Strong association of de novo copy number mutations with autism

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.     

Determining an optimal mesh size for use in the lampara net fishery for eastern sea garfish, Hyporhamphus australis

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.     

Estimation of the standardized ileal digestible valine-to-lysine ratio in 13- to 32-kilogram pigs

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.     

Energy metabolites in pre- and postpartum dairy cattle as predictors of reproductive disorders

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).     

Estimating landscape resistance to dispersal

Dispersal is an inherently spatial process that can be affected by habitat conditions in sites encountered by dispersers. Understanding landscape resistance to dispersal is important in connectivity studies and reserve design, but most existing methods use resistance functions with cost parameters that are subjectively chosen by the investigator. We develop an analytic approach allowing for direct estimation of resistance parameters that folds least cost path methods typically used in simulation approaches into a formal statistical model of dispersal distributions. The core of our model is a frequency distribution of dispersal distances expressed as least cost distance rather than Euclidean distance, and which includes terms for feature-specific costs to dispersal and sex (or other traits) of the disperser. The model requires only origin and settlement locations for multiple individuals, such as might be obtained from mark–recapture studies or parentage analyses, and maps of the relevant habitat features. To evaluate whether the model can estimate parameters correctly, we fit our model to data from simulated dispersers in three kinds of landscapes (in which resistance of environmental variables was categorical, continuous with a patchy configuration, or continuous in a trend pattern). We found maximum likelihood estimators of resistance and individual trait parameters to be approximately unbiased with moderate sample sizes. We applied the model to a small grizzly bear dataset to demonstrate how this approach could be used when the primary interest is in the prediction of costs and found that estimates were consistent with expectations based on bear ecology. Our method has important practical applications for testing hypotheses about dispersal ecology and can be used to inform connectivity planning efforts, via the resistance estimates and confidence intervals, which can be used to create a data-driven resistance surface.     

Equine Multinodular Pulmonary Fibrosis in association with asinine herpesvirus type 5 and equine herpesvirus type 5: a case report

A standardbred gelding with a history of 10 days pyrexia and lethargy was referred to the Equine Hospital at the Swedish University of Agricultural Sciences in Uppsala, Sweden.The horse had tachypnea with increased respiratory effort and was in thin body condition. Laboratory findings included leukocytosis, hyperfibrinogenemia and hypoxemia. Thoracic radiographs showed signs of pneumonia with a multifocal nodular pattern, which in combination with lung biopsy findings indicated Equine Multinodular Pulmonary Fibrosis (EMPF). EMPF is a recently described disease in adult horses with clinical signs of fever, weight loss and respiratory problems. The pathological findings include loss of functional pulmonary parenchyma due to extensive nodular interstitial fibrosis which has been related to infection with the equine herpesvirus type 5 (EHV-5). In this case, lung biopsy and tracheal wash samples tested positive for both asinine herpesvirus type 5 (AHV-5) and EHV-5 using PCR assays. The horse failed to respond to treatment and was euthanized for humane reasons. Postmortem examination confirmed the diagnosis of EMPF. This case suggests that not only EHV-5 alone should be considered in association with the development of this disease.