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411 results on '"Haeusler M"'

1. From Technology to Strategy: Robotic Fabrication and Human Robot Collaboration for Increasing AEC Capacities

Author

Reinhardt, Dagmar, Haeusler, M. Hank, Chaari, Fakher, Series Editor, Gherardini, Francesco, Series Editor, Ivanov, Vitalii, Series Editor, Haddar, Mohamed, Series Editor, Cavas-Martínez, Francisco, Editorial Board Member, di Mare, Francesca, Editorial Board Member, Kwon, Young W., Editorial Board Member, Trojanowska, Justyna, Editorial Board Member, Xu, Jinyang, Editorial Board Member, Barberio, Maurizio, editor, Colella, Micaela, editor, Figliola, Angelo, editor, and Battisti, Alessandra, editor

Published
2024
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5. Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening

Author

Boyle, B, Morris, JK, McConkey, R, Garne, E, Loane, M, Addor, MC, Gatt, M, Haeusler, M, Latos-Bielenska, A, Lelong, N, McDonnell, R, Mullaney, C, O’Mahony, M, and Dolk, H

Subjects
Intellectual and Developmental Disabilities (IDD), Prevention, Genetics, Conditions Affecting the Embryonic and Fetal Periods, Pediatric, Perinatal Period - Conditions Originating in Perinatal Period, Brain Disorders, Clinical Research, Down Syndrome, Reproductive health and childbirth, Congenital, Good Health and Well Being, Adult, Europe, Female, Humans, Maternal Age, Middle Aged, Pregnancy, Pregnancy Outcome, Pregnancy, Multiple, Prenatal Diagnosis, Prevalence, Risk, Risk Assessment, Twins, Dizygotic, Twins, Monozygotic, Young Adult, Concordance, Down syndrome, monozygotic and dizygotic pregnancies, multiple births, pregnancy outcomes, twins, Medical and Health Sciences, Obstetrics & Reproductive Medicine
Abstract

ObjectiveTo determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome.DesignPopulation-based prevalence study based on EUROCAT congenital anomaly registries.SettingEight European countries.Population14.8 million births 1990-2009; 2.89% multiple births.MethodsDS cases included livebirths, fetal deaths from 20 weeks, and terminations of pregnancy for fetal anomaly (TOPFA). Zygosity is inferred from like/unlike sex for birth denominators, and from concordance for DS cases.Main outcome measuresRelative risk (RR) of DS per fetus/baby from multiple versus singleton pregnancies and per pregnancy in monozygotic/dizygotic versus singleton pregnancies. Proportion of prenatally diagnosed and pregnancy outcome.Statistical analysisPoisson and logistic regression stratified for maternal age, country and time.ResultsOverall, the adjusted (adj) RR of DS for fetus/babies from multiple versus singleton pregnancies was 0.58 (95% CI 0.53-0.62), similar for all maternal ages except for mothers over 44, for whom it was considerably lower. In 8.7% of twin pairs affected by DS, both co-twins were diagnosed with the condition. The adjRR of DS for monozygotic versus singleton pregnancies was 0.34 (95% CI 0.25-0.44) and for dizygotic versus singleton pregnancies 1.34 (95% CI 1.23-1.46). DS fetuses from multiple births were less likely to be prenatally diagnosed than singletons (adjOR 0.62 [95% CI 0.50-0.78]) and following diagnosis less likely to be TOPFA (adjOR 0.40 [95% CI 0.27-0.59]).ConclusionsThe risk of DS per fetus/baby is lower in multiple than singleton pregnancies. These estimates can be used for genetic counselling and prenatal screening.

Published
2014

12. There is an obstetrical dilemma: Misconceptions about the evolution of human childbirth and pelvic form

Author

Grunstra, N D S; https://orcid.org/0000-0002-6708-2245, Betti, L; https://orcid.org/0000-0003-2895-9718, Fischer, B; https://orcid.org/0000-0002-4492-8906, Haeusler, M; https://orcid.org/0000-0002-9100-4183, Pavlicev, M; https://orcid.org/0000-0001-8439-9351, Stansfield, E; https://orcid.org/0000-0001-8548-0995, Trevathan, W, Webb, N M; https://orcid.org/0000-0002-7579-703X, Wells, J C K; https://orcid.org/0000-0003-0411-8025, Rosenberg, K R; https://orcid.org/0000-0003-4101-5017, Mitteroecker, P; https://orcid.org/0000-0002-5308-3837, Grunstra, N D S; https://orcid.org/0000-0002-6708-2245, Betti, L; https://orcid.org/0000-0003-2895-9718, Fischer, B; https://orcid.org/0000-0002-4492-8906, Haeusler, M; https://orcid.org/0000-0002-9100-4183, Pavlicev, M; https://orcid.org/0000-0001-8439-9351, Stansfield, E; https://orcid.org/0000-0001-8548-0995, Trevathan, W, Webb, N M; https://orcid.org/0000-0002-7579-703X, Wells, J C K; https://orcid.org/0000-0003-0411-8025, Rosenberg, K R; https://orcid.org/0000-0003-4101-5017, and Mitteroecker, P; https://orcid.org/0000-0002-5308-3837

