Search

Your search keyword '"van der Zwaag"' showing total 5,462 results
Start Over Author "van der Zwaag"

Refine your results

more »

more »

more »

more »

more »
5,462 results on '"van der Zwaag"'

4. Quantitative MRI at 7-Tesla reveals novel frontocortical myeloarchitecture anomalies in major depressive disorder

Author

Jurjen Heij, Wietske van der Zwaag, Tomas Knapen, Matthan W. A. Caan, Birte Forstman, Dick J. Veltman, Guido van Wingen, and Moji Aghajani

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Abstract Whereas meta-analytical data highlight abnormal frontocortical macrostructure (thickness/surface area/volume) in Major Depressive Disorder (MDD), the underlying microstructural processes remain uncharted, due to the use of conventional MRI scanners and acquisition techniques. We uniquely combined Ultra-High Field MRI at 7.0 Tesla with Quantitative Imaging to map intracortical myelin (proxied by longitudinal relaxation time T1) and iron concentration (proxied by transverse relaxation time T2*), microstructural processes deemed particularly germane to cortical macrostructure. Informed by meta-analytical evidence, we focused specifically on orbitofrontal and rostral anterior cingulate cortices among adult MDD patients (N = 48) and matched healthy controls (HC; N = 10). Analyses probed the association of MDD diagnosis and clinical profile (severity, medication use, comorbid anxiety disorders, childhood trauma) with aforementioned microstructural properties. MDD diagnosis (p’s

Published
2024
Full Text
View/download PDF

6. ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.

Author

Mattison, Kari, Tossing, Gilles, Mulroe, Fred, Simmons, Callum, Butler, Kameryn, Schreiber, Alison, Alsadah, Adnan, Neilson, Derek, Naess, Karin, Wedell, Anna, Wredenberg, Anna, Sorlin, Arthur, McCann, Emma, Burghel, George, Menendez, Beatriz, Hoganson, George, Botto, Lorenzo, Filloux, Francis, Aledo-Serrano, Ángel, Gil-Nagel, Antonio, Tatton-Brown, Katrina, Verbeek, Nienke, van der Zwaag, Bert, Aleck, Kyrieckos, Fazenbaker, Andrew, Balciuniene, Jorune, Dubbs, Holly, Marsh, Eric, Garber, Kathryn, Ek, Jakob, Duno, Morten, Hoei-Hansen, Christina, Deardorff, Matthew, Raca, Gordana, Quindipan, Catherine, van Hirtum-Das, Michele, Breckpot, Jeroen, Hammer, Trine, Møller, Rikke, Whitney, Andrea, Douglas, Andrew, Kharbanda, Mira, Brunetti-Pierri, Nicola, Morleo, Manuela, Nigro, Vincenzo, May, Halie, Tao, James, Sherr, Elliot, Dobyns, William, Baines, Richard, Warwicker, Jim, Parker, J, Banka, Siddharth, Campeau, Philippe, Escayg, Andrew, and Argilli, Emanuela

Subjects
ATP6V0C, V-ATPase, VMA3, epilepsy genetics, neurodevelopmental disorders, Humans, Vacuolar Proton-Translocating ATPases, Saccharomyces cerevisiae, Epilepsy, Adenosine Triphosphate
Abstract

The vacuolar H+-ATPase is an enzymatic complex that functions in an ATP-dependent manner to pump protons across membranes and acidify organelles, thereby creating the proton/pH gradient required for membrane trafficking by several different types of transporters. We describe heterozygous point variants in ATP6V0C, encoding the c-subunit in the membrane bound integral domain of the vacuolar H+-ATPase, in 27 patients with neurodevelopmental abnormalities with or without epilepsy. Corpus callosum hypoplasia and cardiac abnormalities were also present in some patients. In silico modelling suggested that the patient variants interfere with the interactions between the ATP6V0C and ATP6V0A subunits during ATP hydrolysis. Consistent with decreased vacuolar H+-ATPase activity, functional analyses conducted in Saccharomyces cerevisiae revealed reduced LysoSensor fluorescence and reduced growth in media containing varying concentrations of CaCl2. Knockdown of ATP6V0C in Drosophila resulted in increased duration of seizure-like behaviour, and the expression of selected patient variants in Caenorhabditis elegans led to reduced growth, motor dysfunction and reduced lifespan. In summary, this study establishes ATP6V0C as an important disease gene, describes the clinical features of the associated neurodevelopmental disorder and provides insight into disease mechanisms.

