocyte Transfusion, business
Abstract

Importance Red blood cell transfusions are commonly administered to infants weighing less than 1000 g at birth. Evidence-based transfusion thresholds have not been established. Previous studies have suggested higher rates of cognitive impairment with restrictive transfusion thresholds. Objective To compare the effect of liberal vs restrictive red blood cell transfusion strategies on death or disability. Design, Setting, and Participants Randomized clinical trial conducted in 36 level III/IV neonatal intensive care units in Europe among 1013 infants with birth weights of 400 g to 999 g at less than 72 hours after birth; enrollment took place between July 14, 2011, and November 14, 2014, and follow-up was completed by January 15, 2018. Interventions Infants were randomly assigned to liberal (n = 492) or restrictive (n = 521) red blood cell transfusion thresholds based on infants’ postnatal age and current health state. Main Outcome and Measures The primary outcome, measured at 24 months of corrected age, was death or disability, defined as any of cognitive deficit, cerebral palsy, or severe visual or hearing impairment. Secondary outcome measures included individual components of the primary outcome, complications of prematurity, and growth. Results Among 1013 patients randomized (median gestational age at birth, 26.3 [interquartile range {IQR}, 24.9-27.6] weeks; 509 [50.2%] females), 928 (91.6%) completed the trial. Among infants in the liberal vs restrictive transfusion thresholds groups, respectively, incidence of any transfusion was 400/492 (81.3%) vs 315/521 (60.5%); median volume transfused was 40 mL (IQR, 16-73 mL) vs 19 mL (IQR, 0-46 mL); and weekly mean hematocrit was 3 percentage points higher with liberal thresholds. Among infants in the liberal vs restrictive thresholds groups, the primary outcome occurred in 200/450 (44.4%) vs 205/478 (42.9%), respectively, for a difference of 1.6% (95% CI, −4.8% to 7.9%;P = .72). Death by 24 months occurred in 38/460 (8.3%) vs 44/491 (9.0%), for a difference of −0.7% (95% CI, −4.3% to 2.9%;P = .70), cognitive deficit was observed in 154/410 (37.6%) vs 148/430 (34.4%), for a difference of 3.2% (95% CI, −3.3% to 9.6%;P = .47), and cerebral palsy occurred in 18/419 (4.3%) vs 25/443 (5.6%), for a difference of −1.3% (95% CI, −4.2% to 1.5%;P = .37), in the liberal vs the restrictive thresholds groups, respectively. In the liberal vs restrictive thresholds groups, necrotizing enterocolitis requiring surgical intervention occurred in 20/492 (4.1%) vs 28/518 (5.4%); bronchopulmonary dysplasia occurred in 130/458 (28.4%) vs 126/485 (26.0%); and treatment for retinopathy of prematurity was required in 41/472 (8.7%) vs 38/492 (7.7%). Growth at follow-up was also not significantly different between groups. Conclusions and Relevance Among infants with birth weights of less than 1000 g, a strategy of liberal blood transfusions compared with restrictive transfusions did not reduce the likelihood of death or disability at 24 months of corrected age. Trial Registration ClinicalTrials.gov Identifier:NCT01393496

Published
2020

23. Active perinatal care of preterm infants in the German Neonatal Network

Author

Humberg, Alexander, Haertel, Christoph, Rausch, Tanja K., Stichtenoth, Guido, Jung, Philipp, Wieg, Christian, Kribs, Angela, von der Wense, Axel, Weller, Ursula, Hoehn, Thomas, Olbertz, Dirk M., Felderhoff-Mueser, Ursula, Rossi, Rainer, Teig, Norbert, Heitmann, Friedhelm, Schmidtke, Susanne, Bohnhorst, Bettina, Vochem, Matthias, Segerer, Hugo, Moeller, Jens, Eichhorn, Joachim G., Wintgens, Juergen, Boettger, Ralf, Hubert, Mechthild, Doerdelmann, Michael, Hillebrand, Georg, Roll, Claudia, Jensen, Reinhard, Zemlin, Michael, Moegel, Michael, Werner, Claudius, Schaefer, Stefan, Schaible, Thomas, Franz, Axel, Heldmann, Michael, Ehlers, Silke, Kannt, Olaf, Orlikowsky, Thorsten, Gerleve, Hubert, Schneider, Katja, Haase, Roland, Boeckenholt, Kai, Linnemann, Knud, Herting, Egbert, Goepel, Wolfgang, Humberg, Alexander, Haertel, Christoph, Rausch, Tanja K., Stichtenoth, Guido, Jung, Philipp, Wieg, Christian, Kribs, Angela, von der Wense, Axel, Weller, Ursula, Hoehn, Thomas, Olbertz, Dirk M., Felderhoff-Mueser, Ursula, Rossi, Rainer, Teig, Norbert, Heitmann, Friedhelm, Schmidtke, Susanne, Bohnhorst, Bettina, Vochem, Matthias, Segerer, Hugo, Moeller, Jens, Eichhorn, Joachim G., Wintgens, Juergen, Boettger, Ralf, Hubert, Mechthild, Doerdelmann, Michael, Hillebrand, Georg, Roll, Claudia, Jensen, Reinhard, Zemlin, Michael, Moegel, Michael, Werner, Claudius, Schaefer, Stefan, Schaible, Thomas, Franz, Axel, Heldmann, Michael, Ehlers, Silke, Kannt, Olaf, Orlikowsky, Thorsten, Gerleve, Hubert, Schneider, Katja, Haase, Roland, Boeckenholt, Kai, Linnemann, Knud, Herting, Egbert, and Goepel, Wolfgang

