B Simma

State Hospital Feldkirch, Feldkirch, Vorarlberg, Austria

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Publications (65)224.62 Total impact

  • D Jonas, W Dietz, B Simma
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    ABSTRACT: Infants of diabetic mothers (IDM), large (LGA) or small (SGA) for gestational age and late preterm (LPT) infants are at risk for hypoglycemia. We report the incidence, the consequences and the impact of a recently implemented guideline. From 1 January to 31 December 2012 we screened infants at risk. The first blood glucose was done within 90 min after birth, 30 min after the first feeding and had to be repeated before each feeding. Hypoglycemia was defined as blood glucose below 40 mg/dL independent of age; all babies remained in the study for at least 24 h or until at least 3 glucose measurements were >40 mg/dL. Results: We identified 259 out 1 074 (24.1%) infants and included 145 (56.0%) of these infants in a retrospective analysis. 17 (11.7%) infants (male:female=1:1.1) showed 19 episodes of hypoglycemia. 3 of them had more than one risk factor, 2 were LGA at term. 6 (35%) out of 17 infants had to be transferred, one due to clinical signs and 5 according to the protocol. Mean number of blood glucose measurement was 6.9±1.9. The number of procedures performed to detect one episode of hypoglycemia was 54. Conclusion: The incidence of hypoglycemia in infants at risk is low and does not justify screening such a large risk group, which may harm them by requiring a disproportionately large number of blood withdrawals.
    Klinische Pädiatrie 09/2014; 226(5):287-291. · 1.90 Impact Factor
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    ABSTRACT: Genome-wide association studies (GWAS) repeatedly identified 1q23 (FCER1A), 5q31 (RAD50-IL13 and IL4), and 12q13 (STAT6) as major susceptibility loci influencing the regulation of total serum IgE levels. As GWAS may be insufficient to capture causal variants, we performed fine-mapping and re-genotyping of the three loci using 1000 Genomes Project datasets.
    Allergy 06/2014; · 6.00 Impact Factor
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    ABSTRACT: Both FCER2 and FCER1A encode subunits of IgE receptors. Variants in FCER1A were previously identified as major determinants of IgE levels in genome-wide association studies. Here we investigated in detail whether FCER2 polymorphisms affect IgE levels alone and/or by interaction with FCER1A polymorphisms. To cover the genetic information of FCER2, 21 single-nucleotide polymorphisms (SNPs) were genotyped by Illumina HumanHap300 BeadChip (5 SNPs) and the matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS; 14 SNPs) in at least 1303 Caucasian children (651 asthmatics) (ISAAC II/ MAGICS population); genotypes of two SNPs were imputed. SNP rs3760687 showed the most consistent effect on total serum IgE levels (b [SE] = -0.38 [0.16]; P = 0.016), while FCER2 polymorphisms in general were predominantly associated with mildly-to-moderately increased IgE levels (50th and 66th percentiles). Gene-by-gene interaction analysis suggests that FCER2 polymorphism rs3760687 influences IgE levels mainly in individuals not homozygous for the risk allele of FCER1A polymorphism rs2427837, which belongs to the major IgE-determining tagging bin in the population. FCER2 polymorphism rs3760687 affects moderately elevated total serum IgE levels, especially in the absence of homozygosity for the risk allele of FCER1A SNP rs2427837.
    Allergy 12/2013; · 6.00 Impact Factor
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    The Journal of allergy and clinical immunology 11/2013; · 12.05 Impact Factor
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    ABSTRACT: Interferon-regulatory factors (IRFs) play a crucial role in immunity, not only influencing interferon expression but also T cell differentiation. IRF-4 was only recently recognized as a further major player in T cell differentiation. As IRF-1 polymorphisms were shown to be associated with atopy and allergy, we comprehensively investigated effects of IRF-4 variants on allergy, asthma and related phenotypes in German children. Fifteen tagging single nucleotide polymorphisms (SNPs) in the IRF-4 gene were genotyped by MALDI-TOF MS in the cross-sectional ISAAC phase II study population from Munich and Dresden (age 9-11; N = 3099). Replication was performed in our previously established genome-wide association study (GWAS) data set (N = 1303) consisting of asthma cases from the Multicenter Asthma Genetic in Childhood (MAGIC) study and reference children from the ISAAC II study. SNPs were not significantly associated with asthma but with bronchial hyperresponsiveness, atopy and, most interestingly, with recurrent bronchitis in the first data set. The IRF-4 variant rs9378805 was associated with recurrent bronchitis in the ISAAC population and replicated in the GWAS data set where further SNPs showed associations with recurrent bronchitis and asthma. We found genetic associations in IRF-4 to be associated with recurrent bronchitis in our two study populations. Associated polymorphisms are localized in a putative regulatory element in the 3'UTR region of IRF-4. These findings suggest a putative role of IRF-4 in the development of bronchitis.
