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1,996 results on '"Dominic, B."'

1. You Only Accept Samples Once: Fast, Self-Correcting Stochastic Variational Inference

Author

Dayta, Dominic B.

Subjects
Statistics - Machine Learning, Computer Science - Machine Learning, Statistics - Computation
Abstract

We introduce YOASOVI, an algorithm for performing fast, self-correcting stochastic optimization for Variational Inference (VI) on large Bayesian heirarchical models. To accomplish this, we take advantage of available information on the objective function used for stochastic VI at each iteration and replace regular Monte Carlo sampling with acceptance sampling. Rather than spend computational resources drawing and evaluating over a large sample for the gradient, we draw only one sample and accept it with probability proportional to the expected improvement in the objective. The following paper develops two versions of the algorithm: the first one based on a naive intuition, and another building up the algorithm as a Metropolis-type scheme. Empirical results based on simulations and benchmark datasets for multivariate Gaussian mixture models show that YOASOVI consistently converges faster (in clock time) and within better optimal neighborhoods than both regularized Monte Carlo and Quasi-Monte Carlo VI algorithms.

Published
2024

2. Variance Control for Black Box Variational Inference Using The James-Stein Estimator

Author

Dayta, Dominic B.

Subjects
Computer Science - Machine Learning, Statistics - Machine Learning
Abstract

Black Box Variational Inference is a promising framework in a succession of recent efforts to make Variational Inference more ``black box". However, in basic version it either fails to converge due to instability or requires some fine-tuning of the update steps prior to execution that hinder it from being completely general purpose. We propose a method for regulating its parameter updates by reframing stochastic gradient ascent as a multivariate estimation problem. We examine the properties of the James-Stein estimator as a replacement for the arithmetic mean of Monte Carlo estimates of the gradient of the evidence lower bound. The proposed method provides relatively weaker variance reduction than Rao-Blackwellization, but offers a tradeoff of being simpler and requiring no fine tuning on the part of the analyst. Performance on benchmark datasets also demonstrate a consistent performance at par or better than the Rao-Blackwellized approach in terms of model fit and time to convergence.

Published
2024

5. Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022)

Author

Luo, Huihui, Gustavsson, Emil K., Macpherson, Hannah, Dominik, Natalia, Zhelcheska, Kristina, Montgomery, Kylie, Anderson, Claire, Yau, Wai Yan, Efthymiou, Stephanie, Turner, Chris, DeTure, Michael, Dickson, Dennis W., Josephs, Keith A., Revesz, Tamas, Lashley, Tammaryn, Halliday, Glenda, Rowe, Dominic B., McCann, Emily, Blair, Ian, Lees, Andrew J., Tienari, Pentti J., Suomalainen, Anu, Molina-Porcel, Laura, Kovacs, Gabor G., Gelpi, Ellen, Hardy, John, Haltia, Matti J., Tucci, Arianna, Jaunmuktane, Zane, Ryten, Mina, Houlden, Henry, and Chen, Zhongbo

Published
2024
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6. Practice variation using the hybrid stage I procedure in congenital heart disease: Results from a national surveyCentral MessagePerspective

Author

Dominic B. Zanaboni, MD, Christopher T. Sower, MD, Sunkyung Yu, MS, Ray Lowery, BA, Jennifer C. Romano, MD, MS, and Jeffrey D. Zampi, MD

Subjects
cardiac catheterization, congenital heart disease, hybrid, hypoplastic left heart syndrome, Diseases of the circulatory (Cardiovascular) system, RC666-701, Surgery, RD1-811
Abstract

Objectives: Hybrid stage I palliation has been used in many clinical scenarios including initial palliation in single ventricle heart disease, a bridge to biventricular repair, a bridge to transplant, and as a destination therapy. There is considerable hybrid stage I palliation practice variation, which we aimed to better understand in this study. Methods: Survey-based assessment of practice variation related to hybrid stage I palliation was sent to congenital heart centers across the United States and Canada. Results: Of the 106 centers surveyed, responses were received from 54 centers (50.9%). Of respondents, 45 centers perform hybrid stage I palliation. Centers most commonly (97.7%) perform hybrid stage I palliation on “high-risk” patients with single ventricle heart disease. Regarding the technical aspects of hybrid stage I palliation, most centers (95.3%) accomplish restrictive pulmonary blood flow using pulmonary artery bands and primarily use changes in oxygen saturation (34.1%) to identify appropriate restriction. Ductal stents are most often used (67.4%) to maintain ductal patency. Only 10 centers (23.3%) routinely enlarge the atrial septal defect. Indications for atrial septal defect intervention varied widely. Most centers (71.9%) discharge patients home to follow with a formal “interstage” program. Conclusions: There is significant variation in practice patterns for hybrid stage I palliation indications, technical aspects, and postoperative care. Therefore, generalizability of single-center studies on outcomes after hybrid stage I palliation is limited. Future multicenter studies are needed to best delineate which patients benefit most from hybrid stage I palliation and to further define optimal approaches to caring for these patients.

