3 results
Characterisation of age and polarity at onset in bipolar disorder
- Janos L. Kalman, Loes M. Olde Loohuis, Annabel Vreeker, Andrew McQuillin, Eli A. Stahl, Douglas Ruderfer, Maria Grigoroiu-Serbanescu, Georgia Panagiotaropoulou, Stephan Ripke, Tim B. Bigdeli, Frederike Stein, Tina Meller, Susanne Meinert, Helena Pelin, Fabian Streit, Sergi Papiol, Mark J. Adams, Rolf Adolfsson, Kristina Adorjan, Ingrid Agartz, Sofie R. Aminoff, Heike Anderson-Schmidt, Ole A. Andreassen, Raffaella Ardau, Jean-Michel Aubry, Ceylan Balaban, Nicholas Bass, Bernhard T. Baune, Frank Bellivier, Antoni Benabarre, Susanne Bengesser, Wade H Berrettini, Marco P. Boks, Evelyn J. Bromet, Katharina Brosch, Monika Budde, William Byerley, Pablo Cervantes, Catina Chillotti, Sven Cichon, Scott R. Clark, Ashley L. Comes, Aiden Corvin, William Coryell, Nick Craddock, David W. Craig, Paul E. Croarkin, Cristiana Cruceanu, Piotr M. Czerski, Nina Dalkner, Udo Dannlowski, Franziska Degenhardt, Maria Del Zompo, J. Raymond DePaulo, Srdjan Djurovic, Howard J. Edenberg, Mariam Al Eissa, Torbjørn Elvsåshagen, Bruno Etain, Ayman H. Fanous, Frederike Fellendorf, Alessia Fiorentino, Andreas J. Forstner, Mark A. Frye, Janice M. Fullerton, Katrin Gade, Julie Garnham, Elliot Gershon, Michael Gill, Fernando S. Goes, Katherine Gordon-Smith, Paul Grof, Jose Guzman-Parra, Tim Hahn, Roland Hasler, Maria Heilbronner, Urs Heilbronner, Stephane Jamain, Esther Jimenez, Ian Jones, Lisa Jones, Lina Jonsson, Rene S. Kahn, John R. Kelsoe, James L. Kennedy, Tilo Kircher, George Kirov, Sarah Kittel-Schneider, Farah Klöhn-Saghatolislam, James A. Knowles, Thorsten M. Kranz, Trine Vik Lagerberg, Mikael Landen, William B. Lawson, Marion Leboyer, Qingqin S. Li, Mario Maj, Dolores Malaspina, Mirko Manchia, Fermin Mayoral, Susan L. McElroy, Melvin G. McInnis, Andrew M. McIntosh, Helena Medeiros, Ingrid Melle, Vihra Milanova, Philip B. Mitchell, Palmiero Monteleone, Alessio Maria Monteleone, Markus M. Nöthen, Tomas Novak, John I. Nurnberger, Niamh O'Brien, Kevin S. O'Connell, Claire O'Donovan, Michael C. O'Donovan, Nils Opel, Abigail Ortiz, Michael J. Owen, Erik Pålsson, Carlos Pato, Michele T. Pato, Joanna Pawlak, Julia-Katharina Pfarr, Claudia Pisanu, James B. Potash, Mark H Rapaport, Daniela Reich-Erkelenz, Andreas Reif, Eva Reininghaus, Jonathan Repple, Hélène Richard-Lepouriel, Marcella Rietschel, Kai Ringwald, Gloria Roberts, Guy Rouleau, Sabrina Schaupp, William A Scheftner, Simon Schmitt, Peter R. Schofield, K. Oliver Schubert, Eva C. Schulte, Barbara Schweizer, Fanny Senner, Giovanni Severino, Sally Sharp, Claire Slaney, Olav B. Smeland, Janet L. Sobell, Alessio Squassina, Pavla Stopkova, John Strauss, Alfonso Tortorella, Gustavo Turecki, Joanna Twarowska-Hauser, Marin Veldic, Eduard Vieta, John B. Vincent, Wei Xu, Clement C. Zai, Peter P. Zandi, Psychiatric Genomics Consortium (PGC) Bipolar Disorder Working Group, International Consortium on Lithium Genetics (ConLiGen), Colombia-US Cross Disorder Collaboration in Psychiatric Genetics, Arianna Di Florio, Jordan W. Smoller, Joanna M. Biernacka, Francis J. McMahon, Martin Alda, Bertram Müller-Myhsok, Nikolaos Koutsouleris, Peter Falkai, Nelson B. Freimer, Till F.M. Andlauer, Thomas G. Schulze, Roel A. Ophoff
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- Journal:
- The British Journal of Psychiatry / Volume 219 / Issue 6 / December 2021
- Published online by Cambridge University Press:
- 25 August 2021, pp. 659-669
- Print publication:
- December 2021
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Background
Studying phenotypic and genetic characteristics of age at onset (AAO) and polarity at onset (PAO) in bipolar disorder can provide new insights into disease pathology and facilitate the development of screening tools.
