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3. Experimental investigation of relaxation oscillations resonance in mode-locked Fabry-Perot semiconductor lasers

Author

Roncin, Vincent, Poëtte, Julien, Hayau, Jean-François, Besnard, Pascal, Simon, Jean-Claude, Van Dijk, F., Shen, Alexandre, and Duan, Guang-Hua

Subjects
Physics - Optics
Abstract

We propose in this communication an experimental study of the relaxation oscillations behavior in mode-locked lasers. The semiconductor self-pulsating laser diode is composed by two gain sections, without saturable absorber. It is made of bulk structure and designed for optical telecommunication applications. This specific device allows two different regimes of optical modulation: the first one corresponds to the resonance of the relaxation oscillations and the second one, to the mode-locking regime at FSR value. This singular behavior leads us to characterize the self-pulsations which are coexisting in the laser and to describe two regimes of output modulation: the first one appears thanks to the resonance of the oscillation relaxation and the other one corresponds to the FSR of the Fabry-Perot laser at 40 GHz., Comment: poster session, SPIE Photonics Europe, Strasbourg : France (2008)

Published
2014
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7. Low Phase Noise InP-SiN Hybrid Mode-Locked Laser working at 3.64 GHz

Author

Duport, F., primary, Boust, S., additional, Ibrahimi, Y., additional, Baili, G., additional, Dande, G., additional, Wilmart, Q., additional, Garcia, S., additional, Fortin, C., additional, Garreau, A., additional, Paret, J-F., additional, Mekhazni, K., additional, Gariah, H., additional, Charbonnier, P., additional, Blache, F., additional, and Van Dijk, F., additional

Published
2023
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8. Routine Postsurgical Anesthesia Visit to Improve 30-Day Morbidity and Mortality: A Multicenter, Stepped-Wedge Cluster Randomized Interventional Study (the TRACE Study)

Author

Buhre, Wolfgang F F A, Boer, Christa, Boer, Dianne de Korte-de, Stolze, Annick, Posthuma, Linda M, Smit-Fun, Valérie M, van Kuijk, Sander, Noordzij, Peter G, Rinia, Myra, Hering, Jens-Peter, Veld, Bas 't, Scheffer, Gert-Jan, Dirksen, Carmen, Boermeester, Marja, Bonjer, Jaap, Dejong, Cees, Hollmann, Markus W, Breel, J S, van den Brink, I, van Dijk, F, Geurts, J, Glas, W, van Gorp, R, Jwair, A, Koca, F, Lange, I, Preckel, B, van Roy, J P, Theunissen, M., Wensing, A G C L, Werger, A, TRACE Study Investigators, Buhre, Wolfgang F F A, Boer, Christa, Boer, Dianne de Korte-de, Stolze, Annick, Posthuma, Linda M, Smit-Fun, Valérie M, van Kuijk, Sander, Noordzij, Peter G, Rinia, Myra, Hering, Jens-Peter, Veld, Bas 't, Scheffer, Gert-Jan, Dirksen, Carmen, Boermeester, Marja, Bonjer, Jaap, Dejong, Cees, Hollmann, Markus W, Breel, J S, van den Brink, I, van Dijk, F, Geurts, J, Glas, W, van Gorp, R, Jwair, A, Koca, F, Lange, I, Preckel, B, van Roy, J P, Theunissen, M., Wensing, A G C L, Werger, A, and TRACE Study Investigators

Abstract

Objective: To study the impact of a standardized postoperative anesthesia visit on 30-day mortality in medium to high-risk elective surgical patients. Background: Postoperative complications are the leading cause of perioperative morbidity and mortality. Although modified early warning scores (MEWS) were instituted to monitor vital functions and improve postoperative outcome, we hypothesized that complementary anesthesia expertise is needed to adequately identify early deterioration. Methods: In a prospective, multicenter, stepped-wedge cluster randomized interventional study in 9 academic and nonacademic hospitals in the Netherlands, we studied the impact of adding standardized postoperative anesthesia visits on day 1 and 3 to routine use of MEWS in 5473 patients undergoing elective noncardiac surgery. Primary outcome was 30-day mortality. Secondary outcomes included: incidence of postoperative complications, length of hospital stay, and intensive care unit admission. Results: Patients were enrolled between October 2016 and August 2018. Informed consent was obtained from 5473 patients of which 5190 were eligible for statistical analyses, 2490 in the control and 2700 in the intervention group. Thirty-day mortality was 0.56% (n = 14) in the control and 0.44% (n = 12) in the intervention group (odds ratio 0.74, 95% Confidence interval 0.34-1.62). Incidence of postoperative complications did not differ between groups except for renal complications which was higher in the control group (1.7% (n = 41) vs 1.0% (n = 27), P = 0.014). Median length of hospital stay did not differ significantly between groups. During the postanesthesia visits, for 16% (n = 437) and 11% (n = 293) of patients recommendations were given on day 1 and 3, respectively, of which 67% (n = 293) and 69% (n = 202) were followed up. Conclusions: The combination of MEWS and a postoperative anesthesia visit did not reduce 30-day mortality. Whether a postoperative anesthesia visit with strong adherence t

