Search

Your search keyword '"Doorduin, Jonne"' showing total 269 results
Start Over Author "Doorduin, Jonne"
269 results on '"Doorduin, Jonne"'

1. A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands

Author

van Kleef, Esmee S.B., van de Camp, Sanne A.J.H., Groothuis, Jan T., Erasmus, Corrie E., Gaytant, Michael A., Vosse, Bettine A.H., de Weerd, Willemien, Verschuuren-Bemelmans, Corien C., Medici-Van den Herik, Evita G., Wallgren-Pettersson, Carina, Küsters, Benno, Schouten, Meyke, van Engelen, Baziel G.M., Ottenheijm, Coen A.C., Doorduin, Jonne, and Voermans, Nicol C.

Published
2024
Full Text
View/download PDF

9. Notes on Techniques

Author

ten Donkelaar, Hans J., Doorduin, Jonne, Catani, Marco, van den Heuvel, Martijn P., ten Donkelaar, Hans J., Broman, Jonas, With Contrib. by, Catani, Marco, With Contrib. by, Cömert, Ayhan, With Contrib. by, Cruysberg, Johannes R.M., With Contrib. by, den Dunnen, Wilfred F.A., With Contrib. by, Doorduin, Jonne, With Contrib. by, Eling, Paul A.T.M., With Contrib. by, Hashizume, Yoshio, With Contrib. by, Hori, Akira, With Contrib. by, Horn, Anja K.E., With Contrib. by, Insausti, Ricardo, With Contrib. by, Kachlik, David, With Contrib. by, Kaga, Klimitaka, With Contrib. by, Küsters, Benno, With Contrib. by, Lammens, Martin, With Contrib. by, Němcová, Veronika, With Contrib. by, Overeem, Sebastiaan, With Contrib. by, van den Heuvel, Martijn P., With Contrib. by, van der Vliet, Ton, With Contrib. by, van de Warrenburg, Bart, With Contrib. by, van Domburg, Peter, With Contrib. by, Wesseling, Pieter, With Contrib. by, and Willemsen, Michèl, With Contrib. by

Published
2020
Full Text
View/download PDF

11. KBTBD13 is an actin-binding protein that modulates muscle kinetics

Author

de Winter, Josine M., primary, Molenaar, Joery P., additional, Yuen, Michaela, additional, van der Pijl, Robbert, additional, Shen, Shengyi, additional, Conijn, Stefan, additional, van de Locht, Martijn, additional, Willigenburg, Menne, additional, Bogaards, Sylvia J.P., additional, van Kleef, Esmee S.B., additional, Lassche, Saskia, additional, Persson, Malin, additional, Rassier, Dilson E., additional, Sztal, Tamar E., additional, Ruparelia, Avnika A., additional, Oorschot, Viola, additional, Ramm, Georg, additional, Hall, Thomas E., additional, Xiong, Zherui, additional, Johnson, Christopher N., additional, Li, Frank, additional, Kiss, Balazs, additional, Lozano-Vidal, Noelia, additional, Boon, Reinier A., additional, Marabita, Manuela, additional, Nogara, Leonardo, additional, Blaauw, Bert, additional, Rodenburg, Richard J., additional, Küsters, Benno, additional, Doorduin, Jonne, additional, Beggs, Alan H., additional, Granzier, Henk, additional, Campbell, Ken, additional, Ma, Weikang, additional, Irving, Thomas, additional, Malfatti, Edoardo, additional, Romero, Norma B., additional, Bryson-Richardson, Robert J., additional, van Engelen, Baziel G.M., additional, Voermans, Nicol C., additional, and Ottenheijm, Coen A.C., additional

