TY  - JOUR
A1  - Fortmann, Ingmar
A1  - Dammann, Marie-Theres
A1  - Humberg, Alexander
A1  - Siller, Bastian
A1  - Stichtenoth, Guido
A1  - Engels, Geraldine
A1  - Marißen, Janina
A1  - Faust, Kirstin
A1  - Hanke, Kathrin
A1  - Goedicke-Fritz, Sybelle
A1  - Derouet, Christoph
A1  - Meyer, Sascha
A1  - Stutz, Regine
A1  - Kaiser, Elisabeth
A1  - Herting, Egbert
A1  - Göpel, Wolfgang
A1  - Härtel, Christoph
A1  - Zemlin, Michael
T1  - Five year follow up of extremely low gestational age infants after timely or delayed administration of routine vaccinations
JF  - Vaccines
N2  - This study is aimed at detecting the rate of untimely immunization in a large cohort of extremely low gestational age neonates (ELGANs) of the German Neonatal Network (GNN) and at addressing risk factors for delayed vaccination and associated long-term consequences. We performed an observational study of the GNN between 1st January 2010 and 31st December 2019. The immunization status for the hexavalent and pneumococcal immunization was evaluated in n = 8401 preterm infants <29 weeks of gestation. Univariate analysis and logistic/linear regression models were used to identify risk factors for vaccination delay and outcomes at a 5-year follow-up. In our cohort n = 824 (9.8%) ELGANs did not receive a timely first immunization with the hexavalent and pneumococcal vaccine. Risk factors for delayed vaccination were SGA status (18.1% vs. 13.5%; OR 1.3; 95% CI: 1.1–1.7), impaired growth and surrogates for complicated clinical courses (i.e., need for inotropes, necrotizing enterocolitis). At 5 years of age, timely immunized children had a lower risk of bronchitis (episodes within last year: 27.3% vs. 37.7%; OR 0.60, 95% CI: 0.42–0.86) but spirometry measures were unaffected. In conclusion, a significant proportion of ELGANs are untimely immunized, specifically those with increased vulnerability, even though they might particularly benefit from the immune-promoting effects of a timely vaccination.
KW  - immunization
KW  - prematurity
KW  - trained immunity
KW  - long-term outcome
Y1  - 2021
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-239592
SN  - 2076-393X
VL  - 9
IS  - 5
ER  - 
TY  - JOUR
A1  - Eurich, Benjamin
A1  - Nitsche, Catharina
A1  - Lau, Margot
A1  - Hanker, Britta
A1  - Spiegler, Juliane
A1  - Stichtenoth, Guido
T1  - Progressive respiratory insufficiency in a teenager with diaphragmatic hypomotility due to a novel combination of gliomedin gene variants
JF  - Children
N2  - Lethal congenital contracture syndrome 11 (LCCS11) is a form of arthrogryposis multiplex congenita (AMC) which is associated with mutations in the gliomedin gene (GLDN) and has been known to be severely life-shortening, mainly due to respiratory insufficiency. Patients with this condition have been predominantly treated by pediatricians as they usually do not survive beyond childhood. In this case report, we present a young adult who developed severe progressive respiratory insufficiency as a teenager due to diaphragmatic hypomotility and was diagnosed with LCCS11 following the discovery of compound heterozygous pathogenic variants in GLDN. This case demonstrates the importance of screening for neuromuscular diseases in well-child visits and follow-ups of patients at risk for gross and fine motor function developmental delay. It also underscores the significance of including LCCS11 and other axonopathies in the differential diagnosis of juvenile onset of respiratory insufficiency, highlights that patients with this condition may present to adult practitioners and questions whether the nomenclature of this condition with various phenotypes should be reconsidered due to the stigmatizing term ‘lethal’.
KW  - GLDN variant
KW  - gliomedin
KW  - juvenile progressive respiratory insufficiency
KW  - diaphragmatic hypomotility
KW  - scoliosis
KW  - arthrogryposis
KW  - LCCS11
KW  - axonopathy
KW  - FADS
Y1  - 2022
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-275199
SN  - 2227-9067
VL  - 9
IS  - 6
ER  -