Published
2024
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8. Transdiagnostic subgroups of cognitive impairment in early affective and psychotic illness

Author

Wenzel, Julian, Badde, Luzie, Haas, Shalaila S., Bonivento, Carolina, Van Rheenen, Tamsyn E., Antonucci, Linda A., Ruef, Anne, Penzel, Nora, Rosen, Marlene, Lichtenstein, Theresa, Lalousis, Paris Alexandros, Paolini, Marco, Stainton, Alexandra, Dannlowski, Udo, Romer, Georg, Brambilla, Paolo, Wood, Stephen J., Upthegrove, Rachel, Borgwardt, Stefan, Meisenzahl, Eva, Salokangas, Raimo K. R., Pantelis, Christos, Lencer, Rebekka, Bertolino, Alessandro, Kambeitz, Joseph, Koutsouleris, Nikolaos, Dwyer, Dominic B., and Kambeitz-Ilankovic, Lana

Published
2024
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9. Brain texture as a marker of transdiagnostic clinical profiles in patients with recent-onset psychosis and depression

Author

Korda, Alexandra I., Andreou, Christina, Ruef, Anne, Hahn, Lisa, Schmidt, André, Dannlowski, Udo, Kambeitz-Ilankovic, Lana, Dwyer, Dominic B., Kambeitz, Joseph, Wenzel, Julian, Ruhrmann, Stephan, Wood, Stephen J., Salokangas, Raimo K. R., Pantelis, Christos, Schultze-Lutter, Frauke, Meisenzahl, Eva, Brambilla, Paolo, Selvaggi, Pierluigi, Bertolino, Alessandro, Hietala, Jarmo, Upthegrove, Rachel, Lalousis, Paris Alexandros, Riecher-Rössler, Anita, Davatzikos, Christos, Lencer, Rebekka, Koutsouleris, Nikolaos, and Borgwardt, Stefan

Published
2024
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12. Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022)

Author

Huihui Luo, Emil K. Gustavsson, Hannah Macpherson, Natalia Dominik, Kristina Zhelcheska, Kylie Montgomery, Claire Anderson, Wai Yan Yau, Stephanie Efthymiou, Chris Turner, Michael DeTure, Dennis W. Dickson, Keith A. Josephs, Tamas Revesz, Tammaryn Lashley, Glenda Halliday, Dominic B. Rowe, Emily McCann, Ian Blair, Andrew J. Lees, Pentti J. Tienari, Anu Suomalainen, Laura Molina-Porcel, Gabor G. Kovacs, Ellen Gelpi, John Hardy, Matti J. Haltia, Arianna Tucci, Zane Jaunmuktane, Mina Ryten, Henry Houlden, and Zhongbo Chen

Subjects
Neuronal intranuclear inclusion disease, Hornerin, Repeat expansion disorders, Neurology. Diseases of the nervous system, RC346-429
Published
2024
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13. Alterations of Functional Connectivity Dynamics in Affective and Psychotic Disorders

