Temperament has a strongly heritable component, yet multiple independent genome-wide studies have failed to identify significant genetic associations. We have assembled the largest sample to date of ...persons with genome-wide genotype data, who have been assessed with Cloninger's Temperament and Character Inventory. Sum scores for novelty seeking, harm avoidance, reward dependence and persistence have been measured in over 11,000 persons collected in four different cohorts. Our study had >80% power to identify genome-wide significant loci (P<1.25 × 10(-8), with correction for testing four scales) accounting for ≥0.4% of the phenotypic variance in temperament scales. Using meta-analysis techniques, gene-based tests and pathway analysis we have tested over 1.2 million single-nucleotide polymorphisms (SNPs) for association to each of the four temperament dimensions. We did not discover any SNPs, genes, or pathways to be significantly related to the four temperament dimensions, after correcting for multiple testing. Less than 1% of the variability in any temperament dimension appears to be accounted for by a risk score derived from the SNPs showing strongest association to the temperament dimensions. Elucidation of genetic loci significantly influencing temperament and personality will require potentially very large samples, and/or a more refined phenotype. Item response theory methodology may be a way to incorporate data from cohorts assessed with multiple personality instruments, and might be a method by which a large sample of a more refined phenotype could be acquired.
Familial Aggregation of Absolute Pitch Baharloo, Siamak; Service, Susan K.; Risch, Neil ...
American journal of human genetics,
09/2000, Letnik:
67, Številka:
3
Journal Article
Recenzirano
Odprti dostop
Absolute pitch (AP) is a behavioral trait that is defined as the ability to identify the pitch of tones in the absence of a reference pitch. AP is an ideal phenotype for investigation of gene and ...environment interactions in the development of complex human behaviors. Individuals who score exceptionally well on formalized auditory tests of pitch perception are designated as “AP-1.” As described in this report, auditory testing of siblings of AP-1 probands and of a control sample indicates that AP-1 aggregates in families. The implications of this finding for the mapping of loci for AP-1 predisposition are discussed.
Hybrid Learning Cheung, Simon K. S; Fong, Joseph; Kwok, Lam-For ...
2012, 2012-07-16, Letnik:
7411
eBook, Book, Conference Proceeding
Recenzirano
This book constitutes the refereed proceedings of the 5th International Conference on Hybrid Learning, ICHL 2012, held in Guangzhou, China, in August 2012. The 32 contributions presented in this ...volume were carefully reviewed and selected from numerous submissions. In addition two keynote talks are included in this book. The topics covered are computer supported collaborative learning, experiences in hybrid learning, electronic learning, pedagogical and psychological issues, hybrid learning systems, and organizational frameworks for hybrid learning.
Absolute pitch (AP) is the ability to recognize a pitch, without an external reference. By surveying more than 600 musicians in music conservatories, training programs, and orchestras, we have ...attempted to dissect the influences of early musical training and genetics on the development of this ability. Early musical training appears to be necessary but not sufficient for the development of AP. Forty percent of musicians who had begun training at ≤4 years of age reported AP, whereas only 3% of those who had initiated training at ⩾9 years of age did so. Self-reported AP possessors were four times more likely to report another AP possessor in their families than were non–AP possessors. These data suggest that both early musical training and genetic predisposition are needed for the development of AP. We developed a simple computer-based acoustical test that has allowed us to subdivide AP possessors into distinct groups, on the basis of their performance. Investigation of individuals who performed extremely well on this test has already led us to identify several families that will be suitable for studies of the genetic basis of AP.
OBJECTIVES. To examine the effectiveness and feasibility of a community-based aquatic exercise programme for elders with osteoarthritis of the knee. DESIGN. Prospective intervention study, with a ...before-and-after design. SETTING. Community elders. PARTICIPANTS. Twenty elders aged 65 years or above (mean, 72 years) attending four Elderly Health Centres of the Department of Health who had suffered from osteoarthritis of the knee for at least 3 years and with mild-to-severe knee pain. INTERVENTION. A 10-week aquatic exercise programme designed and led by physiotherapists. MAIN OUTCOME MEASURES. Range of motion and power of extension of the knees, functional reach test, repeated sit-to-stand test, and the Chinese Arthritis Impact Measurement Scales 2. RESULTS. There was an improvement in the median range of knee flexion from 115° to 125° (P<0.01) and the median strength of the quadriceps from 9 kg to 21 kg (P<0.001). The median score of the functional reach test increased from 20 cm to 28 cm (P<0.001) and the repeated sit-to-stand test from 10 to 14 repetitions (P<0.001). Also, there was an improvement in the mobility level (P<0.01), walking and bending ability of the trunk (P<0.05), levels of pain (P<0.01) and mood (P<0.01), and the total score (P<0.01) in the Chinese Arthritis Impact Measurement Scales 2. CONCLUSIONS. Physiotherapist-designed aquatic exercise has definite benefits in terms of physical and psychosocial functioning, and should be promoted as one of the strategies to enhance long-term self-management of community elders with knee osteoarthritis.
