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3. E-book: Neonatologie - Uitgave 2022

Author

Monbailliu, E., primary, Schelstraete, P., additional, Bonte, K., additional, Vercruysse, T., additional, Verbeke, L., additional, Kamoen, K., additional, Aeyels, L., additional, Veramme, J., additional, De Cono, N., additional, Devocht, B., additional, Smets, K., additional, Garabedian, L., additional, Van De Wielle, R., additional, and Clarysse, A., additional

Published
2022
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5. Archivos en construcción, comunidades vulnerables y migración: transferencia e investigación innovadora en proyectos y asociaciones audiovisuales [Archives-in-the-Making, Vulnerable Communities and Migration: Outreach and Innovative Scholarship in Audiovisual-Based Research Projects and Associations]

Author

Al Kalak, M., Almenara Niebla, S., Damiens, A., Fernández Labayen, M., Gatta, G., Gutiérrez, I., Marchessault, J., O’Sullivan, S., Oroz, E., Smets, K., Soberon, L., Triulzi, A., and Zryd, M.

Subjects
memory, Settore SPS/08 - Sociologia dei Processi Culturali e Comunicativi, archive, migration, Settore SPS/07 - Sociologia Generale
Published
2022

10. Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C

Author

Dermaut, B., Seneca, S., Dom, L., Smets, K., Ceulemans, L., Smet, J., De Paepe, B., Tousseyn, S., Weckhuysen, S., Gewillig, M., Pals, P., Parizel, P., De Bleecker, J.L., Boon, P., De Meirleir, L., De Jonghe, P., Van Coster, R., Van Paesschen, W., and Santens, P.

Subjects
Leigh disease -- Genetic aspects, Leigh disease -- Research, Myoclonic epilepsy -- Genetic aspects, Myoclonic epilepsy -- Research, Mitochondrial DNA -- Research, Gene mutations -- Research, Health, Psychology and mental health
Published
2010

16. The External Genitalia Score (EGS): A European Multicenter Validation Study

Author

van der Straaten, S. (Saskia), Springer, A. (Alexander), Zecic, A. (Alexandra), Hebenstreit, D. (Doris), Tonnhofer, U. (Ursula), Gawlik, A. (Aneta), Baumert, M. (Malgorzata), Szeliga, K. (Kamila), Debulpaep, S. (Sara), Desloovere, A. (An), Tack, L. (Lloyd), Smets, K. (Koen), Wasniewska, M. (Malgorzata), Corica, D. (Domenico), Calafiore, M. (Mariarosa), Ljubicic, M.L. (Marie Lindhardt), Busch, A.S. (Alexander Siegfried), Juul, A. (Anders), Nordenström, A. (Anna), Sigurdsson, J. (Jon), Flück, C. (Christa), Haamberg, T. (Tanja), Graf, S. (Stefanie), Hannema, S.E. (Sabine), Wolffenbuttel, K.P. (Katja), Hiort, O. (Olaf), Ahmed, S.F. (Sayed), Cools, M.B.C.M. (Martine), van der Straaten, S. (Saskia), Springer, A. (Alexander), Zecic, A. (Alexandra), Hebenstreit, D. (Doris), Tonnhofer, U. (Ursula), Gawlik, A. (Aneta), Baumert, M. (Malgorzata), Szeliga, K. (Kamila), Debulpaep, S. (Sara), Desloovere, A. (An), Tack, L. (Lloyd), Smets, K. (Koen), Wasniewska, M. (Malgorzata), Corica, D. (Domenico), Calafiore, M. (Mariarosa), Ljubicic, M.L. (Marie Lindhardt), Busch, A.S. (Alexander Siegfried), Juul, A. (Anders), Nordenström, A. (Anna), Sigurdsson, J. (Jon), Flück, C. (Christa), Haamberg, T. (Tanja), Graf, S. (Stefanie), Hannema, S.E. (Sabine), Wolffenbuttel, K.P. (Katja), Hiort, O. (Olaf), Ahmed, S.F. (Sayed), and Cools, M.B.C.M. (Martine)