Published
2023

9. Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome

Author

Angwin, C., primary, Zschocke, J., additional, Kammin, T., additional, Björck, E., additional, Bowen, J., additional, Brady, A. F., additional, Burns, H., additional, Cummings, C., additional, Gardner, R., additional, Ghali, N., additional, Gröbner, R., additional, Harris, J., additional, Higgins, M., additional, Johnson, D., additional, Lepperdinger, U., additional, Milnes, D., additional, Pope, F. M., additional, Sehra, R., additional, Kapferer-Seebacher, I., additional, Sobey, G., additional, and Van Dijk, F. S., additional

Published
2023
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10. Correction for both common and rare cell types in blood is important to identify genes that correlate with age

Author

Pellegrino Coppola, D, Claringbould, A, Stutvoet, M, Heijmans, B, ‘t Hoen, P, van Meurs, J, Isaacs, A, Jansen, R, Pool, R, van Dongen, J, Hottenga, J, van Greevenbroek, M, Stehouwer, C, van der Kallen, C, Schalkwijk, C, Wijmenga, C, Zhernakova, S, Tigchelaar, E, Beekman, M, Deelen, J, van Heemst, D, Veldink, J, van den Berg, L, van Duijn, C, Hofman, B, Uitterlinden, A, Jhamai, P, Verbiest, M, Suchiman, H, Verkerk, M, van der Breggen, R, van Rooij, J, Lakenberg, N, Mei, H, van Iterson, M, van Galen, M, Bot, J, Zhernakova, D, van ‘t Hof, P, Deelen, P, Nooren, I, Vermaat, M, Luijk, R, Bonder, M, van Dijk, F, Arindrarto, W, Kielbasa, S, Swertz, M, van Zwet, E, Boomsma, D, Ikram, M, Slagboom, P, Westra, H, Franke, L, Pellegrino Coppola D., Claringbould A., Stutvoet M., Heijmans B. T., ‘t Hoen P. A. C., van Meurs J., Isaacs A., Jansen R., Pool R., van Dongen J., Hottenga J. J., van Greevenbroek M. M. J., Stehouwer C. D. A., van der Kallen C. J. H., Schalkwijk C. G., Wijmenga C., Zhernakova S., Tigchelaar E. F., Beekman M., Deelen J., van Heemst D., Veldink J. H., van den Berg L. H., van Duijn C. M., Hofman B. A., Uitterlinden A. G., Jhamai P. M., Verbiest M., Suchiman H. E. D., Verkerk M., van der Breggen R., van Rooij J., Lakenberg N., Mei H., van Iterson M., van Galen M., Bot J., Zhernakova D. V., van ‘t Hof P., Deelen P., Nooren I., Vermaat M., Luijk R., Bonder M. J., van Dijk F., Arindrarto W., Kielbasa S. M., Swertz M. A., van Zwet E. W., ‘t Hoen P. B., Boomsma D. I., Ikram M. A., Slagboom P. E., Westra H. J., Franke L., Pellegrino Coppola, D, Claringbould, A, Stutvoet, M, Heijmans, B, ‘t Hoen, P, van Meurs, J, Isaacs, A, Jansen, R, Pool, R, van Dongen, J, Hottenga, J, van Greevenbroek, M, Stehouwer, C, van der Kallen, C, Schalkwijk, C, Wijmenga, C, Zhernakova, S, Tigchelaar, E, Beekman, M, Deelen, J, van Heemst, D, Veldink, J, van den Berg, L, van Duijn, C, Hofman, B, Uitterlinden, A, Jhamai, P, Verbiest, M, Suchiman, H, Verkerk, M, van der Breggen, R, van Rooij, J, Lakenberg, N, Mei, H, van Iterson, M, van Galen, M, Bot, J, Zhernakova, D, van ‘t Hof, P, Deelen, P, Nooren, I, Vermaat, M, Luijk, R, Bonder, M, van Dijk, F, Arindrarto, W, Kielbasa, S, Swertz, M, van Zwet, E, Boomsma, D, Ikram, M, Slagboom, P, Westra, H, Franke, L, Pellegrino Coppola D., Claringbould A., Stutvoet M., Heijmans B. T., ‘t Hoen P. A. C., van Meurs J., Isaacs A., Jansen R., Pool R., van Dongen J., Hottenga J. J., van Greevenbroek M. M. J., Stehouwer C. D. A., van der Kallen C. J. H., Schalkwijk C. G., Wijmenga C., Zhernakova S., Tigchelaar E. F., Beekman M., Deelen J., van Heemst D., Veldink J. H., van den Berg L. H., van Duijn C. M., Hofman B. A., Uitterlinden A. G., Jhamai P. M., Verbiest M., Suchiman H. E. D., Verkerk M., van der Breggen R., van Rooij J., Lakenberg N., Mei H., van Iterson M., van Galen M., Bot J., Zhernakova D. V., van ‘t Hof P., Deelen P., Nooren I., Vermaat M., Luijk R., Bonder M. J., van Dijk F., Arindrarto W., Kielbasa S. M., Swertz M. A., van Zwet E. W., ‘t Hoen P. B., Boomsma D. I., Ikram M. A., Slagboom P. E., Westra H. J., and Franke L.