Silver-Russell syndrome in Hong Kong Luk, H M; Yeung, K S; Wong, W L ...
Hong Kong medical journal = Xianggang yi xue za zhi,
12/2016, Letnik:
22, Številka:
6
Journal Article
Recenzirano
Odprti dostop
To examine the molecular pathogenetic mechanisms, (epi)genotype-phenotype correlation, and the performance of the three clinical scoring systems-namely Netchine et al, Bartholdi et al, and Birmingham ...scores-for patients with Silver-Russell syndrome in Hong Kong.
This retrospective case series was conducted at two tertiary genetic clinics, the Clinical Genetic Service, Department of Health, and clinical genetic clinic in Queen Mary Hospital in Hong Kong. All records of patients with suspected Silver-Russell syndrome under the care of the two genetic clinics between January 2010 and September 2015 were retrieved from the computer database.
Of the 28 live-birth patients with Silver-Russell syndrome, 35.7% had H19 loss of DNA methylation, 21.4% had maternal uniparental disomy of chromosome 7, 3.6% had mosaic maternal uniparental disomy of chromosome 11, and the remaining 39.3% were Silver-Russell syndrome of unexplained molecular origin. No significant correlation between (epi)genotype and phenotype could be identified between H19 loss of DNA methylation and maternal uniparental disomy of chromosome 7. Comparison of molecularly confirmed patients and patients with Silver-Russell syndrome of unexplained origin revealed that postnatal microcephaly and café-au-lait spots were more common in the latter group, and body and limb asymmetry was more common in the former group. Performance analysis showed the Netchine et al and Birmingham scoring systems had similar sensitivity in identifying Hong Kong Chinese subjects with Silver-Russell syndrome.
This is the first territory-wide study of Silver-Russell syndrome in Hong Kong. The clinical features and the spectrum of underlying epigenetic defects were comparable to those reported in western populations.
The 1944 Bretton Woods conference created new institutions for international economic governance. Though flawed, the system led to a golden age in postwar reconstruction, sustained economic growth, ...job creation, and postcolonial development. Yet financial liberalization since the 1970s has involved deregulation and globalization, which have exacerbated instability, rather than sustained growth. In addition, the failure of Bretton Woods to provide a reserve currency enabled the dollar to fill the void, which has contributed to periodic, massive U.S. trade deficits. Our latest global financial crisis, in which all these weaknesses played a part, underscores how urgently we must reform the international financial system. Prepared for the G24 research program, a consortium of developing countries focused on financial issues, this volume argues that such reforms must be developmental. Chapters review historical trends in global liquidity, financial flows to emerging markets, and the food crisis, identifying the systemic flaws that contributed to the recent downturn. They challenge the effectiveness of recent policy and suggest criteria for regulatory reform, keeping in mind the different circumstances, capacities, and capabilities of various economies. Essays follow ongoing revisions in international banking standards, the improved management of international capital flows, the critical role of the World Trade Organization in liberalizing and globalizing financial services, and the need for international tax cooperation. They also propose new global banking and reserve currency arrangements.
This comprehensive volume encompasses recent innovations and practice in the production and use of different oil crops, including brassica, sunflower, safflower, cottonseed, castor, olive, coconut, ...oilpalm, sesame, groundnut, and soybean.
India is endowed with varied topographical features, such as high mountains, extensive plateaus, and wide plains traversed by mighty rivers. Water is an important input in the socio-economic ...development of a nation. In India, this dependence is even more apparent, as 70% of her population is dependent on agriculture. Divided into four sections the book provides a comprehensive overview of water resources of India. Beginning with a general description of the country, major hydrologic features, such as climate (precipitation, temperature, radiation, etc.), streamflow, groundwater, soil, etc. are discussed. A detailed treatment of all major river basins is provided, which includes description of catchments, tributaries, surface water and ground water, and important water resources projects. This is followed by a discussion on major uses of water in India, major projects, water related problems including environment and water quality, provisions of the constitution of India, interlinking of India rivers, and institutions dealing with water resources. Finally, the last chapter discusses some views on water management policy for India. AudienceThe book should be useful to Water Resources professionals, particularly those with an interest in India, graduate students, researchers, teachers, planners and policy makers.
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