0000000000023867
AUTHOR
Eva Mildenberger
showing 32 related works from this author
Kardiovaskuläres Profilscore in Patienten mit nicht- immunologischem Hydrops fetalis und kardialen Anomalien
2019
Monozygote, weibliche Zwillingsfrühgeborene diskordant für das seltene, schwere Fehlbildungssyndrom einer fetalen Megazystis mit Kloakenfehlbildung n…
2016
Monozygote Zwillinge gelten gemeinhin als „identische Klone“. Es gibt jedoch eine zunehmende Anzahl an Fallberichten uber diskordante eineiige Zwillinge und Ursachen fur Diskordanz werden vermehrt untersucht. Wir berichten uber monozygote Zwillingsfruhgeborene, diskordant fur die seltene fetale Megazystis bei Kloakenfehlbildung. Durch Konzeption mittels intrazytoplasmatischer Spermieninjektion entstand nach Transfer von 2 Embryonen ein monochoriales, diamniales Zwillingspaar. Im ersten Trimenon wurde eine diskordante fetale Megazystis mit konsekutivem Oligohydramnion und Lungenhypoplasie bei unauffalligem Karyotyp diagnostiziert. Das betroffene Kind wurde bei 25+3 SSW geboren, palliativ beh…
Weaning Premature Infants from Nasal Continuous Positive Airway Pressure - Current Practice and Scientific Evidence.
2017
Abstract Objective In the past decade, a number of trials have been conducted to determine the optimal strategy of weaning premature infants from nasal continuous airway pressure (nCPAP). However, a paucity of information exists on how weaning is actually performed in clinical routine. Aim of this study was to investigate the current practice of weaning premature infants from nCPAP in Germany. Methods An online survey was performed in German tertiary care neonatal units. Results All 160 German tertiary care units were contacted. Replies were retrieved from 85/160 (53%) units, of which 83/160 (52%) completed the questionnaire. 66/83 (80%) respondents indicated to wean without the use of form…
743 Lysosomal Storage Disorders in Non-Immunological Hydrops Fetalis - More Common than Assumed?
2012
Background Although non immunological hydrops fetalis (NIHF) is a very rare disorder, the disturbance accounts for a disproportionate share (3%) of overall mortality in the perinatal period. Lysosomal storage disorders (LSD) are only exceptionally considered to be the cause of NIHF. The reported incidence is about 1%. On the other hand, in about 18% of all cases, NIHF is classified as idiopathic. Patients and methods We report four cases of transient NIHF due to LSD and reviewed the literature for LSD associated with NIHF. Results At present, 12 different LSD are described to be associated with NIHF. The majority of reported patients already had a family history of NIHF, which had not been …
Assessment of haemoglobin measurement by several methods - blood gas analyser, capillary and venous HemoCue® , non-invasive spectrophotometry and lab…
2018
A laboratory haematology analyser is the gold standard for measuring haemoglobin concentration but has disadvantages, especially in neonates. This study compared alternative blood-sparing and non-invasive methods of haemoglobin concentration measurement with the gold standard. Haemoglobin concentrations were measured using a laboratory haematology analyser (reference method), blood gas analyser, HemoCue® using venous and capillary blood samples and a newly developed non-invasive sensor for neonates < 3 kg. A total of 63 measurements were performed. Body weight (2190 (1820-2520 [967-4450]) g) and haemoglobin concentration (12.3 (10.6-15.2 [8.2-20.5]) g.dl-1 ) varied widely. Bias/limits of ag…
Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653–5655delTAT, causing harlequin ichthyosis
2013
Abstract Harlequin ichthyosis (HI) is a severe autosomal recessive developmental disorder of the skin that is frequently but not always fatal in the first few days of life. In HI, mutations in both ABCA12 gene alleles must have a severe impact on protein function and most mutations are truncating. The presence of at least one nontruncating mutation (predicting a residual protein function) usually causes a less severe congenital ichthyosis (lamellar ichthyosis or congenital ichthyosiform erythroderma). Here we report on a girl with severe HI diagnosed by prenatal ultrasound at 33 5/7 week gestation. Ultrasound findings included ectropion, eclabium, deformed nose, hands and feet, joint contra…
PO-0483 Prospective Observational Study Of Doxapram For The Treatment Of Apnea Of Prematurity
2014
Background and aims After the implementation of a local treatment protocol at our NICU, we aimed to systematically evaluate if intubation for apnea of prematurity was avoided by doxapram. We asked, if frequency and severity of apneas were affected and if side effects occurred. Methods We prospectively analysed all premature infants 2 and side effects an hour before, at the start of, and during 48 h after onset of treatment. Results 21 of 66 (31.8%) infants (mean gestational age 25.5 weeks, mean birth weight 705 g) were treated during 2½ years. All of them had been treated with caffeine and CPAP before doxapram was applied. In 13 of 67 (19%) therapy courses, infants were intubated because of…
Islet Autoantibodies in Offspring of Mothers with Gestational Diabetes at the Age of 4 to 14 Years
2011
Islet Autoantibodies in Offspring of Mothers with Gestational Diabetes at the Age of 4 to 14 Years
Evaluation of microbiological screening in a neonatal intensive care unit to optimize empiric antibiotic use.
