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1. MagVector/MFX-2 - a planetary laboratory on the International Space Station (ISS): Electromagnetic simulation and inversion of magnetic field data from planetary and asteroid analogs

Author

Börner, J., Garbade, S., Keßler, S. S., Konigorski, D., Schmid, V., Schmitt, L., Schneider, C., Sohl, F., and Spitzer, K.

Subjects
asteroids, horizon Mission, International Space Station (ISS), numerical simulation, magnetostatics, terrestrial planets, electromagnetic induction, MFX-2 experiment
Published
2022

2. Effects of eight neuropsychiatric copy number variants on human brain structure

Author

Modenato, C., Kumar, K., Moreau, C., Martin-Brevet, S., Huguet, G., Schramm, C., Jean-Louis, M., Martin, C. -O., Younis, N., Tamer, P., Douard, E., Thebault-Dagher, F., Cote, V., Charlebois, A. -R., Deguire, F., Maillard, A. M., Rodriguez-Herreros, B., Pain, A., Richetin, S., Addor, M. -C., Andrieux, J., Arveiler, B., Baujat, G., Sloan-Bena, F., Belfiore, M., Bonneau, D., Bouquillon, S., Boute, O., Brusco, A., Busa, T., Caberg, J. -H., Campion, D., Colombert, V., Cordier, M. -P., David, A., Debray, F. -G., Delrue, M. -A., Doco-Fenzy, M., Dunkhase-Heinl, U., Edery, P., Fagerberg, C., Faivre, L., Forzano, F., Genevieve, D., Gerard, M., Giachino, D., Guichet, A., Guillin, O., Heron, D., Isidor, B., Jacquette, A., Jaillard, S., Journel, H., Keren, B., Lacombe, D., Lebon, S., Le Caignec, C., Lemaitre, M. -P., Lespinasse, J., Mathieu-Dramart, M., Mercier, S., Mignot, C., Missirian, C., Petit, F., Pilekaer Sorensen, K., Pinson, L., Plessis, G., Prieur, F., Raymond, A., Rooryck-Thambo, C., Rossi, M., Sanlaville, D., Schlott Kristiansen, B., Schluth-Bolard, C., Till, M., Van Haelst, M., Van Maldergem, L., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, J. E., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., Laguerre, K., Levy, S., Cavanagh, A. L., Llorens, A. V., Campe, K. L., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M. N., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith-Packard, B., Gallagher, A. S., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Melie-Garcia, L., Kushan, L., Silva, A. I., van den Bree, M. B. M., Linden, D. E. J., Owen, M. J., Hall, J., Lippe, S., Chakravarty, M., Bzdok, D., Bearden, C. E., Draganski, B., Jacquemont, S., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), 16p11.2 European Consortium, Simons Searchlight Consortium, Psychiatrie & Neuropsychologie, RS: MHeNs - R2 - Mental Health, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, School for Mental Health & Neuroscience, RS: MHeNs - R3 - Neuroscience, Addor, M.C., Andrieux, J., Arveiler, B., Baujat, G., Sloan-Béna, F., Belfiore, M., Bonneau, D., Bouquillon, S., Boute, O., Brusco, A., Busa, T., Caberg, J.H., Campion, D., Colombert, V., Cordier, M.P., David, A., Debray, F.G., Delrue, M.A., Doco-Fenzy, M., Dunkhase-Heinl, U., Edery, P., Fagerberg, C., Faivre, L., Forzano, F., Genevieve, D., Gérard, M., Giachino, D., Guichet, A., Guillin, O., Héron, D., Isidor, B., Jacquette, A., Jaillard, S., Journel, H., Keren, B., Lacombe, D., Lebon, S., Le Caignec, C., Lemaître, M.P., Lespinasse, J., Mathieu-Dramart, M., Mercier, S., Mignot, C., Missirian, C., Petit, F., Pilekær Sørensen, K., Pinson, L., Plessis, G., Prieur, F., Raymond, A., Rooryck-Thambo, C., Rossi, M., Sanlaville, D., Schlott Kristiansen, B., Schluth-Bolard, C., Till, M., Van Haelst, M., Van Maldergem, L., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A.L., Benedetti, M., Berg, J., Berman, J., Berry, L.N., Bibb, A.L., Blaskey, L., Brennan, J., Brewton, C.M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A.G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, J.E., Evans, Y.L., Findlay, A., Fischbach, G.D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S.E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F.I., Jenkins, J., Jeremy, R.J., Johnson, K., Kanne, S.M., Kessler, S., Khan, S.Y., Ku, M., Kuschner, E., Laakman, A.L., Lam, P., Lasala, M.W., Lee, H., LaGuerre, K., Levy, S., Cavanagh, A.L., Llorens, A.V., Campe, K.L., Luks, T.L., Marco, E.J., Martin, S., Martin, A.J., Marzano, G., Masson, C., McGovern, K.E., Keehn, R.M., Miller, D.T., Miller, F.K., Moss, T.J., Murray, R., Nagarajan, S.S., Nowell, K.P., Owen, J., Paal, A.M., Packer, A., Page, P.Z., Paul, B.M., Peters, A., Peterson, D., Poduri, A., Pojman, N.J., Porche, K., Proud, M.B., Qasmieh, S., Ramocki, M.B., Reilly, B., Roberts, TPL, Shaw, D., Sinha, T., Smith-Packard, B., Gallagher, A.S., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., and Wolken, A.

