Off-ball behavior in association football: A data-driven model to measure changes in individual defensive pressure.

This study describes an approach to evaluate the off-ball behaviour of attacking players in association football. The aim was to implement a defensive pressure model to examine an offensive player's ability to create separation from a defender using 1411 high-intensity off-ball actions including 988 Deep Runs (DRs) DRs and 423 Change of Directions (CODs). Twenty-two official matches (14 competitive matches and 8 friendlies) of the German National Team were included in the research. To validate the effectiveness of the pressure model, each pass (n = 25,418) was evaluated for defensive pressure on the receiver at the moment of the pass and for the pass completion rate (R = -.34, p < .001). Next, after assessing the inter-rater reliability (Fleiss Kappa of 80 for DRs and 78 for CODs), three expert raters annotated all DRs and CODs that met the pre-set criteria. A time-series analysis of each DR and COD was calculated to the nearest 0.1 second, finding a slight increase in pressure from the start to the end of the off-ball actions as defenders re-established proximity to the attacker after separation was created. A linear mixed model using run type (DR or COD) as a fixed effect with the local maximum as a fixed effect on a continuous scale resulted in p < 0.001, d = 4.81, CI = 0.63 to 0.67 for the greatest decrease in pressure, p < 0.001, d = 0.143, CI = 9.18 to 10.61 for length of the longest decrease in pressure, and p < 0.001, d = 1.13, CI = 0.90 to 1.11 for the fastest rate of decrease in pressure. As these values pertain to the local maximum, situations with greater starting pressure on the attacker often led to greater subsequent decreases. Furthermore, there was a significant (p < .0001) difference between offensive and defensive positions and the number of off-ball actions. Results suggest the model can be applied to quantify and visualise the pressure exerted on non-ball-possessing players. This approach can be combined with other methods of match analysis, providing practitioners with new opportunities to measure tactical performance in football.

High-throughput sequencing of the synaptome in major depressive disorder.

Major depressive disorder (MDD) is among the leading causes of worldwide disability. Despite its significant heritability, large-scale genome-wide association studies (GWASs) of MDD have yet to identify robustly associated common variants. Although increased sample sizes are being amassed for the next wave of GWAS, few studies have as yet focused on rare genetic variants in the study of MDD. We sequenced the exons of 1742 synaptic genes previously identified by proteomic experiments. PLINK/SEQ was used to perform single variant, gene burden and gene set analyses. The GeneMANIA interaction database was used to identify protein-protein interaction-based networks. Cases were selected from a familial collection of early-onset, recurrent depression and were compared with screened controls. After extensive quality control, we analyzed 259 cases with familial, early-onset MDD and 334 controls. The distribution of association test statistics for the single variant and gene burden analyses were consistent with the null hypothesis. However, analysis of prioritized gene sets showed a significant association with damaging singleton variants in a Cav2-adaptor gene set (odds ratio=2.6; P=0.0008) that survived correction for all gene sets and annotation categories tested (empirical P=0.049). In addition, we also found statistically significant evidence for an enrichment of rare variants in a protein-based network of 14 genes involved in actin polymerization and dendritic spine formation (nominal P=0.0031). In conclusion, we have identified a statistically significant gene set and gene network of rare variants that are over-represented in MDD, providing initial evidence that calcium signaling and dendrite regulation may be involved in the etiology of depression.

Whole-genome association analysis of treatment response in obsessive-compulsive disorder.

Up to 30% of patients with obsessive-compulsive disorder (OCD) exhibit an inadequate response to serotonin reuptake inhibitors (SRIs). To date, genetic predictors of OCD treatment response have not been systematically investigated using genome-wide association study (GWAS). To identify specific genetic variations potentially influencing SRI response, we conducted a GWAS study in 804 OCD patients with information on SRI response. SRI response was classified as 'response' (n=514) or 'non-response' (n=290), based on self-report. We used the more powerful Quasi-Likelihood Score Test (the MQLS test) to conduct a genome-wide association test correcting for relatedness, and then used an adjusted logistic model to evaluate the effect size of the variants in probands. The top single-nucleotide polymorphism (SNP) was rs17162912 (P=1.76 × 10(-8)), which is near the DISP1 gene on 1q41-q42, a microdeletion region implicated in neurological development. The other six SNPs showing suggestive evidence of association (P<10(-5)) were rs9303380, rs12437601, rs16988159, rs7676822, rs1911877 and rs723815. Among them, two SNPs in strong linkage disequilibrium, rs7676822 and rs1911877, located near the PCDH10 gene, gave P-values of 2.86 × 10(-6) and 8.41 × 10(-6), respectively. The other 35 variations with signals of potential significance (P<10(-4)) involve multiple genes expressed in the brain, including GRIN2B, PCDH10 and GPC6. Our enrichment analysis indicated suggestive roles of genes in the glutamatergic neurotransmission system (false discovery rate (FDR)=0.0097) and the serotonergic system (FDR=0.0213). Although the results presented may provide new insights into genetic mechanisms underlying treatment response in OCD, studies with larger sample sizes and detailed information on drug dosage and treatment duration are needed.

Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS.

Obsessive-compulsive disorder (OCD) is a psychiatric condition characterized by intrusive thoughts and urges and repetitive, intentional behaviors that cause significant distress and impair functioning. The OCD Collaborative Genetics Association Study (OCGAS) is comprised of comprehensively assessed OCD patients with an early age of OCD onset. After application of a stringent quality control protocol, a total of 1065 families (containing 1406 patients with OCD), combined with population-based samples (resulting in a total sample of 5061 individuals), were studied. An integrative analyses pipeline was utilized, involving association testing at single-nucleotide polymorphism (SNP) and gene levels (via a hybrid approach that allowed for combined analyses of the family- and population-based data). The smallest P-value was observed for a marker on chromosome 9 (near PTPRD, P=4.13 × 10(-)(7)). Pre-synaptic PTPRD promotes the differentiation of glutamatergic synapses and interacts with SLITRK3. Together, both proteins selectively regulate the development of inhibitory GABAergic synapses. Although no SNPs were identified as associated with OCD at genome-wide significance level, follow-up analyses of genome-wide association study (GWAS) signals from a previously published OCD study identified significant enrichment (P=0.0176). Secondary analyses of high-confidence interaction partners of DLGAP1 and GRIK2 (both showing evidence for association in our follow-up and the original GWAS study) revealed a trend of association (P=0.075) for a set of genes such as NEUROD6, SV2A, GRIA4, SLC1A2 and PTPRD. Analyses at the gene level revealed association of IQCK and C16orf88 (both P<1 × 10(-)(6), experiment-wide significant), as well as OFCC1 (P=6.29 × 10(-)(5)). The suggestive findings in this study await replication in larger samples.

Polygenic risk, stressful life events and depressive symptoms in older adults: a polygenic score analysis.

BACKGROUND: Previous studies suggest that the relationship between genetic risk and depression may be moderated by stressful life events (SLEs). The goal of this study was to assess whether SLEs moderate the association between polygenic risk of major depressive disorder (MDD) and depressive symptoms in older adults. METHOD: We used logistic and negative binomial regressions to assess the associations between polygenic risk, SLEs and depressive symptoms in a sample of 8761 participants from the Health and Retirement Study. Polygenic scores were derived from the Psychiatric Genomics Consortium genome-wide association study of MDD. SLEs were operationalized as a dichotomous variable indicating whether participants had experienced at least one stressful event during the previous 2 years. Depressive symptoms were measured using an eight-item Center for Epidemiologic Studies Depression Scale subscale and operationalized as both a dichotomous and a count variable. RESULTS: The odds of reporting four or more depressive symptoms were over twice as high among individuals who experienced at least one SLE (odds ratio 2.19, 95% confidence interval 1.86-2.58). Polygenic scores were significantly associated with depressive symptoms (ß = 0.21, p ⩽ 0.0001), although the variance explained was modest (pseudo r 2 = 0.0095). None of the interaction terms for polygenic scores and SLEs was statistically significant. CONCLUSIONS: Polygenic risk and SLEs are robust, independent predictors of depressive symptoms in older adults. Consistent with an additive model, we found no evidence that SLEs moderated the association between common variant polygenic risk and depressive symptoms.

Distinguishing bipolar from unipolar depression: the importance of clinical symptoms and illness features.