    Clinical & Experimental Allergy 10/2013; 43(10):1152-9. · 4.32 Impact Factor
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    ABSTRACT: Interstitial duplications of the short arm of chromosome 2 have been rarely described. Here, we report on two unrelated patients with overlapping chromosome 2p16 → p22 de novo microduplications found by SNP-array analysis. The affected individuals were an 8-year-3-month-old boy with a direct duplication of approximately 14.6 Mb harboring 63 genes, and a 12-year-old girl with a direct duplication of around 9.6 Mb harboring 48 genes. Both patients have severe growth retardation, delayed bone age, prominent veins on trunk and extremities, total IGF1 level in the low range, mild developmental delay, and facial dysmorphism such as relative macrocephaly, a broad and prominent forehead, and a large anterior fontanelle. Comparison with patients previously reported in the literature and in the DECIPHER 5.1 and ECARUCA databases indicates a common region of interest of around 1.9 Mb responsible for most of the features. Two candidate genes (EPAS and RHOQ), may be particularly relevant for the marked growth retardation and developmental delay. © 2013 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 09/2013; 161(12). · 2.30 Impact Factor
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    ABSTRACT: The aim of this study was to evaluate the prevalence of diabetic peripheral neuropathy in children and adolescents with type 1 diabetes mellitus and examine whether the neurological examination validly diagnoses diabetic peripheral neuropathy as compared with the gold standard of nerve conduction velocity in these patients. Nerve conduction velocity was measured in an unselected consecutive series of patients aged 8-18 years who had been suffering from type 1 diabetes mellitus for at least 1 year. For the neurological examination, neuropathy disability scores and neuropathy sign scores were used. Of the 39 patients, six (15%) had clinically evident diabetic peripheral neuropathy, whereas nerve conduction velocity testing revealed diabetic peripheral neuropathy in 15 (38%) patients. Sensitivity and specificity of the neurological examination for the diagnosis of diabetic peripheral neuropathy were 40% and 100%, respectively. The corresponding positive and negative predictive values were 100% and 72.7%, respectively. This conclusions from this study are that in children and adolescents with type 1 diabetes mellitus, diabetic peripheral neuropathy is highly prevalent, but in the majority of patients it is subclinical. Sensitivity and negative predictive values of the neurological examination are low. Therefore, routine nerve conduction velocity measurement for the assessment of diabetic peripheral neuropathy appears to be warranted in these patients.
    Pediatric Neurology 07/2013; · 1.50 Impact Factor
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    ABSTRACT: BACKGROUND: Recently, three genome-wide association studies (GWAS) demonstrated FCER1A, the gene encoding a ligand-binding subunit of the high-affinity IgE receptor, to be a major susceptibility locus for serum IgE levels. The top association signal differed between the two studies from the general population and the one based on an asthma case-control design. In this study, we investigated whether different FCER1A polymorphisms are associated with total serum IgE in the general population and asthmatics specifically. METHODS: Nineteen polymorphisms were studied in FCER1A based on a detailed literature search and a tagging approach. Polymorphisms were genotyped by the Illumina HumanHap300Chip (6 polymorphisms) or MALDI-TOF MS (13 polymorphisms) in at least 1303 children (651 asthmatics) derived from the German International Study of Asthma and Allergies in Childhood II and Multicentre Asthma Genetics in Childhood Study. RESULTS: Similar to two population-based GWAS, the peak association with total serum IgE was observed for SNPs rs2511211, rs2427837, and rs2251746 (mean r(2) > 0.8), with the lowest p-value of 4.37 × 10(-6) . The same 3 polymorphisms showed the strongest association in non-asthmatics (lowest p = 0.0003). While these polymorphisms were also associated with total serum IgE in asthmatics (lowest p = 0.003), additional polymorphisms (rs3845625, rs7522607, and rs2427829) demonstrated associations with total serum IgE in asthmatics only (lowest p = 0.01). CONCLUSIONS: These data suggest that FCER1A polymorphisms not only drive IgE levels in the general population but that specific polymorphisms may also influence IgE in association with asthma, suggesting that disease-specific mechanisms in IgE regulation exist.