Published
2024
Full Text
View/download PDF

13. Analysis and applications of respiratory surface EMG: report of a round table meeting

Author

Universitat Politècnica de Catalunya. Departament d'Enginyeria de Sistemes, Automàtica i Informàtica Industrial, Jonkman, Annemijn, Warnaar, Rob S. P., Baccinelli, Walter, Carbon, N. M., D'Cruz, Rebecca, Doorduin, Jonne, van Doorn, J. L. M., Elshof, Judith, Estrada Petrocelli, Luis Carlos, Torres Cebrián, Abel, Universitat Politècnica de Catalunya. Departament d'Enginyeria de Sistemes, Automàtica i Informàtica Industrial, Jonkman, Annemijn, Warnaar, Rob S. P., Baccinelli, Walter, Carbon, N. M., D'Cruz, Rebecca, Doorduin, Jonne, van Doorn, J. L. M., Elshof, Judith, Estrada Petrocelli, Luis Carlos, and Torres Cebrián, Abel

Abstract

Surface electromyography (sEMG) can be used to measure the electrical activity of the respiratory muscles. The possible applications of sEMG span from patients suffering from acute respiratory failure to patients receiving chronic home mechanical ventilation, to evaluate muscle function, titrate ventilatory support and guide treatment. However, sEMG is mainly used as a monitoring tool for research and its use in clinical practice is still limited—in part due to a lack of standardization and transparent reporting. During this round table meeting, recommendations on data acquisition, processing, interpretation, and potential clinical applications of respiratory sEMG were discussed. This paper informs the clinical researcher interested in respiratory muscle monitoring about the current state of the art on sEMG, knowledge gaps and potential future applications for patients with respiratory failure., Peer Reviewed, Objectius de Desenvolupament Sostenible::3 - Salut i Benestar, Postprint (author's final draft)

Published
2024

14. SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness

Author

Bouman, Karlijn, primary, Groothuis, Jan T., additional, Doorduin, Jonne, additional, van Alfen, Nens, additional, Udink ten Cate, Floris E.A., additional, van den Heuvel, Frederik M.A., additional, Nijveldt, Robin, additional, Kamsteeg, Erik-Jan, additional, Dittrich, Anne T.M., additional, Draaisma, Jos M.T., additional, Janssen, Mirian C.H., additional, van Engelen, Baziel G.M., additional, Erasmus, Corrie E., additional, and Voermans, Nicol C., additional

Published
2023
Full Text
View/download PDF

17. Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

Author

Bouman, Karlijn, Groothuis, Jan T., Doorduin, Jonne, van Alfen, Nens, Udink ten Cate, Floris E. A., van den Heuvel, Frederik M. A., Nijveldt, Robin, van Tilburg, Willem C. M., Buckens, Stan C. F. M., Dittrich, Anne T. M., Draaisma, Jos M. T., Janssen, Mirian C. H., Kamsteeg, Erik-Jan, van Kleef, Esmee S. B., Koene, Saskia, Smeitink, Jan A. M., Küsters, Benno, van Tienen, Florence H. J., Smeets, Hubert J. M., van Engelen, Baziel G. M., Erasmus, Corrie E., and Voermans, Nicol C.

Published
2021
Full Text
View/download PDF

18. KBTBD13 is an actin-binding protein that modulates muscle kinetics

Author

de Winter, Josine M., Molenaar, Joery P., Yuen, Michaela, van der Pijl, Robbert, Shen, Shengyi, Conijn, Stefan, van de Locht, Martijn, Willigenburg, Menne, Bogaards, Sylvia J.P., van Kleef, Esmee S.B., Lassche, Saskia, Persson, Malin, Rassier, Dilson E., Sztal, Tamar E., Ruparelia, Avnika A., Oorschot, Viola, Ramm, Georg, Hall, Thomas E., Xiong, Zherui, Johnson, Christopher N., Li, Frank, Kiss, Balazs, Lozano-Vidal, Noelia, Boon, Reinier A., Marabita, Manuela, Nogara, Leonardo, Blaauw, Bert, Rodenburg, Richard J., Kusters, Benno, Doorduin, Jonne, Beggs, Alan H., Granzier, Henk, Campbell, Ken, Ma, Weikang, Irving, Thomas, Malfatti, Edoardo, Romero, Norma B., Bryson-Richardson, Robert J., van Engelen, Baziel G.M., Voermans, Nicol C., and Ottenheijm, Coen A.C.

