TY  - JOUR
A1  - El-Helou, Sabine M.
A1  - Biegner, Anika-Kerstin
A1  - Bode, Sebastian
A1  - Ehl, Stephan R.
A1  - Heeg, Maximilian
A1  - Maccari, Maria E.
A1  - Ritterbusch, Henrike
A1  - Speckmann, Carsten
A1  - Rusch, Stephan
A1  - Scheible, Raphael
A1  - Warnatz, Klaus
A1  - Atschekzei, Faranaz
A1  - Beider, Renata
A1  - Ernst, Diana
A1  - Gerschmann, Stev
A1  - Jablonka, Alexandra
A1  - Mielke, Gudrun
A1  - Schmidt, Reinhold E.
A1  - Schürmann, Gesine
A1  - Sogkas, Georgios
A1  - Baumann, Ulrich H.
A1  - Klemann, Christian
A1  - Viemann, Dorothee
A1  - Bernuth, Horst von
A1  - Krüger, Renate
A1  - Hanitsch, Leif G.
A1  - Scheibenbogen, Carmen M.
A1  - Wittke, Kirsten
A1  - Albert, Michael H.
A1  - Eichinger, Anna
A1  - Hauck, Fabian
A1  - Klein, Christoph
A1  - Rack-Hoch, Anita
A1  - Sollinger, Franz M.
A1  - Avila, Anne
A1  - Borte, Michael
A1  - Borte, Stephan
A1  - Fasshauer, Maria
A1  - Hauenherm, Anja
A1  - Kellner, Nils
A1  - Müller, Anna H.
A1  - Ülzen, Anett
A1  - Bader, Peter
A1  - Bakhtiar, Shahrzad
A1  - Lee, Jae-Yun
A1  - Heß, Ursula
A1  - Schubert, Ralf
A1  - Wölke, Sandra
A1  - Zielen, Stefan
A1  - Ghosh, Sujal
A1  - Laws, Hans-Juergen
A1  - Neubert, Jennifer
A1  - Oommen, Prasad T.
A1  - Hönig, Manfred
A1  - Schulz, Ansgar
A1  - Steinmann, Sandra
A1  - Klaus, Schwarz
A1  - Dückers, Gregor
A1  - Lamers, Beate
A1  - Langemeyer, Vanessa
A1  - Niehues, Tim
A1  - Shai, Sonu
A1  - Graf, Dagmar
A1  - Müglich, Carmen
A1  - Schmalzing, Marc T.
A1  - Schwaneck, Eva C.
A1  - Tony, Hans-Peter
A1  - Dirks, Johannes
A1  - Haase, Gabriele
A1  - Liese, Johannes G.
A1  - Morbach, Henner
A1  - Foell, Dirk
A1  - Hellige, Antje
A1  - Wittkowski, Helmut
A1  - Masjosthusmann, Katja
A1  - Mohr, Michael
A1  - Geberzahn, Linda
A1  - Hedrich, Christian M.
A1  - Müller, Christiane
A1  - Rösen-Wolff, Angela
A1  - Roesler, Joachim
A1  - Zimmermann, Antje
A1  - Behrends, Uta
A1  - Rieber, Nikolaus
A1  - Schauer, Uwe
A1  - Handgretinger, Rupert
A1  - Holzer, Ursula
A1  - Henes, Jörg
A1  - Kanz, Lothar
A1  - Boesecke, Christoph
A1  - Rockstroh, Jürgen K.
A1  - Schwarze-Zander, Carolynne
A1  - Wasmuth, Jan-Christian
A1  - Dilloo, Dagmar
A1  - Hülsmann, Brigitte
A1  - Schönberger, Stefan
A1  - Schreiber, Stefan
A1  - Zeuner, Rainald
A1  - Ankermann, Tobias
A1  - Bismarck, Philipp von
A1  - Huppertz, Hans-Iko
A1  - Kaiser-Labusch, Petra
A1  - Greil, Johann
A1  - Jakoby, Donate
A1  - Kulozik, Andreas E.
A1  - Metzler, Markus
A1  - Naumann-Bartsch, Nora
A1  - Sobik, Bettina
A1  - Graf, Norbert
A1  - Heine, Sabine
A1  - Kobbe, Robin
A1  - Lehmberg, Kai
A1  - Müller, Ingo
A1  - Herrmann, Friedrich
A1  - Horneff, Gerd
A1  - Klein, Ariane
A1  - Peitz, Joachim
A1  - Schmidt, Nadine
A1  - Bielack, Stefan
A1  - Groß-Wieltsch, Ute
A1  - Classen, Carl F.
A1  - Klasen, Jessica
A1  - Deutz, Peter
A1  - Kamitz, Dirk
A1  - Lassy, Lisa
A1  - Tenbrock, Klaus
A1  - Wagner, Norbert
A1  - Bernbeck, Benedikt
A1  - Brummel, Bastian
A1  - Lara-Villacanas, Eusebia
A1  - Münstermann, Esther
A1  - Schneider, Dominik T.
A1  - Tietsch, Nadine
A1  - Westkemper, Marco
A1  - Weiß, Michael
A1  - Kramm, Christof
A1  - Kühnle, Ingrid
A1  - Kullmann, Silke
A1  - Girschick, Hermann
A1  - Specker, Christof
A1  - Vinnemeier-Laubenthal, Elisabeth
A1  - Haenicke, Henriette
A1  - Schulz, Claudia
A1  - Schweigerer, Lothar
A1  - Müller, Thomas G.
A1  - Stiefel, Martina
A1  - Belohradsky, Bernd H.
A1  - Soetedjo, Veronika
A1  - Kindle, Gerhard
A1  - Grimbacher, Bodo
T1  - The German national registry of primary immunodeficiencies (2012-2017)
JF  - Frontiers in Immunology
N2  - Introduction: The German PID-NET registry was founded in 2009, serving as the first national registry of patients with primary immunodeficiencies (PID) in Germany. It is part of the European Society for Immunodeficiencies (ESID) registry. The primary purpose of the registry is to gather data on the epidemiology, diagnostic delay, diagnosis, and treatment of PIDs. 