Subjects
0301 basic medicine, Simons Searchlight Consortium, Autism, 0302 clinical medicine, Gyrus, Gene duplication, 2.1 Biological and endogenous factors, Psychology, Copy-number variation, Aetiology, Genetics, Brain, Human brain, Magnetic Resonance Imaging, Psychiatry and Mental health, Mental Health, medicine.anatomical_structure, Schizophrenia, Neurological, Public Health and Health Services, RC321-571, DNA Copy Number Variations, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, 16p11.2 European Consortium, Neurosciences. Biological psychiatry. Neuropsychiatry, Neuroimaging, Biology, Basic Behavioral and Social Science, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Clinical Research, Behavioral and Social Science, mental disorders, medicine, Humans, 22Q11.2 DELETION SYNDROME, Clinical genetics, AUTISM, COMMON, Biological Psychiatry, Prevention, Human Genome, Brain morphometry, Neurosciences, medicine.disease, DUPLICATION, Brain Disorders, 030104 developmental biology, 030217 neurology & neurosurgery, Neuroscience
Abstract

Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically and non-clinically ascertained CNV carriers (deletion/duplication) at the 1q21.1 (n = 39/28), 16p11.2 (n = 87/78), 22q11.2 (n = 75/30), and 15q11.2 (n = 72/76) loci as well as 1296 non-carriers (controls). Case-control contrasts of all examined genomic loci demonstrated effects on brain anatomy, with deletions and duplications showing mirror effects at the global and regional levels. Although CNVs mainly showed distinct brain patterns, principal component analysis (PCA) loaded subsets of CNVs on two latent brain dimensions, which explained 32 and 29% of the variance of the 8 Cohen’s d maps. The cingulate gyrus, insula, supplementary motor cortex, and cerebellum were identified by PCA and multi-view pattern learning as top regions contributing to latent dimension shared across subsets of CNVs. The large proportion of distinct CNV effects on brain morphology may explain the small neuroimaging effect sizes reported in polygenic psychiatric conditions. Nevertheless, latent gene brain morphology dimensions will help subgroup the rapidly expanding landscape of neuropsychiatric variants and dissect the heterogeneity of idiopathic conditions.

Published
2021

3. Quantitative analysis of spore shapes improves identification of fungi

Author

Ewald Langer, Alexander Ordynets, and Keßler S

Subjects
Propagule, Evolutionary biology, fungi, Principal component analysis, Identification (biology), Taxonomy (biology), Biology, Linear discriminant analysis, biology.organism_classification, Agaricomycetes, Shape analysis (digital geometry), Spore
Abstract

Morphology of organisms is an important source of evidence for biodiversity assessment, taxonomic decisions, and understanding of evolution. Shape information about zoological and botanical objects is often treated quantitatively and in this form improves species identification. In studies of fungi, quantitative shape analysis was almost ignored. The disseminated propagules of fungi, the spores, are crucial for their taxonomy – currently in the form of linear measurements or subjectively defined shape categories. It remains unclear how much quantifying spore shape information can improve species identification. In this study, we tested the hypothesis that shape, as a richer source of information, overperforms size when performing automated identification of fungal species. We used the fungi of the genus Subulicystidium (Agaricomycetes, Basidiomycota) as a study object. We analysed 2D spore shape data via elliptic Fourier and Principal Component analyses. With flexible discriminant analysis, we achieved a slightly higher species identification success rate for shape predictors (61.5%) than for size predictors (59.1%). However, we achieved the highest rate for a combination of both (64.7%). We conclude that quantifying fungal spore shapes is worth the effort. We provide an open access protocol which, we hope, will stimulate a broader use of quantitative shape analysis in fungal taxonomy. We also discuss the challenges of such analyses that are specific to fungal spores.