Author

Betz, Linda, Erkens, Anne, Gussmann, Eva, Haas, Shalaila, Hasan, Alkomiet, Hoff, Claudius, Khanyaree, Ifrah, Melo, Aylin, Muckenhuber-Sternbauer, Susanna, Köhler, Janis, Öztürk, Ömer, Penzel, Nora, Popovic, David, Rangnick, Adrian, von Saldern, Sebastian, Sanfelici, Rachele, Spangemacher, Moritz, Tupac, Ana, Urquijo, Maria Fernanda, Weiske, Johanna, Wosgien, Antonia, Blume, Karsten, Gebhardt, Dominika, Kaiser, Nathalie, Milz, Ruth, Nikolaides, Alexandra, Seves, Mauro, Vent, Silke, Wassen, Martina, Andreou, Christina, Egloff, Laura, Harrisberger, Fabienne, Lenz, Claudia, Leanza, Letizia, Mackintosh, Amatya, Smieskova, Renata, Studerus, Erich, Walter, Anna, Widmayer, Sonja, Day, Chris, Iqbal, Mariam, Pelton, Mirabel, Mallikarjun, Pavan, Stainton, Alexandra, Lin, Ashleigh, Denissoff, Alexander, Ellilä, Anu, From, Tiina, Heinimaa, Markus, Ilonen, Tuula, Jalo, Päivi, Laurikainen, Heikki, Luutonen, Antti, Mäkela, Akseli, Paju, Janina, Pesonen, Henri, Säilä, Reetta-Liina, Toivonen, Anna, Turtonen, Otto, Solana, Ana Beatriz, Abraham, Manuela, Hehn, Nicolas, Schirmer, Timo, Altamura, Carlo, Belleri, Marika, Bottinelli, Francesca, Ferro, Adele, Re, Marta, Monzani, Emiliano, Sberna, Maurizio, D’Agostino, Armando, Del Fabro, Lorenzo, Perna, Giampaolo, Nobile, Maria, Alciati, Alessandra, Balestrieri, Matteo, Bonivento, Carolina, Cabras, Giuseppe, Fabbro, Franco, Garzitto, Marco, Piccin, Sara, Hoheisel, Linnea, Kambeitz-Ilankovic, Lana, Wenzel, Julian, Haas, Shalaila S., Antonucci, Linda A., Ruef, Anne, Schultze-Lutter, Frauke, Lichtenstein, Theresa, Rosen, Marlene, Dwyer, Dominic B., Salokangas, Raimo K.R., Lencer, Rebekka, Brambilla, Paolo, Borgwardt, Stephan, Wood, Stephen J., Upthegrove, Rachel, Bertolino, Alessandro, Ruhrmann, Stephan, Meisenzahl, Eva, Koutsouleris, Nikolaos, Fink, Gereon R., Daun, Silvia, and Kambeitz, Joseph

Published
2024
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14. Semiparametric Latent Topic Modeling on Consumer-Generated Corpora

Author

Dayta, Dominic B. and Barrios, Erniel B.

Subjects
Computer Science - Computation and Language, Computer Science - Machine Learning
Abstract

Legacy procedures for topic modelling have generally suffered problems of overfitting and a weakness towards reconstructing sparse topic structures. With motivation from a consumer-generated corpora, this paper proposes semiparametric topic model, a two-step approach utilizing nonnegative matrix factorization and semiparametric regression in topic modeling. The model enables the reconstruction of sparse topic structures in the corpus and provides a generative model for predicting topics in new documents entering the corpus. Assuming the presence of auxiliary information related to the topics, this approach exhibits better performance in discovering underlying topic structures in cases where the corpora are small and limited in vocabulary. In an actual consumer feedback corpus, the model also demonstrably provides interpretable and useful topic definitions comparable with those produced by other methods.

Published
2021

15. Heterogeneity of cortical pTDP-43 inclusion morphologies in amyotrophic lateral sclerosis

Author

Rachel H. Tan, Heather McCann, Claire E. Shepherd, Monica Pinkerton, Srestha Mazumder, Emma M. Devenney, Gabrielle L. Adler, Dominic B. Rowe, Jillian Kril, Glenda M. Halliday, and Matthew C. Kiernan

Subjects
Amyotrophic lateral sclerosis, Frontotemporal lobar degeneration, pTDP-43, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Background Despite the presence of significant cortical pTDP-43 inclusions of heterogeneous morphologies in patients diagnosed with amyotrophic lateral sclerosis (ALS), pathological subclassification is routinely performed in the minority of patients with concomitant frontotemporal dementia (FTD). Objective In order to improve current understanding of the presence and relevance of pathological pTDP-43 subtypes in ALS, the present study examined the pattern of cortical pTDP-43 aggregates in 61 ALS cases without FTD. Results Based on the presence, morphology and composition of pTDP-43 pathology, three distinct ALS-TDP subtypes were delineated: (1) A predominant pattern of pTDP-43 granulofilamentous neuronal inclusions (GFNIs) and grains that were immuno-negative for p62 was identified in 18% of cases designated ALS-TDP type E; (2) neuronal cytoplasmic inclusions (NCIs) that were immuno-positive for both pTDP-43 and p62 were observed in 67% of cases assigned ALS-TDP type B; and (3) scarce cortical pTDP-43 and p62 aggregates were identified in 15% of cases coined ALS-TDP type SC (scarce cortical). Quantitative analyses revealed a significantly greater burden of pTDP-43 GFNI and grains in ALS-TDP type E. Principal component analysis demonstrated significant relationships between GFNIs, grains and ALS-TDP subtypes to support the distinction of subtypes E and B. No significant difference in age at death or disease duration was found between ALS-TDP subgroups to suggest that these subtypes represent earlier or later stages of the same disease process. Instead, a significantly higher ALS-TDP stage, indicating greater topographical spread of pTDP-43, was identified in ALS-TDP type E. Alzheimer’s disease neuropathological change (ABC score ≥ intermediate) and Lewy body disease (Braak stage ≥ IV) was more prevalent in the ALS-TDP type SC cohort, which also demonstrated a significantly lower overall cognitive score. Conclusion In summary, the present study demonstrates that ALS-TDP does not represent a single homogenous neuropathology. We propose the subclassification of ALS-TDP into three distinct subtypes using standard immuno-stains for pTDP-43 and p62 in the motor cortex, which is routinely sampled and evaluated for diagnostic neuropathological characterisation of ALS. We propose that future studies specify both clinicopathological group and pTDP-43 subtype to advance current understanding of the pathogenesis of clinical phenotypes in pTDP-43 proteinopathies, which will have significant relevance to the development of targeted therapies for this heterogeneous disorder.