Subjects
Protein binding -- Analysis, Actin -- Analysis, X-ray diffraction -- Analysis, Binding proteins -- Analysis, Muscle proteins -- Analysis, Microscopy, Animal genetic engineering, Health care industry
Abstract

The mechanisms that modulate the kinetics of muscle relaxation are critically important for muscle function. A prime example of the impact of impaired relaxation kinetics is nemaline myopathy caused by mutations in KBTBD13 (NEM6). In addition to weakness, NEM6 patients have slow muscle relaxation, compromising contractility and daily life activities. The role of KBTBD13 in muscle is unknown, and the pathomechanism underlying NEM6 is undetermined. A combination of transcranial magnetic stimulation-induced muscle relaxation, muscle fiber- and sarcomere-contractility assays, low- angle x-ray diffraction, and superresolution microscopy revealed that the impaired muscle-relaxation kinetics in NEM6 patients are caused by structural changes in the thin filament, a sarcomeric microstructure. Using homology modeling and binding and contractility assays with recombinant KBTBD13, Kbtbd13-knockout and [Kbtbd13.sup.R408C]-knockin mouse models, and a GFP-labeled Kbtbd13-transgenic zebrafish model, we discovered that KBTBD13 binds to actin--a major constituent of the thin filament--and that mutations in KBTBD13 cause structural changes impairing muscle-relaxation kinetics. We propose that this actin-based impaired relaxation is central to NEM6 pathology., Introduction Regulation of muscle contraction is an intricate interplay between the actin-based thin filament and the myosin-based thick filament, both key components of the sarcomere, the smallest contractile unit in [...]

Published
2020
Full Text
View/download PDF

21. Comparison of muscle ultrasound and needle electromyography findings in neuromuscular disorders.

Author

Wijntjes, Juerd, Gerritsen, Jimmy, Doorduin, Jonne, and van Alfen, Nens

Abstract

Introduction/Aims: Needle electromyography (EMG) and muscle ultrasound can be used to evaluate patients with suspected neuromuscular disorders. The relation between muscle ultrasound pathology and the corresponding needle EMG findings is unknown. In this study we compared the results of concurrent ultrasound and needle EMG examinations in patients suspected of a neuromuscular disorder. Methods: Retrospective data from 218 patients with pairwise ultrasound and EMG results of 796 muscles were analyzed. We compared overall quantitative and visual muscle ultrasound results to EMGs with neurogenic and myopathic abnormalities and assessed the congruency of both methods in the different clinical diagnosis categories. Results: In muscles of patients with a neuromuscular disorder, abnormalities were found with EMG in 71.8%, and quantitative and visual muscle ultrasound results were abnormal in 19.3% and 35.4% respectively. In muscles with neurogenic EMG abnormalities, quantitative and visual muscle ultrasound results were abnormal in 18.9% versus 35.6%, increasing up to 43.7% versus 87.5% in muscles with the most pronounced signs of denervation. Congruency of EMG and ultrasound was better for more proximal and cranial muscles than for muscles in the hand and lower limb. Discussion: Needle EMG and muscle ultrasound typically produce disparate results and identify different aspects of muscle pathology. Muscle ultrasound seems less suited for detecting mild neurogenic abnormalities. As the severity of neurogenic needle EMG abnormalities increased, muscle ultrasound abnormalities were also increasingly found. Visual analysis seems better suited than grayscale quantification for detecting neurogenic abnormalities. See Editorial on pages 131–133 in this issue. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

24. Effects of levosimendan on respiratory muscle function in patients weaning from mechanical ventilation

Author

Roesthuis, Lisanne, van der Hoeven, Hans, Sinderby, Christer, Frenzel, Tim, Ottenheijm, Coen, Brochard, Laurent, and Doorduin, Jonne

Subjects
Medical research -- Analysis, Medicine, Experimental -- Analysis, Continuous positive airway pressure -- Analysis -- Research, Drug approval -- Research -- Analysis, Health care industry
Abstract