Abstract

Objective To determine if survival rates of preterm infants receiving active perinatal care improve over time. Design The German Neonatal Network is a cohort study of preterm infants with birth weight <1500 g. All eligible infants receiving active perinatal care are registered. We analysed data of patients discharged between 2011 and 2016. Setting 43 German level III neonatal intensive care units (NICUs). Patients 8222 preterm infants with a gestational age between 22/0 and 28/6 weeks who received active perinatal care. Interventions Participating NICUs were grouped according to their specific survival rate from 2011 to 2013 to high (percentile >P75), intermediate (P25-P75) and low (

Published
2020

24. Kidney Cysts and Cystic Nephropathies in Children - A Consensus Guideline by 10 German Medical Societies

Author

Gimpel, Charlotte, Bergmann, Carsten, Brinkert, Florian, Cetiner, Metin, Gembruch, Ulrich, Haffner, Dieter, Kemper, Markus, Koenig, Jens, Liebau, Max, Maier, Rolf Felix, Oh, Jun, Pape, Lars, Riechardt, Silke, Rolle, Udo, Rossi, Rainer, Stegmann, Joachim, Vester, Udo, von Kaisenberg, Constantin, Weber, Stefanie, Schaefer, Franz, Gimpel, Charlotte, Bergmann, Carsten, Brinkert, Florian, Cetiner, Metin, Gembruch, Ulrich, Haffner, Dieter, Kemper, Markus, Koenig, Jens, Liebau, Max, Maier, Rolf Felix, Oh, Jun, Pape, Lars, Riechardt, Silke, Rolle, Udo, Rossi, Rainer, Stegmann, Joachim, Vester, Udo, von Kaisenberg, Constantin, Weber, Stefanie, and Schaefer, Franz

Abstract

Zusammenfassung Die Leitlinie wurde im Konsens aller relevanten deutschen Fachgesellschaften zusammen mit Patientenvertretern erstellt. Standard der pra- und postnatalen Bildgebung von Nierenzysten ist die Sonografie, die auch im Abdomen und inneren Genitale extrarenale Manifestationen ausschlie ss en soll. Die MRT hat einzelne Indikationen. Bei Verdacht auf zystische Nierenerkrankungen ist eine kindernephrologische Vorstellung indiziert. Die pranatale Betreuung muss auf sehr unterschiedliche Schweregrade zugeschnitten werden. Bei renalem Oligohydramnion wird eine Entbindung in einem Perinatalzentrum der hochsten Stufe empfohlen. Neugeborenen sollte eine Nierenersatztherapie nicht allein aufgrund des Alters vorenthalten werden. Bei unilateraler multizystischer Nierendysplasie ist keine funktionelle Bildgebung oder Nephrektomie notwendig, aber (wie auch bei uni- oder bilateraler Nierenhypo-/dysplasie mit Zysten) eine langfristige nephrologische uberwachung. Bei der ARPKD (autosomal rezessive polyzystische Nierenerkrankung), Nephronophthise, Bardet-Biedl-Syndrom und HNF1B-Mutationen mussen extrarenale Manifestationen beachtet werden; eine genetische Testung ist hier sinnvoll. Kinder mit tuberoser Sklerose, Tumorpradispositionen (z.B. von Hippel Lindau Syndrom) oder hohem Risiko fur erworbene Nierenzysten sollten regelma ss ige Nierensonografien erhalten. Auch asymptomatische Kinder von Eltern mit ADPKD (aut. dominanter polyzystischer Nierenerkrankung) sollten regelma ss ig auf Hypertonie und Proteinurie untersucht werden. Eine prasymptomatische sonografische oder genetische Diagnostik dieser Minderjahrigen sollte nur nach ausfuhrlicher Aufklarung erwogen werden. Einfache (isolierte) Zysten sind bei Kindern sehr selten und eine ADPKD eines Elternteils sollte ausgeschlossen sein. Komplexe Nierenzysten bedurfen weiterer Abklarung. Abstract This consensus-based guideline was developed by all relevant German pediatric medical societies. Ultrasound is the standard imaging m