Published
2021

4. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Author

D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Mace, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gerard, M., Goin-Kochel, R. P., Grant, E., Hunter, J. V., Isidor, B., Jacquette, A., Jonch, A. E., Keren, B., Lacombe, D., Le Caignec, C., Martin, C. L., Mannik, K., Metspalu, A., Mignot, C., Mukherjee, P., Owen, M. J., Passeggeri, M., Rooryck-Thambo, C., Rosenfeld, J. A., Spence, S. J., Steinman, K. J., Tjernagel, J., Van Haelst, M., Shen, Y., Draganski, B., Sherr, E. H., Ledbetter, D. H., van den Bree, M. B. M., Beckmann, J. S., Spiro, J. E., Reymond, A., Jacquemont, S., Chung, W. K., Knoers, N. V. A. M., Martinet, D., Belfiore, M., Cuvellier, J. -C., Devries, B., Delrue, M. -A., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, M. A., Minet, J. -C., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, B. H., Koolen, D. A., Vulto-Van Silfhout, A., de Leeuw, N., Rosanfeld, J. A., Filges, I., Achatz, E., Roetzer, K. M., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, P. M., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, G. P., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Freminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, R. F., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Endre, J., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., La, K., Levy, S., Lian, A., Llorens, A. V., Loftus, K., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith, B., Snow, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Blaumeiser, Bettina, Kooy, Frank, Other departments, Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium, Knoers, VA., Martinet, D., Belfiore, M., Cuvellier, JC., de Vries, B., Delrue, MA., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, MA., Minet, JC., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, BH., Koolen, DA., Vulto-van Silfhout, A., de Leeuw, N., Rosenfeld, JA., Filges, I., Achatz, E., Roetzer, KM., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, PM., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, GP., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Fréminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, RF., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, AL., Benedetti, M., Berg, J., Berman, J., Berry, LN., Bibb, AL., Blaskey, L., Brennan, J., Brewton, CM., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, AG., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, JE., Evans, YL., Findlay, A., Fischbach, GD., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, SE., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, FI., Jenkins J.<Suffix>3rd</Suffix>, Jeremy, RJ., Johnson, K., Kanne, SM., Kessler, S., Khan, SY., Ku, M., Kuschner, E., Laakman, AL., Lam, P., Lasala, MW., Lee, H., LaGuerre, K., Levy, S., Lian Cavanagh, A., Llorens, AV., Loftus Campe, K., Luks, TL., Marco, EJ., Martin, S., Martin, AJ., Marzano, G., Masson, C., McGovern, KE., McNally Keehn, R., Miller, DT., Miller, FK., Moss, TJ., Murray, R., Nagarajan, SS., Nowell, KP., Owen, J., Paal, AM., Packer, A., Page, PZ., Paul, BM., Peters, A., Peterson, D., Poduri, A., Pojman, NJ., Porche, K., Proud, MB., Qasmieh, S., Ramocki, MB., Reilly, B., Roberts, TP., Shaw, D., Sinha, T., Smith-Packard, B., Snow Gallagher, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, and Amsterdam Reproduction & Development (AR&D)

Subjects
Male, 0301 basic medicine, Proband, Pediatrics, Autism Spectrum Disorder, Developmental Disabilities, Chromosome Disorders, Comorbidity, Nonverbal learning disorder, Cohort Studies, Cognition, 0302 clinical medicine, Cerebellum, Chromosome Duplication, Gene duplication, Copy-number variation, Non-U.S. Gov't, Child, 2. Zero hunger, Intelligence quotient, Research Support, Non-U.S. Gov't, Middle Aged, Psychiatry and Mental health, Microcephaly, Female, Schizophrenic Psychology, Chromosome Deletion, Psychology, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Research Support, Nervous System Malformations, Article, Chromosomes, Young Adult, 03 medical and health sciences, Intellectual Disability, Journal Article, medicine, Humans, Autistic Disorder, Preschool, Psychiatry, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Epilepsy, Pair 16, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Case-control study, Autism Spectrum Disorder/epidemiology, Autism Spectrum Disorder/genetics, Autistic Disorder/epidemiology, Autistic Disorder/genetics, Case-Control Studies, Cerebellum/abnormalities, Child, Preschool, Chromosome Disorders/epidemiology, Chromosome Disorders/genetics, Chromosomes, Human, Pair 16/genetics, Developmental Disabilities/epidemiology, Developmental Disabilities/genetics, Epilepsy/epidemiology, Epilepsy/genetics, Intellectual Disability/epidemiology, Intellectual Disability/genetics, Microcephaly/epidemiology, Microcephaly/genetics, Nervous System Malformations/epidemiology, Nervous System Malformations/genetics, Schizophrenia/epidemiology, Schizophrenia/genetics, medicine.disease, 030104 developmental biology, Chromosomes, Human, Pair 16, Schizophrenia, Autism, Human medicine, 030217 neurology & neurosurgery
Abstract