Published
2023
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18. Toward Generalizable and Transdiagnostic Tools for Psychosis Prediction: An Independent Validation and Improvement of the NAPLS-2 Risk Calculator in the Multisite PRONIA Cohort.

Author

Koutsouleris, Nikolaos, Worthington, Michelle, Dwyer, Dominic B, Kambeitz-Ilankovic, Lana, Sanfelici, Rachele, Fusar-Poli, Paolo, Rosen, Marlene, Ruhrmann, Stephan, Anticevic, Alan, Addington, Jean, Perkins, Diana O, Bearden, Carrie E, Cornblatt, Barbara A, Cadenhead, Kristin S, Mathalon, Daniel H, McGlashan, Thomas, Seidman, Larry, Tsuang, Ming, Walker, Elaine F, Woods, Scott W, Falkai, Peter, Lencer, Rebekka, Bertolino, Alessandro, Kambeitz, Joseph, Schultze-Lutter, Frauke, Meisenzahl, Eva, Salokangas, Raimo KR, Hietala, Jarmo, Brambilla, Paolo, Upthegrove, Rachel, Borgwardt, Stefan, Wood, Stephen, Gur, Raquel E, McGuire, Philip, and Cannon, Tyrone D

Subjects
Humans, Prognosis, Risk Factors, Longitudinal Studies, Psychotic Disorders, Prodromal Symptoms, Clinical high-risk states, First-episode depression, Machine learning, Psychosis prediction, Reciprocal external validation, Risk calculators, Prevention, Mental Health, Brain Disorders, Patient Safety, Mental health, Good Health and Well Being, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract

BackgroundTransition to psychosis is among the most adverse outcomes of clinical high-risk (CHR) syndromes encompassing ultra-high risk (UHR) and basic symptom states. Clinical risk calculators may facilitate an early and individualized interception of psychosis, but their real-world implementation requires thorough validation across diverse risk populations, including young patients with depressive syndromes.MethodsWe validated the previously described NAPLS-2 (North American Prodrome Longitudinal Study 2) calculator in 334 patients (26 with transition to psychosis) with CHR or recent-onset depression (ROD) drawn from the multisite European PRONIA (Personalised Prognostic Tools for Early Psychosis Management) study. Patients were categorized into three risk enrichment levels, ranging from UHR, over CHR, to a broad-risk population comprising patients with CHR or ROD (CHR|ROD). We assessed how risk enrichment and different predictive algorithms influenced prognostic performance using reciprocal external validation.ResultsAfter calibration, the NAPLS-2 model predicted psychosis with a balanced accuracy (BAC) (sensitivity, specificity) of 68% (73%, 63%) in the PRONIA-UHR cohort, 67% (74%, 60%) in the CHR cohort, and 70% (73%, 66%) in patients with CHR|ROD. Multiple model derivation in PRONIA-CHR|ROD and validation in NAPLS-2-UHR patients confirmed that broader risk definitions produced more accurate risk calculators (CHR|ROD-based vs. UHR-based performance: 67% [68%, 66%] vs. 58% [61%, 56%]). Support vector machines were superior in CHR|ROD (BAC = 71%), while ridge logistic regression and support vector machines performed similarly in CHR (BAC = 67%) and UHR cohorts (BAC = 65%). Attenuated psychotic symptoms predicted psychosis across risk levels, while younger age and reduced processing speed became increasingly relevant for broader risk cohorts.ConclusionsClinical-neurocognitive machine learning models operating in young patients with affective and CHR syndromes facilitate a more precise and generalizable prediction of psychosis. Future studies should investigate their therapeutic utility in large-scale clinical trials.