Abstract

CONTEXT: Standardized description of external genitalia is needed in the assessment of children with atypical genitalia. OBJECTIVES: To validate the External Genitalia Score (EGS), to present reference values for preterm and term babies up to 24 months and correlate obtained scores with anogenital distances (AGDs). DESIGN, SETTING: A European multicenter (n = 8) validation study was conducted from July 2016 to July 2018. PATIENTS AND METHODS: EGS is based on the external masculinization score but uses a gradual scale from female to male (range, 0-12) and terminology appropriate for both sexes. The reliability of EGS and AGDs was determined by the interclass correlation coefficient (ICC). Cross-sectional data were obtained in 686 term babies (0-24 months) and 181 preterm babies, and 111 babies with atypical genitalia. RESULTS: The ICC of EGS in typical and atypical genitalia is excellent and good, respectively. Median EGS (10th to 90th centile) in males < 28 weeks gestation is 10 (8.6-11.5); in males 28-32 weeks 11.5 (9.2-12); in males 33-36 weeks 11.5 (10.5-12) and in full-term males 12 (10.5-12). In all female babies, EGS is 0 (0-0). The mean (SD) lower/upper AGD ratio (AGDl/u) is 0.45 (0.1), with significant difference between AGDl/u in males 0.49 (0.1) and females 0.39 (0.1) and intermediate values in differences of sex development (DSDs) 0.43 (0.1). The AGDl/u correlates with EGS in males with typical genitalia and in atypical genitalia. CONCLUSIONS: EGS is a reliable and valid tool to describe external genitalia in premature and term babies up to 24 months. EGS correlates with AGDl/u in males. It facilitates standardized assessment, clinical decision-making and multicenter research.

Published
2020
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17. The External Genitalia Score (EGS): A European Multicenter Validation Study

Author

Van Der Straaten, S, Springer, A, Zecic, A, Hebenstreit, D, Tonnhofer, U, Gawlik, A, Baumert, M, Szeliga, K, Debulpaep, S, Desloovere, A, Tack, L, Smets, K, Wasniewska, M, Corica, D, Calafiore, M, Ljubicic, ML, Busch, AS, Juul, A, Nordenström, A, Sigurdsson, J, Flück, CE, Haamberg, T, Graf, S, Hannema, Sabine, Wolffenbuttel, Katja, Hiort, O, Ahmed, SF, Cools, M (Martine), Van Der Straaten, S, Springer, A, Zecic, A, Hebenstreit, D, Tonnhofer, U, Gawlik, A, Baumert, M, Szeliga, K, Debulpaep, S, Desloovere, A, Tack, L, Smets, K, Wasniewska, M, Corica, D, Calafiore, M, Ljubicic, ML, Busch, AS, Juul, A, Nordenström, A, Sigurdsson, J, Flück, CE, Haamberg, T, Graf, S, Hannema, Sabine, Wolffenbuttel, Katja, Hiort, O, Ahmed, SF, and Cools, M (Martine)

Published
2020

22. The ESRF dark-field x-ray microscope at ID06

Author

Kutsal, M., Bernard, P., Berruyer, G., Cook, P. K., Hino, R., Jakobsen, A. C., Ludwig, W., Ormstrup, Jeppe, Roth, T., Simons, Hugh, Smets, K., Sierra, J. X., Wade, J., Wattecamps, P., Yildirim, C., Poulsen, Henning Friis, and Detlefs, C.

Abstract

We present an instrument for dark-field x-ray microscopy installed on beamlineID06 of the ESRF — the first of its kind. Dark-field x-ray microscopy uses full field illumination of the sample and provides three-dimensional (3D) mapping of micro-structure and lattice strain in crystalline matter. It is analogous to dark-field electron microscopy in that an objective lens magnifies diffracting features of the sample. The use of high-energy synchrotron x-rays, however, means that these features can be large and deeply embedded. 3D movies can be acquired with a time resolution of seconds to minutes. The field of view and spatial resolution can be adapted by simple reconfiguration of the x-ray objective lens, reaching spatial and angular resolution of 30-100 nm and 0.001°, respectively. The instrument furthermore allows pre-characterization of samples at larger length scales using 3DXRD or DCT, such that a region of interest (e.g. a singlegrain) can be selected for high-resolution studies without the need to dismount the sample. As examples of applications we show work on mapping the subgrains in plastically deformed iron and aluminum alloys, mapping domains and strain fields in ferroelectric crystals, and studies of biominerals. This ability to directly characterize complex, multi-scale phenomena in-situ is a key step towards formulating and validating multi-scale models that account for the entire heterogeneity of materials. As an outlook, we discuss future prospects for such multi-scale characterization by combining DFXM with 3DXRD/DCT, and coherent x-ray methods for coarser and finer length-scales, respectively.

