Gouw S.C.,Wilhelmina Childrens Hospital |
Gouw S.C.,University Utrecht |
Van Der Bom J.G.,Leiden University |
Van Der Bom J.G.,Center for Clinical Transfusion Research |
And 13 more authors.
New England Journal of Medicine | Year: 2013
BACKGROUND: For previously untreated children with severe hemophilia A, it is unclear whether the type of factor VIII product administered and switching among products are associated with the development of clinically relevant inhibitory antibodies (inhibitor development). METHODS: We evaluated 574 consecutive patients with severe hemophilia A (factor VIII activity, <0.01 IU per milliliter) who were born between 2000 and 2010 and collected data on all clotting-factor administration for up to 75 exposure days. The primary outcome was inhibitor development, which was defined as at least two positive inhibitor tests with decreased in vivo recovery of factor VIII levels. RESULTS: Inhibitory antibodies developed in 177 of the 574 children (cumulative incidence, 32.4%); 116 patients had a high-titer inhibitory antibody, defined as a peak titer of at least 5 Bethesda units per milliliter (cumulative incidence, 22.4%). Plasma-derived products conferred a risk of inhibitor development that was similar to the risk with recombinant products (adjusted hazard ratio as compared with recombinant products, 0.96; 95% confidence interval [CI], 0.62 to 1.49). As compared with third-generation full-length recombinant products (derived from the full-length complementary DNA sequence of human factor VIII), second-generation full-length products were associated with an increased risk of inhibitor development (adjusted hazard ratio, 1.60; 95% CI, 1.08 to 2.37). The content of von Willebrand factor in the products and switching among products were not associated with the risk of inhibitor development. CONCLUSIONS: Recombinant and plasma-derived factor VIII products conferred similar risks of inhibitor development, and the content of von Willebrand factor in the products and switching among products were not associated with the risk of inhibitor development. Second-generation full-length recombinant products were associated with an increased risk, as compared with third-generation products. (Funded by Bayer Healthcare and Baxter BioScience). Copyright © 2013 Massachusetts Medical Society.
PubMed | Royal Sussex County Hospital, University of Cape Town, University of Rome Tor Vergata, Sydney Childrens Hospital and 23 more.
Type: Journal Article | Journal: Orphanet journal of rare diseases | Year: 2017
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort.Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12months, or newly diagnosed individuals were included. The registry includes a core section designed to record detailed background information on each patient including disease manifestations, interventions, and outcomes collected at baseline and updated annually. Subsections of the registry recorded additional data related to specific features of TSC.Baseline core data from 2093 patients enrolled from 170 sites across 31 countries were available at the cut-off date September 30, 2014. Median age of patients at enrollment was 13years (range, 0-71) and at diagnosis of TSC was 1year (range, 0-69). The occurrence rates of major manifestations of TSC included - cortical tubers (82.2%), subependymal nodules (78.2%), subependymal giant cell astrocytomas (24.4%), renal angiomyolipomas (47.2%), lymphangioleiomyomatosis (6.9%), cardiac rhabdomyomas (34.3%), facial angiofibromas (57.3%), forehead plaque (14.1%), 3 hypomelanotic macules (66.8%), and shagreen patches (27.4%). Epilepsy was reported in 1748 (83.5%) patients, of which 1372 were diagnosed at2years (78%). Intellectual disability was identified in 451 (54.9%) patients of those assessed. TSC-associated neuropsychiatric disorders (TAND) were diagnosed late, and not evaluated in 30-50% of patients.TOSCA is the largest clinical case series of TSC to date. It provided a detailed description of the disease trajectory with increased awareness of various TSC manifestations. The rates of different features of TSC reported here reflect the age range and referral patterns of clinics contributing patients to the cohort. Documentation of TAND and LAM was poor. A widespread adoption of the international TSC assessment and treatment guidelines, including use of the TAND Checklist, could improve surveillance. The registry provides valuable insights into the necessity for monitoring, timing, and indications for the treatment of TSC.
Rietschel E.,Universitatsklinik Cologne |
Huttegger I.,Universitatsklinik For Kinder Und Jugendheilkunde |
Lange L.,St Marien Hospital |
Urbanek R.,Zentrum fur Kinder und Jugendmedizin
Monatsschrift fur Kinderheilkunde | Year: 2012
Anaphylaxis is a severe, potentially life-threatening, systemic allergic reaction, which generally happens unexpectedly in healthy individuals. Among children, the most common elicitors are food, insect stings, and drugs. Currently, the incidence of anaphylaxis is increasing. Risk factors are asthma, infections as well as previous, sudden respiratory and cardiovascular symptoms after exposure to a specific antigen. If cutaneous, respiratory, gastrointestinal, cardiovascular and neurologic symptoms involving ≥2 organ systems occur, adrenaline/epinephrine, preferably intramuscularly, should be administered. Although allergen skin testing and serological estimation of specific IgE antibodies do not predict who will develop anaphylaxis, they help to identify sensitized individuals at risk. Patients with a history of anaphylaxis need training on how to use the emergency medication and how to recognize and prevent the anaphylactic symptoms. © Springer-Verlag 2012.