Abstract

Background Aging is a multifactorial process that affects multiple tissues and is characterized by changes in homeostasis over time, leading to increased morbidity. Whole blood gene expression signatures have been associated with aging and have been used to gain information on its biological mechanisms, which are still not fully understood. However, blood is composed of many cell types whose proportions in blood vary with age. As a result, previously observed associations between gene expression levels and aging might be driven by cell type composition rather than intracellular aging mechanisms. To overcome this, previous aging studies already accounted for major cell types, but the possibility that the reported associations are false positives driven by less prevalent cell subtypes remains. Results Here, we compared the regression model from our previous work to an extended model that corrects for 33 additional white blood cell subtypes. Both models were applied to whole blood gene expression data from 3165 individuals belonging to the general population (age range of 18-81 years). We evaluated that the new model is a better fit for the data and it identified fewer genes associated with aging (625, compared to the 2808 of the initial model; P <= 2.5x10(-6)). Moreover, 511 genes (similar to 18% of the 2808 genes identified by the initial model) were found using both models, indicating that the other previously reported genes could be proxies for less abundant cell types. In particular, functional enrichment of the genes identified by the new model highlighted pathways and GO terms specifically associated with platelet activity. Conclusions We conclude that gene expression analyses in blood strongly benefit from correction for both common and rare blood cell types, and recommend using blood-cell count estimates as standard covariates when studying whole blood gene expression.

Published
2021

11. Behavioural Phenotype in Borjeson-Forssman-Lehmann Syndrome

Author

de Winter, C. F., van Dijk, F., and Stolker, J. J.

Abstract

Background: Borjeson-Forssman-Lehmann syndrome (BFLs) is an X-linked inherited disorder characterised by unusual facial features, abnormal fat distribution and intellectual disability. As many genetically determined disorders are characterised not only by physical features but also by specific behaviour, we studied whether a specific behavioural phenotype exists in BFLs. Methods: We studied in detail the behaviour of four molecularly proven BFLs patients, and reviewed available literature on BFLs specifically for behavioural characteristics. Results: Behaviour in persons with BFLs is in general friendly, but can be challenging with externalising and thrill-seeking features. Social skills are good. However, variation among patients is wide. Three patients from a single family showed expressed hypersexual behaviour. This was not present in other patients. Conclusion: In BFLs a specific behavioural phenotype exists and in behaviour general is challenging besides a friendly habit. Within single families more problematic behaviour may occur. Further behavioural and molecular analysis of a larger group of patients is warranted to determine whether a genotype-behavioural phenotype correlation exists.

Published
2009
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15. Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

