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5. Additional file 1 of Multiple N-of-1 trials to investigate hypoxia therapy in Parkinson’s disease: study rationale and protocol

Author

Janssen Daalen, Jules M., Meinders, Marjan J., Giardina, Federica, Roes, Kit C. B., Stunnenberg, Bas C., Mathur, Soania, Ainslie, Philip N., Thijssen, Dick H. J., and Bloem, Bastiaan R.

Abstract

Additional file 1: Supplementary Table 1. Orientating questionnaire for respiratory problems in PD [Van de Wetering et al., submitted]. Supplementary Table 2. Stop criteria. Supplementary Table 3. Feasibility questionnaire, scored on 10-point Likert scale. Supplementary Figure 1. Summary of outcome measurements

Published
2022
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6. N-of-1 Trials in Neurology

Author

Stunnenberg, Bas C., primary, Berends, Joost, additional, Griggs, Robert C., additional, Statland, Jeffrey, additional, Drost, Gea, additional, Nikles, Jane, additional, Groenewoud, Hans, additional, van Engelen, Baziel G.M., additional, van der Wilt, Gert Jan, additional, and Raaphorst, Joost, additional

Published
2022
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9. N-of-1 trial of salbutamol in hyperkalaemic periodic paralysis

Author

Stunnenberg, Bas C, primary, Merkus, Esther C, additional, Raaphorst, Joost, additional, Saris, Christiaan GJ, additional, Groenewoud, Hans, additional, Statland, Jeffrey, additional, Weijma, Robyn, additional, van Vlijmen, Bas, additional, Griggs, Robert, additional, van Engelen, Baziel G M, additional, and van der Wilt, Gert Jan, additional

Published
2021
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10. Continued misuse of orphan drug legislation:a life-threatening risk for mexiletine

Author

Postema, Pieter G, Schwartz, Peter J, Arbelo, Elena, Bannenberg, Wilbert J, Behr, Elijah R, Belhassen, Bernard, Brugada, Josep, Brugada, Pedro, John Camm, A, Casado-Arroyo, Ruben, 't Hoen, Ellen, Hollak, Carla E M, Kääb, Stefan, Lambiase, Pier D, Leenhardt, Antoine, Priori, Silvia G, Probst, Vincent, Stunnenberg, Bas C, Tfelt-Hansen, Jacob, Van Engelen, Baziel G M, Veltmann, Christian, Viskin, Sami, Wilde, Arthur A M, Postema, Pieter G, Schwartz, Peter J, Arbelo, Elena, Bannenberg, Wilbert J, Behr, Elijah R, Belhassen, Bernard, Brugada, Josep, Brugada, Pedro, John Camm, A, Casado-Arroyo, Ruben, 't Hoen, Ellen, Hollak, Carla E M, Kääb, Stefan, Lambiase, Pier D, Leenhardt, Antoine, Priori, Silvia G, Probst, Vincent, Stunnenberg, Bas C, Tfelt-Hansen, Jacob, Van Engelen, Baziel G M, Veltmann, Christian, Viskin, Sami, and Wilde, Arthur A M

Published
2020

11. Guidelines on clinical presentation and management of nondystrophic myotonias

Author

Stunnenberg, Bas C., primary, LoRusso, Samantha, additional, Arnold, W. David, additional, Barohn, Richard J., additional, Cannon, Stephen C., additional, Fontaine, Bertrand, additional, Griggs, Robert C., additional, Hanna, Michael G., additional, Matthews, Emma, additional, Meola, Giovanni, additional, Sansone, Valeria A., additional, Trivedi, Jaya R., additional, van Engelen, Baziel G.M., additional, Vicart, Savine, additional, and Statland, Jeffrey M., additional

Published
2020
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13. Continued misuse of orphan drug legislation: a life-threatening risk for mexiletine

Author

Postema, Pieter G, primary, Schwartz, Peter J, additional, Arbelo, Elena, additional, Bannenberg, Wilbert J, additional, Behr, Elijah R, additional, Belhassen, Bernard, additional, Brugada, Josep, additional, Brugada, Pedro, additional, John Camm, A, additional, Casado-Arroyo, Ruben, additional, ‘t Hoen, Ellen, additional, Hollak, Carla E M, additional, Kääb, Stefan, additional, Lambiase, Pier D, additional, Leenhardt, Antoine, additional, Priori, Silvia G, additional, Probst, Vincent, additional, Stunnenberg, Bas C, additional, Tfelt-Hansen, Jacob, additional, Van Engelen, Baziel G M, additional, Veltmann, Christian, additional, Viskin, Sami, additional, and Wilde, Arthur A M, additional

Published
2020
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14. Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