    Pediatric Allergy and Immunology 06/2013; · 3.38 Impact Factor
  • Burkhard Simma, Jürg Lütschg, James M Callahan
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    ABSTRACT: Mild head injury is of interest because of a history of under diagnosis and underestimated clinical importance. Half of the patients with mild head injuries or concussions have sport-related injuries. Knowledge of symptoms and appropriate management can be improved and is a matter of practical interest. Several algorithms exist for discharge, admission or for cranial computed tomography (CT).These employ different risk factors and calculate their sensitivity of correctly identifying children with traumatic brain injury (TBI). In contrast, a multicenter, prospective study in the United States developed a prediction model to diagnose the absence of intracranial injury when certain symptoms are missing (negative prediction value). An acute concussion presents with a combination of physical, cognitive, and emotional symptoms, which are usually self-limited. In young athletes, a second impact before full recovery from the first may have deleterious consequences and should be avoided by strict "return to play" rules. Recent research suggests that repetitive minor hits may cause delayed brain damage (dementia pugilistica, "punch-drunk syndrome"). A link to neurodegenerative diseases such as dementia, Alzheimer's disease and parkinsonism (tauopathies) is described by amyloid β plaques in the brain of such patients. A genetic predisposition (apolipoprotein) is discussed. This review focuses on the rules attempting to determine the need for cranial CT in the emergency department and the impact of mild head injuries in young athletes. We describe in detail standardized guidelines for appropriate diagnosis and treatment and discuss the association between repetitive minor injuries and chronic traumatic encephalopathy and neurodegenerative diseases.
    The American journal of emergency medicine 05/2013; · 1.15 Impact Factor
  • Neuropediatrics 03/2013; 44(02). · 1.10 Impact Factor
  • Klinische Pädiatrie 03/2013; · 1.90 Impact Factor
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    The Journal of allergy and clinical immunology 02/2013; · 12.05 Impact Factor
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    The Journal of allergy and clinical immunology 12/2012; · 12.05 Impact Factor
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    ABSTRACT: The aim of this review is to summarize the existing literature on therapy and management of cerebrovascular insults in children and adolescents. As data sources, studies were identified by MEDLINE, PubMed, Cochrane Library, and relevant bibliographies for the topic "pediatric stroke." We also reviewed guidelines for "stroke in adults." As a result, pediatric stroke is underestimated. The annual incidence for all stroke entities (cerebral venous thrombosis and hemorrhagic and arterial ischemic stroke) is as high as for pediatric brain tumors, 3-15/100.000 children per year. A distinct etiology can be determined only in a minority of them. Underlying risk factors are multiple, mainly vasculopathies, congential heart diseases, coagulopathies, lipometabolic disorders, and sickle cell anemia. Current recommendations for therapy are based on adult studies, are preliminary, and discussed controversially. Antithrombotic therapy is uniformly recommended for the acute stage of pediatric stroke; no consensus exists on antiplatelet therapy with acetylsalicylic acid (ASA, aspirin) (5 mg/d), with ultra-fractionated or low-molecular-weight heparin. Thrombolysis using recombinant tissue plasminogen activator is not advised, despite the fact that current practice takes a different approach. None of the guidelines specify the duration of ASA for secondary prevention. Additional supportive therapy measures are osmotherapy and decompressive craniectomy. Oxygen in the absence of hypoxemia, intensive insulin therapy, antiepileptic drugs in the absence of clinical or electrographic seizures, corticosteroids, and GP-IIb/IIIa-receptor antagonists should not be used outside clinical trials. In conclusions, current therapeutic guidelines for pediatric stoke are still based on consensus and expert and society opinions and differ between countries. Consensus prevails on the need for acute anticoagulation using either antiplatelets or heparin. Long-term treatment with acetylsalicylic acid in all or only high-risk patients and for how long remains the subject of debate. Lifelong secondary prevention has never been investigated in children or adults. All guidelines agree that there is no indication for thrombolysis in children outside clinical trials, although clinical practice in large centers differs.