Published
2021

19. Psychosis brain subtypes validated in first-episode cohorts and related to illness remission: results from the PHENOM consortium

Author

Dwyer, Dominic B., Chand, Ganesh B., Pigoni, Alessandro, Khuntia, Adyasha, Wen, Junhao, Antoniades, Mathilde, Hwang, Gyujoon, Erus, Guray, Doshi, Jimit, Srinivasan, Dhivya, Varol, Erdem, Kahn, Rene S., Schnack, Hugo G., Meisenzahl, Eva, Wood, Stephen J., Zhuo, Chuanjun, Sotiras, Aristeidis, Shinohara, Russell T., Shou, Haochang, Fan, Yong, Schaulfelberger, Maristela, Rosa, Pedro, Lalousis, Paris A., Upthegrove, Rachel, Kaczkurkin, Antonia N., Moore, Tyler M., Nelson, Barnaby, Gur, Raquel E., Gur, Ruben C., Ritchie, Marylyn D., Satterthwaite, Theodore D., Murray, Robin M., Di Forti, Marta, Ciufolini, Simone, Zanetti, Marcus V., Wolf, Daniel H., Pantelis, Christos, Crespo-Facorro, Benedicto, Busatto, Geraldo F., Davatzikos, Christos, Koutsouleris, Nikolaos, and Dazzan, Paola

Published
2023
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23. Estimating malaria transmission risk through surveillance of human–vector interactions in northern Ghana

Author

Sylvester Coleman, Yemane Yihdego, Frank Gyamfi, Lena Kolyada, Jon Eric Tongren, Sixte Zigirumugabe, Dominic B. Dery, Kingsley Badu, Kwasi Obiri-Danso, Daniel Boakye, Daniel Szumlas, Jennifer S. Armistead, and Samuel K. Dadzie

Subjects
Anopheles gambiae, Malaria transmission risk, Human behavior observations, Bionomics, Insecticide treated nets(ITNs), Indoor residual spraying, Infectious and parasitic diseases, RC109-216
Abstract

Abstract Background Vector bionomics are important aspects of vector-borne disease control programs. Mosquito-biting risks are affected by environmental, mosquito behavior and human factors, which are important for assessing exposure risk and intervention impacts. This study estimated malaria transmission risk based on vector–human interactions in northern Ghana, where indoor residual spraying (IRS) and insecticide-treated nets (ITNs) have been deployed. Methods Indoor and outdoor human biting rates (HBRs) were measured using monthly human landing catches (HLCs) from June 2017 to April 2019. Mosquitoes collected were identified to species level, and Anopheles gambiae sensu lato (An. gambiae s.l.) samples were examined for parity and infectivity. The HBRs were adjusted using mosquito parity and human behavioral observations. Results Anopheles gambiae was the main vector species in the IRS (81%) and control (83%) communities. Indoor and outdoor HBRs were similar in both the IRS intervention (10.6 vs. 11.3 bites per person per night [b/p/n]; z = −0.33, P = 0.745) and control communities (18.8 vs. 16.4 b/p/n; z = 1.57, P = 0.115). The mean proportion of parous An. gambiae s.l. was lower in IRS communities (44.6%) than in control communities (71.7%). After adjusting for human behavior observations and parity, the combined effect of IRS and ITN utilization (IRS: 37.8%; control: 57.3%) on reducing malaria transmission risk was 58% in IRS + ITN communities and 27% in control communities with ITNs alone (z = −4.07, P

Published
2023
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24. Structural and Functional Brain Patterns Predict Formal Thought Disorder’s Severity and Its Persistence in Recent-Onset Psychosis: Results From the PRONIA Study

Author

Buciuman, Madalina-Octavia, Oeztuerk, Oemer Faruk, Popovic, David, Enrico, Paolo, Ruef, Anne, Bieler, Nadia, Sarisik, Elif, Weiske, Johanna, Dong, Mark Sen, Dwyer, Dominic B., Kambeitz-Ilankovic, Lana, Haas, Shalaila S., Stainton, Alexandra, Ruhrmann, Stephan, Chisholm, Katharine, Kambeitz, Joseph, Riecher-Rössler, Anita, Upthegrove, Rachel, Schultze-Lutter, Frauke, Salokangas, Raimo K.R., Hietala, Jarmo, Pantelis, Christos, Lencer, Rebekka, Meisenzahl, Eva, Wood, Stephen J., Brambilla, Paolo, Borgwardt, Stefan, Falkai, Peter, Antonucci, Linda A., Bertolino, Alessandro, Liddle, Peter, and Koutsouleris, Nikolaos

Published
2023
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26. Structural basis for substrate selection by the SARS-CoV-2 replicase

Author

Malone, Brandon F., Perry, Jason K., Olinares, Paul Dominic B., Lee, Hery W., Chen, James, Appleby, Todd C., Feng, Joy Y., Bilello, John P., Ng, Honkit, Sotiris, Johanna, Ebrahim, Mark, Chua, Eugene Y. D., Mendez, Joshua H., Eng, Ed T., Landick, Robert, Götte, Matthias, Chait, Brian T., Campbell, Elizabeth A., and Darst, Seth A.

