Juliane Spiegler

Universität zu Lübeck, Lübeck, Schleswig-Holstein, Germany

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Publications (18)32.4 Total impact

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    ABSTRACT: Nicotine and alcohol consumption have been associated with premature delivery and adverse neonatal outcome. We wanted to analyze the influence of self-reported nicotine and alcohol consumption on outcome of VLBW infants.In an ongoing multicenter study 2 475 parents of former very low birth weight (VLBW) infants born between January 2009 and December 2011 answered questionnaires about maternal smoking habits and alcohol consumption during pregnancy. 2 463 (99.5%) completed questions on alcohol consumption and 2 462 (99.5%) on smoking habits. These infants were stratified to reported maternal smoking and alcohol consumption during pregnancy. We compared the reasons for premature delivery, neonatal outcome and parental reports on bronchitis during the first year of life, as well as growth and development at age 2 years to pregnancy exposure.In nicotine exposed infants intrauterine growth restriction (31 vs. 21%, p<0.01), a birth weight below the 10th percentile (26 vs. 17%, p<0.01) and placenta abruption (9.2 vs. 5.8%, p<0.05) was seen more often. Premature rupture of membranes (24 vs. 30%, p<0.05) or HELLP syndrome (6 vs. 11%, p<0.01) was less frequent. A birth weight below the 3rd percentile was seen more frequently in mothers with reported alcohol consumption (13 vs. 6%, p<0.05). We noted an increased rate of BPD and ROP if mothers reported smoking during pregnancy (p<0.05). Growth parameters and scores on Bayley Sscales of infant development at age 2 years did not differ.Smoking during pregnancy results in a high rate of growth restricted VLBW infants. Prenatal exposition to nicotine seems to increase postnatal complications such as BPD und ROP.
    Zeitschrift für Geburtshilfe und Neonatologie 12/2013; 217(6):215-219. · 0.56 Impact Factor
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    ABSTRACT: PURPOSE: Very premature delivery is a major cause of infant morbidity and mortality. Obesity, diabetes and pregnancy hypertension are known risk factors for pregnancy complications. The study aimed to scrutinize differences of pregnancy complications in a cohort of very premature deliveries compared to a national group. METHODS: In a multicenter study performed between January 2009 and December 2010 including 1,577 very low birth weight (VLBW) infants, we compared parental reported pregnancy problems of VLBW infants with a national cohort (KIGGS). We compared reported pregnancy complications to reasons for premature delivery and neonatal outcome within the group of VLBW infants. RESULTS: While parents of the national cohort reported pregnancy-induced hypertension in 8 %, parents of VLBW infants reported this complication more frequently (27 %). Mothers of the national cohort were significantly younger (1 year), suffered less from obesity, anaemia, diabetes. Regression analysis showed that hypertension (OR = 5.11) and advanced maternal age (OR = 1.03) increased the risk for premature birth. Women with hypertension were likely to experience a clinically indicated premature delivery, had more VLBW infants with a moderate growth restriction, but less multiples and their infants had less intraventricular haemorrhages grade 3 or 4. Otherwise, neonatal outcome was correlated with gestational age but not with the pregnancy complications diabetes, hypertension or obesity. CONCLUSION: Premature birth seems to be correlated to gestational hypertension and associated problems in about ¼ of VLBW infants. Further studies should focus on preventing and treating gestational hypertension to avoid premature delivery and associated neonatal morbidity.
    Archives of Gynecology 02/2013; · 1.28 Impact Factor
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    ABSTRACT: The FTO gene, located on chromosome 16q12.2, and the MAF gene, located on chromosome 16q22-23, were identified as genes harboring common variants with an impact on obesity predisposition. We studied the association of common variants with birth weight, gain of body weight, body mass index (BMI), Ponderal index and relevant neonatal outcomes in a large German cohort of infants with a birth weight below 1500 grams. The single nucleotide polymorphisms rs9939609 (FTO gene) and rs1424233 (MAF gene) were genotyped using allelic discrimination assays in a prospective multicenter cohort study conducted in 15 neonatal intensive care units in Germany from September 2003 until January 2008. DNA samples were extracted from buccal swabs according to standard protocols. 1946 infants were successfully genotyped at FTO and 2149 infants at MAF. Allele frequencies were not significantly different from other European cohorts. The polymorphisms were in Hardy-Weinberg equilibrium. The polymorphisms did not show associations with birth weight, BMI and Ponderal Index at discharge, and weight gain, neither testing for a dominant, additive nor for a recessive model. Since an association of the polymorphisms with weight gain has been demonstrated in multiple populations, the lack of association in a population of preterm infants with regular tube feeding after birth and highly controlled feeding volumes provides evidence for the hypothesis that these polymorphisms affect food intake behavior and hunger rather than metabolism and energy consumption.