Author

UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service d'oto-rhino-laryngologie, UCL - SSS/IREC/SLUC - Pôle St.-Luc, Westra, Dineke, Schouten, Meyke I., Stunnenberg, Bas C., Kusters, Benno, Saris, Christiaan G.J., Erasmus, Corrie E., van Engelen, Baziel G., Bulk, Saskia, Verschuuren-Bemelmans, Corien C., Gerkes, E.H., de Geus, Christa, van der Zwaag, P.A., Chan, Sophelia, Chung, Brian, Barge-Schaapveld, Daniela Q.C.M., Kriek, Marjolein, Sznajer, Yves, van Spaendonck-Zwarts, Karin, van der Kooi, Anneke J., Krause, Amanda, Schönewolf-Greulich, Bitten, de Die-Smulders, Christine, Sallevelt, Suzanne C.E.H., Krapels, Ingrid P.C., Rasmussen, Magnhild, Maystadt, Isabelle, Kievit, Anneke J.A., Witting, Nanna, Pennings, Maartje, Meijer, Rowdy, Gillissen, Christian, Kamsteeg, Erik-Jan, Voermans, Nicol C., UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service d'oto-rhino-laryngologie, UCL - SSS/IREC/SLUC - Pôle St.-Luc, Westra, Dineke, Schouten, Meyke I., Stunnenberg, Bas C., Kusters, Benno, Saris, Christiaan G.J., Erasmus, Corrie E., van Engelen, Baziel G., Bulk, Saskia, Verschuuren-Bemelmans, Corien C., Gerkes, E.H., de Geus, Christa, van der Zwaag, P.A., Chan, Sophelia, Chung, Brian, Barge-Schaapveld, Daniela Q.C.M., Kriek, Marjolein, Sznajer, Yves, van Spaendonck-Zwarts, Karin, van der Kooi, Anneke J., Krause, Amanda, Schönewolf-Greulich, Bitten, de Die-Smulders, Christine, Sallevelt, Suzanne C.E.H., Krapels, Ingrid P.C., Rasmussen, Magnhild, Maystadt, Isabelle, Kievit, Anneke J.A., Witting, Nanna, Pennings, Maartje, Meijer, Rowdy, Gillissen, Christian, Kamsteeg, Erik-Jan, and Voermans, Nicol C.

Abstract

Background: Neuromuscular disorders (NMDs) are clinically and genetically heterogeneous. Accurate molecular genetic diagnosis can improve clinical management, provides appropriate genetic counseling and testing of relatives, and allows potential therapeutic trials. Objective: To establish the clinical utility of panel-based whole exome sequencing (WES) in NMDs in a population with children and adults with various neuromuscular symptoms. Methods: Clinical exome sequencing, followed by diagnostic interpretation of variants in genes associated with NMDs, was performed in a cohort of 396 patients suspected of having a genetic cause with a variable age of onset, neuromuscular phenotype, and inheritance pattern. Many had previously undergone targeted gene testing without results. Results: Disease-causing variants were identified in 75/396 patients (19%), with variants in the three COL6-genes (COL6A1, COL6A2 and COL6A3) as the most common cause of the identified muscle disorder, followed by variants in the RYR1 gene. Together, these four genes account for almost 25% of cases in whom a definite genetic cause was identified. Furthermore, likely pathogenic variants and/or variants of uncertain significance were identified in 95 of the patients (24%), in whom functional and/or segregation analysis should be used to confirm or reject the pathogenicity. In 18% of the cases with a disease-causing variant of which we received additional clinical information, we identified a genetic cause in genes of which the associated phenotypes did not match that of the patients. Hence, the advantage of panel-based WES is its unbiased approach. Conclusion: Whole exome sequencing, followed by filtering for NMD genes, offers an unbiased approach for the genetic diagnostics of NMD patients. This approach could be used as a first-tier test in neuromuscular disorders with a high suspicion of a genetic cause. With uncertain results, functional testing and segregation analysis are needed to complete t

Published
2019

15. Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

Author

Westra, Dineke, primary, Schouten, Meyke I., additional, Stunnenberg, Bas C., additional, Kusters, Benno, additional, Saris, Christiaan G.J., additional, Erasmus, Corrie E., additional, van Engelen, Baziel G., additional, Bulk, Saskia, additional, Verschuuren-Bemelmans, Corien C., additional, Gerkes, E.H., additional, de Geus, Christa, additional, van der Zwaag, P.A., additional, Chan, Sophelia, additional, Chung, Brian, additional, Barge-Schaapveld, Daniela Q.C.M., additional, Kriek, Marjolein, additional, Sznajer, Yves, additional, van Spaendonck-Zwarts, Karin, additional, van der Kooi, Anneke J., additional, Krause, Amanda, additional, Schönewolf-Greulich, Bitten, additional, de Die-Smulders, Christine, additional, Sallevelt, Suzanne C.E.H., additional, Krapels, Ingrid P.C., additional, Rasmussen, Magnhild, additional, Maystadt, Isabelle, additional, Kievit, Anneke J.A., additional, Witting, Nanna, additional, Pennings, Maartje, additional, Meijer, Rowdy, additional, Gillissen, Christian, additional, Kamsteeg, Erik-Jan, additional, and Voermans, Nicol C., additional