AimsTo examine the genetic architecture of AAO and PAO and their association with bipolar disorder disease characteristics.
MethodGenome-wide association studies (GWASs) and polygenic score (PGS) analyses of AAO (n = 12 977) and PAO (n = 6773) were conducted in patients with bipolar disorder from 34 cohorts and a replication sample (n = 2237). The association of onset with disease characteristics was investigated in two of these cohorts.
ResultsEarlier AAO was associated with a higher probability of psychotic symptoms, suicidality, lower educational attainment, not living together and fewer episodes. Depressive onset correlated with suicidality and manic onset correlated with delusions and manic episodes. Systematic differences in AAO between cohorts and continents of origin were observed. This was also reflected in single-nucleotide variant-based heritability estimates, with higher heritabilities for stricter onset definitions. Increased PGS for autism spectrum disorder (β = −0.34 years, s.e. = 0.08), major depression (β = −0.34 years, s.e. = 0.08), schizophrenia (β = −0.39 years, s.e. = 0.08), and educational attainment (β = −0.31 years, s.e. = 0.08) were associated with an earlier AAO. The AAO GWAS identified one significant locus, but this finding did not replicate. Neither GWAS nor PGS analyses yielded significant associations with PAO.
ConclusionsAAO and PAO are associated with indicators of bipolar disorder severity. Individuals with an earlier onset show an increased polygenic liability for a broad spectrum of psychiatric traits. Systematic differences in AAO across cohorts, continents and phenotype definitions introduce significant heterogeneity, affecting analyses.
Measuring Surface Energies of GaAs (100) and Si (100) by Three Liquid Contact Angle Analysis (3LCAA) for Heterogeneous Nano-BondingTM
- Christian E. Cornejo, Michelle E. Bertram, Timoteo C. Diaz, Saaketh R. Narayan, Sukesh Ram, Karen L. Kavanagh, Nicole Herbots, Jack M. Day, Franscesca J. Ark, Ajit Dhamdhere, Robert J. Culbertson, Rafiqul Islam
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- Journal:
- MRS Advances / Volume 3 / Issue 57-58 / 2018
- Published online by Cambridge University Press:
- 10 July 2018, pp. 3403-3411
- Print publication:
- 2018
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Analysis of the total surface energy γT and its three components as established by the van Oss-Chaudhury-Good Theory (vOCG) is conducted via Three Liquid Contact Angle Analysis (3LCAA). γT is correlated with the composition of the top monolayers (ML) obtained from High-Resolution Ion Beam Analysis (HR-IBA). Control of γT enables surface engineering for wafer bonding (Nano-BondingTM) and/or epitaxial growth. Native oxides on boron-doped p-Si(100) are found to average γT of 53 ± 1.4 mJ/m2) and are always hydrophilic. An HF in methanol or aqueous HF etch for 60 s always renders Si(100) hydrophobic. Its γT decreases by 20% to 44 ± 3 mJ/m2 in HF in methanol etch and by 10% to 48 ± 3 mJ/m2 in aqueous HF. On the contrary, GaAs(100) native oxides are found to always be hydrophobic. Tellurium n+-doped GaAs(100) yields an average of γT of 37 ± 2 mJ/m2, 96% of which is due to the Lifshitz-Van der Waals molecular interactions (γLW = 36 ± 1 mJ/m2). However, hydrophobic GaAs(100) can be made highly hydrophilic. After etching, γT increases by almost 50% to 66 ± 1.4 mJ/m2. 