    PLoS ONE 01/2013; 8(6):e66331. · 3.53 Impact Factor
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    ABSTRACT: BACKGROUND: Morbidity and mortality in Very Low Birth Weight (VLBW) infants during their hospital stay have been well described. However, there are insufficient data regarding health problems after discharge. STUDY DESIGN: In a multicenter study performed between January 2009 and December 2010 including 2493 VLBW infants, questionnaires were sent out to all participating parents in the first year of life. We compared the parental reported health of VLBW infants with a national cohort (KIGGS). RESULTS: The reported health of VLBW infants born after 29weeks of gestation was identical to term infants. Even in the group of infants born before 24weeks of gestation health was regarded as very good or good in >70% of cases. However, parents described a delayed development in >50% increasing to >70% with lower gestational age. In the first year of life VLBW infants have an increased risk of visual and hearing problems. Bronchitis was more frequent in VLBW infants but there were no differences in other infections typical for that age group. VLBW infants had less sleeping problems. No gender differences were described. CONCLUSION: VLBW infants in our study require slightly more medical care compared to their peers. However, medical problems are relatively small compared to the developmental needs as perceived by their parents. Therefore, close follow-up and advice by specialists in infant development are needed.
    Early human development 12/2012; · 2.12 Impact Factor
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    ABSTRACT: The increasing rates of preterm birth among twins implicate that solid data on associated risks and outcomes are required. Assessment of zygosity is often based on clinical criteria (evaluation of placenta; same gender, birth weight discordance as surrogate criteria for monochorionic/monozygotic twins). The aim of this study was to compare clinical versus genetic assessment of zygosity and to compare causes of preterm delivery as well as outcome data of very-low-birth-weight (VLBW; birth weight <1,500 g) twins stratified to zygosity. In a multicenter study, we selected n=176 sets of same gender twins and determined zygosity genetically. In a subgroup of 123 sets of twins, the attending physicians at the study centers were asked to document the parameter 'zygosity' (monozygotic/dizygotic) on the basis of their clinical judgment. Concordance between genetic and clinical assessment was 62.7% for monozygotic twins and 88.9% for dizygotic twins, respectively. Outcome parameters (death, BPD, ROP, NEC, IVH) were comparable in both groups. Genetically dizygotic twins were significantly more often born due to intrauterine infection (33% vs. 20% in monozygotic twins, p<.01) and antenatal antibiotics were more frequently given to mothers of dizygotic twins (62% vs. 47% in monozygotic twins, p<.01). Obstetric complications such as twin-twin-transfusion-syndrome were only seen in monozygotic twins as expected. The unexpected increase of antenatal antibiotic treatment and birth due to intrauterine infection in dizygotic twins should be confirmed in additional VLBW twin-cohorts.
    Twin Research and Human Genetics 08/2012; 15(4):532-6. · 1.92 Impact Factor
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    ABSTRACT: Congenital insensitivity to pain with anhidrosis is an autosomal recessive disorder caused by mutations in the neurotrophic tyrosine receptor kinase 1 (NTRK1) gene, which encodes the receptor for nerve growth factor. We report the clinical and radiological pitfalls in the diagnosis and treatment of two brothers, aged 5 and 8 years, with congenital insensitivity to pain with anhidrosis, the older brother having a proven NTRK1 mutation. In the neonatal period, both presented with recurrent episodes of fever of unknown origin, but their clinical problems changed later. In addition to severe mental retardation and self-harming behaviour, the older brother developed recurrent nonbacterial destructive infections of both the calcaneus and later the talus. No immunodeficiency was found. The younger brother had three complex fractures with a long history of healing problems: overwhelming production of callus, osteomyelitis and movement restrictions. He has less mental retardation than his older brother and shows no self-mutilation.