BACKGROUND: Distinguishing bipolar disorder (BP) from major depressive disorder (MDD) has important relevance for prognosis and treatment. Prior studies have identified clinical features that differ between these two diseases but have been limited by heterogeneity and lack of replication. We sought to identify depression-related features that distinguish BP from MDD in large samples with replication. METHOD: Using a large, opportunistically ascertained collection of subjects with BP and MDD we selected 34 depression-related clinical features to test across the diagnostic categories in an initial discovery dataset consisting of 1228 subjects (386 BPI, 158 BPII and 684 MDD). Features significantly associated with BP were tested in an independent sample of 1000 BPI cases and 1000 MDD cases for classifying ability in receiver operating characteristic (ROC) analysis. RESULTS: Seven clinical features showed significant association with BPI compared with MDD: delusions, psychomotor retardation, incapacitation, greater number of mixed symptoms, greater number of episodes, shorter episode length, and a history of experiencing a high after depression treatment. ROC analyses of a model including these seven factors showed significant evidence for discrimination between BPI and MDD in an independent dataset (area under the curve = 0.83). Only two features (number of mixed symptoms, and feeling high after an antidepressant) showed an association with BPII versus MDD. CONCLUSIONS: Our study suggests that clinical features distinguishing depression in BPI versus MDD have important classification potential for clinical practice, and should also be incorporated as 'baseline' features in the evaluation of novel diagnostic biomarkers.

Type I interferon signaling genes in recurrent major depression: increased expression detected by whole-blood RNA sequencing.

A study of genome-wide gene expression in major depressive disorder (MDD) was undertaken in a large population-based sample to determine whether altered expression levels of genes and pathways could provide insights into biological mechanisms that are relevant to this disorder. Gene expression studies have the potential to detect changes that may be because of differences in common or rare genomic sequence variation, environmental factors or their interaction. We recruited a European ancestry sample of 463 individuals with recurrent MDD and 459 controls, obtained self-report and semi-structured interview data about psychiatric and medical history and other environmental variables, sequenced RNA from whole blood and genotyped a genome-wide panel of common single-nucleotide polymorphisms. We used analytical methods to identify MDD-related genes and pathways using all of these sources of information. In analyses of association between MDD and expression levels of 13 857 single autosomal genes, accounting for multiple technical, physiological and environmental covariates, a significant excess of low P-values was observed, but there was no significant single-gene association after genome-wide correction. Pathway-based analyses of expression data detected significant association of MDD with increased expression of genes in the interferon α/ß signaling pathway. This finding could not be explained by potentially confounding diseases and medications (including antidepressants) or by computationally estimated proportions of white blood cell types. Although cause-effect relationships cannot be determined from these data, the results support the hypothesis that altered immune signaling has a role in the pathogenesis, manifestation, and/or the persistence and progression of MDD.

A genome-wide association study of attempted suicide.

The heritable component to attempted and completed suicide is partly related to psychiatric disorders and also partly independent of them. Although attempted suicide linkage regions have been identified on 2p11-12 and 6q25-26, there are likely many more such loci, the discovery of which will require a much higher resolution approach, such as the genome-wide association study (GWAS). With this in mind, we conducted an attempted suicide GWAS that compared the single-nucleotide polymorphism (SNP) genotypes of 1201 bipolar (BP) subjects with a history of suicide attempts to the genotypes of 1497 BP subjects without a history of suicide attempts. In all, 2507 SNPs with evidence for association at P<0.001 were identified. These associated SNPs were subsequently tested for association in a large and independent BP sample set. None of these SNPs were significantly associated in the replication sample after correcting for multiple testing, but the combined analysis of the two sample sets produced an association signal on 2p25 (rs300774) at the threshold of genome-wide significance (P=5.07 × 10(-8)). The associated SNPs on 2p25 fall in a large linkage disequilibrium block containing the ACP1 (acid phosphatase 1) gene, a gene whose expression is significantly elevated in BP subjects who have completed suicide. Furthermore, the ACP1 protein is a tyrosine phosphatase that influences Wnt signaling, a pathway regulated by lithium, making ACP1 a functional candidate for involvement in the phenotype. Larger GWAS sample sets will be required to confirm the signal on 2p25 and to identify additional genetic risk factors increasing susceptibility for attempted suicide.

Co-morbid anxiety disorders in bipolar disorder and major depression: familial aggregation and clinical characteristics of co-morbid panic disorder, social phobia, specific phobia and obsessive-compulsive disorder.

BACKGROUND: Co-morbidity of mood and anxiety disorders is common and often associated with greater illness severity. This study investigates clinical correlates and familiality of four anxiety disorders in a large sample of bipolar disorder (BP) and major depressive disorder (MDD) pedigrees. METHOD: The sample comprised 566 BP families with 1416 affected subjects and 675 MDD families with 1726 affected subjects. Clinical characteristics and familiality of panic disorder, social phobia, specific phobia and obsessive-compulsive disorder (OCD) were examined in BP and MDD pedigrees with multivariate modeling using generalized estimating equations. RESULTS: Co-morbidity between mood and anxiety disorders was associated with several markers of clinical severity, including earlier age of onset, greater number of depressive episodes and higher prevalence of attempted suicide, when compared with mood disorder without co-morbid anxiety. Familial aggregation was found with co-morbid panic and OCD in both BP and MDD pedigrees. Specific phobia showed familial aggregation in both MDD and BP families, although the findings in BP were just short of statistical significance after adjusting for other anxiety co-morbidities. We found no evidence for familiality of social phobia. CONCLUSIONS: Our findings suggest that co-morbidity of MDD and BP with specific anxiety disorders (OCD, panic disorder and specific phobia) is at least partly due to familial factors, which may be of relevance to both phenotypic and genetic studies of co-morbidity.