Abstract

Compared to other primates, modern humans face high rates of maternal and neonatal morbidity and mortality during childbirth. Since the early 20th century, this “difficulty” of human parturition has prompted numerous evolutionary explanations, typically assuming antagonistic selective forces acting on maternal and fetal traits, which has been termed the “obstetrical dilemma.” Recently, there has been a growing tendency among some anthropologists to question the difficulty of human childbirth and its evolutionary origin in an antagonistic selective regime. Partly, this stems from the motivation to combat increasing pathologization and overmedicalization of childbirth in industrialized countries. Some authors have argued that there is no obstetrical dilemma at all, and that the difficulty of childbirth mainly results from modern lifestyles and inappropriate and patriarchal obstetric practices. The failure of some studies to identify biomechanical and metabolic constraints on pelvic dimensions is sometimes interpreted as empirical support for discarding an obstetrical dilemma. Here we explain why these points are important but do not invalidate evolutionary explanations of human childbirth. We present robust empirical evidence and solid evolutionary theory supporting an obstetrical dilemma, yet one that is much more complex than originally conceived in the 20th century. We argue that evolutionary research does not hinder appropriate midwifery and obstetric care, nor does it promote negative views of female bodies. Understanding the evolutionary entanglement of biological and sociocultural factors underlying human childbirth can help us to understand individual variation in the risk factors of obstructed labor, and thus can contribute to more individualized maternal care.

Published
2023

15. Structural mapping of GABRB3 variants reveals genotype–phenotype correlations

Author

Johannesen, K.M. Iqbal, S. Guazzi, M. Mohammadi, N.A. Pérez-Palma, E. Schaefer, E. De Saint Martin, A. Abiwarde, M.T. McTague, A. Pons, R. Piton, A. Kurian, M.A. Ambegaonkar, G. Firth, H. Sanchis-Juan, A. Deprez, M. Jansen, K. De Waele, L. Briltra, E.H. Verbeek, N.E. van Kempen, M. Fazeli, W. Striano, P. Zara, F. Visser, G. Braakman, H.M.H. Haeusler, M. Elbracht, M. Vaher, U. Smol, T. Lemke, J.R. Platzer, K. Kennedy, J. Klein, K.M. Au, P.Y.B. Smyth, K. Kaplan, J. Thomas, M. Dewenter, M.K. Dinopoulos, A. Campbell, A.J. Lal, D. Lederer, D. Liao, V.W.Y. Ahring, P.K. Møller, R.S. Gardella, E.

Abstract

Purpose: Pathogenic variants in GABRB3 have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder epilepsy syndromes and mild intellectual disability (ID). In this study, we analyzed a large cohort of individuals with GABRB3 variants to deepen the phenotypic understanding and investigate genotype–phenotype correlations. Methods: Through an international collaboration, we analyzed electro-clinical data of unpublished individuals with variants in GABRB3, and we reviewed previously published cases. All missense variants were mapped onto the 3-dimensional structure of the GABRB3 subunit, and clinical phenotypes associated with the different key structural domains were investigated. Results: We characterized 71 individuals with GABRB3 variants, including 22 novel subjects, expressing a wide spectrum of phenotypes. Interestingly, phenotypes correlated with structural locations of the variants. Generalized epilepsy, with a median age at onset of 12 months, and mild-to-moderate ID were associated with variants in the extracellular domain. Focal epilepsy with earlier onset (median: age 4 months) and severe ID were associated with variants in both the pore-lining helical transmembrane domain and the extracellular domain. Conclusion: These genotype–phenotype correlations will aid the genetic counseling and treatment of individuals affected by GABRB3-related disorders. Future studies may reveal whether functional differences underlie the phenotypic differences. © 2021 American College of Medical Genetics and Genomics