Author

Hop, P.J., Zwamborn, R.A.J., Hannon, E., Shireby, G.L., Nabais, M.F., Walker, E.M., van Rheenen, W., van Vugt, J.J.F.A., Dekker, A.M., Westeneng, H-J, Tazelaar, G.H.P., van Eijk, K.R., Moisse, M., Baird, D., Al Khleifat, A., Iacoangeli, A., Ticozzi, N., Ratti, A., Cooper-Knock, J., Morrison, K.E., Shaw, P.J., Basak, A.N., Chiò, A., Calvo, A., Moglia, C., Canosa, A., Brunetti, M., Grassano, M., Gotkine, M., Lerner, Y., Zabari, M., Vourc’h, P., Corcia, P., Couratier, P., Mora Pardina, J.S., Salas, T., Dion, P., Ross, J.P., Henderson, R.D., Mathers, S., McCombe, P.A., Needham, M., Nicholson, G., Rowe, D.B., Pamphlett, R., Mather, K.A., Sachdev, P.S., Furlong, S., Garton, F.C., Henders, A.K., Lin, T., Ngo, S.T., Steyn, F.J., Wallace, L., Williams, K.L., Neto, M.M., Cauchi, R.J., Blair, I.P., Kiernan, M.C., Drory, V., Povedano, M., de Carvalho, M., Pinto, S., Weber, M., Rouleau, G.A., Silani, V., Landers, J.E., Shaw, C.E., Andersen, P.M., McRae, A.F., van Es, M.A., Pasterkamp, R.J., Wray, N.R., McLaughlin, R.L., Hardiman, O., Kenna, K.P., Tsai, E., Runz, H., Al-Chalabi, A., van den Berg, L.H., Van Damme, P., Mill, J., Veldink, J.H., Heijmans, B.T., t Hoen, P.A.C., van Meurs, J., Jansen, R., Franke, L., Boomsma, D.I., Pool, R., van Dongen, J., Hottenga, J.J., van Greevenbroek, M.M.J., Stehouwer, C.D.A., van der Kallen, C.J.H., Schalkwijk, C.G., Wijmenga, C., Zhernakova, S., Tigchelaar, E.F., Slagboom, P.E., Beekman, M., Deelen, J., Van Heemst, D., van Duijn, C.M., Hofman, B.A., Isaacs, A., Uitterlinden, A.G., van Meurs, J.B.C., Jhamai, P.M., Verbiest, M., Suchiman, H.E.D., Verkerk, M., van der Breggen, R., van Rooij, J., Lakenberg, N., Mei, H., van Iterson, M., van Galen, M., Bot, J., Zhernakova, D.V., van ‘t Hof, P., Deelen, P., Nooren, I., Moed, M., Vermaat, M., Luijk, R., Jan Bonder, M., van Dijk, F., Arindrarto, W., Kielbasa, S.M., Swertz, M.A., van Zwet, E.W., Hoen, P.A.C., Bensimon, G., Chio, A., Smith, G.D., Hop, P.J., Zwamborn, R.A.J., Hannon, E., Shireby, G.L., Nabais, M.F., Walker, E.M., van Rheenen, W., van Vugt, J.J.F.A., Dekker, A.M., Westeneng, H-J, Tazelaar, G.H.P., van Eijk, K.R., Moisse, M., Baird, D., Al Khleifat, A., Iacoangeli, A., Ticozzi, N., Ratti, A., Cooper-Knock, J., Morrison, K.E., Shaw, P.J., Basak, A.N., Chiò, A., Calvo, A., Moglia, C., Canosa, A., Brunetti, M., Grassano, M., Gotkine, M., Lerner, Y., Zabari, M., Vourc’h, P., Corcia, P., Couratier, P., Mora Pardina, J.S., Salas, T., Dion, P., Ross, J.P., Henderson, R.D., Mathers, S., McCombe, P.A., Needham, M., Nicholson, G., Rowe, D.B., Pamphlett, R., Mather, K.A., Sachdev, P.S., Furlong, S., Garton, F.C., Henders, A.K., Lin, T., Ngo, S.T., Steyn, F.J., Wallace, L., Williams, K.L., Neto, M.M., Cauchi, R.J., Blair, I.P., Kiernan, M.C., Drory, V., Povedano, M., de Carvalho, M., Pinto, S., Weber, M., Rouleau, G.A., Silani, V., Landers, J.E., Shaw, C.E., Andersen, P.M., McRae, A.F., van Es, M.A., Pasterkamp, R.J., Wray, N.R., McLaughlin, R.L., Hardiman, O., Kenna, K.P., Tsai, E., Runz, H., Al-Chalabi, A., van den Berg, L.H., Van Damme, P., Mill, J., Veldink, J.H., Heijmans, B.T., t Hoen, P.A.C., van Meurs, J., Jansen, R., Franke, L., Boomsma, D.I., Pool, R., van Dongen, J., Hottenga, J.J., van Greevenbroek, M.M.J., Stehouwer, C.D.A., van der Kallen, C.J.H., Schalkwijk, C.G., Wijmenga, C., Zhernakova, S., Tigchelaar, E.F., Slagboom, P.E., Beekman, M., Deelen, J., Van Heemst, D., van Duijn, C.M., Hofman, B.A., Isaacs, A., Uitterlinden, A.G., van Meurs, J.B.C., Jhamai, P.M., Verbiest, M., Suchiman, H.E.D., Verkerk, M., van der Breggen, R., van Rooij, J., Lakenberg, N., Mei, H., van Iterson, M., van Galen, M., Bot, J., Zhernakova, D.V., van ‘t Hof, P., Deelen, P., Nooren, I., Moed, M., Vermaat, M., Luijk, R., Jan Bonder, M., van Dijk, F., Arindrarto, W., Kielbasa, S.M., Swertz, M.A., van Zwet, E.W., Hoen, P.A.C., Bensimon, G., Chio, A., and Smith, G.D.

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated heritability between 40 and 50%. DNA methylation patterns can serve as proxies of (past) exposures and disease progression, as well as providing a potential mechanism that mediates genetic or environmental risk. Here, we present a blood-based epigenome-wide association study meta-analysis in 9706 samples passing stringent quality control (6763 patients, 2943 controls). We identified a total of 45 differentially methylated positions (DMPs) annotated to 42 genes, which are enriched for pathways and traits related to metabolism, cholesterol biosynthesis, and immunity. We then tested 39 DNA methylation–based proxies of putative ALS risk factors and found that high-density lipoprotein cholesterol, body mass index, white blood cell proportions, and alcohol intake were independently associated with ALS. Integration of these results with our latest genome-wide association study showed that cholesterol biosynthesis was potentially causally related to ALS. Last, DNA methylation at several DMPs and blood cell proportion estimates derived from DNA methylation data were associated with survival rate in patients, suggesting that they might represent indicators of underlying disease processes potentially amenable to therapeutic interventions.