Published
2019

25. Dose rationale and pharmacokinetics of dexmedetomidine in mechanically ventilated new-borns: impact of design optimisation

Author

van Dijkman, S.C., de Cock, P., Smets, K., Decaluwe, W., Smits, A, Allegaert, K.M. (Karel), van der Walle, J., Paepe, P., Della Pasqua, O. (Oscar), van Dijkman, S.C., de Cock, P., Smets, K., Decaluwe, W., Smits, A, Allegaert, K.M. (Karel), van der Walle, J., Paepe, P., and Della Pasqua, O. (Oscar)

Abstract

Purpose There is a need for alternative analgosedatives such as dexmedetomidine in neonates. Given the ethical and practical difficulties, protocol design for clinical trials in neonates should be carefully considered before implementation. Our objective was to identify a protocol design suitable for subsequent evaluation of the dosing requirements for dexmedetomidine in mechanically ventilated neonates. Methods A published paediatric pharmacokinetic model was used to derive the dosing regimen for dexmedetomidine in a firstin-neonate study. Optimality criteria were applied to optimise the blood sampling schedule. The impact of sampling schedule optimisation on model parameter estimation was assessed by simulation and re-estimation procedures for different simulation scenarios. The optimised schedule was then implemented in a neonatal pilot study. Results Parameter estimates were more precise and similarly accurate in the optimised scenarios, as compared to empirical sampling (normalised root mean square error: 1673.1% vs. 13,229.4% and relative error: 46.4% vs. 9.1%). Most importantly, protocol deviations from the optimal design still allowed reasonable parameter estimation. Data analysis from the pilot group (n = 6) confirmed the adequacy of the optimised trial protocol. Dexmedetomidine pharmacokinetics in term neonates was scaled using allometry and maturation, but results showed a 20% higher clearance in this population compared to initial estimates obtained by extrapolation from a slightly older paediatric population. Clearance for a typical neonate, with a post-menstrual age (PMA) of 40 weeks and weight 3.4 kg, was 2.92 L/h. Extension of the study with 11 additional subjects showed a further increased clearance in pre-term subjects with lower PMA. Conclusions The use of optimal design in conjunction with simulation scenarios improved the accuracy and precision of the estimates of the parameters of interest, taking into account protocol deviations, whic

Published
2019
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33. The ESRF dark-field x-ray microscope at ID06

Author

Kutsal, M, primary, Bernard, P, additional, Berruyer, G, additional, Cook, P K, additional, Hino, R, additional, Jakobsen, A C, additional, Ludwig, W, additional, Ormstrup, J, additional, Roth, T, additional, Simons, H, additional, Smets, K, additional, Sierra, J X, additional, Wade, J, additional, Wattecamps, P, additional, Yildirim, C, additional, Poulsen, H F, additional, and Detlefs, C, additional

Published
2019
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34. Understanding the images of Alan Kurdi with 'small data'

Author

Cigdem Bozdag, Smets, K., ECHO: Research group on media, culture and politics, Communication Sciences, and Bozdağ Bucak, Çiğdem

Subjects
Social media, Belgium, Turkey, Communication, Twitter, Flanders, Qualitative content analysis, Alan Kurdi, refugees
Abstract

One of the peak moments of the debate on the European refugee crisis was caused by the circulation of images of Alan Kurdi, a three-year-old Syrian boy who drowned in the Aegean Sea on September 2, 2015. The images triggered worldwide reactions from politicians, nongovernmental organizations, and citizens. This article analyzes these reactions through a qualitative study of 961 tweets from Turkey and Flanders (Belgium), contextualizing them into the framing and representation of refugees before and after the images were released. Our study finds that, despite their iconic qualities and potential to mobilize Twitter users around refugee issues, the images did not cause a major shift in common discourses and representations. Instead, references to Kurdi were incorporated into preexisting discourses on and representations of refugees, thus offering different actors in the public debate on refugees with new symbols and motifs to construct meaning.