Published
2019
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16. Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials

Author

Stunnenberg, Bas C., primary, Raaphorst, Joost, additional, Groenewoud, Hans M., additional, Statland, Jeffrey M., additional, Griggs, Robert C., additional, Woertman, Willem, additional, Stegeman, Dick F., additional, Timmermans, Janneke, additional, Trivedi, Jaya, additional, Matthews, Emma, additional, Saris, Christiaan G. J., additional, Schouwenberg, Bas J., additional, Drost, Gea, additional, van Engelen, Baziel G. M., additional, and van der Wilt, Gert Jan, additional

Published
2018
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18. Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol

Author

Stunnenberg, Bas C, primary, Woertman, Willem, additional, Raaphorst, Joost, additional, Statland, Jeffrey M, additional, Griggs, Robert C, additional, Timmermans, Janneke, additional, Saris, Christiaan G, additional, Schouwenberg, Bas J, additional, Groenewoud, Hans M, additional, Stegeman, Dick F, additional, van Engelen, Baziel G M, additional, Drost, Gea, additional, and van der Wilt, Gert Jan, additional

Published
2015
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20. Expert level of detection of interictal discharges with a deep neural network.

Author

Tjepkema‐Cloostermans, Marleen C., Tannemaat, Martijn R., Wieske, Luuk, Rootselaar, Anne‐Fleur, Stunnenberg, Bas C., Keijzer, Hanneke M., Koelman, Johannes H. T. M., Tromp, Selma C., Dunca, Ioana, Star, Baukje J., Koning, Myrthe E., and Putten, Michel J. A. M.

Subjects
*ARTIFICIAL neural networks, *EPILEPTIFORM discharges, *DEEP learning, *NETWORK performance, *ELECTROENCEPHALOGRAPHY
Abstract

Objective Methods Results Significance Deep learning methods have shown potential in automating the detection of interictal epileptiform discharges (IEDs) in electroencephalography (EEG). We compared IED detection using our previously trained deep neural network with a group of experts to assess its potential applicability.First, we performed clinical validation on an internal data set. Seven experts reviewed all EEG studies. Performance agreement between experts and the network was compared at both the EEG and IED levels. All EEG recordings were also processed with Persyst. Subsequently, we performed external validation, with data from four centers, using a hybrid approach, where detections by the deep neural network were reviewed by an expert. In case of disagreement with the original report, the EEG recording was annotated independently by five experts.For internal validation we included 22 EEG studies with IEDs and 28 EEG studies from controls. At the EEG level, our network showed performance similar to that of the experts. For individual IED detection, the sensitivities between experts ranged from 20.7%–86.4%, whereas the sensitivity of our network was 82.5% (confidence interval [CI]: 77.7%–87.4%) at 99% specificity and a false detection rate (FDR) of <.2/min, outperforming Persyst, with 64.6% sensitivity (CI: 61.4%–67.9%) at 98% specificity. External validation in 174 EEG studies demonstrated that all 85 EEG recordings classified as normal in the original report were classified correctly, with an FDR of .10/min. Of the 89 EEG studies with IEDs according to the report, 56 were correctly classified (Cohen's κ = .62). Visual analysis of the remaining 33 EEG recordings showed high interobserver variability among the five experts (Fleiss’ κ = .13).Our deep neural network detects IEDs on par with clinical experts. The external validation in a hybrid approach showed substantial agreement with the original report. Disagreement was due mainly to high interobserver variability. Our deep neural network may support visual EEG analysis and assist in diagnostics, particularly when human resources are limited. [ABSTRACT FROM AUTHOR]

Published
2024
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23. [A man with a painful penile mass].

Author

Stunnenberg BC and Göker E

Subjects
Humans, Male, Middle Aged, Treatment Outcome, Anticoagulants therapeutic use, Heparin, Low-Molecular-Weight therapeutic use, Penis blood supply, Venous Thrombosis diagnosis, Venous Thrombosis drug therapy
Abstract

A 46-year-old man presented with a painful mass of the proximal penis. Echography revealed thrombosis of the V. dorsalis profunda penis; a rare condition known as penile Mondor's disease. After 4 weeks of low-molecular-weight heparin therapy the symptoms and the thrombosis resolved.

Published
2011

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