Published
2023

12. DeltaScan for the Assessment of Acute Encephalopathy and Delirium in ICU and non-ICU Patients, a Prospective Cross-Sectional Multicenter Validation Study

Author

Ditzel, Fienke L., Hut, Suzanne C.A., van den Boogaard, Mark, Boonstra, Michel, Leijten, Frans S.S., Wils, Evert-Jan, van Nesselrooij, Tim, Kromkamp, Marjan, Rood, Paul J.T., Röder, Christian, Bouvy, Paul F., Coesmans, Michiel, Osse, Robert Jan, Pop-Purceleanu, Monica, van Dellen, Edwin, Krulder, Jaap W.M., Milisen, Koen, Faaij, Richard, Vondeling, Ariël M., Kamper, Ad M., van Munster, Barbara C., de Jonghe, Annemarieke, Winters, Marian A.M., van der Ploeg, Jeanette, van der Zwaag, Sanneke, Koek, Dineke H.L., Drenth-van Maanen, Clara A.C., Beishuizen, Albertus, van den Bos, Deirdre M., Cahn, Wiepke, Schuit, Ewoud, and Slooter, Arjen J.C.

Published
2024
Full Text
View/download PDF

15. KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease

Author

Boulogne, Floranne, Claus, Laura R., Wiersma, Henry, Oelen, Roy, Schukking, Floor, de Klein, Niek, Li, Shuang, Westra, Harm-Jan, van der Zwaag, Bert, van Reekum, Franka, Sierks, Dana, Schönauer, Ria, Li, Zhigui, Bijlsma, Emilia K., Bos, Willem Jan W., Halbritter, Jan, Knoers, Nine V. A. M., Besse, Whitney, Deelen, Patrick, Franke, Lude, and van Eerde, Albertien M.

Published
2023
Full Text
View/download PDF

19. ECG-only explainable deep learning algorithm predicts the risk for malignant ventricular arrhythmia in phospholamban cardiomyopathy

Author

van de Leur, Rutger R., de Brouwer, Remco, Bleijendaal, Hidde, Verstraelen, Tom E., Mahmoud, Belend, Perez-Matos, Ana, Dickhoff, Cathelijne, Schoonderwoerd, Bas A., Germans, Tjeerd, Houweling, Arjan, van der Zwaag, Paul A., Cox, Moniek G.P.J., Peter van Tintelen, J., te Riele, Anneline S.J.M., van den Berg, Maarten P., Wilde, Arthur A.M., Doevendans, Pieter A., de Boer, Rudolf A., and van Es, René

Published
2024
Full Text
View/download PDF

28. Anesthesia and pain management of a patient with Kleefstra Syndrome for robotic ureteral reimplantation.

Author

E. D. Van Der Zwaag, N. A. Bohannon, S. L. Thompson, and J. K. Goeller

Subjects
airway management, anesthesia and analgesia, con- genital heart defects, kleefstra syndrome, pain man- agement, Pediatrics, RJ1-570, Anesthesiology, RD78.3-87.3
Abstract

Kleefstra syndrome (KS) is a genetic disorder caused by a microdeletion in the 9q34.3 chromosome with related clinical conditions requiring surgical intervention and careful consideration for anesthetic management includ- ing potential difficult airway, cardiac and neurological considerations, pulmonary infections, reflux and delayed gastric emptying, genitourinary abnormalities, hypoto- nia, and seizure disorders. In addition, we observed unique perioperative pain control considerations. We pre- sent a clinical case involving a 2-year-old female who re- ceived anesthesia for robotic ureteral reimplantation sur- gery. Perioperative implications are discussed and con- siderations for anesthetic care provided.

Published
2023
Full Text
View/download PDF

31. The transcription factor Uncx4.1 acts in a short window of midbrain dopaminergic neuron differentiation

Author

Rabe Tamara I, Griesel Gundula, Blanke Stephen, Kispert Andreas, Leitges Michael, van der Zwaag Bert, Burbach J Peter H, Varoqueaux Frédérique, and Mansouri Ahmed