Published
2017

38. Exon-disrupting deletions ofNRXN1in idiopathic generalized epilepsy

Author

Møller, R.S., Weber, Y.G., Klitten, L.L., Trucks, H., Muhle, H., Kunz, W.S., Mefford, H.C., Franke, A., Kautza, M., Wolf, P., Dennig, D., Schreiber, S., Rückert, I.M., Wichmann, H.E., Ernst, J.P., Schurmann, C., Grabe, H.J., Tommerup, N., Stephani, U., Lerche, H., Hjalgrim, H., Helbig, I., Sander, T., Zimprich, F., Mörzinger, M., Feucht, M., Suls, A., Weckhuysen, S., Claes, L., Deprez, L., Smets, K., Van Dyck, T., Deconinck, T., De Jonghe, P., Velizarova, R., Dimova, P., Radionova, M., Tournev, I., Kancheva, D., Kaneva, R., Jordanova, A., Kjelgaard, D.B., Lehesjoki, A.E., Siren, A., Baulac, S., Leguern, E., Von Spiczak, S., Ostertag, P., Leber, M., Leu, C., Toliat, M.R., Nürnberg, P., Hempelmann, A., Rüschendorf, F., Elger, C.E., Kleefuß Lie, A.A., Surges, R., Gaus, V., Janz, D., Schmitz, B., Klein, K.M., Reif, P.S., Oertel, W.H., Hamer, H.M., Rosenow, F., Becker, F., Marini, C., Guerrini, R., Mei, D., Norci, V., Zara, F., Striano, P., Robbiano, A., Pezzella, M., Bianchi, A., Gambardella, A., Tinuper, P., La Neve, A., Capovilla, G., Vigliano, P., Crichiutti, G., Vanadia, F., Vignoli, A., Coppola, A., Striano, S., Giallonardo, M.T., Franceschetti, S., Belcastro, V., Benna, P., Coppola, G., De Palo, A., Ferlazzo, E., Vecchi, M., Martinelli, V., Bisulli, F., Beccaria, F., Del Giudice, E., Mancardi, M., Stranci, G., Scabar, A., Gobbi, G., Giordano, I., Koeleman, B.P.C., De Kovel, C., Lindhout, D., De Haan, G.J., Ozbeck, U., Bebek, N., Baykan, B., Ozdemir, O., Ugur, S., Kocasoy Orhan, E., Yücesan, E., Cine, N., Gokyigit, A., Gurses, C., Gul, G., Yapici, Z., Ozkara, C., Caglayan, H., Yalcin, O., Yalcin, D., Turkdogan, D., Dizdarer, G., Agan, K., R. S. Møller, Y. G. Weber, L. L. Klitten, H. Truck, H. Muhle, W. S. Kunz, H. C. Mefford, A. Franke, M. Kautza, P. Wolf, D. Dennig, S. Schreiber, I. Rückert, H. Wichmann, J. P. Ernst, C. Schurmann, H. J. Grabe, N. Tommerup, U. Stephani, H. Lerche, H. Hjalgrim, I. Helbig, T. Sander, P. Tinuper, F. Bisulli, EPICURE Consortium, Suls, Arvid, Weckhuysen, Sarah, Claes, Godelieve, Deprez, Liesbet, Smets, Katrien, Van Dyck, Tine, Deconinck, Tine, De Jonghe, Peter, Jordanova, Albena, Møller, R, Weber, Yg, Klitten, Ll, Trucks, H, Muhle, H, Kunz, W, Mefford, Hc, Franke, A, Kautza, M, Wolf, P, Dennig, D, Schreiber, S, Rückert, Im, Wichmann, He, Ernst, Jp, Schurmann, C, Grabe, Hj, Tommerup, N, Stephani, U, Lerche, H, Hjalgrim, H, Helbig, I, Sander, T, Epicure, Consortium, DEL GIUDICE, Ennio, Coppola, Antonietta, and YÜCESAN, EMRAH