Published
2022

16. De Persoonlijke Antipsychotica Keuzewijzer

Author

van Dijk, F. A., de Haan, L., Schirmbeck, N. F., Blankers, M., Adult Psychiatry, APH - Mental Health, Amsterdam Neuroscience - Complex Trait Genetics, and Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep

Abstract

BACKGROUND: More than half of the patients suffering from a first psychotic episode withdraw from antipsychotic medication within the first year of treatment. Shared decision making could enhance the therapeutic relationship and thus adherence. AIM: To describe an online decision aid for the selection of antipsychotic medication: the Personal Antipsychotic Choice Index (www.pakwijzer.nl). METHOD: Per effect and side effect, the 15 most commonly prescribed antipsychotics in the Netherlands have been ranked on the basis of data on the magnitude of a desired effect and the chance of a side effect, based on a systematic literature study. We assigned scores to antipsychotics for each desired and undesired effect and processed these scores in an algorithm. A personal ranking of antipsychotics is calculated based on the value that patients attach to these effects. RESULTS: These desired and undesired criteria used are rated in the PACindex: effectiveness concerning psychotic, depressive and cognitive symptoms, weight gain, sexual dysfunction, drowsiness, hypersomnia, extrapyramidal symptoms, anticholinergic adverse effects, hypersalivation, nausea, dizziness, energy loss, blunted affect/less need for companionship. High level evidence was available for ranking weight gain, sexual dysfunction, menstrual disorders, extrapyramidal symptoms and effectiveness on psychotic symptoms. We used lower level evidence ranking the remaining criteria. CONCLUSION: A ready applicable online choixe index for the use of an antipsychotic agent has been developed and put into use. The PACindex could be updated when new evidence of new antipsychotics became available..

Published
2022

23. Epilogue

Author

Swaen, G. and Van Dijk, F.

Published
2003

26. The Routine posTsuRgical Anesthesia visit to improve patient outComE (TRACE) study: lessons learned

Author

Buhre, Wolfgang F.F.A., de Korte-de Boer, Dianne, Boer, Christa, Stolze, Annick, Posthuma, Linda M., Smit-Fun, Valérie M., van Kuijk, Sander, Hollmann, Markus W., Noordzij, Peter G., Rinia, Myra, Hering, Jens-Peter, Veld, Bas in ‘t, Scheffer, Gert-Jan, Dirksen, Carmen, Boermeester, Marja, Bonjer, Jaap, Dejong, Cees, Breel, J.S., Bouw, T., van Dijk, F., Geurts, J., Glas, W., van Gorp, R., Jwair, A., Koca, F., Lange, I., Preckel, B., van Roy, J.P., Theunissen, M., Wensing, A.G.C.L., and Werger, A.

Published
2021
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34. The Routine posTsuRgical Anesthesia visit to improve patient outComE (TRACE) study: lessons learned

Author

Hollmann, Markus W., primary, de Korte-de Boer, Dianne, additional, Boer, Christa, additional, Buhre, Wolfgang F.F.A., additional, Stolze, Annick, additional, Posthuma, Linda M., additional, Smit-Fun, Valérie M., additional, van Kuijk, Sander, additional, Hollmann, Markus W., additional, Noordzij, Peter G., additional, Rinia, Myra, additional, Hering, Jens-Peter, additional, Veld, Bas in ‘t, additional, Scheffer, Gert-Jan, additional, Dirksen, Carmen, additional, Boermeester, Marja, additional, Bonjer, Jaap, additional, Dejong, Cees, additional, Breel, J.S., additional, Bouw, T., additional, van Dijk, F., additional, Geurts, J., additional, Glas, W., additional, van Gorp, R., additional, Jwair, A., additional, Koca, F., additional, Lange, I., additional, Preckel, B., additional, van Roy, J.P., additional, Theunissen, M., additional, Wensing, A.G.C.L., additional, and Werger, A., additional

Published
2021
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40. Millimeter-wave photonic components for broadband wireless systems

Author

Stohr, A., Babiel, S., Cannard, P.J., Charbonnier, B., van Dijk, F., Fedderwitz, S., Moodie, D., Pavlovic, L., Ponnampalam, L., Renaud, C.C., Rogers, D., Rymanov, V., Seeds, A., Steffan, A.G., Umbach, A., and Weiss, M.