Contains fulltext : 167711.pdf (Publisher’s version ) (Closed access) IMPORTANCE: The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI). OBJECTIVES: To characterize the effects of the 16p11.2 duplication on cognitive, behavioral, medical, and anthropometric traits and to understand the specificity of these effects by systematically comparing results in duplication carriers and reciprocal deletion carriers, who are also at risk for ASD. DESIGN, SETTING, AND PARTICIPANTS: This international cohort study of 1006 study participants compared 270 duplication carriers with their 102 intrafamilial control individuals, 390 reciprocal deletion carriers, and 244 deletion controls from European and North American cohorts. Data were collected from August 1, 2010, to May 31, 2015 and analyzed from January 1 to August 14, 2015. Linear mixed models were used to estimate the effect of the duplication and deletion on clinical traits by comparison with noncarrier relatives. MAIN OUTCOMES AND MEASURES: Findings on the Full-Scale IQ (FSIQ), Nonverbal IQ, and Verbal IQ; the presence of ASD or other DSM-IV diagnoses; BMI; head circumference; and medical data. RESULTS: Among the 1006 study participants, the duplication was associated with a mean FSIQ score that was lower by 26.3 points between proband carriers and noncarrier relatives and a lower mean FSIQ score (16.2-11.4 points) in nonproband carriers. The mean overall effect of the deletion was similar (-22.1 points; P < .001). However, broad variation in FSIQ was found, with a 19.4- and 2.0-fold increase in the proportion of FSIQ scores that were very low (100) compared with the deletion group (P < .001). Parental FSIQ predicted part of this variation (approximately 36.0% in hereditary probands). Although the frequency of ASD was similar in deletion and duplication proband carriers (16.0% and 20.0%, respectively), the FSIQ was significantly lower (by 26.3 points) in the duplication probands with ASD. There also were lower head circumference and BMI measurements among duplication carriers, which is consistent with the findings of previous studies. CONCLUSIONS AND RELEVANCE: The mean effect of the duplication on cognition is similar to that of the reciprocal deletion, but the variance in the duplication is significantly higher, with severe and mild subgroups not observed with the deletion. These results suggest that additional genetic and familial factors contribute to this variability. Additional studies will be necessary to characterize the predictors of cognitive deficits.

Published
2016

5. The European computer model for optronic system performance prediction (ECOMOS)

Author

Kessler, S., Bijl, P., Labarre, L., Repasi, E., Wittenstein, W., and Bürsing, H.

Subjects
Infrared devices, PCS - Perceptual and Cognitive Systems, Optical engineering, 02 engineering and technology, MATISSE, 021001 nanoscience & nanotechnology, Analytical model, 01 natural sciences, Thermal imagers, Thermal imager assessment, 010309 optics, TOD method, EO-system performance, 0103 physical sciences, TRM model, Human & Operational Modelling, Target acquisition, ELSS - Earth, Life and Social Sciences, Electronics, Image simulation, 0210 nano-technology
Abstract

ECOMOS is a multinational effort within the framework of an EDA Project Arrangement. Its aim is to provide a generally accepted and harmonized European computer model for computing nominal Target Acquisition (TA) ranges of optronic imagers operating in the Visible or thermal Infrared (IR). The project involves close co-operation of defence and security industry and public research institutes from France, Germany, Italy, The Netherlands and Sweden. ECOMOS uses and combines well-accepted existing European tools to build up a strong competitive position. This includes two TA models: The analytical TRM4 model and the image-based TOD model. In addition, it uses the atmosphere model MATISSE. In this paper, the central idea of ECOMOS is exposed. The overall software structure and the underlying models are shown and elucidated. The status of the project development is given as well as a short discussion of validation tests and an outlook on the future potential of simulation for sensor assessment. © 2017 SPIE. The Society of Photo-Optical Instrumentation Engineers (SPIE)