Homeobox genes in obsessive-compulsive disorder.

BACKGROUND: Despite evidence that obsessive-compulsive disorder (OCD) is a familial neuropsychiatric condition, progress aimed at identifying genetic determinants of the disorder has been slow. The OCD Collaborative Genetics Study (OCGS) has identified several OCD susceptibility loci through linkage analysis. METHODS: In this study we investigate two regions on chromosomes 15q and 1q by first refining the linkage region using additional short tandem repeat polymorphic (STRP) markers. We then performed association analysis on single nucleotide polymorphisms (SNP) genotyped (markers placed every 2-4 kb) in the linkage regions in the OCGS sample of 376 rigorously phenotyped affected families. RESULTS: Three SNPs are most strongly associated with OCD: rs11854486 (P = 0.00005 [0.046 after adjustment for multiple tests]; genetic relative risk (GRR) = 11.1 homozygous and 1.6 heterozygous) and rs4625687 [P = 0.00007 (after adjustment = 0.06); GRR = 2.4] on 15q; and rs4387163 (P = 0.0002 (after adjustment = 0.08); GRR = 1.97) on 1q. The first SNP is adjacent to NANOGP8, the second SNP is in MEIS2, and the third is 150 kb between PBX1 and LMX1A. CONCLUSIONS: All the genes implicated by association signals are homeobox genes and are intimately involved in neurodevelopment. PBX1 and MEIS2 exert their effects by the formation of a heterodimeric complex, which is involved in development of the striatum, a brain region involved in the pathophysiology of OCD. NANOGP8 is a retrogene of NANOG, a homeobox transcription factor known to be involved in regulation of neuronal development. These findings need replication; but support the hypothesis that genes involved in striatal development are implicated in the pathogenesis of OCD.

Design and optimization of an experimental maintenance system for yellow clam broodstock Amarilladesma mactroides (Reeve, 1854).

The yellow clam is a sand-burrowing bivalve that inhabits the dissipative beaches from southern Brazil to the north coast of Argentina. In the last decades, populations of this species have been impacted by mass mortality events, overfishing and other anthropogenic activities. The production of juveniles in captivity would allow feasibility studies to be carried out to restore the natural stock as well as the production in aquaculture systems. Given the scarcity of studies on the maintenance of this species in captivity, a culture system and a management protocol were developed and tested. Wild-caught clams (total length ≥50 mm) were used in a series of 14 day-long trials. Survival was higher in clams that were allowed to bury into the sand. A permanent ink marker covered with a thin layer of a quick-hardening adhesive proved to be a reliable method to tag clams. The maintenance of yellow clams in this system resulted in high survival and growth, increases in the condition factor and oocyte diameter, and a relative advancement of gonadal development.

Unlocking the potential of big data to support tactical performance analysis in professional soccer: A systematic review.

In professional soccer, increasing amounts of data are collected that harness great potential when it comes to analysing tactical behaviour. Unlocking this potential is difficult as big data challenges the data management and analytics methods commonly employed in sports. By joining forces with computer science, solutions to these challenges could be achieved, helping sports science to find new insights, as is happening in other scientific domains. We aim to bring multiple domains together in the context of analysing tactical behaviour in soccer using position tracking data. A systematic literature search for studies employing position tracking data to study tactical behaviour in soccer was conducted in seven electronic databases, resulting in 2338 identified studies and finally the inclusion of 73 papers. Each domain clearly contributes to the analysis of tactical behaviour, albeit in - sometimes radically - different ways. Accordingly, we present a multidisciplinary framework where each domain's contributions to feature construction, modelling and interpretation can be situated. We discuss a set of key challenges concerning the data analytics process, specifically feature construction, spatial and temporal aggregation. Moreover, we discuss how these challenges could be resolved through multidisciplinary collaboration, which is pivotal in unlocking the potential of position tracking data in sports analytics.