3LCAA shows that the γT increase is due to electron acceptor and donor interactions, while the Lifshitz-van der Waals energy γLW remains constant. IBA combining the 3.039 ± 0.01 MeV oxygen nuclear resonance with <111> channeling, shows that oxygen on Si(100) decreases by 10% after aqueous HF etching, from 13.3 ± 0.3 monolayers (ML) to 11.8 ± 0.4 ML 1 hour after etch.Te-doped GaAs(100) exhibits consistent oxygen coverage of 7.2 ± 1.4 ML, decreasing by 50% after etching to a highly hydrophilic surface with 3.6 ± 0.2 oxygen ML. IBA shows that etching does not modify the GaAs surface stoichiometry to within 1% . Combining 3LCAA with HR-IBA provides a quantitative metrology to measure how GaAs and Si surfaces can be altered to a different hydroaffinity and surface termination.
Comparative Study of Surface Energies of Native Oxides of Si(100) and Si(111) via Three Liquid Contact Angle Analysis
- Saaketh R. Narayan, Jack M. Day, Harshini L. Thinakaran, Nicole Herbots, Michelle E. Bertram, Christian E. Cornejo, Timoteo C. Diaz, Karen L. Kavanagh, R. J. Culbertson, Franscesca J. Ark, Sukesh Ram, Mark W. Mangus, Rafiqul Islam
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- Journal:
- MRS Advances / Volume 3 / Issue 57-58 / 2018
- Published online by Cambridge University Press:
- 01 June 2018, pp. 3379-3390
- Print publication:
- 2018
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The effects of crystal orientation and doping on the surface energy, γT, of native oxides of Si(100) and Si(111) are measured via Three Liquid Contact Angle Analysis (3LCAA) to extract γT, while Ion Beam Analysis (IBA) is used to detect Oxygen. During 3LCAA, contact angles for three liquids are measured with photographs via the “Drop and Reflection Operative Program (DROP™). DROP™ removes subjectivity in image analysis, and yields reproducible contact angles within < ±1°. Unlike to the Sessile Drop Method, DROP can yield relative errors < 3% on sets of 20-30 drops. Native oxides on 5 x 1013 B/cm3 p- doped Si(100) wafers, as received in sealed, 25 wafer teflon boats continuously stored in Class 100/ISO 5 conditions at 24.5°C in 25% controlled humidity, are found to be hydrophilic. Their γT, 52.5 ± 1.5 mJ/m2, is reproducible between four boats from three sources, and 9% greater than γT of native oxides on n- doped Si(111), which averages 48.1 ± 1.6 mJ/m2 on four 4” Si(111) wafers. IBA combining 16O nuclear resonance with channeling detects 30% more oxygen on native oxides of Si(111) than Si(100). While γT should increase on thinner, more defective oxides, Lifshitz-Van der Waals interactions γLW on native oxides of Si(100) remain at 36 ± 0.4 mJ/m2, equal to γLW on Si(111), 36 ± 0.6 mJ/m2, since γLW arises from the same SiO2 molecules. Native oxides on 4.5 x 1018 B/cm3 p+ doped Si(100) yield a γT of 39 ± 1 mJ/m2, as they are thicker per IBA. In summary, 3LCAA and IBA can detect reproducibly and accurately, within a few %, changes in the surface energy of native oxides due to thickness and surface composition arising from doping or crystal structure, if conducted in well controlled clean room conditions for measurements and storage.