2019
Expression of NO synthases and redox enzymes in umbilical arteries from newborns born small, appropriate, and large for gestational age.
2012
Modified expression of nitric oxide synthases (NOSs) and an imbalance between the pro-oxidative and the antioxidative system accompany endothelial dysfunction, the first stage of atherosclerosis. Humans born small (SGA) or large (LGA) for gestational age are at higher risk of developing atherosclerosis later in life than humans born appropriate for gestational age (AGA). We hypothesized that indicators of endothelial dysfunction could be detectable at birth. The purpose of this study was to find out whether the expression patterns of NO synthases (endothelial NOS (eNOS), inducible NOS (iNOS), and neuronal NOS (nNOS)), pro-oxidative enzymes (components of nicotinamide adenine dinucleotide ph…
Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C
2016
Objective Congenital sodium diarrhoea (CSD) refers to a form of secretory diarrhoea with intrauterine onset and high faecal losses of sodium without congenital malformations. The molecular basis for CSD remains unknown. We clinically characterised a cohort of infants with CSD and set out to identify disease-causing mutations by genome-wide genetic testing. Design We performed whole-exome sequencing and chromosomal microarray analyses in 4 unrelated patients, followed by confirmatory Sanger sequencing of the likely disease-causing mutations in patients and in their family members, followed by functional studies. Results We identified novel de novo missense mutations in GUCY2C, the gene encod…
Characteristics of neonatal herpes simplex virus infections in Germany: results of a 2-year prospective nationwide surveillance study.
2021
ObjectiveTo assess incidence and burden of neonatal herpes simplex virus (HSV) infections and to explore possible transmission routes.MethodsA 2-year prospective nationwide surveillance study performed in 2017 and 2018. All German paediatric departments (n=464 in 2017, n=441 in 2018) were contacted on a monthly basis to report potential cases of neonatal HSV infections. Infants with a postnatal age of ≤60 days and a positive HSV PCR or HSV culture from skin, mucous membrane, vesicles or conjunctival smear, blood or cerebrospinal fluid were included in the study.Results37 cases were analysed. 29 patients who exhibited no or only mild clinical symptoms were discharged home without organ damag…
Effect of Neonatal Outcome Estimates on Decision-Making Preferences of Mothers Facing Preterm Birth
2020
This randomized clinical trial examines the effect of neonatal outcomes on the preferences for expectant German mothers for life-sustaining treatments.
Low Frequency of Viral Respiratory Tract Infections During Family-Centered Neonatal Intensive Care: Results of a Prospective Surveillance Study
2020
Background: Viral respiratory tract infections (VRTI) may cause severe respiratory and sepsis-like symptoms in infants hospitalized in the neonatal intensive care unit (NICU). Little is known about the frequencies of VRTI in relation to visiting policies in the NICU. Objective: Aim of this study was to evaluate the frequency of symptomatic and asymptomatic VRTI in our family-centered NICU. Methods: This was a 12-month, prospective, observational study from February 2018 to January 2019. Infants hospitalized ≥72 h were eligible for the study. To determine the frequency of VRTI, multiplexed point-of-care testing (mPOCT) of symptomatic infants was combined with a weekly screening of all infant…
Adverse Events and Unsuccessful Intubation Attempts Are Frequent During Neonatal Nasotracheal Intubations.