Published
2022

25. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Author

Motelow, JE, Povysil, G, Dhindsa, RS, Stanley, KE, Allen, AS, Feng, Y-CA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Cusick, C, Singh, T, Heyne, H, Byrnes, AE, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Gupta, N, Neale, BM, Cavalleri, GL, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Hakonarson, H, Heinzen, EL, Helbig, I, Kwan, P, Marson, AG, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Stewart, R, Weckhuysen, S, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, Krause, R, May, P, McKenna, K, Regan, BM, Bennett, CA, Leu, C, Leech, SL, O'Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Ali, QZ, Sadoway, TR, Krestel, H, Schaller, A, Papacostas, SS, Kousiappa, I, Tanteles, GA, Christou, Y, Sterbova, K, Vlckova, M, Sedlackova, L, Lassuthova, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Neubauer, BA, Zimprich, F, Feucht, M, Reinthaler, EM, Kunz, WS, Zsurka, G, Surges, R, Baumgartner, T, von Wrede, R, Pendziwiat, M, Muhle, H, Rademacher, A, van Baalen, A, von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Muller-Schluter, K, Kluger, G, Haeusler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F, Lauxmann, S, Bosselmann, C, Kegele, J, Hengsbach, C, Rau, S, Steinhoff, BJ, Schulze-Bonhage, A, Borggraefe, I, Schankin, CJ, Schubert-Bast, S, Schreiber, H, Mayer, T, Korinthenberg, R, Brockmann, K, Wolff, M, Dennig, D, Madeleyn, R, Kalviainen, R, Saarela, A, Timonen, O, Linnankivi, T, Lehesjoki, A-E, Rheims, S, Lesca, G, Ryvlin, P, Maillard, L, Valton, L, Derambure, P, Bartolomei, F, Hirsch, E, Michel, V, Chassoux, F, Rees, M, Chung, S-K, Pickrell, WO, Powell, R, Baker, MD, Fonferko-Shadrach, B, Lawthom, C, Anderson, J, Schneider, N, Balestrini, S, Zagaglia, S, Braatz, V, Johnson, MR, Auce, P, Sills, GJ, Baum, LW, Sham, PC, Cherny, SS, Lui, CHT, Delanty, N, Doherty, CP, Shukralla, A, El-Naggar, H, Widdess-Walsh, P, Barisi, N, Canafoglia, L, Franceschetti, S, Castellotti, B, Granata, T, Ragona, F, Zara, F, Iacomino, M, Riva, A, Madia, F, Vari, MS, Salpietro, V, Scala, M, Mancardi, MM, Nobili, L, Amadori, E, Giacomini, T, Bisulli, F, Pippucci, T, Licchetta, L, Minardi, R, Tinuper, P, Muccioli, L, Mostacci, B, Gambardella, A, Labate, A, Annesi, G, Manna, L, Gagliardi, M, Parrini, E, Mei, D, Vetro, A, Bianchini, C, Montomoli, M, Doccini, V, Barba, C, Hirose, S, Ishii, A, Suzuki, T, Inoue, Y, Yamakawa, K, Beydoun, A, Nasreddine, W, Zgheib, NK, Tumiene, B, Utkus, A, Sadleir, LG, King, C, Caglayan, SH, Arslan, M, Yapici, Z, Topaloglu, P, Kara, B, Yis, U, Turkdogan, D, Gundogdu-Eken, A, Bebek, N, Tsai, M-H, Ho, C-J, Lin, C-H, Lin, K-L, Chou, I-J, Poduri, A, Shiedley, BR, Shain, C, Noebels, JL, Goldman, A, Busch, RM, Jehi, L, Najm, IM, Ferguson, L, Khoury, J, Glauser, TA, Clark, PO, Buono, RJ, Ferraro, TN, Sperling, MR, Lo, W, Privitera, M, French, JA, Schachter, S, Kuzniecky, R, Devinsky, O, Hegde, M, Greenberg, DA, Ellis, CA, Goldberg, E, Helbig, KL, Cosico, M, Vaidiswaran, P, Fitch, E, Berkovic, SF, Lerche, H, Lowenstein, DH, Goldstein, DB, Motelow, JE, Povysil, G, Dhindsa, RS, Stanley, KE, Allen, AS, Feng, Y-CA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Cusick, C, Singh, T, Heyne, H, Byrnes, AE, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Gupta, N, Neale, BM, Cavalleri, GL, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Hakonarson, H, Heinzen, EL, Helbig, I, Kwan, P, Marson, AG, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Stewart, R, Weckhuysen, S, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, Krause, R, May, P, McKenna, K, Regan, BM, Bennett, CA, Leu, C, Leech, SL, O'Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Ali, QZ, Sadoway, TR, Krestel, H, Schaller, A, Papacostas, SS, Kousiappa, I, Tanteles, GA, Christou, Y, Sterbova, K, Vlckova, M, Sedlackova, L, Lassuthova, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Neubauer, BA, Zimprich, F, Feucht, M, Reinthaler, EM, Kunz, WS, Zsurka, G, Surges, R, Baumgartner, T, von Wrede, R, Pendziwiat, M, Muhle, H, Rademacher, A, van Baalen, A, von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Muller-Schluter, K, Kluger, G, Haeusler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F, Lauxmann, S, Bosselmann, C, Kegele, J, Hengsbach, C, Rau, S, Steinhoff, BJ, Schulze-Bonhage, A, Borggraefe, I, Schankin, CJ, Schubert-Bast, S, Schreiber, H, Mayer, T, Korinthenberg, R, Brockmann, K, Wolff, M, Dennig, D, Madeleyn, R, Kalviainen, R, Saarela, A, Timonen, O, Linnankivi, T, Lehesjoki, A-E, Rheims, S, Lesca, G, Ryvlin, P, Maillard, L, Valton, L, Derambure, P, Bartolomei, F, Hirsch, E, Michel, V, Chassoux, F, Rees, M, Chung, S-K, Pickrell, WO, Powell, R, Baker, MD, Fonferko-Shadrach, B, Lawthom, C, Anderson, J, Schneider, N, Balestrini, S, Zagaglia, S, Braatz, V, Johnson, MR, Auce, P, Sills, GJ, Baum, LW, Sham, PC, Cherny, SS, Lui, CHT, Delanty, N, Doherty, CP, Shukralla, A, El-Naggar, H, Widdess-Walsh, P, Barisi, N, Canafoglia, L, Franceschetti, S, Castellotti, B, Granata, T, Ragona, F, Zara, F, Iacomino, M, Riva, A, Madia, F, Vari, MS, Salpietro, V, Scala, M, Mancardi, MM, Nobili, L, Amadori, E, Giacomini, T, Bisulli, F, Pippucci, T, Licchetta, L, Minardi, R, Tinuper, P, Muccioli, L, Mostacci, B, Gambardella, A, Labate, A, Annesi, G, Manna, L, Gagliardi, M, Parrini, E, Mei, D, Vetro, A, Bianchini, C, Montomoli, M, Doccini, V, Barba, C, Hirose, S, Ishii, A, Suzuki, T, Inoue, Y, Yamakawa, K, Beydoun, A, Nasreddine, W, Zgheib, NK, Tumiene, B, Utkus, A, Sadleir, LG, King, C, Caglayan, SH, Arslan, M, Yapici, Z, Topaloglu, P, Kara, B, Yis, U, Turkdogan, D, Gundogdu-Eken, A, Bebek, N, Tsai, M-H, Ho, C-J, Lin, C-H, Lin, K-L, Chou, I-J, Poduri, A, Shiedley, BR, Shain, C, Noebels, JL, Goldman, A, Busch, RM, Jehi, L, Najm, IM, Ferguson, L, Khoury, J, Glauser, TA, Clark, PO, Buono, RJ, Ferraro, TN, Sperling, MR, Lo, W, Privitera, M, French, JA, Schachter, S, Kuzniecky, R, Devinsky, O, Hegde, M, Greenberg, DA, Ellis, CA, Goldberg, E, Helbig, KL, Cosico, M, Vaidiswaran, P, Fitch, E, Berkovic, SF, Lerche, H, Lowenstein, DH, and Goldstein, DB