Purpose Respiratory muscle weakness frequently develops in critically ill patients and is associated with adverse outcome, including difficult weaning from mechanical ventilation. Today, no drug is approved to improve respiratory muscle function in these patients. Previously, we have shown that the calcium sensitizer levosimendan improves calcium sensitivity of human diaphragm muscle fibers in vitro and contractile efficiency of the diaphragm in healthy subjects. The main purpose of this study is to investigate the effects of levosimendan on diaphragm contractile efficiency in mechanically ventilated patients. Methods In a double-blind randomized placebo-controlled trial, mechanically ventilated patients performed two 30-min continuous positive airway pressure (CPAP) trials with 5-h interval. After the first CPAP trial, study medication (levosimendan 0.2 [micro]g/kg/min continuous infusion or placebo) was administered. During the CPAP trials, electrical activity of the diaphragm (EA.sub.di), transdiaphragmatic pressure (P.sub.di), and flow were measured. Neuromechanical efficiency (primary outcome parameter) was calculated. Results Thirty-nine patients were included in the study. Neuromechanical efficiency was not different during the CPAP trial after levosimendan administration compared to the CPAP trial before study medication. Tidal volume and minute ventilation were higher after levosimendan administration (11 and 21%, respectively), whereas EA.sub.di and P.sub.di were higher in both groups in the CPAP trial after study medication compared to the CPAP trial before study medication. Conclusions Levosimendan does not improve diaphragm contractile efficiency., Author(s): Lisanne Roesthuis [sup.1], Hans van der Hoeven [sup.1], Christer Sinderby [sup.2] [sup.3] [sup.4], Tim Frenzel [sup.1], Coen Ottenheijm [sup.5] [sup.6], Laurent Brochard [sup.2] [sup.7], Jonne Doorduin [sup.8], Leo Heunks [...]

Published
2019
Full Text
View/download PDF

25. LAMA2-Related Muscular Dystrophy Across the Life Span

Author

Bouman, Karlijn, primary, Groothuis, Jan T., additional, Doorduin, Jonne, additional, van Alfen, Nens, additional, Udink ten Cate, Floris E.A., additional, van den Heuvel, Frederik M.A., additional, Nijveldt, Robin, additional, Kamsteeg, Erik-Jan, additional, Dittrich, Anne T.M., additional, Draaisma, Jos M.T., additional, Janssen, Mirian C.H., additional, van Engelen, Baziel G.M., additional, Erasmus, Corrie E., additional, and Voermans, Nicol C., additional

Published
2023
Full Text
View/download PDF

28. Respiratory features of centronuclear myopathy in the Netherlands

Author

Longziekten, Other research (not in main researchprogram), Bouma, Sietse, Cobben, Nicolle, Bouman, Karlijn, Gaytant, Michael, van de Biggelaar, Ries, van Doorn, Jeroen, Reumers, Stacha F I, Voet, Nicoline Bm, Doorduin, Jonne, Erasmus, Corrie E, Kamsteeg, Erik-Jan, Jungbluth, Heinz, Wijkstra, Peter, Voermans, Nicol C, Longziekten, Other research (not in main researchprogram), Bouma, Sietse, Cobben, Nicolle, Bouman, Karlijn, Gaytant, Michael, van de Biggelaar, Ries, van Doorn, Jeroen, Reumers, Stacha F I, Voet, Nicoline Bm, Doorduin, Jonne, Erasmus, Corrie E, Kamsteeg, Erik-Jan, Jungbluth, Heinz, Wijkstra, Peter, and Voermans, Nicol C

Published
2023

29. A Likely Pathogenic variant in the KBTBD13Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6

Author

van Kleef, Esmee S.B., Bouman, Karlijn, Molenaar, Joery P.F., de Winter, Josine M., Duijkers, Floor A.M., Eftimov, Filip, Verschuuren-Bemelmans, Corien C., van der Laan, Tineke, Küsters, Benno, Malfatti, Edoardo, Kamsteeg, Erik-Jan, van Engelen, Baziel G.M., Ottenheijm, Coen A.C., Doorduin, Jonne, and Voermans, Nicol C.