    European Journal of Pediatrics 11/2012; · 1.98 Impact Factor
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    ABSTRACT: To cite this article: Toncheva AA, Suttner K, Michel S, Klopp N, Illig T, Balschun T, Vogelberg C, von Berg A, Bufe A, Heinzmann A, Laub O, Rietschel E, Simma B, Frischer T, Genuneit J, von Mutius E, Kabesch M. Genetic variants in Protocadherin-1, bronchial hyper-responsiveness, and asthma subphenotypes in German children. Pediatr Allergy Immunol 2012. ABSTRACT: Background:  Recently, Protocadherin-1 (PCDH1) was reported as a novel susceptibility gene for bronchial hyper-responsiveness (BHR) and asthma. PCDH1 is located on chromosome 5q31-33, in the vicinity of several known candidate genes for asthma and allergy. To exclude that the associations observed for PCDH1 originate from the nearby cytokine cluster, an extensive linkage disequilibrium (LD) analysis was performed. Effects of polymorphisms in PCDH1 on asthma, BHR, and related phenotypes were studied comprehensively. Methods:  Genotype information was acquired from Illumina HumanHap300Chip genotyping, MALDI-TOF MS genotyping, and imputation. LD was assessed by Haploview 4.2 software. Associations were investigated in a population of 1454 individuals (763 asthmatics) from two German study populations [MAGICS and International Study of Asthma and Allergies in Childhood phase II (ISAAC II)] using logistic regression to model additive effects. Results:  No relevant LD between PCDH1 tagging polymorphisms and 98 single nucleotide polymorphisms within the cytokine cluster was detected. While BHR was not associated with PCDH1 polymorphisms, significant associations with subphenotypes of asthma were observed. Conclusion:  Protocadherin-1 polymorphisms may specifically affect the development of non-atopic asthma in children. Functional studies are needed to further investigate the role of PCDH1 in BHR and asthma development.
    Pediatric Allergy and Immunology 10/2012; · 3.38 Impact Factor
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    ABSTRACT: Der Anteil von Frühgeborenen mit weniger als 32 Schwangerschaftswochen (SSW) an der Gesamtzahl der Lebendgeborenen beträgt etwa 1%. Aufgrund des Risikos dieser Kinder, eine entwicklungsneurologische Verzögerung bzw. ein Defizit zu entwickeln, muss eine entsprechende Nachbetreuung angeboten werden. Bei jedem dieser Kinder sind eine neurologische Untersuchung, zumindest eine Augenuntersuchung sowie ein Hörscreening (otoakustische Emissionen), im Rahmen des stationären Aufenthalts durchzuführen. Eine klinische und neurologische Untersuchung inklusive entwicklungsneurologischer Testung (Bayley-Testung II/III) im korrigierten Alter von 2 Jahren sowie eine klinische und neurologische Untersuchung inklusive kognitiver Testung mit 5 Jahren sollen im Rahmen der Frühgeborenennachsorge angeboten werden (Minimalkonsens). Im Sinne eines optimierten Standards der entwicklungsneurologischen Nachsorge sind zusätzlich 1 bis 3 klinische Untersuchungen im 1. Lebensjahr, eine klinische und neurologische Untersuchung mit korrigiert 1 Jahr sowie eine klinische und neurologische Untersuchung inklusive kognitiver sowie sprachlicher Testung (v. a. bei Auffälligkeiten in der Voruntersuchung mit korrigiert 2 Jahren) mit 3 Jahren zu empfehlen. Eine österreichweite Datenbank aller Frühgeborenen mit einem Gestationsalter von weniger als 32 SSW ist wünschenswert. Abstract About 1% of newborn babies have a gestational age of less than 32 weeks. These infants are at increased risk of developmental delay or neurologic deficits, and need continuous care and special follow-up services. A neurological examination, at least one ophthalmological examination as well as a neurosensory screening (otoacustic emissions) should be performed before discharge from the hospital. At a corrected age of 2 years, a physical and neurological examination including neurodevelopmental testing (Bayley II/III) is recommended. At the age of 5 years, the physical and neurological examination should be repeated including cognitive testing (minimal consensus). Optimal follow-up service also includes 1–3 follow-up visits in the first year of life. Moreover, at a corrected age of 1 year a detailed physical and neurological examination is recommended as well as at an age of 3 years including testing of cognition and language skills (especially in case of below normal testing at 2 years of corrected age). An Austrian-wide database to document follow-up of all preterm infants with a gestational age of less than 32 weeks should be established.