Abstract

Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic variation is unknown. As part of the ongoing Epi25 Collaboration, we performed a whole-exome sequencing analysis of 13,487 epilepsy-affected individuals and 15,678 control individuals. While prior Epi25 studies focused on gene-based collapsing analyses, we asked how the pattern of variation within genes differs by epilepsy type. Specifically, we compared the genetic architectures of severe developmental and epileptic encephalopathies (DEEs) and two generally less severe epilepsies, genetic generalized epilepsy and non-acquired focal epilepsy (NAFE). Our gene-based rare variant collapsing analysis used geographic ancestry-based clustering that included broader ancestries than previously possible and revealed novel associations. Using the missense intolerance ratio (MTR), we found that variants in DEE-affected individuals are in significantly more intolerant genic sub-regions than those in NAFE-affected individuals. Only previously reported pathogenic variants absent in available genomic datasets showed a significant burden in epilepsy-affected individuals compared with control individuals, and the ultra-rare pathogenic variants associated with DEE were located in more intolerant genic sub-regions than variants associated with non-DEE epilepsies. MTR filtering improved the yield of ultra-rare pathogenic variants in affected individuals compared with control individuals. Finally, analysis of variants in genes without a disease association revealed a significant burden of loss-of-function variants in the genes most intolerant to such variation, indicating additional epilepsy-risk genes yet to be discovered. Taken together, our study suggests that genic and sub-genic intolerance are critical characteristics for interpreting the effects of variation in genes that influence epilepsy.