Subjects
Male, Idiopathic generalized epilepsy, Neuronal, Idiopathic Generalized Epilepsy, 1q21, 1 Microdeletion, Two-hit Hypothesis, Nrxn1, Neuropsychological Tests, Immunoglobulin E, Cell Adhesion Molecules, Neuronal/genetics, Adult, Age of Onset, Anticonvulsant, Exon, 1q21.1 microdeletion, Exons/genetics, Odds Ratio, Nerve Tissue Proteins/genetics, Copy-number variation, Valproic Acid/therapeutic use, Age of Onset, Neural Cell Adhesion Molecules, genetics, DNA Copy Number Variations, Electroencephalography, Epilepsy, Genetics, biology, Triazines, Anticonvulsants/therapeutic use, Electroencephalography, genetics, Family, Female, Fructose, Exons, Middle Aged, Settore MED/39 - Neuropsichiatria Infantile, Pedigree, therapeutic use, Valproic Acid, Neurology, Settore MED/26 - Neurologia, Anticonvulsants, Epilepsy, Generalized, Female, Adult, Case-Control Studies, Cell Adhesion Molecules, Neuronal, DNA Copy Number Variations, Family, Fructose, Gene Deletion, Genotype, Humans, Infant, Microarray Analysis, Nerve Tissue Proteins, Valproic Acid, analogs /&/ derivatives/therapeutic use, Gene Deletion, Genotype, Humans, Infant, Male, Microarray Analysis, Middle Aged, Nerve Tissue Protein, therapeutic use, Case-Control Studies, Cell Adhesion Molecule, drug therapy/genetics/psychology, Exon, genetics, Neuropsychological Tests, Odds Ratio, Pedigree, Triazine, Lamotrigine, NRXN1, Topiramate, Epilepsy, Generalized/drug therapy, medicine, Allele, Biology, Gene, Generalized, Point mutation, Calcium-Binding Proteins, Odds ratio, medicine.disease, Triazines/therapeutic use, Settore MED/03 - Genetica Medica, therapeutic use, biology.protein, Fructose/analogs & derivatives, Human medicine, Neurology (clinical), Two-hit hypothesis
Abstract

Summary Purpose Neurexins are neuronal adhesion molecules located in the presynaptic terminal, where they interact with postsynaptic neuroligins to form a transsynaptic complex required for efficient neurotransmission in the brain. Recently, deletions and point mutations of the neurexin 1 (NRXN1) gene have been associated with a broad spectrum of neuropsychiatric disorders. This study aimed to investigate if NRXN1 deletions also increase the risk of idiopathic generalized epilepsies (IGEs). Methods We screened for deletions involving the NRXN1 gene in 1,569 patients with IGE and 6,201 controls using high-density oligonucleotide microarrays. Key Findings We identified exon-disrupting deletions of NRXN1 in 5 of 1,569 patients with IGE and 2 of 6,201 control individuals (p = 0.0049; odds ratio (OR) 9.91, 95% confidence interval (CI) 1.92–51.12). A complex familial segregation pattern in the IGE families was observed, suggesting that heterozygous NRXN1 deletions are susceptibility variants. Intriguingly, we identified a second large copy number variant in three of five index patients, supporting an involvement of heterogeneous susceptibility alleles in the etiology of IGE. Significance We conclude that exon-disrupting deletions of NRXN1 represent a genetic risk factor in the genetically complex predisposition of common IGE syndromes.