Kuehni C.E.,University of Bern |
Frischer T.,Universitatsklinik For Kinder Und Jugendheilkunde |
Strippoli M.-P.F.,University of Bern |
Maurer E.,University of Bern |
And 10 more authors.
European Respiratory Journal | Year: 2010
Primary ciliary dyskinesia (PCD) is a hereditary disorder of mucociliary clearance causing chronic upper and lower airways disease. We determined the number of patients with diagnosed PCD across Europe, described age at diagnosis and determined risk factors for late diagnosis. Centres treating children with PCD in Europe answered questionnaires and provided anonymous patient lists. In total, 223 centres from 26 countries reported 1,009 patients aged <20 yrs. Reported cases per million children (for 5-14 yr olds) were highest in Cyprus (111), Switzerland (47) and Denmark (46). Overall, 57% were males and 48% had situs inversus. Median age at diagnosis was 5.3 yrs, lower in children with situs inversus (3.5 versus 5.8 yrs; p<0.001) and in children treated in large centres (4.1 versus 4.8 yrs; p=0.002). Adjusted age at diagnosis was 5.0 yrs in Western Europe, 4.8 yrs in the British Isles, 5.5 yrs in Northern Europe, 6.8 yrs in Eastern Europe and 6.5 yrs in Southern Europe (p<0.001). This strongly correlated with general government expenditures on health (p<0.001). This European survey suggests that PCD in children is under-diagnosed and diagnosed late, particularly in countries with low health expenditures. Prospective studies should assess the impact this delay might have on patient prognosis and on health economic costs across Europe. Copyright©ERS 2010.
Strippoli M.-P.F.,University of Bern |
Frischer T.,Universitatsklinik For Kinder Und Jugendheilkunde |
Barbato A.,University of Padua |
Snijders D.,University of Padua |
And 10 more authors.
European Respiratory Journal | Year: 2012
The European Respiratory Society Task Force on primary ciliary dyskinesia (PCD) in children recently published recommendations for diagnosis and management. This paper compares these recommendations with current clinical practice in Europe. Questionnaires were returned by 194 paediatric respiratory centres caring for PCD patients in 26 countries. In most countries, PCD care was not centralised, with a median (interquartile range) of 4 (2-9) patients treated per centre. Overall, 90% of centres had access to nasal or bronchial mucosal biopsy. Samples were analysed by electron microscopy (77%) and ciliary function tests (57%). Nasal nitric oxide was used for screening in 46% of centres and saccharine tests in 36%. Treatment approaches varied widely, both within and between countries. European region, size of centre and the country's general government expenditure on health partly defined availability of advanced diagnostic tests and choice of treatments. In conclusion, we found substantial heterogeneity in management of PCD within and between countries, and poor concordance with current recommendations. This demonstrates how essential it is to standardise management and decrease inequality between countries. Our results also demonstrate the urgent need for research: to simplify PCD diagnosis, to understand the natural history and to test the effectiveness of interventions. Copyright©ERS 2012.
Schuh D.,Universitatsklinik For Kinder Und Jugendheilkunde |
Hippler K.,Universitatsklinik For Kinder Und Jugendheilkunde |
Schubert M.,Universitatsklinik For Kinder Und Jugendheilkunde
PPmP Psychotherapie Psychosomatik Medizinische Psychologie | Year: 2011
Question: The aim of this study was to examine parental sense of coherence (SOC) as a resource for coming to terms with their childrens disease. Furthermore we examined the interaction between parental stress experience and SOC while controlling for neuroticism. 3 groups were compared: parents of children with (1) cystic fibrosis (CF, n=35), (2) juvenile idiopathic arthritis (JIA, n=31) and (3) mental health disorders (PSY, n=34). Methods: Parents were asked to complete the Heidelberger Sense of Coherence Questionnaire, the Parenting Stress Index and the Neuroticism Scale of the Trierer Integriertes Persnlichkeitsinventar. Results: There were no significant differences in SOC and neuroticism. Parents of children with mental health disorders showed significantly higher stress levels (M=2.60; p=0.001) than parents of children with CF (M=2.13) and JIA (M=1.99). In all groups, significant negative interactions between SOC and stress experience were found (r=0.46 to 0.65). However, this effect decreased when controlling for neuroticism (r=0.26 to 0.31). Implication: According to our results, the type of the childs disease is not relevant to the parents SOC. A well developed SOC in parents is likely to be helpful in coping with the stress associated with a childs disease or disorder. © Georg Thieme Verlag KG Stuttgart New York.