Abstract

Nemaline myopathy type 6 (NEM6) or KBTBD13-related congenital myopathy is the most prevalent type of nemaline myopathy in the Netherlands and is characterised by mild childhood-onset axial, proximal and distal muscle weakness with prominent neck flexor weakness combined with slowness of movements. The most prevalent variant in the Netherlands is the c.1222C > T p.(Arg408Cys) variant in the KBTBD13gene, also called the Dutch founder variant. To provide a comprehensive clinical and functional characterisation of three patients to assess the pathogenicity of a newly identified variant in the KBTBD13gene. We present three cases (Patient 1: female, 76 years old; Patient 2: male, 63 years old; and his brother Patient 3: male, 61 years old) with a c.1222C > A p.(Arg408Ser) variant in the KBTBD13gene. Patient 1 was also included previously in a histopathological study on NEM6. Symptoms of muscle weakness started in childhood and progressed to impaired functional abilities in adulthood. All three patients reported slowness of movements. On examination, they have mild axial, proximal and distal muscle weakness. None of the patients exhibited cardiac abnormalities. Spirometry in two patients showed a restrictive lung pattern. Muscle ultrasound showed symmetrically increased echogenicity indicating fatty replacement and fibrosis in a subset of muscles and histopathological analyses revealed nemaline rods and cores. Slower muscle relaxation kinetics with in vivofunctional tests was observed. This was confirmed by in vitrofunctional tests showing impaired relaxation kinetics in isolated muscle fibres. We found a genealogic link between patient 1, and patient 2 and 3 nine generations earlier. The c.1222C > A p.(Arg408Ser) variant in the KBTBD13gene is a likely pathogenic variant causing NEM6.

Published
2024
Full Text
View/download PDF

31. Longitudinal Analysis of Quadriceps Muscle Strength in Patients with Previous COVID-19 Hospitalization and in Patients with Post-Acute Sequelae following Mild COVID-19

Author

Stoffels, Anouk A. F., primary, van Voorthuizen, Esther L., additional, van Hees, Hieronymus W. H., additional, Peters, Jeannette B., additional, van Helvoort, Hanneke A. C., additional, Voermans, Nicol C., additional, Doorduin, Jonne, additional, and van den Borst, Bram, additional

Published
2022
Full Text
View/download PDF

38. Respiratory muscle function in patients with nemaline myopathy

Author

Longziekten, Other research (not in main researchprogram), van Kleef, Esmee S B, van Doorn, Jeroen L M, Gaytant, Michael A, de Weerd, Willemien, Vosse, Bettine A H, Wallgren-Pettersson, Carina, van Engelen, Baziel G M, Ottenheijm, Coen A C, Voermans, Nicol C, Doorduin, Jonne, Longziekten, Other research (not in main researchprogram), van Kleef, Esmee S B, van Doorn, Jeroen L M, Gaytant, Michael A, de Weerd, Willemien, Vosse, Bettine A H, Wallgren-Pettersson, Carina, van Engelen, Baziel G M, Ottenheijm, Coen A C, Voermans, Nicol C, and Doorduin, Jonne

Published
2022

39. The Role of Microelectrode Recording and Stereotactic Computed Tomography in Verifying Lead Placement During Awake MRI-Guided Subthalamic Nucleus Deep Brain Stimulation for Parkinson’s Disease

Author

Vinke, R. Saman, primary, Selvaraj, Ashok K., additional, Geerlings, Martin, additional, Georgiev, Dejan, additional, Sadikov, Aleksander, additional, Kubben, Pieter L., additional, Doorduin, Jonne, additional, Praamstra, Peter, additional, Bloem, Bastiaan R., additional, Bartels, Ronald H.M.A., additional, and Esselink, Rianne A.J., additional