Subjects
Uncx4.1, Midbrain, mDA neurons, Ngn2, Pax6, Differentiation, Expression, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Background The homeobox containing transcription factor Uncx4.1 is, amongst others, expressed in the mouse midbrain. The early expression of this transcription factor in the mouse, as well as in the chick midbrain, points to a conserved function of Uncx4.1, but so far a functional analysis in this brain territory is missing. The goal of the current study was to analyze in which midbrain neuronal subgroups Uncx4.1 is expressed and to examine whether this factor plays a role in the early development of these neuronal subgroups. Results We have shown that Uncx4.1 is expressed in GABAergic, glutamatergic and dopaminergic neurons in the mouse midbrain. In midbrain dopaminergic (mDA) neurons Uncx4.1 expression is particularly high around E11.5 and strongly diminished already at E17.5. The analysis of knockout mice revealed that the loss of Uncx4.1 is accompanied with a 25% decrease in the population of mDA neurons, as marked by tyrosine hydroxylase (TH), dopamine transporter (DAT), Pitx3 and Ngn2. In contrast, the number of glutamatergic Pax6-positive cells was augmented, while the GABAergic neuron population appears not affected in Uncx4.1-deficient embryos. Conclusion We conclude that Uncx4.1 is implicated in the development of mDA neurons where it displays a unique temporal expression profile in the early postmitotic stage. Our data indicate that the mechanism underlying the role of Uncx4.1 in mDA development is likely related to differentiation processes in postmitotic stages, and where Ngn2 is engaged. Moreover, Uncx4.1 might play an important role during glutamatergic neuronal differentiation in the mouse midbrain.

Published
2012
Full Text
View/download PDF

36. Effect of particle contact on the electrical performance of NTC-epoxy composite thermistors

Author

Deutz, Daniella B., van der Zwaag, Sybrand, and Groen, Pim

Subjects
Physics - Applied Physics, Condensed Matter - Materials Science
Abstract

As demand rises for flexible electronics, traditionally prepared sintered ceramic sensors must be transformed into fully new sensor materials that can bend and flex in use and integration. Negative temperature coefficient of resistance (NTC) ceramic thermistors are preferred temperature sensors for their high accuracy and excellent stability, yet their high stiffness and high temperature fabrication process limits their use in flexible electronics. Here, a low stiffness thermistor based on NTC ceramic particles of micron size embedded in an epoxy polymer matrix is reported. The effect of particle-to-particle contact on electrical performance is studied by arranging the NTC particles in the composite films in one of three ways: 1) Low particle contact, 2) Improved particle contact perpendicular to the electrodes and 3) dispersing high particle contact agglomerated clumps throughout the polymer. At 50 vol.\% of agglomerated NTC particles, the composite films exhibit a $\beta$-value of 2069 K and a resistivity, $\rho$, of 3.3$\cdot 10^5$ $\Omega$m, 4 orders of magnitude lower than a randomly dispersed composite at identical volume. A quantitative analysis shows that attaining a predominantly parallel connectivity of the NTC particles and polymer is a key parameter in determining the electrical performance of the composite film., Comment: Pim Groen aka W.A. Groen, 3 figures, 15 pages double spaced

Published
2019

38. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Author

Johnson, Brett V, Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, Billette de Villemeur, Thierry, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A, VanHasselt, Peter M, Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pena, Loren, Shashi, Vandana, Undiagnosed Diseases Network, Schoch, Kelly, Sullivan, Jennifer A, Pinto E Vairo, Filippo, Pichurin, Pavel N, Ewing, Sarah A, Barnett, Sarah S, Klee, Eric W, Perry, M Scott, Koenig, Mary Kay, Keegan, Catherine E, Schuette, Jane L, Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D, Rosenfeld, Jill A, Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E, Steeves, Marcie A, Hollander, Nicolette den, Hoffer, Mariëtte JV, Reijnders, Margot RF, Demirdas, Serwet, Koboldt, Daniel C, Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E, Shieh, Christine, Sanchez-Lara, Pedro A, Graham, John M, Tezcan, Kamer, Schaefer, GB, Danylchuk, Noelle R, Asamoah, Alexander, Jackson, Kelly E, Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A, and Kleefstra, Tjitske

Subjects
Undiagnosed Diseases Network, Animals, Humans, Mice, Ubiquitin Thiolesterase, Transforming Growth Factor beta, Developmental Disabilities, Signal Transduction, Phenotype, Female, Male, Haploinsufficiency, Intellectual Disability, Brain malformation, Deubiquitylating enzyme, Hippocampus, Neurodevelopmental disorder, TGFβ, USP9X, Congenital Structural Anomalies, Genetics, Neurosciences, Pediatric, Mental Health, Behavioral and Social Science, Brain Disorders, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Neurological, TGF beta, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract

BackgroundThe X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X escapes X inactivation, and in female subjects de novo heterozygous copy number loss or truncating mutations cause haploinsufficiency culminating in a recognizable syndrome with intellectual disability and signature brain and congenital abnormalities. In contrast, the involvement of USP9X in male neurodevelopmental disorders remains tentative.MethodsWe used clinically recommended guidelines to collect and interrogate the pathogenicity of 44 USP9X variants associated with neurodevelopmental disorders in males. Functional studies in patient-derived cell lines and mice were used to determine mechanisms of pathology.ResultsTwelve missense variants showed strong evidence of pathogenicity. We define a characteristic phenotype of the central nervous system (white matter disturbances, thin corpus callosum, and widened ventricles); global delay with significant alteration of speech, language, and behavior; hypotonia; joint hypermobility; visual system defects; and other common congenital and dysmorphic features. Comparison of in silico and phenotypical features align additional variants of unknown significance with likely pathogenicity. In support of partial loss-of-function mechanisms, using patient-derived cell lines, we show loss of only specific USP9X substrates that regulate neurodevelopmental signaling pathways and a united defect in transforming growth factor β signaling. In addition, we find correlates of the male phenotype in Usp9x brain-specific knockout mice, and further resolve loss of hippocampal-dependent learning and memory.ConclusionsOur data demonstrate the involvement of USP9X variants in a distinctive neurodevelopmental and behavioral syndrome in male subjects and identify plausible mechanisms of pathogenesis centered on disrupted transforming growth factor β signaling and hippocampal function.

Published
2020

39. Prediction of continuous and discrete kinetic parameters in horses from inertial measurement units data using recurrent artificial neural networks

Author

J. I. M. Parmentier, S. Bosch, B. J. van der Zwaag, M. A. Weishaupt, A. I. Gmel, P. J. M. Havinga, P. R. van Weeren, and F. M. Serra Braganca

Subjects
Medicine, Science
Abstract

Abstract Vertical ground reaction force (GRFz) measurements are the best tool for assessing horses' weight-bearing lameness. However, collection of these data is often impractical for clinical use. This study evaluates GRFz predicted using data from body-mounted IMUs and long short-term memory recurrent neural networks (LSTM-RNN). Twenty-four clinically sound horses, equipped with IMUs on the upper-body (UB) and each limb, walked and trotted on a GRFz measuring treadmill (TiF). Both systems were time-synchronised. Data from randomly selected 16, 4, and 4 horses formed training, validation, and test datasets, respectively. LSTM-RNN with different input sets (All, Limbs, UB, Sacrum, or Withers) were trained to predict GRFz curves or peak-GRFz. Our models could predict GRFz shapes at both gaits with RMSE below 0.40 N.kg−1. The best peak-GRFz values were obtained when extracted from the predicted curves by the all dataset. For both GRFz curves and peak-GRFz values, predictions made with the All or UB datasets were systematically better than with the Limbs dataset, showing the importance of including upper-body kinematic information for kinetic parameters predictions. More data should be gathered to confirm the usability of LSTM-RNN for GRFz predictions, as they highly depend on factors like speed, gait, and the presence of weight-bearing lameness.

Published
2023
Full Text
View/download PDF

44. Integrating Power Line and Visible Light Communication Technologies for Data Transmission in Hospital Environments

Author

Lazaro, R., Van Der Zwaag, Klaas Minne, Costa, Wesley, Acioli, G., Marinho, Marianne, Khouri, Mariana, Vivas, Gustavo de Castro, Santos, Francisco, Bastos-Filho, Teodiano, Segatto, Marcelo Vieira, Rocha, Helder, Silva, Jair Adriano Lima, Magjarevic, Ratko, Series Editor, Ładyżyński, Piotr, Associate Editor, Ibrahim, Fatimah, Associate Editor, Lackovic, Igor, Associate Editor, Rock, Emilio Sacristan, Associate Editor, Bastos-Filho, Teodiano Freire, editor, de Oliveira Caldeira, Eliete Maria, editor, and Frizera-Neto, Anselmo, editor

Published
2022
Full Text
View/download PDF

50. Controlling the piezoelectric properties in bulk BiFeO3–PbTiO3–Li0.5Bi0.5TiO3 ceramic by quenching and annealing.

Author

Tuluk, Anton and van der Zwaag, Sybrand

Subjects
*HIGH temperatures, *HEAT treatment, *PIEZOELECTRIC ceramics, *METASTABLE states, *TERNARY system, *FERROELECTRIC ceramics
Abstract

In the present work, we study the effect of quenching and annealing on the ferroelectric and piezoelectric properties at room temperature and elevated temperatures of a new ternary BiFeO3-PbTiO3-Li0.5Bi0.5TiO3 bulk piezo ceramic. While sacrificing part of the maximally obtainable piezoelectric constant value, using an optimal heat treatment, a quasi-stable value for the piezoelectric constant of 65 pC/N was obtained irrespective of the annealing temperature. All experimental results point to the direction of unusual defect behavior in this novel ternary system leading to a well-defined metastable state. The quenching and annealing process are completely reversible and can be used in combination with additional chemical modifications to tailor the properties of this new high-temperature piezoelectric ceramic to the intended use conditions. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results