Haiden N.,Universitatsklinik For Kinder Und Jugendheilkunde
Monatsschrift fur Kinderheilkunde | Year: 2014
Background: A targeted nutritional management plays a key role in the health and growth of the preterm infant.Material and methods: This review article provides well-known and recent data on the topics of parenteral and enteral nutrition of very low birth weight preterm infants with a birth weight below 1500 g and late preterm infants. New concepts of individually adjusted enrichment of breast milk or human milk-based fortifiers are presented as well as recent data on probiotics and lactoferrin. In addition, relevant aspects of discharge management are discussed.Results: In parenteral nutrition an early onset and “aggressive” continuation are important issues to avoid growth restriction. New generations of lipid emulsions administered i.v. are available providing optimized immunomodulatory properties due to the favorable fatty acid profile. Standardized enteral feeding regimens including breast milk as the primary feeding source contribute to the prevention of necrotizing enterocolitis (NEC) and improve feeding tolerance.Conclusion: Adequate nutrition of preterm infants is of great importance because it helps to prevent morbidities, such as NEC and osteopenia of prematurity. There is convincing evidence that optimizing nutrition in the early postnatal life of a premature infant also has an impact on better long-term neurodevelopmental outcome later in life. © 2014, Springer-Verlag Berlin Heidelberg.
Urlesberger B.,Medical University of Graz |
Urlesberger B.,Universitatsklinik For Kinder Und Jugendheilkunde |
Brandner A.,Medical University of Graz |
Pocivalnik M.,Medical University of Graz |
And 3 more authors.
Neonatology | Year: 2013
Background: Oxygen delivery to the brain is dependent on cardiac output and arterial oxygen content. Objectives: The study was designed to investigate the influence of a left-to-right shunt via the ductus arteriosus (DA) on regional oxygen saturation (rSO2) of the brain and peripheral tissue during postnatal transition. Methods: Nested case-control study. In term neonates after elective cesarian section, rSO2 of the brain and pre-and postductal peripheral tissue were measured 15 min after uncomplicated postnatal transition. Two groups were formed according to shunt flow characteristics via the DA: shunt group (with a left-to-right shunt), and nonshunt group (no shunt). Results: Of 80 infants, in 58 (72%) a left-to-right shunt was identified, and in 22 (28%) no flow was seen via the DA. The 22 infants formed the nonshunt group. They were matched with 22 newborn infants with a left-to-right shunt via the DA (shunt group). Infants in the nonshunt group had significantly lower cerebral rSO2 values and higher fractional tissue oxygen extraction and heart rate values. There were no significant differences in regard to peripheral rSO2 values. Conclusion: During postnatal transition, term infants with a left-to-right shunt via the DA have significantly higher cerebral rSO2 values compared to infants without shunt flow. Copyright © 2013 S. Karger AG, Basel.
Hauer A.,Universitatsklinik For Kinder Und Jugendheilkunde
Padiatrische Praxis | Year: 2016
A strict glutenfree diet is the only effective treatment of coeliac disease. Considering nutritive and psychosocial aspects it may however cause problems. There are numerous possibilities to block the pathophysiological cascade of the development of coeliac disease, i.e. options for other therapies. So far mostly subjected to basic research, some of these treatment modalities (prolylendopeptidases, zonulin inhibitors, probiotics; vaccine) are currently investigated in clinical phase 1/2 trials, in part with promising results. Those pharmaceuticals studied best might be registered in approximately 5 years, although a supplementation rather than substitution of the glutenfree diet seems the most realistic approach to date.
Berger A.,Universitatsklinik For Kinder Und Jugendheilkunde
Gynakologe | Year: 2013
Cesarean sections are potentially life-saving for neonates with certain congenital anomalies and maternal infections, fetal malpresentation, cephalopelvic disproportion, multiple pregnancies and failure of labor progression. Additionally, there seems to be a significant survival advantage associated with cesarean delivery in extremely preterm infants of less than 25 weeks gestation. The main risk for neonates after cesarean section is the increased respiratory morbidity often requiring admission to an intensive care unit. Consequently, elective cesarean sections without medical indications should not be performed prior to 39 + 0 weeks of gestation. Other risks for the neonate include a delayed initiation of breastfeeding as well as a potentially increased risk for allergic conditions, such as asthma, allergic rhinitis and type 1 diabetes mellitus. The possible impact of increasing numbers of cesarean deliveries on the overall burden of allergic diseases is, however, small at the population level and causality has never been proven. However, it has to be assured that parents are counseled on the short-term and long-term consequences of a cesarean section particularly when performed electively at term on maternal request. © 2013 Springer-Verlag Berlin Heidelberg.