4 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.
Body mass index and the risk of infections in institutionalised geriatric patients
- Thomas E. Dorner, Franz Schwarz, Alexander Kranz, Wolfgang Freidl, Anita Rieder, Christoph Gisinger
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- Journal:
- British Journal of Nutrition / Volume 103 / Issue 12 / 28 June 2010
- Published online by Cambridge University Press:
- 08 March 2010, pp. 1830-1835
- Print publication:
- 28 June 2010
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The objective was to examine the effect of BMI on the incidence of various infectious diseases in institutionalised, geriatric subjects. In a retrospective cohort study we analysed medical records of 619 patients aged 75 years and older (mean age 87·6 (sd 6·4) years) who were treated in a geriatric hospital in Vienna, Austria. The total incidence rate of infection in this population was 0·80 per person-year. The most frequent infections were urinary tract infections (0·30 per person-year), followed by infections of the lower respiratory tract (0·19 per person-year), diarrhoea (0·12 per person-year) and other infections (0·20 per person-year). Incidence risk ratios were obtained by a multiplicative Poisson regression model. There was a J-shaped curve in the incidence of infections recorded by BMI with a nadir at 27–28 kg/m2. Compared with the reference group with a BMI of 24–27·9 kg/m2, subjects with a lower BMI had a higher incidence rate of infections. The incidence risk ratios, adjusted for sex, age and chronic diseases, were 1·62 (95 % CI 1·21, 2·17) for those with a BMI of < 20 kg/m2 and 1·84 (95 % CI 1·40, 2·42) for those with a BMI of 20–23·9 kg/m2. However, also patients with a BMI of 28 kg/m2 and above had a higher incidence rate of infections, with an incidence risk ratio of 1·54 (95 % CI 1·07, 2·22). These results show that both underweight and obesity are associated with a higher risk of infections in institutionalised geriatric patients.
Modulation of dye-coupling and proliferation in cultured rat thymic epithelium by factors involved in thymulin secretion
- G. M. HEAD, R. MENTLEIN, A. KRANZ, J. E. G. DOWNING, M. D. KENDALL
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- Journal:
- The Journal of Anatomy / Volume 191 / Issue 3 / October 1997
- Published online by Cambridge University Press:
- 01 October 1997, pp. 355-365
- Print publication:
- October 1997
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Cultures of rat thymic epithelium were used to measure the effect of thymulin secretagogues on dye-coupling and proliferation. Dye-coupling was assessed after the injection of lucifer yellow dextran which cannot permeate the connexin pore of gap junctions and the smaller, permeant cascade blue. In addition to gap junctional communication, larger intercellular bridges were demonstrated by the transfer of lucifer yellow dextran between cells. The extent of intercellular communication was found to be influenced by both cell density and the number of passages. In control cultures, intercellular communication was reduced in cell groups of low (<20 cells/group) or high cell densities (>100 cells/group) compared with groups of 20–60 cells. The highest coupling indices were found in subcultures 20–30. Taking these factors into account, significant decreases in coupling index were observed after pretreatment of test cultures with factors known to influence the secretion of thymulin (5 U/ml interleukin 1 (α and β), 1 μM progesterone, 1 μM oestrogen, 1 μM testosterone, 1 ng/ml adrenocorticotropic hormone, 100 nm rat growth hormone) but 7.5 ng/ml thymulin had no effect on dye-coupling. The nonspecific gap junction uncoupler, octanol, abolished dye-coupling. Cellular proliferation, as measured by the uptake of tritiated thymidine, showed that the same factors that reduced coupling also increased proliferation. None of these factors affected the number of multinucleate cells present, except interleukin-1β which caused a significant reduction in the average number of nuclei per cell. Thus rat thymic epithelium in vitro provides a model for the study of the direct action of factors on cells of the thymic microenvironment.
19 - In vitro fertilization with single isolated gametes
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- By E. Kranz
- Edited by K. R. Shivanna, University of Delhi, V. K. Sawhney, University of Saskatchewan, Canada
- Foreword by R. Bruce Knox
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- Book:
- Pollen Biotechnology for Crop Production and Improvement
- Published online:
- 11 September 2009
- Print publication:
- 13 April 1997, pp 377-391
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Summary
Summary
The ability to isolate angiosperm gametes has opened new experimental avenues, including in vitro fertilization. The use of biotechnological methods such as micromanipulation and single cell culture has led to the technique of in vitro fertilization at the single cell level. In this chapter, a description is given of (a) in vitro fusion techniques using single isolated egg and sperm cell protoplasts of maize and (b) the subsequent development of the fusion product, the zygote, in individual culture. The electrofusion of the gametic protoplasts leads to zygotic embryogenesis and fertile hybrid plants. Furthermore, a nonelectrical alternative technique to fuse isolated higher plant gametes using a fusiogenic medium is given and its relevance to studies of adhesion, recognition, and fusion of these gametes is discussed. The experimental experiences obtained are so far limited to maize. These micromanipulation techniques and their possible application for fundamental and applied studies are described.
Introduction
Biotechnological methods have been applied in addition to sexual crossings in breeding programs for a number of years. For example, cell and tissue culture techniques such as somatic cell genetics, anther and microspore culture, and methods of ovule culture are extensively used. Since the first successful in vitro pollination/fertilization of excised ovules with mature pollen of Papaver somniferum L. was performed (Kanta et al. 1962), techniques of embryo rescue (Stewart 1981) and in vitro pollination/fertilization of flower explants, ovaries, and ovules have been used to overcome cases of self- and cross-incompatibility (for example, Rangaswamy and Shivanna 1967, 1971; Rangaswamy 1977; Zenkteler 1990, 1992). Meiotic and pollen tetrad protoplasts were used in fusion experiments (Ito and Maeda 1973; Deka et al. 1977).