Published
2020

25. Effects of liberal vs restrictive transfusion thresholds on survival and neurocognitive outcomes in extremely low-birth-weight infants:The ETTNO randomized clinical trial

Author

Franz, Axel R., Engel, Corinna, Bassler, Dirk, Rüdiger, Mario, Thome, Ulrich H., Maier, Rolf F., Krägeloh-Mann, Ingeborg, Kron, Martina, Essers, Jochen, Bührer, Christoph, Rellensmann, Georg, Rossi, Rainer, Bittrich, Hans Jörg, Roll, Claudia, Höhn, Thomas, Ehrhardt, Harald, Avenarius, Stefan, Körner, Hans Thorsten, Stein, Anja, Buxmann, Horst, Vochem, Matthias, Poets, Christian F., Greisen, Gorm, Franz, Axel R., Engel, Corinna, Bassler, Dirk, Rüdiger, Mario, Thome, Ulrich H., Maier, Rolf F., Krägeloh-Mann, Ingeborg, Kron, Martina, Essers, Jochen, Bührer, Christoph, Rellensmann, Georg, Rossi, Rainer, Bittrich, Hans Jörg, Roll, Claudia, Höhn, Thomas, Ehrhardt, Harald, Avenarius, Stefan, Körner, Hans Thorsten, Stein, Anja, Buxmann, Horst, Vochem, Matthias, Poets, Christian F., and Greisen, Gorm

Abstract

Importance: Red blood cell transfusions are commonly administered to infants weighing less than 1000 g at birth. Evidence-based transfusion thresholds have not been established. Previous studies have suggested higher rates of cognitive impairment with restrictive transfusion thresholds. Objective: To compare the effect of liberal vs restrictive red blood cell transfusion strategies on death or disability. Design, Setting, and Participants: Randomized clinical trial conducted in 36 level III/IV neonatal intensive care units in Europe among 1013 infants with birth weights of 400 g to 999 g at less than 72 hours after birth; enrollment took place between July 14, 2011, and November 14, 2014, and follow-up was completed by January 15, 2018. Interventions: Infants were randomly assigned to liberal (n = 492) or restrictive (n = 521) red blood cell transfusion thresholds based on infants' postnatal age and current health state. Main Outcome and Measures: The primary outcome, measured at 24 months of corrected age, was death or disability, defined as any of cognitive deficit, cerebral palsy, or severe visual or hearing impairment. Secondary outcome measures included individual components of the primary outcome, complications of prematurity, and growth. Results: Among 1013 patients randomized (median gestational age at birth, 26.3 [interquartile range {IQR}, 24.9-27.6] weeks; 509 [50.2%] females), 928 (91.6%) completed the trial. Among infants in the liberal vs restrictive transfusion thresholds groups, respectively, incidence of any transfusion was 400/492 (81.3%) vs 315/521 (60.5%); median volume transfused was 40 mL (IQR, 16-73 mL) vs 19 mL (IQR, 0-46 mL); and weekly mean hematocrit was 3 percentage points higher with liberal thresholds. Among infants in the liberal vs restrictive thresholds groups, the primary outcome occurred in 200/450 (44.4%) vs 205/478 (42.9%), respectively, for a difference of 1.6% (95% CI, -4.8% to 7.9%; P =.72). Death by 24 months occurred in 3

Published
2020

27. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

Author

Coenem, Marieke J.H., Newbold, Robert F., Antonicka, Hana, Trijbels, Frans J.M.F., Ugalde, Cristina, Heuvel, Lambert P. van den, Sasarman, Florin, Shoubridge, Eric A., Smeitink, Jan A.M., Rossi, Rainer, and Heister, J.M.F. Angelien

Subjects
Mitochondrial diseases -- Research, Phosphorylation -- Research
Abstract

The two siblings with a severe defect in mitochondrial translation, reduced levels of oxidative phosphorylation complexes containing mitochondrial DNA (mtDNA) encoded subunits, and progressive hepatoencephalopathy are investigated. The defective gene to a region on chromosome 3q containing elongation factor G1, which encodes a mitochondrial translation factor is outlined.