Methods: Clinical and laboratory data was collected from 2,453 patients from 36 German PID centres in an online registry. Data was analysed with the software Stata® and Excel. 

Results: The minimum prevalence of PID in Germany is 2.72 per 100,000 inhabitants. Among patients aged 1-25, there was a clear predominance of males. The median age of living patients ranged between 7 and 40 years, depending on the respective PID. Predominantly antibody disorders were the most prevalent group with 57% of all 2,453 PID patients (including 728 CVID patients). A gene defect was identified in 36% of patients. Familial cases were observed in 21% of patients. The age of onset for presenting symptoms ranged from birth to late adulthood (range 0-88 years). Presenting symptoms comprised infections (74%) and immune dysregulation (22%). Ninety-three patients were diagnosed without prior clinical symptoms. Regarding the general and clinical diagnostic delay, no PID had undergone a slight decrease within the last decade. However, both, SCID and hyper IgE-syndrome showed a substantial improvement in shortening the time between onset of symptoms and genetic diagnosis. Regarding treatment, 49% of all patients received immunoglobulin G (IgG) substitution (70%-subcutaneous; 29%-intravenous; 1%-unknown). Three-hundred patients underwent at least one hematopoietic stem cell transplantation (HSCT). Five patients had gene therapy. 

Conclusion: The German PID-NET registry is a precious tool for physicians, researchers, the pharmaceutical industry, politicians, and ultimately the patients, for whom the outcomes will eventually lead to a more timely diagnosis and better treatment.
KW  - registry for primary immunodeficiency
KW  - primary immunodeficiency (PID)
KW  - German PID-NET registry
KW  - PID prevalence
KW  - European Society for Immunodeficiencies (ESID)
KW  - IgG substitution therapy
KW  - CVID
Y1  - 2019
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-226629
VL  - 10
ER  - 
TY  - THES
A1  - Weiß, Sandra Elisabeth
T1  - Erstmalige Sauerstoff-basierte MR-Lungenfunktionsanalyse im Schulkindesalter – lassen sich Veränderungen der Ventilation bei ehemals frühgeborenen Kindern nachweisen?
T1  - First oxygen-enhanced functional MRI of the lung in school aged children -  
can changes in the ventilation of premature infants be proven?
N2  - Oxygen-enhanced functional low-field MRI of the lung in formerly very low birth weight infants with and without bronchopulmonary dysplasia (BPD)


Clemens Wirth1, Sandra Weiß1, Daniel Stäb1, Wolfgang Thomas2, Henning Neubauer1, Helge Hebestreit2, Herbert Köstler1, Dietbert Hahn1, Meinrad Beer1
1 Institute of Radiology, 2 Department of Pediatrics, University of Wuerzburg, Germany

Purpose: 
To assess functional lung abnormalities in formerly very low birth weight infants (VLBW) with and without BPD compared with children born at term without lung pathology in an oxygen-enhanced open low-field MRI.