    Journal of pediatric orthopaedics. Part B / European Paediatric Orthopaedic Society, Pediatric Orthopaedic Society of North America 07/2012; · 0.66 Impact Factor
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    ABSTRACT: To report the first prenatal dopaminergic replacement therapy in autosomal recessive (AR) guanosine triphosphate cyclohydrolase 1 (GTPCH) deficiency without hyperphenylalaninemia. Case reports, literature review, and video presentation. University of Lübeck, Lübeck, Germany. Two boys from a consanguineous family. Physical and mental development as a function of replacement initiation. The older sibling presented with typical features of AR GTPCH deficiency due to a homozygous mutation in the GCH1 gene with proven pathogenicity. Levodopa treatment was initiated at age 10 months and resulted in a distinct motor improvement. However, mental development was delayed. In the younger sibling, prenatal replacement therapy was initiated after a prenatal diagnosis of AR GTPCH deficiency was made. At age 17 months, both motor and mental development were normal for his age. This report highlights the importance of an early diagnosis, including prenatal diagnosis, of complex dopa-responsive extrapyramidal syndromes. Prenatally initiated dopaminergic replacement therapy is beneficial and thus justified in AR GTPCH deficiency, allowing prevention of significant impairment of mental abilities.
    Archives of neurology 04/2012; 69(8):1071-5. · 7.58 Impact Factor
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    ABSTRACT: Alpers-Huttenlocher syndrome (AHS) is a very rare autosomal recessive disorder. AHS is caused by homozygous or compound heterozygous mutations in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG, chromosome 15q25). Most patients become symptomatic before the age of 2 years. We report 3 patients who were treated in our clinic between 2007 and 2010. All patients suffered from myoclonic seizures and had at least one refractory convulsive status which led to the diagnosis. All of them had varying degrees of developmental delay, 2 of them additionally ataxia. Gastrointestinal motility problems were severe in all patients despite only mildly deranged liver function. While in most aspects our patients present with typical AHS features, they also share intestinal problems, a feature that has not been recognized as typical for AHS before. AHS is a multisystem disorder that does affect all cell systems. Liver and brain are organs with the highest energy demand and are therefore usually affected early in the disease course of AHS. However, constipation and bowel obstruction should be regarded as typical complications in AHS and patients should be monitored and treated to improve quality of life. Regarding treatment options for epilepsy in AHS ketogenic diet as well as lacosamide might be considered.
    Neuropediatrics 10/2011; 42(5):194-6. · 1.19 Impact Factor
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    ABSTRACT: D-bifunctional protein deficiency (DBPD) is an autosomal recessive disease caused by a defect in peroxisomal β-oxidation. The majority of patients suffer from a severe neurological disease with neonatal hypotonia and seizures and die within the first 2 years of life. Few patients show milder clinical phenotypes with prolonged survival. The diagnosis relies on the clinical presentation, measurement of peroxisomal markers, including very long chain fatty acids (VLCFA) in plasma, followed by enzymatic studies in fibroblasts and genetic testing. Diagnosis can be difficult to establish in milder cases, especially if VLCFA concentration in plasma is not or only mildly elevated. We report on siblings in which initial measurement of plasma VLCFA did not indicate a peroxisomal disease. Nevertheless, cMRI showed a pattern typical for an inborn peroxisomal disease with cerebral and cerebellar leukencephalopathy, perisylvic polymicrogyria, and frontoparietal pachygyria. Repeated measurements of peroxisomal metabolites in plasma prompted by the cMRI findings showed values in the upper normal or mildly elevated range and led to further diagnostic steps. The diagnosis of a type III DBPD with a missense mutation (T15A) in the HSD17B4 gene, coding for D-bifunctional protein (DBP), could be established. We conclude that a typical "peroxisomal pattern" in cMRI including cerebral and cerebellar leukencephalopathy, perisylvic polymicrogyria and pachygyria is a valuable clue to the diagnosis of DBPD, especially in cases with no or only very mild abnormalities in plasma.