Published
2004

31. Nierenzysten und zystische Nierenerkrankungen bei Kindern (AWMF S2k-Leitlinie)

Author

Gimpel, Charlotte, additional, Bergmann, Carsten, additional, Brinkert, Florian, additional, Cetiner, Metin, additional, Gembruch, Ulrich, additional, Haffner, Dieter, additional, Kemper, Markus, additional, König, Jens, additional, Liebau, Max, additional, Maier, Rolf Felix, additional, Oh, Jun, additional, Pape, Lars, additional, Riechardt, Silke, additional, Rolle, Udo, additional, Rossi, Rainer, additional, Stegmann, Joachim, additional, Vester, Udo, additional, Kaisenberg, Constantin von, additional, Weber, Stefanie, additional, and Schaefer, Franz, additional

Published
2020
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40. Rate and risk factors of hypoglycemia in large-for-gestational-age newborn infants of nondiabetic mothers

Author

Schaefer-Graf, Ute M., Rossi, Rainer, Buhrer, Christoph, Siebert, Gerda, Kjos, Siri L., Dudenhausen, Joachim W., and Vetter, Klaus

Subjects
Hypoglycemia -- Risk factors, Fetal macrosomia -- Physiological aspects, Health
Abstract

All pregnant women with a baby that is larger than normal for its gestational age should have a glucose tolerance test during a prenatal exam. If the result is abnormal, the baby has a risk of developing low blood sugar shortly after birth, according to a study of 887 babies. This occurs because excessive fetal growth is often caused by high insulin levels, which in turn is caused by hyperglycemia in the mother.

Published
2002

41. Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families.

Author

Civan, Hasret Ayyıldız, Leitner, Coleen, Östreicher, Iris, Schneider, Anna-Maria, Cremer, Malte, Mayr, Johannes A., Rossi, Rainer, Müller, Thomas, and Janecke, Andreas R.

Subjects
INTESTINAL diseases, FAMILY health, DIARRHEA in children, ENTEROCYTES, WEIGHT gain
Abstract

Tufting enteropathy (TE) is caused by recessive EPCAM mutations, and is characterized by intractable diarrhea of congenital onset and disorganization of enterocytes. TE generally requires parenteral nutrition (PN) during childhood or intestinal bowel transplantation. We report three unrelated families with six children with TE.We highlight the high rate of disease-related mortality. We observe adequate weight gain with PN, but low to normal and stunted body length, supporting the recent notion that a short stature might be intrinsic to TE. The diagnosis of TE in the index patients from each family was delayed for months to years, even when clinical data, duodenal biopsies, or exome sequencing data were obtained early on. We identified three novel pathogenic EPCAM variants: a deletion of exon 1 that removes the ATG initiation codon, a missense variant c.326A > G (p.Gln109Arg), and nonsense mutation c.429G > A (p.Trp143*) in a compound heterozygous state with the Mediterranean splice site variant c.556-14A > G (Tyr186Phefs*6). Homozygosity for p.Gln109Arg was associated with absent EPCAM staining, and compound heterozygosity for p.Trp143*/Tyr186Phefs*6 was associated with reduced EPCAM staining in duodenal biopsies; such observations might contribute to a genotype–phenotype correlation in larger cohorts of TE patients. This study extends the clinical and molecular spectrum of TE. [ABSTRACT FROM AUTHOR]

Published
2021
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44. Influence of PCO2 control on clinical and neurodevelopmental outcomes of extremely low birth weight infants

Author

Thome, Ulrich H., Dreyhaupt, Jens, Genzel-Boroviczeny, Orsolya, Bohnhorst, Bettina, Schmid, Manuel, Fuchs, Hans, Rohde, Oliver, Avenarius, Stefan, Topf, Hans-Georg, Zimmermann, Andrea, Faas, Dirk, Timme, Katharina, Kleinlein, Barbara, Buxmann, Horst, Schenk, Wilfried, Segerer, Hugo, Teig, Norbert, Ackermann, Benjamin, Hentschel, Roland, Heckmann, Matthias, Schlösser, Rolf, Peters, Jochen, Rossi, Rainer, Rascher, Wolfgang, Böttger, Ralf, Seidenberg, Jürgen, Hansen, Gesine, Bode, Harald, Zernickel, Maria, Muche, Rainer, Hummler, Helmut D., University of Zurich, and Thome, Ulrich H