Published
2022
Full Text
View/download PDF

40. Treating Rhythmic and Periodic EEG Patterns in Comatose Survivors of Cardiac Arrest

Author

Ruijter, Barry J., primary, Keijzer, Hanneke M., additional, Tjepkema-Cloostermans, Marleen C., additional, Blans, Michiel J., additional, Beishuizen, Albertus, additional, Tromp, Selma C., additional, Scholten, Erik, additional, Horn, Janneke, additional, van Rootselaar, Anne-Fleur, additional, Admiraal, Marjolein M., additional, van den Bergh, Walter M., additional, Elting, Jan-Willem J., additional, Foudraine, Norbert A., additional, Kornips, Francois H.M., additional, van Kranen-Mastenbroek, Vivianne H.J.M., additional, Rouhl, Rob P.W., additional, Thomeer, Elsbeth C., additional, Moudrous, Walid, additional, Nijhuis, Frouke A.P., additional, Booij, Suzanne J., additional, Hoedemaekers, Cornelia W.E., additional, Doorduin, Jonne, additional, Taccone, Fabio S., additional, van der Palen, Job, additional, van Putten, Michel J.A.M., additional, and Hofmeijer, Jeannette, additional

Published
2022
Full Text
View/download PDF

43. Estimated ECG Subtraction method for removing ECG artifacts in esophageal recordings of diaphragm EMG

Author

Jonkman, Annemijn H. (author), Juffermans, Ricardo (author), Doorduin, Jonne (author), Heunks, Leo M.A. (author), Harlaar, J. (author), Jonkman, Annemijn H. (author), Juffermans, Ricardo (author), Doorduin, Jonne (author), Heunks, Leo M.A. (author), and Harlaar, J. (author)

Abstract

The accuracy of diaphragm electromyogram (EMGdi) derived parameters, as used in critically ill intensive care unit (ICU) patients, can be compromised due to electrocardiographic (ECG) interference in the EMGdi signal. Removal of ECG contamination from the esophageal recordings of the EMGdi is challenging due to spectral overlapping of EMG and ECG signals and because of variability in ECG shape and amplitude. Therefore, we designed an Estimated ECG Subtraction (EES) method, based on three steps: (1) identification of the timing of the ECG artifact without an ECG reference channel, (2) estimation of the normalized ECG, considering the EMGdi as noise, and (3) subtraction of the denormalized ECG estimate from the EMGdi recordings. We evaluated the EES method against the use of a single wavelet-based adaptive filter. Using EMGdi signals of ten ICU patients and simulated contaminated EMG, we demonstrated that the EES method yields uncontaminated EMGdi, and showed that it is more effective than a wavelet-based adaptive filter only. Implementation of this technique may offer means to improve diaphragm activity monitoring and control in clinical practice., Green Open Access added to TU Delft Institutional Repository 'You share, we take care!' - Taverne project https://www.openaccess.nl/en/you-share-we-take-care Otherwise as indicated in the copyright section: the publisher is the copyright holder of this work and the author uses the Dutch legislation to make this work public., Biomechatronics & Human-Machine Control

Published
2021
Full Text
View/download PDF

47. 250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6–8 September 2019, Hoofdorp, the Netherlands

Author

Neuhaus, Sarah B., primary, Wallgren-Pettersson, Carina, additional, Bönnemann, Carsten G., additional, Schara, Ulrike, additional, Servais, Laurent, additional, Annoussamy, Melanie, additional, Beggs, Alan, additional, Bönnemann, Carsten, additional, Colquhoun, Stephanie, additional, Darin, Niklas, additional, Doorduin, Jonne, additional, Dziewczapolski, Gustavo, additional, Evangelista, Teresinha, additional, Ferreiro, Anam, additional, Michael, Evam, additional, Moreno, Cristiane, additional, Munell, Francina, additional, Park, Charlesm, additional, Roos, Andreas, additional, Sarkozy, Anna, additional, Tasca, Giorgio, additional, and Voermans, Nicol, additional

Published
2020
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results