2021
Background: Intubation of neonates is difficult and hazardous. Factors associated with procedure-related adverse events and unsuccessful intubation attempts are insufficiently evaluated, especially during neonatal nasotracheal intubations.Objective: Aim of this study was to determine the frequency of tracheal intubation–associated events (TIAEs) during neonatal nasotracheal intubations and to identify factors associated with TIAEs and unsuccessful intubation attempts in our neonatal unit.Methods: This was a prospective, single-site, observational study from May 2017 to November 2019, performed at a tertiary care neonatal intensive care unit in a German academic teaching hospital. All endotr…
Das Kagami-Ogata-Syndrom: Eine Rippenanomalie als pathognomonisches Korrelat für die klinische Diagnose eines (epi)genetischen Syndroms
2019
ZusammenfassungInnerhalb von 4 Jahren (2014–2017) haben wir 2 Neugeborene mit der genetisch gesicherten Diagnose eines Kagami-Ogata-Syndroms (OMIM #608149) betreut. Pränatal fielen bei beiden Föten ein Polyhydramnion und in einem Fall eine Hepatomegalie auf. Beide Patienten litten postnatal unter einer respiratorischen Insuffizienz und wiesen mit einer Muskelhypotonie, einem vorspringenden Philtrum, vollen Wangen sowie einer breiten Nasenwurzel die typischen phänotypischen Merkmale dieses Imprinting-Defekts auf. Wegweisend für die Diagnosestellung waren die kleiderbügelförmigen Rippen („coat-hanger ribs“) und der glockenförmige Thorax (bell-shaped thorax) im Röntgenbild. Das Kagami-Ogata-Sy…
Rechtsventrikuläre Hypertrophie bei einem reifen Neugeborenen
2020
Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - more common than assumed? Report of four cases with transient NIHF and a rev…
2012
Abstract Background Lysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites. The reported incidence is about 1%. The incidence of idiopathic NIHF is estimated to be about 18%. Patients and methods We report four cases with transient hydrops fetalis resulting from LSD and performed a literature review on LSD with NIHF and congenital ascites in combination. Results At present, 12 different LSDs are described to be associated with NIHF or congenital ascites. Most patients had a family history of NIHF, where the preceding sibling had not been examined. A diagnostic approach to the fetus with NIHF due to suspected LSD either in utero …
Key features and clinical variability of COG6-CDG
2015
The conserved oligomeric Golgi (COG) complex consists of eight subunits and plays a crucial role in Golgi trafficking and positioning of glycosylation enzymes. Mutations in all COG subunits, except subunit 3, have been detected in patients with congenital disorders of glycosylation (CDG) of variable severity. So far, 3 families with a total of 10 individuals with biallelic COG6 mutations have been described, showing a broad clinical spectrum. Here we present 7 additional patients with 4 novel COG6 mutations. In spite of clinical variability, we delineate the core features of COG6-CDG i.e. liver involvement (9/10), microcephaly (8/10), developmental disability (8/10), recurrent infections (7…
Ergebnisse des Hypothermienetzwerks des Universitätsklinikums Dresden von 2010–2017. Entwicklung der Hypothermietherapie bei Neugeborenen in Deutschl…
2020
Einleitung Die Hypothermiebehandlung (TH) verbessert bei Neugeborenen mit hypoxisch-ischamischer Enzephalopathie (HIE) das Outcome und sollte bei Hinweisen fur eine perinatale Asphyxie und Zeichen einer moderaten oder schweren HIE angewendet werden. Material/Methode Die Haufigkeit der HIE und der Anwendung der TH wurde aus den Daten der Neonatalerhebung und den Daten des 2010 etablierten Hypothermieregisters extrahiert. Letztere wurden daruber hinaus zur Analyse des kurzfristigen Outcomes herangezogen. Ergebnisse Zwischen 2010 und 2017 schlossen sich 106 der 213 (Stand Marz 2020) deutschen Perinatalzentren dem Register an. Die Ruckantwortquote lag zwischen 22 und 60%. Im Register wurden pro…
Detection of respiratory viral infections in neonates treated for suspicion of nosocomial bacterial sepsis: a feasibility study.
2013
There is a lack of knowledge concerning the frequency and significance of respiratory viral infections that occur in the neonatal intensive care unit. In the present study, all neonates with suspected nosocomial bacterial sepsis were screened for a panel of respiratory viruses. Respiratory viral infections were detected in 10% of these cases. This was comparable with the frequency of a blood-culture-proven sepsis.
Patterns of Safety Incidents in a Neonatal Intensive Care Unit
2021
Introduction: Safety incidents preceding manifest adverse events are barely evaluated in neonatal intensive care units (NICUs). This study aimed at identifying frequency and patterns of safety incidents in our NICU.Methods: A 6-month prospective clinical study was performed from May to October 2019 in a German 10-bed level III NICU. A voluntary, anonymous reporting system was introduced, and all neonatal team members were invited to complete paper-based questionnaires following each particular safety incident. Safety incidents were defined as safety-related events that were considered by the reporting team member as a “threat to the patient's well-being” which “should ideally not occur agai…
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome
2021
Background Galloway-Mowat syndrome (GAMOS) is characterized by neurodevelopmental defects and a progressive nephropathy, which typically manifests as steroid-resistant nephrotic syndrome. The prognosis of GAMOS is poor, and the majority of children progress to renal failure. The discovery of monogenic causes of GAMOS has uncovered molecular pathways involved in the pathogenesis of disease. Methods Homozygosity mapping, whole-exome sequencing, and linkage analysis were used to identify mutations in four families with a GAMOS-like phenotype, and high-throughput PCR technology was applied to 91 individuals with GAMOS and 816 individuals with isolated nephrotic syndrome. In vitro and in vivo st…
Skeletal abnormalities of the upper limbs--neonatal diagnosis of 49,XXXXY syndrome.
