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3. The clinical relevance of intragenic NRXN1 deletions

Author

Cosemans, Nele, primary, Vandenhove, Laura, additional, Vogels, Annick, additional, Devriendt, Koenraad, additional, Van Esch, Hilde, additional, Van Buggenhout, Griet, additional, Olivié, Hilde, additional, de Ravel, Thomy, additional, Ortibus, Els, additional, Legius, Eric, additional, Aerssens, Peter, additional, Breckpot, Jeroen, additional, R. Vermeesch, Joris, additional, Shen, Sanbing, additional, Fitzgerald, Jacqueline, additional, Gallagher, Louise, additional, and Peeters, Hilde, additional

Published
2020
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4. An Overview of L-2-Hydroxyglutarate Dehydrogenase Gene (L2HGDH) Variants: A Genotype–Phenotype Study

Author

Steenweg, Marjan E., Jakobs, Cornelis, Errami, Abdellatif, van Dooren, Silvy J.M., Adeva Bartolomé, Maria T., Aerssens, Peter, Augoustides-Savvapoulou, Persephone, Baric, Ivo, Baumann, Matthias, Bonafé, Luisa, Chabrol, Brigitte, Clarke, Joe T.R., Clayton, Peter, Coker, Mahmut, Cooper, Sarah, Falik-Zaccai, Tzipora, Gorman, Mark, Hahn, Andreas, Hasanoglu, Alev, King, Mary D., de Klerk, Hans B.C., Korman, Stanley H., Lee, Céline, Meldgaard Lund, Allan, Mejaški-Bošnjak, Vlatka, Pascual-Castroviejo, Ignacio, Raadhyaksha, Aparna, Rootwelt, Terje, Roubertie, Agathe, Ruiz-Falco, Maria L., Scalais, Emmanuel, Schimmel, Ulf, Seijo-Martinez, Manuel, Suri, Mohnish, Sykut-Cegielska, Jolanta, Trefz, Friedrich K., Uziel, Graziella, Valayannopoulos, Vassili, Vianey-Saban, Christine, Vlaho, Stefan, Vodopiutz, Julia, Wajner, Moacir, Walter, John, Walter-Derbort, Claudia, Yapici, Zuhal, Zafeiriou, Dimitrios I., Spreeuwenberg, Marieke D., Celli, Jacopo, Dunnen, Johan T. den, der Knaap, Marjo S. van, and Salomons, Gajja S.

Published
2010
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7. Signs and symptoms in children with a serious infection: a qualitative study

Author

Aerssens Peter, Vermeire Etienne, Bruyninckx Rudi, Van den Bruel Ann, Aertgeerts Bert, and Buntinx Frank

Subjects
Medicine (General), R5-920
Abstract

Abstract Background Early diagnosis of serious infections in children is difficult in general practice, as incidence is low, patients present themselves at an early stage of the disease and diagnostic tools are limited to signs and symptoms from observation, clinical history and physical examination. Little is known which signs and symptoms are important in general practice. With this qualitative study, we aimed to identify possible new important diagnostic variables. Methods Semi-structured interviews with parents and physicians of children with a serious infection. We investigated all signs and symptoms that were related to or preceded the diagnosis. The analysis was done according to the grounded theory approach. Participants were recruited in general practice and at the hospital. Results 18 children who were hospitalised because of a serious infection were included. On average, parents and paediatricians were interviewed 3 days after admittance of the child to hospital, general practitioners between 5 and 8 days after the initial contact. The most prominent diagnostic signs in seriously ill children were changed behaviour, crying characteristics and the parents' opinion. Children either behaved drowsy or irritable and cried differently, either moaning or an inconsolable, loud crying. The parents found this illness different from previous illnesses, because of the seriousness or duration of the symptoms, or the occurrence of a critical incident. Classical signs, like high fever, petechiae or abnormalities at auscultation were helpful for the diagnosis when they were present, but not helpful when they were absent. Conclusion behavioural signs and symptoms were very prominent in children with a serious infection. They will be further assessed for diagnostic accuracy in a subsequent, quantitative diagnostic study.

