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Groningen, Netherlands

Verbruggen K.T.,Beatrix Childrens Hospital | Brouwer O.F.,University of Groningen
Clinical Genetics | Year: 2011

Opitz-Kaveggia syndrome is a rare X-linked multiple congenital anomalies and intellectual disability disorder caused by the recurrent p.R961W mutation in the MED12 gene. Twenty-three affected males from 10 families with this mutation in the MED12 gene have been described so far. Here we report on a new family with three affected cousins, in which we identified a novel MED12 mutation (p.G958E). This is the first demonstration that other mutations in this gene can also lead to Opitz-Kaveggia syndrome. The clinical phenotype of these three new cases is reviewed in detail and compared with the previous reported cases. © 2010 John Wiley & Sons A/S. Source


de la Fuente J.,Saint Mary Hospital | Biondi A.,University of Milan Bicocca | de Bont E.,Beatrix Childrens Hospital | Dresse M.-F.,CHR la Citadelle | Suttorp M.,TU Dresden
British Journal of Haematology | Year: 2014

Summary: Chronic myeloid leukaemia in children and young people is a relatively rare form of leukaemia that shows increased incidence with age and some evidence suggests that the molecular basis differs from that in adults. Significant advances in targeted therapy with the development and use in children of tyrosine kinase inhibitors and the ability to monitor and understand the prognostic significance of minimal residual disease by standardized molecular techniques has shifted the management of this condition from bone marrow transplantation as the main therapeutic modality to individualized treatment for each patient based on achieving specific milestones. The physiological changes occurring during childhood, particularly those affecting growth and development and the long-term use of treatment, pose specific challenges in this age group, which we are only beginning to understand. © 2014 John Wiley & Sons Ltd. Source


Van Spronsen F.J.,Beatrix Childrens Hospital
Journal of Inherited Metabolic Disease | Year: 2011

One of the issues to be resolved in phenylketonuria is whether patients with mild hyperphenylalaninemia need treatment, or in other words, in what patients treatment needs to be started. Do patients need treatment when phenylalanine concentrations in blood are >360 μmol/L or >600 μmol/L? This paper reviews the literature on the outcome of untreated patients with mild hyperphenylalaninemia to try to determine whether outcome is normal. The paper concludes that there is, in fact, only one paper that can be used to answer this question. Therefore, the question is whether we may rely on one paper to draw conclusions or whether more research is necessary to determine whether all patients with phenylalanine concentrations >360 μmol/L or all patients with phenylalanine concentrations >600 μmol/L require treatment. © 2011 The Author(s). Source


Vrijlandt E.J.L.E.,Beatrix Childrens Hospital | Vrijlandt E.J.L.E.,GRIAC Research Institute | Kerstjens J.M.,Beatrix Childrens Hospital | Duiverman E.J.,Beatrix Childrens Hospital | And 3 more authors.
American Journal of Respiratory and Critical Care Medicine | Year: 2013

Rationale: Pulmonary outcomes of moderate-preterm children (MP) are unknown. Objectives: To investigate the prevalence of respiratory symptoms during infancy and at preschool age of MP compared with full-term (FT) and early pretermchildren (EP) and to determine factors associated with respiratory symptoms of MP at school age. Methods: Prospective cohort study. Outcome variables: number of rehospitalizations caused by respiratory problems, prevalence of respiratory symptoms determined by ISAAC Questionnaires, and factors associated with respiratory symptoms determined by univariate and multivariate analyzes. Measurements and Main Results: A total of 988 MP, 551 EP, and 573 FT children were included. The number of hospitalizations caused by respiratory problems during the first year of life was doubled in MP compared with FT (6% vs. 3%; P < 0.001). At preschool age, compared with FT, MP reported more cough or wheeze during a cold (63% vs. 50%; P < 0.001); cough or wheeze without a cold (23% vs. 15%; P = 0.001); nocturnal cough (33% vs. 26%; P = 0.005); dyspnea (8% vs. 4%; P = 0.011); and use of medication (inhaled steroids, 9% vs. 6%; P = 0.042) (antibiotics, 12% vs. 7%; P = 0.002). Factors associated with respiratory symptoms at 5 years among MP were respiratory problems, eczema, rehospitalization in infancy, passive smoking in infancy, family history of asthma, and higher social class. Multivariate analyzes showed the same results except for rehospitalization in infancy. Conclusions: MP have more respiratory symptoms than FT during early childhood. Factors associated with respiratory symptoms at school age are early respiratory problems, family history of asthma, higher social class, and passive smoking. Copyright © 2013 by the American Thoracic Society. Source


Sie M.,Beatrix Childrens Hospital | De Bont E.S.J.M.,Beatrix Childrens Hospital | Scherpen F.J.G.,Beatrix Childrens Hospital | Hoving E.W.,University of Groningen
Neuropathology and Applied Neurobiology | Year: 2010

Aims: Pilocytic astrocytomas are the most frequent brain tumours in children. Because of their high vascularity, this study aimed to obtain insights into potential angiogenic related therapeutic targets in these tumours by characterization of the vasculature and the angiogenic profile. In this study 59 paediatric pilocytic astrocytomas were compared with 62 adult glioblastomas, as a prototype of tumour angiogenesis. Methods: Microvessel density, vessel maturity in terms of basement membrane and pericyte coverage, and turnover of both endothelial and tumour cells, and vascular endothelial growth factor (VEGF) expression were evaluated in tumour tissue, immunohistochemically stained with, respectively, CD34, collagen IV, smooth muscle actin, Ki67/CD34, caspase-3/CD34 and VEGF(-A-D). As an indicator for vessel stability the angiopoietin (ANGPT)-1/ANGPT-2 balance was calculated using Real Time RT-PCR. Results: Pilocytic astrocytoma and glioblastoma showed similar fractions of vessels covered with basement membrane and pericytes. Overlapping ANGPT-1/ANGPT-2 balance and VEGF-A expression were found. Pilocytic astrocytoma had fewer but wider vessels compared with glioblastoma. Turnover of endothelial and tumour cells were relatively lower in pilocytic astrocytoma. Within pilocytic astrocytoma, higher ANGPT-1/ANGPT-2 balance was correlated with fewer apoptotic endothelial cells. Lower numbers of vessels were correlated with higher VEGF-A expression. Conclusions: Despite the fact that pilocytic astrocytoma showed a different vessel architecture compared with glioblastoma, a critical overlap in vessel immaturity/instability and the angiogenic profile was seen between both tumours. These findings suggest encouraging possibilities for targeting angiogenesis (for instance with anti-VEGF) as a therapeutic strategy in pilocytic astrocytoma. © 2010 The Authors. Neuropathology and Applied Neurobiology © 2010 British Neuropathological Society. Source

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