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31.
Xingguang Luo Henry R Kranzler Lingjun Zuo Shuang Wang Joel Gelernter 《Neuropsychopharmacology》2007,61(5):599-608
BACKGROUND: Personality traits are associated with substance dependence (SD); genetic factors may influence both. Strong associations between ADH4 variation and SD have been reported. We aimed to investigate the relationship between ADH4 variation and personality traits in the present study. METHODS: We assessed dimensions of the five-factor model of personality in 243 subjects with SD (175 European Americans [EAs] and 68 African Americans [AAs]) and 296 healthy control subjects (256 EAs and 40 AAs). We also genotyped 7 ADH4 markers (spanning the locus) and 38 unlinked ancestry-informative markers in these subjects. The relationships between the diplotypes, alleles, and genotypes at ADH4 and personality traits were examined using multivariate analysis of covariance (MANCOVA), controlling for potential confounders. RESULTS: Generally, SD patients, older individuals, and male subjects scored higher on neuroticism and lower on other personality factors. Personality factors were associated with the diplotypes. The allele A or genotype A/A of single nucleotide polymorphism (SNP)6 (rs1800759 at the gene promoter) was significantly associated with agreeableness scores. There were associations between extraversion and SNP1 (hcv2033010 at the 3' end) and SNP2 (rs1042364 in exon 9) in subjects with higher conscientiousness scores. CONCLUSIONS: The personality traits of agreeableness and extraversion are related to ADH4 polymorphism. Among the ADH4 markers that appear to predispose to certain personality traits, the functional variant rs1800759 (SNP6) in the promoter region is most important. We conclude that personality traits and SD have a partially overlapping genetic basis. 相似文献
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34.
Steven Z George Mark D Bishop Joel E Bialosky Giorgio Zeppieri Michael E Robinson 《BMC musculoskeletal disorders》2006,7(1):68
Background
The underlying causes of spinal manipulation hypoalgesia are largely unknown. The beneficial clinical effects were originally theorized to be due to biomechanical changes, but recent research has suggested spinal manipulation may have a direct neurophysiological effect on pain perception through dorsal horn inhibition. This study added to this literature by investigating whether spinal manipulation hypoalgesia was: a) local to anatomical areas innervated by the lumbar spine; b) correlated with psychological variables; c) greater than hypoalgesia from physical activity; and d) different for A-delta and C-fiber mediated pain perception. 相似文献35.
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37.
Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis 总被引:12,自引:4,他引:8
Shuber Anthony P.; Skoletsky Joel; Stern Robert; Handelin Barbara L. 《Human molecular genetics》1993,2(2):153-158
The identification of the cystic fibrosis transmembrane conductanceregulator (CFTR) gene has led to the identification of morethan 225 presumed disease-causing mutations at the locus. Thediagnosis of cystic fibrosis or the carrier state by directDNA analysis is hindered by this large number. A practical assaymust be able to detect enough mutations to achieve clinicallysignificant sensitivity. The use of allele-specifk oligonucleotideprobes is the most promising of the available methods. However,to date this has generally involved tedious probe-by-probe hybridizations,due to variations in the oligonucleotides' denaturation temperaturescaused by differences in their G-C base-pair content. We havedeveloped a rapid, cost-effective assay that simultaneouslydetects 12 CFTR mutations after multiplex polymerase-chain-reactionamplification of genomic DNA. The test may be readily extendedto detect additional mutations at minimal increase in the costper test or the turnaround time. We improve specificity andavoid the need for individual hybridizations by the use of tetramethylammoniumchloride to virtually eliminate the effects of G-C differences.Coupled with non-invasive sample-collection methods, this isan immediately practical assay for cystic fibrosis. More generally,it will serve as a model for the development of diagnostic testsin other genetic disorders involving complex mutation analysis. 相似文献
38.
A comprehensive and reliable assessment of work stress, burnout, affective, and physical symptomatology was conducted with 260 hospital nurses. As previous attempts to categorize nursing stress and burnout by ward type have yielded inconsistent results, an alternative method for grouping nursing stress effects was sought. Cluster analysis was chosen as it offers a statistically sound means of delineating natural groupings within data. Sets of questionnaires measuring burnout, work stressors, and physical and emotional symptomatology were sent to all staff nurses at a large university hospital. Of 709 nurses employed there, a total of 260 nurses returned completed questionnaire packets. These nurses were separated into two equal groups using random sampling procedures. Cluster analysis of this data revealed groupings which were based on nursing stressors (particularly workload and conflict with physicians), social support, and patient loads. These cluster-analytic findings were replicated on both samples, and validated using data not used in the original cluster analysis. Results suggest that the effects of stress have more to do with the characteristics of the work environment and overall workload than with the degree of specialization on the unit. Results also suggest that intraprofessional conflict (i.e. with other nurses) is less psychologically damaging than is interprofessional conflict (i.e. conflict with physicians). Findings are discussed with respect to the burnout process and possible interventions. 相似文献
39.
Amy J Bastian Valerie E Kelly Fredy J Revilla Joel S Perlmutter Jonathan W Mink 《Movement disorders》2003,18(9):1000-1007
The purpose of this study was to determine the effects of unilateral versus bilateral subthalamic nucleus (STN) stimulation on quantitative measures of walking and reaching in Parkinson's disease (PD). We used kinematic measures and the Unified Parkinson's Disease Rating Scale (UPDRS) motor subscale (subscale III) to evaluate the movement of 6 people with PD who had bilateral STN stimulators implanted for at least 6 months and withheld their anti-parkinson medication for at least 8 hours. Subjects were studied with both stimulators off, one on, and both on. Kinematic data were collected as subjects walked, reached to a target, and were rated using the UPDRS motor subscale. STN stimulation improved walking speed and stride length, with the greatest benefit from bilateral stimulation. Reaching speed was improved by unilateral STN stimulation alone, with no additive effect of bilateral stimulation. UPDRS motor subscale ratings paralleled the kinematic findings. STN stimulation did not restore PD subjects' movements to the level of age-matched controls. Overall, these results provide further evidence that the basal ganglia pathways involved in control of walking and reaching may be distinct. We speculate that basal ganglia may influence walking through bilateral pedunculopontine projections and reaching through ipsilateral thalamocortical projections. Our findings also suggest that maximal improvement of walking requires bilateral rather than unilateral STN stimulation. 相似文献
40.
Joel Herskowitz 《Developmental medicine and child neurology》1986,28(5):617-623
Four children with panic disorder, two boys and two girls between the ages of nine and 16 years, are discussed. They presented with complaints suggesting neurological disorder: 'dizziness', headache, episodic anxiety and 'blackout spells'. Neurological examinations and investigations were normal. Depression and/or anxiety were prominent in all cases. Drug treatment and psychotherapy were of some benefit. Four other children with attention deficit disorders are presented, whose mothers have panic disorder. This association points towards common biochemical influences and suggests that tricyclic drugs may be preferable to CNS stimulants as a form of treatment. 相似文献