Published
2005
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10. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

Author

Steenweg, Marjan E, Jakobs, Cornelis, Errami, Abdellatif, van Dooren, Silvy J M, Adeva Bartolomé, Maria T, Aerssens, Peter, Augoustides-Savvapoulou, Persephone, Baric, Ivo, Baumann, Matthias, Bonafé, Luisa, Chabrol, Brigitte, Clarke, Joe T R, Clayton, Peter, Coker, Mahmut, Cooper, Sarah, Falik-Zaccai, Tzipora, Gorman, Mark, Hahn, Andreas, Hasanoglu, Alev, King, Mary D, de Klerk, Hans B C, Korman, Stanley H, Lee, Céline, Meldgaard Lund, Allan, Mejaski-Bosnjak, Vlatka, Pascual-Castroviejo, Ignacio, Raadhyaksha, Aparna, Rootwelt, Terje, Roubertie, Agathe, Ruiz-Falco, Maria L, Scalais, Emmanuel, Schimmel, Ulf, Seijo-Martinez, Manuel, Suri, Mohnish, Sykut-Cegielska, Jolanta, Trefz, Friedrich K, Uziel, Graziella, Valayannopoulos, Vassili, Vianey-Saban, Christine, Vlaho, Stefan, Vodopiutz, Julia, Wajner, Moacir, Walter, John, Walter-Derbort, Claudia, Yapici, Zuhal, Zafeiriou, Dimitrios I, Spreeuwenberg, Marieke D, Celli, Jacopo, den Dunnen, Johan T, van der Knaap, Marjo S, Salomons, Gajja S, Steenweg, Marjan E, Jakobs, Cornelis, Errami, Abdellatif, van Dooren, Silvy J M, Adeva Bartolomé, Maria T, Aerssens, Peter, Augoustides-Savvapoulou, Persephone, Baric, Ivo, Baumann, Matthias, Bonafé, Luisa, Chabrol, Brigitte, Clarke, Joe T R, Clayton, Peter, Coker, Mahmut, Cooper, Sarah, Falik-Zaccai, Tzipora, Gorman, Mark, Hahn, Andreas, Hasanoglu, Alev, King, Mary D, de Klerk, Hans B C, Korman, Stanley H, Lee, Céline, Meldgaard Lund, Allan, Mejaski-Bosnjak, Vlatka, Pascual-Castroviejo, Ignacio, Raadhyaksha, Aparna, Rootwelt, Terje, Roubertie, Agathe, Ruiz-Falco, Maria L, Scalais, Emmanuel, Schimmel, Ulf, Seijo-Martinez, Manuel, Suri, Mohnish, Sykut-Cegielska, Jolanta, Trefz, Friedrich K, Uziel, Graziella, Valayannopoulos, Vassili, Vianey-Saban, Christine, Vlaho, Stefan, Vodopiutz, Julia, Wajner, Moacir, Walter, John, Walter-Derbort, Claudia, Yapici, Zuhal, Zafeiriou, Dimitrios I, Spreeuwenberg, Marieke D, Celli, Jacopo, den Dunnen, Johan T, van der Knaap, Marjo S, and Salomons, Gajja S

Abstract

L-2-Hydroxyglutaric aciduria (L2HGA) is a rare, neurometabolic disorder with an autosomal recessive mode of inheritance. Affected individuals only have neurological manifestations, including psychomotor retardation, cerebellar ataxia, and more variably macrocephaly, or epilepsy. The diagnosis of L2HGA can be made based on magnetic resonance imaging (MRI), biochemical analysis, and mutational analysis of L2HGDH. About 200 patients with elevated concentrations of 2-hydroxyglutarate (2HG) in the urine were referred for chiral determination of 2HG and L2HGDH mutational analysis. All patients with increased L2HG (n=106; 83 families) were included. Clinical information on 61 patients was obtained via questionnaires. In 82 families the mutations were detected by direct sequence analysis and/or multiplex ligation dependent probe amplification (MLPA), including one case where MLPA was essential to detect the second allele. In another case RT-PCR followed by deep intronic sequencing was needed to detect the mutation. Thirty-five novel mutations as well as 35 reported mutations and 14 nondisease-related variants are reviewed and included in a novel Leiden Open source Variation Database (LOVD) for L2HGDH variants (http://www.LOVD.nl/L2HGDH). Every user can access the database and submit variants/patients. Furthermore, we report on the phenotype, including neurological manifestations and urinary levels of L2HG, and we evaluate the phenotype-genotype relationship.

Published
2010

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