2012
A case of neonatal diagnosis of 49,XXXXY syndrome is presented. Clinical identification was prompted by a bilateral thickening of the radioulnar joints and X-ray imaging disclosing almost complete radioulnar synostosis. Conventional karyotyping was initiated and revealed a karyotype of 49,XXXXY. Previously reported neonatal symptoms such as low birth weight, muscular hypotonia, or genital malformations were absent in this case. Microsatellite analysis showed two different X chromosomes each present in two copies, supporting that the four X chromosomes had arisen from a nondisjunction in maternal meiosis I followed by a second nondisjunction involving both X chromosomes in meiosis II. Multid…
Ante-, peri- and postnatal factors associated with intraventricular hemorrhage in very premature infants.
2017
Intraventricular hemorrhage (IVH) is one of the most serious complications in preterm infants and is associated with neurological sequelae and mortality. Over the past few decades, the rate of IVH has decreased due to improved neonatal intensive care. However, up to 15-25% of very and extremely premature infants (32 and28weeks of pregnancy (WOP) respectively) still suffer from IVH.The aim of this study was to perform an updated, multicenter analysis to identify ante-, peri, and postnatal factors other than gestational age/birth weight associated with IVH of any grade in a large cohort of very and extremely premature infants.We performed a retrospective analysis in a prospectively conducted …
Viral Infections in Neonates with Suspected Late-Onset Bacterial Sepsis—A Prospective Cohort Study
2016
Objective The aim of our study was to evaluate the occurrence of viral infections in infants with suspected late-onset bacterial sepsis in a neonatal intensive care unit. Methods In a prospective study, infants with suspected late-onset bacterial sepsis underwent viral testing alongside routine blood culture sampling. Using a multiplex reverse transcription-polymerase chain reaction enzyme-linked immunosorbent assay, nasopharyngeal aspirates were analyzed for adenovirus, respiratory syncytial virus (RSV), influenza virus A and B, H1N1 virus, parainfluenza virus 1 to 4, metapneumovirus, coronavirus, and picornavirus. Stools were examined for adenovirus, rotavirus, norovirus, and enterovirus.…
Neonatal Respiratory Insufficiency Caused by an (Homozygous) ABCA3-Stop Mutation: a Systematic Evaluation of Therapeutic Options
2014
Background Autosomal recessive ABCA3 (ATP-binding cassette protein A3) gene mutations have been associated with neonatal respiratory distress and pediatric interstitial lung disease. The clinical course of the disease depends on the underlying mutations. Therefore, knowledge of course, symptoms and treatment of the disease is important. Patient and methods A term newborn suffered from progressive respiratory insufficiency, which led to death at the age of 4.8 months. The girl developed interstitial lung disease. Infections as well as structural and functional disorders of the lung were systematically excluded. A homozygous c.4681C > T (Arg 1561 Stop) mutation of the ABCA3 gene was identifie…
Standardized weaning of infants <32 weeks of gestation from continuous positive airway pressure – a feasibility study
2015
The practice of weaning premature infants from continuous positive airway pressure (CPAP) varies considerably and is usually performed without written standards. In this study, the feasibility of a standardized weaning approach was evaluated. In a quasi-experimental design, data from a prospective, post-intervention cohort (n=41) were compared to data from a pre-intervention cohort (n=36). Standardized weaning was feasible but no significant differences in short-term respiratory outcomes were observed. Weaning from CPAP was achieved at 32.1 ± 1.6 (post-intervention) versus 32.5 ± 2.3 weeks (pre-intervention) postmenstrual age. More rigorous, large-scale clinical trials are necessary before …
Chest Radiograph as Diagnostic Clue in a Floppy Infant
2016
Intermittent Dyspnea and Cyanosis in a Newborn Caused by a Hairy Polyp
2014
Professor emer. Dr. Hans Versmold zum 75. Geburtstag
2012
Is faster better? A randomised crossover study comparing algorithms for closed-loop automatic oxygen control
2019
ObjectiveClosed-loop automatic control (CLAC) of the fractional inspired oxygen (FiO2) improved oxygen administration to preterm infants on respiratory support. We investigated whether a revised CLAC algorithm (CLACfast, ≤2 FiO2 adjustments/min), compared with routine manual control (RMConly), increased the proportion of time with arterial haemoglobin oxygen saturation measured by pulse oximetry within prespecified target ranges (Target%) while not being inferior to the original algorithm (CLACslow: ≤0.3 FiO2 adjustments/min).DesignUnblinded randomised controlled crossover study comparing three modes of FiO2 control in random order for 8 hours each: RMC supported by CLACfast was compared wi…