Subjects
Broadband transmission -- Analysis, Microwaves -- Analysis, Photonics -- Research, Semiconductor lasers -- Design and construction, Mobile communication systems -- Analysis, Wireless communication systems -- Analysis, Broadband Internet, Wireless technology, Business, Computers, Electronics, Electronics and electrical industries
Published
2010

45. Skewed X-inactivation is common in the general female population

Author

Shvetsova, E, Sofronova, A, Monajemi, R, Gagalova, K, Draisma, HHM, White, SJ, Santen, GWE, Lopes, SMCDS, Heijmans, BT, Van Meurs, J, Jansen, R, Franke, L, Kielbasa, SM, Den Dunnen, JT, 't Hoen, PAC, Boomsma, DI, Pool, R, Van Dongen, J, Hottenga, JJ, Van Greevenbroek, MMJ, Da Stehouwer, C, Van der Kallen, CJH, Schalkwijk, CG, Wijmenga, C, Zhernakova, S, Tigchelaar, EF, Slagboom, PE, Beekman, M, Deelen, J, Van Heemst, D, Veldink, JH, Van den Berg, LH, Van Duijn, CM, Hofman, BA, Uitterlinden, AG, Jhamai, PM, Verbiest, M, Suchiman, HED, Verkerk, M, Van der Breggen, R, Van Rooij, J, Lakenberg, N, Mei, H, Bot, J, Zhernakova, DV, 't Hof, PV, Deelen, P, Nooren, I, Moed, M, Vermaat, M, Luijk, R, Bonder, MJ, Van Iterson, M, Van Dijk, F, Van Galen, M, Arindrarto, W, Swertz, MA, Van Zwet, EW, Isaacs, A, Francioli, LC, Menelaou, A, Pulit, SL, Palamara, PF, Elbers, CC, Neerincx, PB, Ye, K, Guryev, V, Kloosterman, WP, Abdellaoui, A, Van Leeuwen, EM, Van Oven, M, Li, M, Laros, JF, Karssen, LC, Kanterakis, A, Amin, N, Lameijer, EW, Kattenberg, M, Dijkstra, M, Byelas, H, Van Setten, J, Van Schaik, BD, Nijman, IJ, Renkens, I, Marschall, T, Schonhuth, A, Hehir-Kwa, JY, Handsaker, RE, Polak, P, Sohail, M, Vuzman, D, Hormozdiari, F, Van Enckevort, D, Koval, V, Moed, MH, Van der Velde, KJ, Rivadeneira, F, Estrada, K, Medina-Gomez, C, McCarroll, SA, De Craen, AJ, Suchiman, HE, Oostra, B, Willemsen, G, Platteel, M, Pitts, SJ, Potluri, S, Sundar, P, Cox, DR, Sunyaev, SR, Stoneking, M, De Knijff, P, Kayser, M, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Li, N, Cao, S, Wang, J, Bovenberg, JA, Pe'er, I, Van Ommen, GJ, De Bakker, PI, Consortium, Bios, Consortium, Gonl, BIOS consortium, GoNL consortium, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Translational Immunology Groningen (TRIGR), Groningen Research Institute for Asthma and COPD (GRIAC), Stem Cell Aging Leukemia and Lymphoma (SALL), Epidemiology and Data Science, AII - Inflammatory diseases, APH - Methodology, Experimental Immunology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, APH - Personalized Medicine, Biological Psychology, APH - Mental Health, APH - Health Behaviors & Chronic Diseases, RS: Carim - V01 Vascular complications of diabetes and metabolic syndrome, Interne Geneeskunde, RS: CARIM - R3 - Vascular biology, MUMC+: MA Reumatologie (9), MUMC+: MA Nefrologie (9), MUMC+: MA Medische Oncologie (9), MUMC+: MA Hematologie (9), MUMC+: MA Maag Darm Lever (9), MUMC+: MA Endocrinologie (9), MUMC+: HVC Pieken Maastricht Studie (9), RS: CARIM - R3.01 - Vascular complications of diabetes and the metabolic syndrome, MUMC+: MA Interne Geneeskunde (3), RS: Carim - B01 Blood proteins & engineering, RS: FHML MaCSBio, RS: CARIM - R1 - Thrombosis and haemostasis, RS: CARIM - R1.01 - Blood proteins & engineering, Biochemie, Psychiatry, VU University medical center, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), Internal Medicine, Epidemiology, Genetic Identification, and Clinical Genetics

Subjects
Netherlands Twin Register (NTR), Male, 0301 basic medicine, Receptors, Cytoplasmic and Nuclear/genetics, CHROMOSOME-INACTIVATION, BIOS consortium, Receptors, Cytoplasmic and Nuclear, Septins/genetics, Population genetics, GoNL consortium, Population/genetics, Negative selection, 0302 clinical medicine, X Chromosome Inactivation, Receptors, Non-U.S. Gov't, Genetics (clinical), Netherlands, Genetics & Heredity, Genetics, education.field_of_study, Membrane Glycoproteins, Dosage compensation, DMD LOCUS, Research Support, Non-U.S. Gov't, Receptors, Peptide/genetics, Intracellular Signaling Peptides and Proteins, Peptide/genetics, Single Nucleotide, CARRIERS, TRANSLOCATION, VARIABILITY, Female, Life Sciences & Biomedicine, EXPRESSION, Biochemistry & Molecular Biology, Receptors, Peptide, Population, ADRENOLEUKODYSTROPHY, Biology, Research Support, Polymorphism, Single Nucleotide, Article, X-inactivation, DUCHENNE MUSCULAR-DYSTROPHY, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Journal Article, Humans, Polymorphism, Allele, education, Skewed X-inactivation, Gene, 0604 Genetics, Calcium-Binding Proteins/genetics, Science & Technology, CONSEQUENCES, Calcium-Binding Proteins, Membrane Glycoproteins/genetics, 030104 developmental biology, Cytoplasmic and Nuclear/genetics, PATTERNS, Intracellular Signaling Peptides and Proteins/genetics, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Septins, 030217 neurology & neurosurgery
Abstract