    American Journal of Medical Genetics Part A 11/2010; 152A(11):2845-9. · 2.30 Impact Factor
  • J Spiegler, J Sperner
    Neuropediatrics 08/2010; 41(02). · 1.19 Impact Factor
  • Neuropediatrics 08/2010; 41(02). · 1.19 Impact Factor
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    ABSTRACT: The insertion/deletion polymorphism of the angiotensin-converting enzyme (ACE-ins/del) and the angiotensin II type 1 receptor 1166A/C polymorphism (ATR1166A/C) were reported to be associated with several unfavorable outcome parameters in preterm infants like bronchopulmonary dysplasia, persistent ductus arteriosus and impaired insulin sensitivity. Objective: To confirm the above-mentioned associations in a large cohort of very-low-birthweight (VLBW) infants. Clinical data of VLBW infants were prospectively recorded. The ACE-ins/del polymorphism and the ATR1166A/C polymorphism were determined by polymerase chain reaction in 1,209 and 1,168 infants, respectively. There was no significant association between ACE-ins/del or ATR1166A/C genotype and outcome parameters (death, intraventricular hemorrhage, sepsis, bronchopulmonary dysplasia, ventilation, supplemental oxygen at discharge, postnatal treatment with insulin, surgery for intestinal perforation/necrotizing enterocolitis/retinopathy of prematurity/persistent ductus arteriosus. Both known functional polymorphisms of the renin-angiotensin system do not seem to be associated with the outcome of VLBW infants.
    Neonatology 08/2009; 97(1):10-4. · 2.57 Impact Factor
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    ABSTRACT: Given the susceptibility of newborns to infection and the potential harm of overwhelming proinflammatory immune responses, the impact of genetic variation in innate immune molecules is of increasing interest for risk stratification and prevention. We studied the functional relevance of the 159C>T CD14 single nucleotide polymorphism in cord blood samples of n=135 healthy term neonates by investigation of sCD14, interleukin (IL)-6, IL-10, and tumor necrosis factor (TNF)-alpha concentrations in whole-blood culture supernatants and intracellular assessment of IL-1beta, IL-6, and TNF-alpha expression by flow cytometry. The 159C>T CD14 genotype frequencies were n=42 (0.31) for homozygous CD14-159 CC, n=69 (0.51) for heterozygous CD14-159 CT, and n=24 (0.18) for homozygous CD14-159 TT. No genotype-associated differences were noted for ex vivo baseline expression of sCD14, IL-6, IL-10, and TNF-alpha. After in vitro stimulation of cord blood cultures with lipopolysaccharide, carriers of the CD14-159 T allele were determined to have higher levels of sCD14 compared with carriers of the CD14-159 C allele (p=0.04) and increased concentrations of IL-6 (p=0.009) in culture supernatants (one-way analysis of variance). The 159C>T CD14 polymorphism is associated with soluble CD14 expression and cytokine expression, which might influence the balance of pro- and anti-inflammatory immune responses in healthy term neonates. Further studies are needed to delineate whether the 159C>T CD14 genotype is a risk factor for severity of neonatal infection in the clinical setting and a potential target for prevention strategies.
    Human Immunology 07/2008; 69(6):338-43. · 2.28 Impact Factor
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    ABSTRACT: In a cohort of 829 preterm infants (birth weight below 1500 g) we identified 13 monozygotic, 10 same-sex dizygotic, and 12 same-sex matched singleton pairs. The difference in daily weight gain within pairs was significantly lower in monozygotic twins compared with dizygotic twins or matched singleton pairs. Our data support a strong genetic influence on postnatal growth in preterm infants. Therefore, weight gain of preterm infants may be an interesting model to study polymorphic variants of genes regulating neonatal resorption, metabolism, or energy expenditure, and their influence on weight gain in preterm infants.
    Journal of pediatric gastroenterology and nutrition 02/2008; 46(1):113-6. · 2.18 Impact Factor
  • Zeitschrift für Geburtshilfe und Neonatologie 01/2007; 211. · 0.46 Impact Factor
  • J Spiegler, W Göpel, E Herting
    Zeitschrift für Geburtshilfe und Neonatologie 01/2007; 211. · 0.46 Impact Factor
  • Zeitschrift für Geburtshilfe und Neonatologie 01/2007; 211. · 0.46 Impact Factor
  • Zeitschrift für Geburtshilfe und Neonatologie 01/2007; 211. · 0.46 Impact Factor

Publication Stats

35 Citations
32.40 Total Impact Points


  • 2008–2013
    • Universität zu Lübeck
      • • Department of Paediatrics
      • • Klinik für Kinder- und Jugendmedizin
      Lübeck, Schleswig-Holstein, Germany
  • 2012
    • University Medical Center Schleswig-Holstein
      • Department of Pediatrics
      Kiel, Schleswig-Holstein, Germany