    Monatsschrift Kinderheilkunde 07/2012; 160(7):681-683. · 0.28 Impact Factor
  • Neuropediatrics 04/2012; 43(02). · 1.10 Impact Factor
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    ABSTRACT: Free asymmetric dimethylarginine (ADMA) is a competitive inhibitor of the nitric oxide synthases (NOS). Suppression of nitric oxide (NO) synthesis increases the risk of atherosclerosis. Nevertheless, in the condition of oxidative stress, NOS blockade by ADMA may exert protective effects. Protein metabolism is altered in patients with phenylketonuria (PKU) on dietary treatment and as shown recently, oxidative stress is high in PKU. Since free ADMA concentrations are determined by both protein metabolism and oxidative stress we hypothesized, that free ADMA levels may be elevated in PKU patients. Sixteen patientswith PKU on dietary treatment (mean age 10.1 ± 5.2 yrs), and 91 healthy children (mean age 11.6 ± 3.7 yrs) participated in a cross sectional study. ADMA, total homocysteine (tHcy) and blood glucose were lower and the L-arginine/ADMA ratio was higher in PKU patients compared to controls. No significant correlation was present between phenylalanine (Phe) concentrations, protein intake, and lipid profile, history of cardiovascular disease or ADMA. In contrast to our hypothesis, ADMAwas lower and the L-arginine/ADMA ratio was higher in PKU patients. Therefore, in PKU patients, the regulating function of ADMA on NO synthesis is altered and may thus contribute to oxidative stress.
    Journal of Inherited Metabolic Disease 01/2012; 35(5):817-21. · 4.14 Impact Factor
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    ABSTRACT: Over more than 50 years, the nocuous effects of smoking in pregnancy on the fetus are well known. In the first years of science the focus was primarily on restricted fetal growth while in more recent years over 10.000 studies investigated the incomparably big sum of detrimental effects for the unborn's health. In this statement we want to present the recent scientific findings on this topic. The statement is aimed to show all doctors who treat pregnant women the present situation and evidence. In the beginning we give a short overview about the epidemiological situation in Europe. Then we present step by step the health effects with regards to pathophysiology and clinics. Furthermore the reader will learn about possibilities for smoking cessation in pregnancy. The problem of passive-smoking in pregnancy will be dealt with in a separate chapter. At present there is strong evidence that pregnant smoking has a detrimental effect on birth-weight, placenta-associated disease, stillbirth, sudden infant death syndrome (SIDS), childhood overweight, clefts, lung function, asthma, cardiovascular diseases and mental developmental disorders. These factors can be summarized by the term Fetal Tobacco Syndrome. There is supply for more studies for less investigated health effects. Pregnancy is a chance to stop smoking as most women show a high motivation in this period. Hence doctors of all disciplines should inform pregnant women about the detrimental effects of smoking on their unborn child and show them possibilities for smoking cessation.
    Wiener klinische Wochenschrift 12/2011; 124(5-6):129-45. · 0.79 Impact Factor
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    ABSTRACT: Canavan disease, an autosomal recessive inherited leukodystrophy caused by an aspartoacylase deficiency, is common among children of Ashkenazi Jewish descent. We report on a non-Jewish female infant who presented at age 6 months with progressive macrocephaly and developmental delay. A sequence analysis of the aspartoacylase gene revealed compound heterozygosity for a known mutation and for the mutation c.432G>A in exon 2, which has not yet been described in Canavan disease.
    Pediatric Neurology 10/2011; 45(4):256-8. · 1.50 Impact Factor

Publication Stats

504 Citations
224.62 Total Impact Points

Institutions

  • 2002–2014
    • State Hospital Feldkirch
      • Department of Paediatrics
      Feldkirch, Vorarlberg, Austria
  • 2013
    • Pontifícia Universidade Católica do Rio Grande do Sul
      Pôrto de São Francisco dos Casaes, Rio Grande do Sul, Brazil
    • Private University in the Principality of Liechtenstein
      Triesen, Triesen, Liechtenstein
  • 2010–2013
    • Hannover Medical School
      • Clinic for Paediatric Pneumology and Neonatology
      Hannover, Lower Saxony, Germany
  • 1990–2004
    • University of Innsbruck
      • Institute of Biochemistry
      Innsbruck, Tyrol, Austria