X-inactivation is a well-established dosage compensation mechanism ensuring that X-chromosomal genes are expressed at comparable levels in males and females. Skewed X-inactivation is often explained by negative selection of one of the alleles. We demonstrate that imbalanced expression of the paternal and maternal X-chromosomes is common in the general population and that the random nature of the X-inactivation mechanism can be sufficient to explain the imbalance. To this end, we analyzed blood-derived RNA and whole-genome sequencing data from 79 female children and their parents from the Genome of the Netherlands project. We calculated the median ratio of the paternal over total counts at all X-chromosomal heterozygous single-nucleotide variants with coverage ≥10. We identified two individuals where the same X-chromosome was inactivated in all cells. Imbalanced expression of the two X-chromosomes (ratios ≤0.35 or ≥0.65) was observed in nearly 50% of the population. The empirically observed skewing is explained by a theoretical model where X-inactivation takes place in an embryonic stage in which eight cells give rise to the hematopoietic compartment. Genes escaping X-inactivation are expressed from both alleles and therefore demonstrate less skewing than inactivated genes. Using this characteristic, we identified three novel escapee genes (SSR4, REPS2, and SEPT6), but did not find support for many previously reported escapee genes in blood. Our collective data suggest that skewed X-inactivation is common in the general population. This may contribute to manifestation of symptoms in carriers of recessive X-linked disorders. We recommend that X-inactivation results should not be used lightly in the interpretation of X-linked variants.

Published
2019
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46. Routine Postsurgical Anesthesia Visit to Improve 30-Day Morbidity and Mortality: A Multicenter, Stepped-Wedge Cluster Randomized Interventional Study (the TRACE Study)

Author

Buhre, Wolfgang F F A, Buhre, Wolfgang F F A, Boer, Christa, Boer, Dianne de Korte-de, Stolze, Annick, Posthuma, Linda M, Smit-Fun, Valérie M, van Kuijk, Sander, Noordzij, Peter G, Rinia, Myra, Hering, Jens-Peter, Veld, Bas 't, Scheffer, Gert-Jan, Dirksen, Carmen, Boermeester, Marja, Bonjer, Jaap, Dejong, Cees, Hollmann, Markus W, Breel, J S, van den Brink, I, van Dijk, F, Geurts, J, Glas, W, van Gorp, R, Jwair, A, Koca, F, Lange, I, Preckel, B, van Roy, J P, Theunissen, M., Wensing, A G C L, Werger, A, TRACE Study Investigators, Buhre, Wolfgang F F A, Buhre, Wolfgang F F A, Boer, Christa, Boer, Dianne de Korte-de, Stolze, Annick, Posthuma, Linda M, Smit-Fun, Valérie M, van Kuijk, Sander, Noordzij, Peter G, Rinia, Myra, Hering, Jens-Peter, Veld, Bas 't, Scheffer, Gert-Jan, Dirksen, Carmen, Boermeester, Marja, Bonjer, Jaap, Dejong, Cees, Hollmann, Markus W, Breel, J S, van den Brink, I, van Dijk, F, Geurts, J, Glas, W, van Gorp, R, Jwair, A, Koca, F, Lange, I, Preckel, B, van Roy, J P, Theunissen, M., Wensing, A G C L, Werger, A, and TRACE Study Investigators

Abstract

OBJECTIVE: To study the impact of a standardized postoperative anesthesia visit on 30-day mortality in medium to high-risk elective surgical patients.BACKGROUND: Postoperative complications are the leading cause of perioperative morbidity and mortality. While modified early warning scores (MEWS) were instituted to monitor vital functions and improve postoperative outcome, we hypothesized that complementary anesthesia expertise is needed to adequately identify early deterioration.METHODS: In a prospective, multicenter, stepped-wedge cluster randomized interventional study in nine academic and non-academic hospitals in the Netherlands, we studied the impact of adding standardized postoperative anesthesia visits on day one and three to routine use of MEWS in 5473 patients undergoing elective non-cardiac surgery. Primary outcome was 30-day mortality. Secondary outcomes included: incidence of postoperative complications, length of hospital stay and intensive care unit (ICU) admission.RESULTS: Patients were enrolled between October 2016 and August 2018. Informed consent was obtained from 5473 patients of which 5190 were eligible for statistical analyses, 2490 in the control and 2700 in the intervention group. Thirty-day mortality was 0·56% (n = 14) in the control and 0·44% (n = 12) in the intervention group (odds ratio 0·74, 95%confidence interval 0·34-1·62). Incidence of postoperative complications did not differ between groups except for renal complications which was higher in the control group (1·7% (n = 41) vs. 1·0% (n = 27), p = 0·014). Median length of hospital stay did not differ significantly between groups. During the post-anesthesia visits, for 16% (n = 437) and 11% (n = 293) of patients recommendations were given on day one and three, respectively, of which 67% (n = 293) and 69% (n = 202) were followed up.CONCLUSIONS: The combination of MEWS and a postoperative anesthesia visit did not reduce 30-day mortality. Whether a postoperat