Published
2021

34. Keeping up with the Code - Communicating the Decision Making History of Architectural Scripts

Author

Werner, LC, Koering, D, Zavoleas, Y, Hamilton, W, Butler, A, Gardner, N, Haeusler, M, Ramos Jaime, C, Werner, LC, Koering, D, Zavoleas, Y, Hamilton, W, Butler, A, Gardner, N, Haeusler, M, and Ramos Jaime, C

Abstract

As the architecture industry engages computational methods to automate and optimise design processes, decision-making becomes embedded and hidden within complex code. Even where employees understand the procedure and logic of architectural scripts they may struggle to understand those developed by others and used on different projects. Accordingly, this paper outlines the research and development of a workflow to trace and document the decision-making history (DMH) of architectural scripts. This develops the relational database Huginn to test the feasibility of tracing decision-making history in scripting through a Python Web framework that sends data in a JavaScript Object Notation (JSON) format from Grasshopper. The research outcomes successfully demonstrate a system that can link a series of objects to their `decision' origins. This contributes to informing the development of theoretically-grounded coding protocols and simultaneously demystifying the complexity of architectural scripting and communicating the significance of data-augmented decision making within contemporary architectural design processes.

Published
2020

35. Drawing Recognition - Integrating Machine Learning Systems into Architectural Design Workflows

Author

Werner, LC, Koering, D, Zavoleas, Y, Brown, L, Yip, M, Gardner, N, Haeusler, M, Khean, N, Ramos Jaime, C, Werner, LC, Koering, D, Zavoleas, Y, Brown, L, Yip, M, Gardner, N, Haeusler, M, Khean, N, and Ramos Jaime, C

Abstract

Machine Learning (ML) has valuable applications that are yet to be proliferated in the AEC industry. Yet, ML offers arguably significant new ways to produce and assist design. However, ML tools are too often out of the reach of designers, severely limiting opportunities to improve the methods by which designers design. To address this and to optimise the practices of designers, the research aims to create a ML tool that can be integrated into architectural design workflows. Thus, this research investigates how ML can be used to universally move BIM data across various design platforms through the development of a convolutional neural network (CNN) for the recognition and labelling of rooms within floor plan images of multi-residential apartments. The effects of this computation and thinking shift will have meaningful impacts on future practices enveloping all major aspects of our built environment from designing, to construction to management.

Published
2020

36. Designing Bio-Shelters: Improving Water Quality and Biodiversity in the Bays Precinct through Dynamic Data-Driven Approaches

Author

Zavoleas, Y, Haeusler, M, Dunn, K, Bishop, M, Dafforn, K, Schaefer, N, Sedano, F, Yu, DK, Zavoleas, Y, Haeusler, M, Dunn, K, Bishop, M, Dafforn, K, Schaefer, N, Sedano, F, and Yu, DK

Abstract

The Bio-Shelters project applies advanced computational methods utilised by architects to design green coastal landscape infrastructure intended for threatened marine ecosystems. Nature’s logic is adapted to create colonies of species other than human. Advanced computation is applied to design 3-dimensional seawall structures supporting ecologically important marine organisms at urbanised coastlines. The project aims to enhance the abundances of native habitat-forming organisms, which areoften missing or found in low numbers due to environmental degrading. This paper presents the results of this study, by also revisiting key moments and challenges met and compared along its way.

Published
2020

37. Simulation of Plant-Agent Interactions in a Landscape Information Model

Author

Zavoleas, Y, White, M, Haeusler, M, Zavoleas, Y, White, M, and Haeusler, M

Abstract

An individual based model simulation within a digital landscape information model is used to generate and evolve a planting scheme for a given site. Plants are simulated as individual agents and over time those that are more suited to their environment and the designers’ goals survive, thrive and spread.

Published
2020

41. Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly: a registry-based study in 14 European countries 1984–2007

Author

Boyle, B, McConkey, R, Garne, E, Loane, M, Addor, M C, Bakker, M K, Boyd, P A, Gatt, M, Greenlees, R, Haeusler, M, Klungsyr, K, Latos-Bielenska, A, Lelong, N, McDonnell, R, Métneki, J, Mullaney, C, Nelen, V, OʼMahony, M, Pierini, A, Rankin, J, Rissmann, A, Tucker, D, Wellesley, D, and Dolk, H

Published
2013
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