Published
2017

6. Fertigungssegmentierung und Durchflussproduktion bei der BKS GmbH

Author

Keßler, S., Meyer, G., Schreiner, A.-C., Tiedemann, H., Willumeit, J., and Publica

Subjects
Control and Systems Engineering, Fertigungssegmentierung, Automotive Engineering, Durchlaufzeit (DLZ), Segmentierung, Produktivität
Abstract

Der zunehmenden Individualisierung von Kundenwünschen bei gleichzeitig steigenden Anforderungen an die Verfügbarkeit von Produkten kann effektiv mithilfe innovativer Fabrik- und Fertigungsstrukturen begegnet werden. Dieser Fachbeitrag gibt einen Einblick in die Einführung von Fertigungssegmenten am Beispiel eines Projekts im Bereich der Schlossfertigung der BKS GmbH. Basierend auf systematischen, fundierten Analysten sowie einer prozessorientierten Planung konnten für den betrachteten Produktionsbereich unternehmensspezifisch maßgeschneiderte Segmente entwickelt werden, welche das Unternehmen in die Lage versetzten, den künftigen Anforderungen optimal zu begegnen.

Published
2010

8. HIV+ men need reproductive counseling too: Assessing childbearing goals and provider communication among HIV+ male patients in Rio de Janeiro, Brazil

Author

Neilane Bertoni, Deanna Kerrigan, Finocchario Kessler S, Francisco Inácio Bastos, Monica Malta, and Homaira Hanif

Subjects
Adult, Counseling, Male, medicine.medical_specialty, Sexual Behavior, Population, Reproductive counseling, Human immunodeficiency virus (HIV), Developing country, HIV Infections, Reproductive Behavior, Intention, Logistic regression, medicine.disease_cause, Interviews as Topic, Antiretroviral Therapy, Highly Active, Surveys and Questionnaires, medicine, Humans, Psychiatry, education, Reproductive health, education.field_of_study, Health Services Needs and Demand, Physician-Patient Relations, Descriptive statistics, business.industry, Communication, Public Health, Environmental and Occupational Health, virus diseases, Middle Aged, Infectious Diseases, Fertility, Logistic Models, Sexual Partners, Socioeconomic Factors, Male patient, Behavioral and Psychosocial Research, Reproductive Health Services, business, Brazil, Demography
Abstract

We assessed reported communication with HIV providers about reproductive plans among HIV+ men in Rio de Janeiro, Brazil, and factors associated with having had such communication. A total of N=311 HIV+ men (18–50 years) receiving HIV care at one of six public primary care clinics in Rio de Janeiro between 2008–2009 were surveyed. We used descriptive statistics, and multivariate logistic regression to identify factors associated with communication about childbearing with an HIV provider. HIV+ male patients (mean age=42.7 years, 57% mixed race; 23% bisexual, 51% married/committed partner, 61% with at least one biological child, 77% on ART) reported accepting attitudes of HIV and childbearing (51%), the desire (39%), and/or intention (19%) to have a future child, and reported communication with the HIV provider (14%) or their primary partner (28%) about having children. There were no significant differences between the responses of HIV+ heterosexual and bisexual men on the above outcomes. Men who discussed childbearing with their HIV provider were more likely to have accepting attitudes about HIV and childbearing [AOR 2.8, 95%CI (1.2–6.4), p=0.014], and intend to have a child [AOR 2.6, 95% CI (1.2–5.6), p=0.018], but less likely to have discussed this topic with their partner [AOR 0.32 (0.15–0.68), p=0.003]. Among men reporting communication, 40% (17/42) reported advice against having a child. An unmet need for collaborative, nonjudgmental, and provider-initiated communication about childbearing goals exists for HIV+ men in clinical care.

Published
2014

10. Fallbericht einer Patientin mit multiplen superinfizierten Nekrosen beider Ober- und Unterschenkel auf dem Boden einer Vaskulitis

Author

Regauer M, Kessler S, Volkering C, and Safak O

Subjects
medicine.medical_specialty, Necrosis, integumentary system, business.industry, medicine.medical_treatment, Immunosuppression, Disease, Split skin graft, Systemic inflammation, medicine.disease, Surgery, Transplantation, surgical procedures, operative, Systemic antibiotics, Medicine, medicine.symptom, business, Vasculitis
Abstract

Vasculitis can lead to skin necrosis, which typically shows decayed recovery tendency and is able to lead to local as well as systemic inflammation. By repeated necrosectomy, vacuum therapy, split skin graft transplantation as well as simultaneous immunosuppression and systemic antibiotics, the cutaneous manifestations of vasculitis where cured.