Subjects
Male, Gestational Age, 610 Medicine & health, Neuropsychological Tests, Hypercapnia, 1309 Developmental Biology, Child Development, Medizinische Fakultät, Enterocolitis, Necrotizing, Predictive Value of Tests, Germany, Birth Weight, Humans, ddc:610, 2735 Pediatrics, Perinatology and Child Health, Bronchopulmonary Dysplasia, Cerebral Hemorrhage, Randomized Controlled Trials as Topic, Infant, Newborn, Infant, Carbon Dioxide, 10027 Clinic for Neonatology, Respiration, Artificial, Logistic Models, Infant, Extremely Low Birth Weight, Infant, Extremely Premature, Female
Abstract

Background: Levels or fluctuations in the partial pressure of CO2 (PCO2) may affect outcomes for extremely low birth weight infants. Objectives: In an exploratory analysis of a randomized trial, we hypothesized that the PCO2 values achieved could be related to significant outcomes. Methods: On each treatment day, infants were divided into 4 groups: relative hypocapnia, normocapnia, hypercapnia, or fluctuating PCO2. Ultimate assignment to a group for the purpose of this analysis was made according to the group in which an infant spent the most days. Statistical analyses were performed with analysis of variance (ANOVA), the Kruskal-Wallis test, the χ2 test, and the Fisher exact test as well as by multiple logistic regression. Results: Of the 359 infants, 57 were classified as hypocapnic, 230 as normocapnic, 70 as hypercapnic, and 2 as fluctuating PCO2. Hypercapnic infants had a higher average product of mean airway pressure and fraction of inspired oxygen (MAP × FiO2). For this group, mortality was higher, as was the likelihood of having moderate/severe bronchopulmonary dysplasia (BPD), necrotizing enterocolitis (NEC), and poorer neurodevelopment. Multiple logistic regression analyses showed an increased risk for BPD or death associated with birth weight (p < 0.001) and MAP × FiO2 (p < 0.01). The incidence of adverse neurodevelopment was associated with birth weight (p < 0.001) and intraventricular hemorrhage (IVH; p < 0.01). Conclusions: Birth weight and respiratory morbidity, as measured by MAP × FiO2, were the most predictive of death or BPD and NEC, whereas poor neurodevelopmental outcome was associated with low birth weight and IVH. Univariate models also identified PCO2. Thus, hypercapnia seems to reflect greater disease severity, a likely contributor to differences in outcomes.

Published
2018

46. Active perinatal care of preterm infants in the German Neonatal Network

Author

Humberg, Alexander, primary, Härtel, Christoph, additional, Rausch, Tanja K., additional, Stichtenoth, Guido, additional, Jung, Philipp, additional, Wieg, Christian, additional, Kribs, Angela, additional, von der Wense, Axel, additional, Weller, Ursula, additional, Höhn, Thomas, additional, Olbertz, Dirk M., additional, Felderhoff-Müser, Ursula, additional, Rossi, Rainer, additional, Teig, Norbert, additional, Heitmann, Friedhelm, additional, Schmidtke, Susanne, additional, Bohnhorst, Bettina, additional, Vochem, Matthias, additional, Segerer, Hugo, additional, Möller, Jens, additional, Eichhorn, Joachim G, additional, Wintgens, Jürgen, additional, Böttger, Ralf, additional, Hubert, Mechthild, additional, Dördelmann, Michael, additional, Hillebrand, Georg, additional, Roll, Claudia, additional, Jensen, Reinhard, additional, Zemlin, Michael, additional, Mögel, Michael, additional, Werner, Claudius, additional, Schäfer, Stefan, additional, Schaible, Thomas, additional, Franz, Axel, additional, Heldmann, Michael, additional, Ehlers, Silke, additional, Kannt, Olaf, additional, Orlikowsky, Thorsten, additional, Gerleve, Hubert, additional, Schneider, Katja, additional, Haase, Roland, additional, Böckenholt, Kai, additional, Linnemann, Knud, additional, Herting, Egbert, additional, and Göpel, Wolfgang, additional

Published
2019
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