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We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). We performed comparative genomic hybridization (CGH) on the genomic DNA of patients and unaffected subjects to detect copy number variants not present in their respective parents. Candidate genomic regions were validated by higher-resolution CGH, paternity testing, cytogenetics, fluorescence in situ hybridization, and microsatellite genotyping. Confirmed de novo CNVs were significantly associated with autism (P = 0.0005). Such CNVs were identified in 12 out of 118 (10%) of patients with sporadic autism, in 2 out of 77 (3%) of patients with an affected first-degree relative, and in 2 out of 196 (1%) of controls. Most de novo CNVs were smaller than microscopic resolution. Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized.  相似文献   
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Abstract  The selection properties of three experimental mesh sizes were examined in the lampara net fishery for eastern sea garfish, Hyporhamphus australis (Steindachner), in New South Wales, Australia. The sizes of fish retained in 25-, 28- and 32-mm mesh nets were compared with those retained in a control 12-mm mesh net. The 25-mm mesh net retained significant numbers of immature H. australis , the 28-mm mesh net retained predominantly only mature fish and the 32-mm mesh had very low catch rates. Catch rates decreased linearly with increasing mesh size and there was a significant linear relationship between mesh size and the 50% selection size ( L 50 ). Given this species is being overfished, the 28-mm mesh size is recommended as the most appropriate for use in the fishery.  相似文献   
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Three experiments were conducted to determine the optimum standardized ileal digestible Val-to-Lys (SID Val:Lys) ratio for 13- to 32-kg pigs. In Exp. 1, 162 pigs weaned at 17 d of age (8 pens/treatment) were used, and a Val-deficient basal diet containing 0.60% l-Lys·HCl, 1.21% SID Lys, and 0.68% SID Val was developed (0.56 SID Val:Lys). Performance of pigs fed the basal diet was inferior to a corn-soybean meal control containing only 0.06% l-Lys·HCl, but was fully restored with the addition of 0.146% l-Val to the basal diet (68% SID Val:Lys). In Exp. 2, 54 individually housed barrows (21.4 kg) were utilized in a 14-d growth assay. Pigs were offered a similar basal diet (1.10% SID Lys), ensuring Lys was marginally limiting with no supplemental l-Val (55% SID Val:Lys). The basal diet was fortified with 4 graded levels of l-Val (0.055% increments) up to a ratio of 75% SID Val:Lys. In Exp. 3, 147 barrows (13.5 kg) were fed identical diets, only with 1 additional level at a SID Val:Lys of 80% and fed for 21 d. In Exp. 2 and 3, a high protein, control diet was formulated to contain 1.10% SID Lys and 0.20% l-Lys·HCl. In Exp. 2, linear effects on ADG (713, 750, 800, 796, and 785 g/d; P = 0.05) and G:F (P = 0.07) were observed with increasing SID Val:Lys, characterized by improvements to a ratio of 65% and a plateau thereafter. In Exp. 3, quadratic improvements in ADG (600, 629, 652, 641, 630, and 642 g/d; P = 0.08) and G:F (P = 0.07) were observed with increasing SID Val:Lys, as performance increased to a ratio of 65% but no further improvement to a ratio of 80%. Pigs fed the control diet did not differ from those fed a ratio of 65% SID Val:Lys in Exp. 2, but did have improved G:F in Exp. 3 (P = 0.03). To provide a more accurate estimate of the optimum SID Val:Lys, data from Exp. 2 and 3 were combined. With single-slope broken-line methodology, the minimum ratio estimate was 64 and 65% SID Val:Lys for ADG and G:F, respectively. With combined requirement estimates, the data indicate that a SID Val:Lys of 65% seems adequate in maintaining performance for pigs from 13 to 32 kg.  相似文献   
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This study aimed to determine values for selected energy metabolites (non-esterified fatty acid [NEFA], β-hydroxybutyrate [BHB], urea or urea:BHB ratio), together with a body condition score, associated with an increased risk of cows developing a reproductive disorder and to investigate temporal relationships between predictors and reproductive outcome. A cohort of 98 cows on one farm was monitored weekly from four weeks before to 10 weeks after calving; 89 cows provided sufficient data to calculate commencement of luteal activity (C-LA). Cows with high NEFA × urea (Nu; product of NEFA and urea) values one and three weeks after calving were twice as likely to develop cystic ovarian disease (risk ratio 2). Cows that developed endometritis had high NEFA values one (P=0.02) or four weeks (P=0.04) before calving, or low urea:BHB ratios two weeks before calving, at calving or three weeks after calving (P=0.024, P=0.031 and P=0.001, respectively). Cows that had delayed C-LA had high NEFA values one week after calving (P=0.05) or low urea:BHB ratios three or four weeks after calving (P=0.004 and P=0.003, respectively).  相似文献   
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Systematic approaches to site selection for marine protected areas (MPAs) are often favored over opportunistic approaches as a means to meet conservation objectives efficiently. In this study, we compared analytically the conservation value of these two approaches. We locate this study in Danajon Bank, central Philippines, where many MPAs were established opportunistically based on community preference, with few if any contributions from biophysical data. We began by identifying the biophysical data that would have been available when the first MPA was created in Danajon Bank (1995). We next used these data with the reserve selection software Marxan to identify MPAs that covered the same area as is protected under the current set of MPAs (0.32% of the total study area) and that would protect the greatest number of conservation targets at the lowest cost. We finally compared the conservation value of the current MPAs to the value of those selected by Marxan. Because of the dearth of biophysical data available in 1995 and the small area currently under protection, Marxan identified multiple configurations of MPAs that would protect the same percentage of conservation targets, with little differentiation among sites. Further, we discovered that the costs of obtaining and analyzing these data to be used for conservation planning would have been large relative to resources typically available to conservation planners in developing countries. Finally, we found that the current set of MPAs protected more ecological features than would be expected by chance, although not as many as could be protected using a systematic approach. Our results suggest that an opportunistic approach can be a valuable component of conservation planning, especially when biophysical data are sparse and community acceptance is a critical factor affecting the success of an MPA.  相似文献   
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Attitudes toward animals are important in influencing how animals are treated. Few studies have investigated attitudes toward animals in veterinary or animal-science students, and no studies have compared attitudes to animals before and after a course teaching animal welfare and ethics. In this study, students enrolled in veterinary (first-year) or animal-science (first- and third-year) programs completed a questionnaire on attitudes toward different categories of animals before and after the course. Higher attitude scores suggest a person more concerned about how an animal is treated. Normally distributed data were compared using parametric statistics, and non-normally distributed data were compared using non-parametric tests, with significance p < .05. Attitudes toward pets (45.5-47.6) were higher than those toward pests (34.2-38.4) or profit animals (30.3-32.1). Attitude scores increased from before to after the course in the veterinary cohort on the Pest (36.9 vs. 38.4, respectively, n = 27, p < .05) and Profit (30.3 vs. 32.1, respectively, n = 28, p < .05) subscales, but not in the animal-science cohorts. Attitude scores in all categories were higher for women than for men. Currently having an animal was associated with higher pet scores (46.8 vs. 43.8, ns = 120 and 13, respectively, p < .05), and having an animal as a child was associated with higher profit scores (31.0 vs. 26.6, ns = 129 and 8, respectively, p < .05). Students electing to work with livestock had lower scores on the Pest and Profit subscales, and students wanting to work with wildlife had significantly higher scores on the Pest and Profit subscales. This study demonstrates attitudinal changes after an animal-welfare course, with significant increases in veterinary but not animal-science students.  相似文献   
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