Published
2023
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29. The impact of visual dysfunctions in recent-onset psychosis and clinical high-risk state for psychosis

Author

Schwarzer, Johanna M., Meyhoefer, Inga, Antonucci, Linda A., Kambeitz-Ilankovic, Lana, Surmann, Marian, Bienek, Olga, Romer, Georg, Dannlowski, Udo, Hahn, Tim, Korda, Alexandra, Dwyer, Dominic B., Ruef, Anne, Haas, Shalaila S., Rosen, Marlene, Lichtenstein, Theresa, Ruhrmann, Stephan, Kambeitz, Joseph, Salokangas, Raimo K. R., Pantelis, Christos, Schultze-Lutter, Frauke, Meisenzahl, Eva, Brambilla, Paolo, Bertolino, Alessandro, Borgwardt, Stefan, Upthegrove, Rachel, Koutsouleris, Nikolaos, and Lencer, Rebekka

Published
2022
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32. Structural basis of transcriptional regulation by a nascent RNA element, HK022 putRNA

Author

Seungha Hwang, Paul Dominic B. Olinares, Jimin Lee, Jinwoo Kim, Brian T. Chait, Rodney A. King, and Jin Young Kang

Subjects
Science
Abstract

HK022 put is an RNA element that inhibits transcription termination without aids from protein factors. Here, authors solved cryo-EM structures of put-associated RNA polymerase and showed the structure of putRNA and its binding to the RNA polymerase.

Published
2022
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33. Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia

Author

Restuadi, Restuadi, Garton, Fleur C., Benyamin, Beben, Lin, Tian, Williams, Kelly L., Vinkhuyzen, Anna, van Rheenen, Wouter, Zhu, Zhihong, Laing, Nigel G., Mather, Karen A., Sachdev, Perminder S., Ngo, Shyuan T., Steyn, Frederik J., Wallace, Leanne, Henders, Anjali K., Visscher, Peter M., Needham, Merrilee, Mathers, Susan, Nicholson, Garth, Rowe, Dominic B., Henderson, Robert D., McCombe, Pamela A., Pamphlett, Roger, Blair, Ian P., Wray, Naomi R., and McRae, Allan F.

Published
2022
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34. The clinical relevance of formal thought disorder in the early stages of psychosis: results from the PRONIA study

Author

Oeztuerk, Oemer Faruk, Pigoni, Alessandro, Wenzel, Julian, Haas, Shalaila S., Popovic, David, Ruef, Anne, Dwyer, Dominic B., Kambeitz-Ilankovic, Lana, Ruhrmann, Stephan, Chisholm, Katharine, Lalousis, Paris, Griffiths, Sian Lowri, Lichtenstein, Theresa, Rosen, Marlene, Kambeitz, Joseph, Schultze-Lutter, Frauke, Liddle, Peter, Upthegrove, Rachel, Salokangas, Raimo K. R., Pantelis, Christos, Meisenzahl, Eva, Wood, Stephen J., Brambilla, Paolo, Borgwardt, Stefan, Falkai, Peter, Antonucci, Linda A., and Koutsouleris, Nikolaos

Published
2022
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38. Gliomatosis Cerebri Manifested as Parkinsonism Syndrome: A Case Report.

Author

Garcia, Debora González, Casas, Miguel Ángel González, Martínez, Martin Heisi Gómez, and Fee, Dominic B.

Abstract

Introduction: Gliomatosis cerebri (GC) is a diffuse neoplastic process, whose presentation is extremely rare and lacks a characteristic clinical pattern. The objective of this case is to describe the clinical aspects of a patient with GC, in whom symptoms of parkinsonism and neurocognitive issues predominate. Case Report: A 78‐year‐old patient with no significant medical history was referred to the neurology consultation due to balance disturbances accompanied by head tremor. Symptoms of parkinsonism progressively worsened, adding cognitive and neuropsychiatric disorders. Cranial magnetic resonance imaging (MRI) showed diffuse and generalized white matter hyperintensity. Under the suspicion of GC, a frontal lobe biopsy was performed, with a pathology report of diffuse astrocytoma, thus confirming the diagnosis of GC. Conclusion: GC is a disease that presents with nonspecific clinical manifestations, making a clinical diagnosis challenging. It should be suspected in cases of parkinsonism accompanied by other focal neurological disorders. This leads to delayed diagnosis and consequently low incidence. The importance of MRI as a diagnostic aid is highlighted, with biopsy being necessary to confirm the diagnosis. [ABSTRACT FROM AUTHOR]

Published
2024
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39. Disseminated Intracranial and Spinal Neurenteric Cysts: A Case Report and Literature Review.