Published
2021

47. Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors

Author

Sabatella, M. (Mariangela), Mantere, T. (Tuomo), Waanders, E. (Esmé), Neveling, K. (Kornelia), Mensenkamp, A. R. (Arjen R), van Dijk, F. (Freerk), Hehir-Kwa, J. Y. (Jayne Y.), Derks, R. (Ronnie), Kwint, M. (Michael), O'Gorman, L. (Luke), Tropa Martins, M. (Madalena), Gidding, C. E. (Corrie E.M.), Lequin, M. H. (Maarten H.), Küsters, B. (Benno), Wesseling, P. (Pieter), Nelen, M. (Marcel), Biegel, J. A. (Jacklyn A.), Hoischen, A. (Alexander), Jongmans, M. C. (Marjolijn C.), Kuiper, R. P. (Roland P.), Sabatella, M. (Mariangela), Mantere, T. (Tuomo), Waanders, E. (Esmé), Neveling, K. (Kornelia), Mensenkamp, A. R. (Arjen R), van Dijk, F. (Freerk), Hehir-Kwa, J. Y. (Jayne Y.), Derks, R. (Ronnie), Kwint, M. (Michael), O'Gorman, L. (Luke), Tropa Martins, M. (Madalena), Gidding, C. E. (Corrie E.M.), Lequin, M. H. (Maarten H.), Küsters, B. (Benno), Wesseling, P. (Pieter), Nelen, M. (Marcel), Biegel, J. A. (Jacklyn A.), Hoischen, A. (Alexander), Jongmans, M. C. (Marjolijn C.), and Kuiper, R. P. (Roland P.)

Abstract

In a subset of pediatric cancers, a germline cancer predisposition is highly suspected based on clinical and pathological findings, but genetic evidence is lacking, which hampers genetic counseling and predictive testing in the families involved. We describe a family with two siblings born from healthy parents who were both neonatally diagnosed with atypical teratoid rhabdoid tumor (ATRT). This rare and aggressive pediatric tumor is associated with biallelic inactivation of SMARCB1, and in 30% of the cases, a predisposing germline mutation is involved. Whereas the tumors of both siblings showed loss of expression of SMARCB1 and acquired homozygosity of the locus, whole exome and whole genome sequencing failed to identify germline or somatic SMARCB1 pathogenic mutations. We therefore hypothesized that the insertion of a pathogenic repeat-rich structure might hamper its detection, and we performed optical genome mapping (OGM) as an alternative strategy to identify structural variation in this locus. Using this approach, an insertion of ~2.8 kb within intron 2 of SMARCB1 was detected. Long-range PCR covering this region remained unsuccessful, but PacBio HiFi genome sequencing identified this insertion to be a SINE-VNTR-Alu, subfamily E (SVA-E) retrotransposon element, which was present in a mosaic state in the mother. This SVA-E insertion disrupts correct splicing of the gene, resulting in loss of a functional allele. This case demonstrates the power of OGM and long-read sequencing to identify genomic variations in high-risk cancer-predisposing genes that are refractory to detection with standard techniques, thereby completing the clinical and molecular diagnosis of such complex cases and greatly improving counseling and surveillance of the families involved.

Published
2021

48. Constitutional 2p16.3 deletion including MSH6 and FBXO11 in a boy with developmental delay and diffuse large B-cell lymphoma

Author

Genetica, Genetica Sectie Genoomdiagnostiek, Cancer, CMM Sectie Molecular Cancer Research, PMC Medisch specialisten, Genetica Klinische Genetica, Child Health, van Engelen, N., van Dijk, F., Waanders, E., Buijs, A., Vermeulen, M. A., Loeffen, J. L.C., Kuiper, R. P., Jongmans, M. C.J., Genetica, Genetica Sectie Genoomdiagnostiek, Cancer, CMM Sectie Molecular Cancer Research, PMC Medisch specialisten, Genetica Klinische Genetica, Child Health, van Engelen, N., van Dijk, F., Waanders, E., Buijs, A., Vermeulen, M. A., Loeffen, J. L.C., Kuiper, R. P., and Jongmans, M. C.J.

Published
2021

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