Published
2004

26. Antiplatelet therapy: glycoprotein IIb/IIIa receptor antagonists

Author

Kessler D, Kessler S, and Frishman Wh

Subjects
Pharmacology, chemistry.chemical_classification, Platelet aggregation, medicine.drug_class, business.industry, medicine.medical_treatment, General Medicine, Monoclonal antibody, Glycoprotein IIb IIIa receptor, Clinical trial, Orally active, chemistry, Angioplasty, medicine, Pharmacology (medical), In patient, business, Glycoprotein
Abstract

The glycoprotein IIb/IIIa antagonists are potent drugs that inhibit platelet aggregation. They are formulated as monoclonal antibodies and synthetic peptides for intravenous use in patients undergoing high-risk angioplasty procedures and in patients with unstable coronary syndromes. Orally active agents are now being evaluated in clinical trials.

Published
2003

29. Pulmonary caseating granulomas associated with Mycoplasma pneumoniae pneumonia

Author

Linz D, Kessler S, and Kane J

Subjects
Lung Diseases, Pathology, medicine.medical_specialty, Mycoplasma pneumoniae, Granuloma, business.industry, Arthritis, Caseins, Caseating granulomas, General Medicine, medicine.disease, medicine.disease_cause, respiratory tract diseases, Pulmonary tuberculosis, Pneumonia, Mycoplasma, M. pneumoniae, medicine, Humans, Female, Autoimmune hemolytic anemia, Granulomatous lung disease, business, Child, Mycoplasma pneumoniae pneumonia
Abstract

Severe Mycoplasma pneumoniae pneumonia, complicated by autoimmune hemolytic anemia, monarticular arthritis, and persistent upper lobe consolidation, clinically simulating pulmonary tuberculosis, occurred in a young girl. A specimen taken at open lung biopsy grew Mycoplasma pneumoniae and microscopically showed caseating granulomas, a finding never previously associated with M pneumoniae infection. Although it is possible that another infectious or immunologic granulomatous lung disease may have been responsible for the unusual clinical, roentgenographic, and pathologic findings, no other etiologic agent was identified.

Published
1983

30. Lack of toxicity of alfalfa saponins in cynomolgus macaques

Author

Bardana Ej, Houghton Dc, Palotay Jl, P McLaughlin, M.R. Malinow, Stenzel P, S.H. Goodnight, A L Livingston, Wilbur P. McNulty, and Kessler S

Subjects
General Veterinary, Duodenum, Organ Size, Pharmacology, Biology, Saponins, Diet, Cholesterol, Dietary, Macaca fascicularis, medicine.anatomical_structure, Toxicity, medicine, Animals, Macaca, Animal Science and Zoology, Female, Medicago sativa
Published
1982

31. ANTIHYPERTENSIVE THERAPY WITH ORAL DIURETICS

Author

Epstein Jh, Kessler S, Orvis Hh, Tamagna Ig, and Thomas Re

Subjects
Guanethidine, medicine.medical_specialty, Biomedical Research, Placebos, Pharmacotherapy, Drug Therapy, Internal medicine, medicine, Bendroflumethiazide, Diuretics, Antihypertensive Agents, Geriatrics, Blood Chemical Analysis, business.industry, Blood Pressure Determination, Chlorothiazide, Clinical research, Hypertension, Cardiology and Cardiovascular Medicine, business, medicine.drug
Published
1964

40. Psychologische Aspekte der Nebenwirkungen oraler Kontraceptiva

Author

Pferdmenges S, Kessler S, and Frick

Subjects
Gynecology, medicine.medical_specialty, business.industry, Obstetrics and Gynecology, Medicine, General Medicine, Psychological aspects, business
Abstract

Die Ergebnisse dieser Untersuchung berechtigen zu der Annahme, das sozialpsychologische Faktoren die subjektiven Nebenwirkungen der Ovulationshemmer beeinflussen. Negative Nebenwirkungen sind haufiger bei Frauen zu erwarten, bei denen Kontrazeption und weibliche Rollenvorstellung im Widerspruch stehen. Ein sachliches Informationsdefizit kann als weiterer Faktor verantwortlich gemacht werden.