Author

Feher, Jan Kuschick, Marin-Castañeda, Luis A., Juárez-Tovar, Fernando S., Carrillo-Mezo, Roger, Rosas, Gabriela, Tena-Suck, Martha Lilia, Fleury, Agnès, and Fee, Dominic B.

Subjects
SPINAL cord compression, CEREBELLOPONTILE angle, LITERATURE reviews, CENTRAL nervous system, INTRACRANIAL hypertension, NEUROCYSTICERCOSIS
Abstract

Neurenteric cysts (NECs) are rare congenital, benign lesions of the central nervous system (CNS), predominantly located within the spinal cord. However, they may also occur less frequently within the brainstem, fourth ventricle, or cerebellopontine angle (CPA). Originating from anomalous interactions between embryonic layers, NECs are recognized for their potential to compress adjacent structures. We report a unique case of disseminated NECs exhibiting few to absent symptoms, which represents an unusual presentation of this disease, with only six similar reports in the literature. A 22‐year‐old female presented to our institute with chronic headaches resistant to nonsteroidal anti‐inflammatory drugs (NSAIDs). Initially treated for intracranial hypertension (ICH) secondary to a cyst in the quadrigeminal cistern at the age of 17 via neuroendoscopic surgery and subsequent ventriculoperitoneal shunting, she experienced transient relief. However, follow‐up at 22 years of age revealed multiple cysts in the basal and spinal cisterns, with MRI findings suggestive of neurocysticercosis. Despite treatment with albendazole and corticosteroids, subsequent MRIs showed no change in the size or number of the cysts. Six years later, symptoms had worsened, previously identified cysts had grown, and the detection of new cysts prompted surgical intervention. Histopathological examination confirmed the presence of NECs. This case highlights the diagnostic challenges posed by NECs, especially in regions endemic for neurocysticercosis, where clinical and radiological findings may initially suggest this condition. It underscores the importance of considering NECs in the differential diagnosis of cystic lesions in the CNS, even in the absence of typical symptoms of spinal cord compression. The recurrence and spread of NECs post‐treatment demand a comprehensive management approach, encompassing surgical intervention and close monitoring. [ABSTRACT FROM AUTHOR]

Published
2024
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40. A series of neutral alkaline earth metal hydride complexes supported by a bulky, unsymmetrical β-diketiminate ligand, [{(Dip/TCHPNacnac)M(μ-H)}2] (M = Mg, Ca, Sr or Ba).

Author

Kennedy, Dominic B., Evans, Matthew J., Jones, Dafydd D. L., Parr, Joseph M., Hill, Michael S., and Jones, Cameron

Subjects
*ALKALINE earth metals, *HYDRIDES, *LIGANDS (Chemistry), *METAL complexes, *STRONTIUM, *MAGNESIUM
Abstract

A bulky, unsymmetrical β-diketiminate ligand, [HC{MeCN(Dip)}{MeCN(TCHP)}]− (Dip/TCHPNacnac; Dip = 2,6-diisopropylphenyl, TCHP = 2,4,6-tricyclohexylphenyl), has been utilised in the preparation of a series of magnesium alkyl and calcium, strontium and barium amide complexes. Reaction of these with PhSiH3 afforded the first complete series of β-diketiminato heavier group 2 metal hydride complexes, [{(Dip/TCHPNacnac)M(μ-H)}2] (M = Mg, Ca, Sr or Ba). The unsymmetrical nature of the β-diketiminate ligand seemingly promotes stabilising interactions of ligand Dip groups with the metal centres in the Ca, Sr and Ba hydride complexes. [ABSTRACT FROM AUTHOR]

Published
2024
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41. Drug‐Induced Intracranial Pressure Increase: Disproportionality Analysis of the Public Version of the FDA Event Reporting System.

Author

Xu, Caibing, Zhang, Jinghua, Zhang, Yuxia, Sun, Qiuyan, Yang, Xuedong, Fang, Wei, and Fee, Dominic B.