Published
2013

39. Erratum: Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy (Epilepsia (2013) 54 (256-264) DOI:10.1111/epi.12517)

Author

Møller, R. S., Weber, Y. G., Klitten, L. L., Trucks, H., Muhle, H., Kunz, W. S., Mefford, H. C., Franke, A., Kautza, M., Wolf, P., Dennig, D., Schreiber, S., Rückert, I. -M., Wichmann, H. -E., Ernst, J. P., Schurmann, C., Grabe, H. J., Tommerup, N., Stephani, U., Lerche, H., Hjalgrim, H., Helbig, I., Sander, T., Zimprich, F., Mörzinger, M., Feucht, M., Suls, A., Weckhuysen, S., Claes, L., Deprez, L., Smets, K., Van Dyck, T., Deconinck, T., De Jonghe, P., Velizarova, R., Dimova, P., Radionova, M., Tournev, I., Kancheva, D., Kaneva, R., Jordanova, A., Kjelgaard, D. B., Lehesjoki, A. -E., Siren, A., Baulac, S., Leguern, E., Von Spiczak, S., Ostertag, P., Leber, M., Leu, C., Toliat, M. R., Nürnberg, P., Hempelmann, A., Rüschendorf, F., Elger, C. E., Kleefuß-Lie, A. A., Surges, R., Gaus, V., Janz, D., Schmitz, B., Klein, K. M., Reif, P. S., Oertel, W. H., Hamer, H. M., Rosenow, F., Becker, F., Marini, C., Guerrini, R., Mei, D., Norci, V., Zara, F., Striano, P., Robbiano, A., Pezzella, M., Bianchi, A., Gambardella, A., Tinuper, P., La Neve, A., Capovilla, G., Vigliano, P., Crichiutti, G., Vanadia, F., Vignoli, A., Coppola, A., Striano, S., Giallonardo, M. T., Franceschetti, S., Belcastro, V., Benna, P., Coppola, G., De Palo, A., Ferlazzo, E., Vecchi, M., Martinelli, V., Bisulli, F., Beccaria, F., Del Giudice, E., Mancardi, M., Stranci, G., Scabar, A., Gobbi, G., Giordano, I., Koeleman, B. P. C., De Kovel, C., Lindhout, D., De Haan, G. -J., Ozbeck, U., Bebek, N., Baykan, B., Ozdemir, O., Ugur, S., Kocasoy-Orhan, E., Yücesan, E., Cine, N., Gokyigit, A., Gurses, C., Gul, G., Yapici, Z., Ozkara, C., Caglayan, H., Yalcin, O., Yalcin, D., Turkdogan, D., Dizdarer, G., Agan, K., Møller, R. S., Weber, Y. G., Klitten, L. L., Trucks, H., Muhle, H., Kunz, W. S., Mefford, H. C., Franke, A., Kautza, M., Wolf, P., Dennig, D., Schreiber, S., Rückert, I. -M., Wichmann, H. -E., Ernst, J. P., Schurmann, C., Grabe, H. J., Tommerup, N., Stephani, U., Lerche, H., Hjalgrim, H., Helbig, I., Sander, T., Zimprich, F., Mörzinger, M., Feucht, M., Suls, A., Weckhuysen, S., Claes, L., Deprez, L., Smets, K., Van Dyck, T., Deconinck, T., De Jonghe, P., Velizarova, R., Dimova, P., Radionova, M., Tournev, I., Kancheva, D., Kaneva, R., Jordanova, A., Kjelgaard, D. B., Lehesjoki, A. -E., Siren, A., Baulac, S., Leguern, E., Von Spiczak, S., Ostertag, P., Leber, M., Leu, C., Toliat, M. R., Nürnberg, P., Hempelmann, A., Rüschendorf, F., Elger, C. E., Kleefuß-Lie, A. A., Surges, R., Gaus, V., Janz, D., Schmitz, B., Klein, K. M., Reif, P. S., Oertel, W. H., Hamer, H. M., Rosenow, F., Becker, F., Marini, C., Guerrini, R., Mei, D., Norci, V., Zara, F., Striano, P., Robbiano, A., Pezzella, M., Bianchi, A., Gambardella, A., Tinuper, P., La Neve, A., Capovilla, G., Vigliano, P., Crichiutti, G., Vanadia, F., Vignoli, A., Coppola, A., Striano, S., Giallonardo, M. T., Franceschetti, S., Belcastro, V., Benna, P., Coppola, G., De Palo, A., Ferlazzo, E., Vecchi, M., Martinelli, V., Bisulli, F., Beccaria, F., Del Giudice, E., Mancardi, M., Stranci, G., Scabar, A., Gobbi, G., Giordano, I., Koeleman, B. P. C., De Kovel, C., Lindhout, D., De Haan, G. -J., Ozbeck, U., Bebek, N., Baykan, B., Ozdemir, O., Ugur, S., Kocasoy-Orhan, E., Yücesan, E., Cine, N., Gokyigit, A., Gurses, C., Gul, G., Yapici, Z., Ozkara, C., Caglayan, H., Yalcin, O., Yalcin, D., Turkdogan, D., Dizdarer, G., and Agan, K.

Published
2013

40. Perinatale aanpak bij congenitale luchtwegmalformaties

Author

null VANHAESEBROUCK P, null DEFOORT P, null SMETS K, null VERMEERSCH H, null MEERSSCHAUT V, null GOOSSENS L, null VAN DAELE S, null DE BAETS F, and null TEMMERMAN M

Subjects
General Medicine
Published
2006

42. A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

Author

Beunders, G., Kamp, J. van der, Vasudevan, P., Morton, J., Smets, K., Kleefstra, T., Munnik, S.A. de, Schuurs-Hoeijmakers, J.H.M., Ceulemans, B., Zollino, M., Hoffjan, S., Wieczorek, S., So, J., Mercer, L., Walker, T., Velsher, L., Parker, M.J., Magee, A.C., Elffers, B., Kooy, R.F., Yntema, H.G., Meijers-Heijboer, E.J., Sistermans, E.A., Beunders, G., Kamp, J. van der, Vasudevan, P., Morton, J., Smets, K., Kleefstra, T., Munnik, S.A. de, Schuurs-Hoeijmakers, J.H.M., Ceulemans, B., Zollino, M., Hoffjan, S., Wieczorek, S., So, J., Mercer, L., Walker, T., Velsher, L., Parker, M.J., Magee, A.C., Elffers, B., Kooy, R.F., Yntema, H.G., Meijers-Heijboer, E.J., and Sistermans, E.A.