Materials and methods: 
40 children aged 7–12 years were included in this study. 10 children had BPD, 15 were VLBW without BPD (non-BPD) and 15 formerly term infants served as
controls (CON). Sagittal T1-weighted single inversion multi-gradientecho sequences were acquired for both lungs at an open low-field MRI (Magnetom Open 0.2 Tesla, Siemens Medical Solutions, Erlangen, Germany). Acquisition was performed in 2 cycles: whilst breathing ambient air, then 100% oxygen via breathing mask. The mean relative change of the T1 relaxation time (ΔT1) between the two cycles was calculated after pixelwise subtraction of the parameter maps. ΔT1 of the different groups was compared statistically.

Results: 
ΔT1 of the different groups was calculated as follows:
CON 10.7 +/− 2.3%; Non-BPD 10.8 +/− 3.0%; BPD 9.2 +/− 3.1%. ΔT1 was significantly lower in the BPD group compared to both other groups (Mann–Whitney-U; p<0.05). There was no significant change of ΔT1 between the Non-BPD and the control group (p=0.93).
Subanalysis of the lobes showed inhomogenieties of  ΔT1 in the BPD group. 

Conclusion: 
Functional oxygen-enhanced MRI shows significant differences of ΔT1 in patients with BPD compared to children without BPD, reflecting probable long term functional sequelae of disturbed pulmonary vascular and alveolar development of the disease.
N2  - Die T1-Relaxationszeiten der gesunden Kontrollgruppe (Reifgeborene) lag durchschnittlich bei 662 ± 55 ms bei Raumluft und 591 ± 48 ms bei reinem Sauerstoff, die relativen Differenzen bei 10,7 ± 2,3 %. Dies deckt sich mit in der Literatur angegebenen Werten. Die relative Differenz gibt Aufschluss über den Sauerstofftransfer im Blut: je mehr Sauerstoff gelöst im Blut vorliegt, desto niedriger wird der T1-Wert und desto höher die absolute Differenz. Bei der Gruppe der Frühgeborenen mit BPD (Bronchopulmonale Dysplasie) zeigte sich eine geringere relative Differenz (Mittelwert = 9,2 +/- 3,1%) im Vergleich zu dem Mittelwert der Frühgeborenen ohne BPD (10,8 +/- 3,0%) sowie der Reifgeborenen (10,7 +/-2,3%), was auf einen geringeren Sauerstofftransfer in der Lunge schließen lässt. Bei statistischer Auswertung der einzelnen Schichten zeigte sich lediglich in der medialen linken Schicht ein signifikanter Unterschied der relativen Differenz der T1-Werte. Die Differenz war in der Gruppe der Frühgeborenen mit BPD signifikant niedriger als in der Gruppe der Frühgeborenen ohne BPD bzw. der Kontrollgruppe. Bei den ausgewerteten T1-Karten konnten keine lokalen Auffälligkeiten festgestellt werden. Auch morphologisch ergaben sich keinerlei Auffälligkeiten. Es scheint ein globales Problem im Sauerstofftransfer vorzuliegen.
 
Die Ergebnisse legen nahe, dass bei Kindern, die nach Geburt an einer schweren Form der BPD erkrankt sind, bis zumindest ins Schulkindesalter ein persistierend gestörter Sauerstofftransfer im Lungenparenchym gegeben ist. Diese funktionelle Einschränkung betrifft die gesamte Lunge, die höheren Abweichungen der Messergebnisse in einzelnen Lungenabschnitten bei den ehemaligen Frühgeborenen mit BPD legen eine höhere regionale Diversität nahe. Bei Frühgeborenen ohne chronische Lungenerkrankung sind in MRT-Messungen keine Unterschiede zu Reifgeborenen nachzuweisen. Es ist also anzunehmen, dass nicht allein durch die Frühgeburtlichkeit und das geringe Geburtsgewicht eine obstruktive Einschränkung in der Lungenfunktion als Langzeitfolge im Kindesalter weiter fort besteht, sondern der Faktor der BPD zusätzlich zu einem verminderten Gastransfer in der Lunge führt, welcher am ehesten durch eine verminderte Alveolarisierung und Vaskularisation in der Lunge bedingt ist.
KW  - MRT
KW  - BPD
KW  - Lungenfunktionsdiagnostik
Y1  - 2017
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-143730
ER  -