Subjects
INTRACRANIAL pressure, SIGNAL detection, DATABASES, SOMATOTROPIN, ACETAZOLAMIDE
Abstract

Objective: This study is aimed at identifying the most common drugs associated with the risk of intracranial pressure increase (IPI) based on the US Food and Drug Administration Adverse Event Reporting System (FAERS) database. Methods: OpenVigil 2.1 was used to query the FAERS database and data from the first quarter of 2004 to the third quarter of 2022 were retrieved. Pharmacovigilance tools were employed for the quantitative detection of signals, where a signal represents a drug‐induced adverse event, including the reporting odds ratio (ROR > 1 with 95% confidence interval, the reports number ≥ 2) and proportional reporting ratio (PRR > 2, χ2 ≥ 4). Results: Among the 12,060,031 adverse event reports, there were 3113 cases in which drugs were the primary suspect cause of IPI. Drug‐induced intracranial pressure increase (DIPI) was more often observed in young females. The Top 5 drugs with the highest ROR and PRR were minocycline, doxycycline, acetazolamide, somatropin recombinant, and cytarabine. Conclusion: Potential risks of DIPI should be closely monitored in clinical practice. Our study is consistent with clinical observations, which call for further research to establish the basis of these drugs and IPI. [ABSTRACT FROM AUTHOR]

Published
2024
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42. Gαi2-induced conductin/axin2 condensates inhibit Wnt/β-catenin signaling and suppress cancer growth

Author

Cezanne Miete, Gonzalo P. Solis, Alexey Koval, Martina Brückner, Vladimir L. Katanaev, Jürgen Behrens, and Dominic B. Bernkopf

Subjects
Science
Abstract

Wnt/β-catenin signalling is frequently hyperactivated in colorectal carcinoma (CRC). Here the authors show that Gαi2 inhibits this signalling pathway by promoting the condensation of conductin/axin2 and β-catenin degradation, and consequently suppresses CRC growth.

Published
2022
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43. Immunodominant surface epitopes power immune evasion in the African trypanosome

Author

Anastasia Gkeka, Francisco Aresta-Branco, Gianna Triller, Evi P. Vlachou, Monique van Straaten, Mirjana Lilic, Paul Dominic B. Olinares, Kathryn Perez, Brian T. Chait, Renata Blatnik, Thomas Ruppert, Joseph P. Verdi, C. Erec Stebbins, and F. Nina Papavasiliou

Subjects
CP: Immunology, Biology (General), QH301-705.5
Abstract

Summary: The African trypanosome survives the immune response of its mammalian host by antigenic variation of its major surface antigen (the variant surface glycoprotein or VSG). Here we describe the antibody repertoires elicited by different VSGs. We show that the repertoires are highly restricted and are directed predominantly to distinct epitopes on the surface of the VSGs. They are also highly discriminatory; minor alterations within these exposed epitopes confer antigenically distinct properties to these VSGs and elicit different repertoires. We propose that the patterned and repetitive nature of the VSG coat focuses host immunity to a restricted set of immunodominant epitopes per VSG, eliciting a highly stereotyped response, minimizing cross-reactivity between different VSGs and facilitating prolonged immune evasion through epitope variation.

Published
2023
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49. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author

van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H., Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A., Ross, Jay P., Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, Andre G., Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Traynor, Bryan J., Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M., Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Hübner, Christian A., Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Glavač, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, Beben, Henderson, Robert D., Furlong, Sarah, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Ngo, Shyuan T., Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J., Williams, Kelly L., Mather, Karen A., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, de Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Curtis, Charles J., Breen, Gerome, Glass, Jonathan D., Brown, Jr., Robert H., Landers, John E., Shaw, Christopher E., Andersen, Peter M., Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Davey Smith, George, Gaunt, Tom R., Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H., and Veldink, Jan H.

Published
2021
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50. Cognitive subtypes in recent onset psychosis: distinct neurobiological fingerprints?

Author

Wenzel, Julian, Haas, Shalaila S., Dwyer, Dominic B., Ruef, Anne, Oeztuerk, Oemer Faruk, Antonucci, Linda A., von Saldern, Sebastian, Bonivento, Carolina, Garzitto, Marco, Ferro, Adele, Paolini, Marco, Blautzik, Janusch, Borgwardt, Stefan, Brambilla, Paolo, Meisenzahl, Eva, Salokangas, Raimo K. R., Upthegrove, Rachel, Wood, Stephen J., Kambeitz, Joseph, Koutsouleris, Nikolaos, and Kambeitz-Ilankovic, Lana

Published
2021
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