Abstract

Item does not contain fulltext, BACKGROUND: AUTS2 syndrome is an 'intellectual disability (ID) syndrome' caused by genomic rearrangements, deletions, intragenic duplications or mutations disrupting AUTS2. So far, 50 patients with AUTS2 syndrome have been described, but clinical data are limited and almost all cases involved young children. METHODS: We present a detailed clinical description of 13 patients (including six adults) with AUTS2 syndrome who have a pathogenic mutation or deletion in AUTS2. All patients were systematically evaluated by the same clinical geneticist. RESULTS: All patients have borderline to severe ID/developmental delay, 83-100% have microcephaly and feeding difficulties. Congenital malformations are rare, but mild heart defects, contractures and genital malformations do occur. There are no major health issues in the adults; the oldest of whom is now 59 years of age. Behaviour is marked by it is a friendly outgoing social interaction. Specific features of autism (like obsessive behaviour) are seen frequently (83%), but classical autism was not diagnosed in any. A mild clinical phenotype is associated with a small in-frame 5' deletions, which are often inherited. Deletions and other mutations causing haploinsufficiency of the full-length AUTS2 transcript give a more severe phenotype and occur de novo. CONCLUSIONS: The 13 patients with AUTS2 syndrome with unique pathogenic deletions scattered around the AUTS2 locus confirm a phenotype-genotype correlation. Despite individual variations, AUTS2 syndrome emerges as a specific ID syndrome with microcephaly, feeding difficulties, dysmorphic features and a specific behavioural phenotype.

Published
2016

49. First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

Author

Smets, K., Duarri, A., Deconinck, T., Ceulemans, B., Warrenburg, B.P.C. van de, Zuchner, S., Gonzalez, M.A., Schule, R., Synofzik, M., Aa, N. van der, Jonghe, P. De, Verbeek, D.S., Baets, J., Smets, K., Duarri, A., Deconinck, T., Ceulemans, B., Warrenburg, B.P.C. van de, Zuchner, S., Gonzalez, M.A., Schule, R., Synofzik, M., Aa, N. van der, Jonghe, P. De, Verbeek, D.S., and Baets, J.

Abstract

Contains fulltext : 155287.pdf (publisher's version ) (Open Access), BACKGROUND: Identification of the first de novo mutation in potassium voltage-gated channel, shal-related subfamily, member 3 (KCND3) in a patient with complex early onset cerebellar ataxia in order to expand the genetic and phenotypic spectrum. METHODS: Whole exome sequencing in a cerebellar ataxia patient and subsequent immunocytochemistry, immunoblotting and patch clamp assays of the channel were performed. RESULTS: A de novo KCND3 mutation (c.877_885dupCGCGTCTTC; p.Arg293_Phe295dup) was found duplicating the RVF motif and thereby adding an extra positive charge to voltage-gated potassium 4.3 (Kv4.3) in the voltage-sensor domain causing a severe shift of the voltage-dependence gating to more depolarized voltages. The patient displayed a severe phenotype with early onset cerebellar ataxia complicated by intellectual disability, epilepsy, attention deficit hyperactivity disorder, strabismus, oral apraxia and joint hyperlaxity. CONCLUSIONS: We identified a de novo KCND3 mutation causing the most marked change in Kv4.3's channel properties reported so far, which correlated with a severe and unique spinocerebellar ataxia (SCA) type 19/22 disease phenotype.

Published
2015

50. Inter-rater reliability of AGREE II: need for refining the criteria?

Author

Goossens, M., Bekkering, G.E., Smets, K., Aertgeerts, B., Autrique, M., Van Royen, P., and Hannes, K.

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Background:In Belgium, evidence-based practice guidelines on the field of adolescent substance misuse are currently being developed, using the ADAPTE methodology. Guideline appraisal with the AGREE II instrument is one of its important steps. Context: Research preceding the launch of AGREE II confirmed[for full text, please go to the a.m. URL], G-I-N Conference 2012

Published
2012

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