Published
1973

41. Corona Immunitas: study protocol of a nationwide program of SARS-CoV-2 seroprevalence and seroepidemiologic studies in Switzerland

Author

Erin A. West, Anja Frei, Idris Guessous, Thomas Vermes, Silvia Stringhini, Daniel H. Paris, Daniela Anker, Adina Mihaela Epure, Ania Wisniak, Rebecca Amati, Luca Crivelli, Nicolas Rodondi, Jan Fehr, Milo A. Puhan, Audrey Butty, Medea Imboden, Laurent Kaufmann, Emiliano Albanese, Arnaud Chiolero, Gisela Michel, Valérie D'Acremont, Nicole Probst-Hensch, Christian R Kahlert, Murielle Bochud, Irène Frank, Nicolai Mösli, Stéphane Cullati, Fabian Vollrath, Philipp Kohler, Aude Richard, Semira Gonseth, Antoine Flahault, Luc Fornerod, Azman, Andrew, Baysson, Hélène, Collombet, Prune, Dibner, Yaron, Kaiser, Laurent, Petrovic, Dusan, Picazio, Attilio, Portier, Jane, Pugin, Caroline, University of Zurich, Puhan, Milo A, Corona Immunitas Research Group, Albanese, E., Amati, R., Amendola, A., Anker, D., Annoni, A.M., Azman, A., Bally, F., Balmer, B., Baysson, H., Berthod, D., Blankenberger, J., Bochud, M., Bodenmann, P., Bopp, M., Butty, A., Camerini, A.L., Cappeli, C., Carmelli, C., Chiolero, A., Collombet, P., Corna, L., Crawford, J., Crivelli, L., Cullati, S., Cusini, A., D'Acremont, V., De Pietro, C., Deschamps, A., Droz, S., Dumoulin, A., Duperrex, O., Dupraz, J., Egger, M., Engler, N., Epure, A.M., Estoppey, S., Fadda, M., Faivre, V., Fehr, J., Felappi, A., Fiordelli, M., Flahault, A., Fornerod, L., Fragoso Corti, C., Frangville, M., Frank, I., Franscella, G., Frei, A., Gille, D., Michel, G., Gonseth Nusslé, S., Gouzowski, A., Guessous, I., Guggisberg, J., Günthard, H., Gutzwiller, F., Incici, L., Jendly, E., Jung, R., Kahlert, C., Kaiser, L., Kaufmann, L., Kaufmann, M., Kessler, S., Kohler, P., Kriemler, S., Lenoir, L., Levati, S., Maeschli, B., Magnin, J.L., Masserey, E., Morese, R., Mösli, N., Noël, N., Orhant, M., Pasquier, J., Pennacchio, F., Petrovic, D., Pfister, S., Picazio, A., Prandi, C., Piumatti, G., Portier, J., Probst-Hensch, N., Pugin, C., Puhan, M., Radtke, T., Richard, A., Robert, C.F., Rodondi, P.Y., Rodondi, N., Salberg, E., Sanchis Zozaya, J., Schlüter, V., Schneider, V., Steiner-Dubuis, A., Stringhini, S., Sumer, J., Tall, I., Thabard, J., Tonolla, M., Troillet, N., Ulyte, A., Vassaux, S., Vermes, T., Vollrath, F., von Wyl, V., West, E., Wisniak, A., Zaballa, M.E., and Zuppinger, C.

Subjects
Research design, Health (social science), Ethnic group, 030204 cardiovascular system & hematology, Socioeconomic differences, Antibodies, Viral, Viral/blood, ddc:616.89, 0302 clinical medicine, Seroepidemiologic Studies, Pandemic, Epidemiology, Prevalence, Ethnicity, 030212 general & internal medicine, Serosurvey, Child, 610 Medicine & health, COVID-19/epidemiology, education.field_of_study, SARS-CoV-2/isolation & purification, Middle Aged, Viral/epidemiology, Geography, Research Design, Original Article, Switzerland, 360 Social problems & social services, Adolescent, Adult, Aged, Antibodies, Viral/blood, Betacoronavirus/immunology, Ethnic Groups, Humans, Pandemics, Pneumonia, Viral/epidemiology, Young Adult, Hygiene practices, Longitudinal, SARS-CoV-2, medicine.medical_specialty, Population, Pneumonia, Viral, Antibodies, Health(social science), 03 medical and health sciences, Betacoronavirus, Environmental health, medicine, Seroprevalence, education, ddc:613, Public health, Public Health, Environmental and Occupational Health, COVID-19, 10060 Epidemiology, Biostatistics and Prevention Institute (EBPI), 2739 Public Health, Environmental and Occupational Health, Pneumonia, ddc:618.97
Abstract

Objectives: Seroprevalence studies to assess the spread of SARS-CoV-2 infection in the general population and subgroups are key for evaluating mitigation and vaccination policies and for understanding the spread of the disease both on the national level and for comparison with the international community. Methods: Corona Immunitas is a research program of coordinated, population-based, seroprevalence studies implemented by Swiss School of Public Health (SSPH+). Over 28,340 participants, randomly selected and age-stratified, with some regional specificities will be included. Additional studies in vulnerable and highly exposed subpopulations are also planned. The studies will assess population immunological status during the pandemic. Results: Phase one (first wave of pandemic) estimates from Geneva showed a steady increase in seroprevalence up to 10.8% (95% CI 8.2-13.9, n = 775) by May 9, 2020. Since June, Zurich, Lausanne, Basel City/Land, Ticino, and Fribourg recruited a total of 5973 participants for phase two thus far. Conclusions: Corona Immunitas will generate reliable, comparable, and high-quality serological and epidemiological data with extensive coverage of Switzerland and of several subpopulations, informing health policies and decision making in both economic and societal sectors. ISRCTN Registry: https://www.isrctn.com/ISRCTN18181860 ., + ID der Publikation: unilu_50428 + Sprache: Englisch + Letzte Aktualisierung: 2020-11-02 15:42:18

Published
2020
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42. Platelet-Derived Hyaluronidase 2 Cleaves Hyaluronan into Fragments that Trigger Monocyte-Mediated Production of Proinflammatory Cytokines

Author

Amit Vasanji, Hyunjin Rho, Carol A De La Motte, Julie Nigro, Robert S. Stern, Silvio Danese, Sean Kessler, Claudio Fiocchi, Sudip Bandyopadhyay, de la Motte, C, Nigro, J, Vasanji, A, Rho, H, Kessler, S, Bandyopadhyay, S, Danese, S, Fiocchi, C, and Stern, R

Subjects
Blood Platelets, Male, medicine.medical_treatment, Blotting, Western, Fluorescent Antibody Technique, Hyaluronoglucosaminidase, Inflammation, Biology, GPI-Linked Proteins, Monocytes, Pathology and Forensic Medicine, Proinflammatory cytokine, Mice, chemistry.chemical_compound, Commentaries, Hyaluronic acid, medicine, Animals, Humans, Platelet, Hyaluronic Acid, Microscopy, Confocal, integumentary system, Reverse Transcriptase Polymerase Chain Reaction, Cell adhesion molecule, Immunohistochemistry, Molecular biology, Cell biology, carbohydrates (lipids), Mice, Inbred C57BL, Endothelial stem cell, Cytokine, chemistry, Cytokines, medicine.symptom, Wound healing, Cell Adhesion Molecules, Megakaryocytes
Abstract

Hyaluronan (RA) occurs in the body as a large, hydrating, space-filling, carbohydrate polymer in the extracellular matrix; it has both anti-angiogenic and immunosuppressive properties. Cleavage of HA results in the generation of variably sized fragments that stimulate multiple angiogenic and inflammatory responses in a size-specific manner. in this study, we report that platelets, as well as their megakaryocyte precursors, are unusual among somatic cells in that they contain only hyaluronidase 2 (HYAL2) but not HYAL1. Platelet HYAL2 is sufficient to cleave HA into fragments that are specific for inflammatory and angiogenic signaling; this process occurs in the absence of HYAL1, which is necessary in all other tissues to perform further HA degradation. Platelets can bind to RA, some of which derives from the stressed microvessel endothelial cell surface. Platelet-derived HYAL2 cleaves RA into fragments that stimulate mononuclear leukocytes in the immediate microenvironment to produce proinflammatory cytokines, including interleukin-6 and interleukin-8. Platelets, thus, are not only involved in hemostasis, the earliest step in wound healing, but are also important in the signaling of subsequent inflammatory and angiogenic steps. We hypothesize that aberrations in these sequential steps can promote chronic inflammation, as found in inflammatory bowel disease. The platelet may thus provide an interface between acute and chronic inflammation, wound healing, and their subsequent fibrotic responses. (Am J Pathol 2009, 174:2254-2264; DOI: 10.2353/ajpath.2009.080831)

Published
2009

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