Family-based association of FKBP5 in bipolar disorder.

The FKBP5 gene product forms part of a complex with the glucocorticoid receptor and can modulate cortisol-binding affinity. Variations in the gene have been associated with increased recurrence of depression and with rapid response to antidepressant treatment. We sought to determine whether common FKBP5 variants confer risk for bipolar disorder. We genotyped seven tag single-nucleotide polymorphisms (SNPs) in FKBP5, plus two SNPs previously associated with illness, in 317 families with 554 bipolar offspring, derived primarily from two studies. Single marker and haplotypic analyses were carried out with FBAT and EATDT employing the standard bipolar phenotype. Association analyses were also conducted using 11 disease-related variables as covariates. Under an additive genetic model, rs4713902 showed significant overtransmission of the major allele (P=0.0001), which was consistent across the two sample sets (P=0.004 and 0.006). rs7757037 showed evidence of association that was strongest under the dominant model (P=0.001). This result was consistent across the two datasets (P=0.017 and 0.019). The dominant model yielded modest evidence for association (P<0.05) for three additional markers. Covariate-based analyses suggested that genetic variation within FKBP5 may influence attempted suicide and number of depressive episodes in bipolar subjects. Our results are consistent with the well-established relationship between the hypothalamic-pituitary-adrenal (HPA) axis, which mediates the stress response through regulation of cortisol, and mood disorders. Ongoing whole-genome association studies in bipolar disorder and major depression should further clarify the role of FKBP5 and other HPA genes in these illnesses.

Sex-specific association of the Reelin gene with bipolar disorder.

The Reelin gene (RELN) encodes a secretory glycoprotein critical for brain development and synaptic plasticity. Post-mortem studies have shown lower Reelin protein levels in the brains of patients with schizophrenia and bipolar disorder (BP) compared with controls. In a recent genome-wide association study of schizophrenia, the strongest association was found in a marker within RELN, although this association was seen only in women. In this study, we investigated whether genetic variation in RELN is associated with BP in a large family sample. We genotyped 75 tagSNPs and 6 coding SNPs in 1,188 individuals from 318 nuclear families, including 554 affected offspring. Quality control measures, transmission-disequilibrium tests (TDTs), and empirical simulations were performed in PLINK. We found a significant overtransmission of the C allele of rs362719 to BP offspring (OR = 1.47, P = 5.9 x 10(-4)); this withstood empirical correction for testing of multiple markers (empirical P = 0.048). In a hypothesis-driven secondary analysis, we found that the association with rs362719 was almost entirely accounted for by overtransmission of the putative risk allele to affected females (OR(Female) = 1.79, P = 8.9 x 10(-5) vs. OR(Male) = 1.12, P = 0.63). These results provide preliminary evidence that genetic variation in RELN is associated with susceptibility to BP and, in particular, to BP in females. However, our findings should be interpreted with caution until further replication and functional assays provide convergent support.

Design and optimization of an experimental maintenance system for yellow clam broodstock Amarilladesma mactroides (Reeve, 1854) / Desenvolvimento e otimização de um sistema de manutenção experimental para reprodutores de marisco branco Amarilladesma mactroides (Reeve, 1854)

The yellow clam is a sand-burrowing bivalve that inhabits the dissipative beaches from southern Brazil to the north coast of Argentina. In the last decades, populations of this species have been impacted by mass mortality events, overfishing and other anthropogenic activities. The production of juveniles in captivity would allow feasibility studies to be carried out to restore the natural stock as well as the production in aquaculture systems. Given the scarcity of studies on the maintenance of this species in captivity, a culture system and a management protocol were developed and tested. Wild-caught clams (total length ≥50 mm) were used in a series of 14 day-long trials. Survival was higher in clams that were allowed to bury into the sand. A permanent ink marker covered with a thin layer of a quick-hardening adhesive proved to be a reliable method to tag clams. The maintenance of yellow clams in this system resulted in high survival and growth, increases in the condition factor and oocyte diameter, and a relative advancement of gonadal development.

O marisco branco é um bivalve de areia que habita as praias dissipativas do sul do Brasil até a costa norte da Argentina. Nas últimas décadas, as populações desta espécie têm sido afetadas por eventos de mortalidade maciça, sobrepesca e outras atividades antropogênicas. A produção de juvenis em cativeiro permitiria a realização de estudos de viabilidade para restaurar o estoque natural, assim como a produção em sistemas de aquicultura. Dada a escassez de estudos sobre a manutenção desta espécie em cativeiro, um sistema de cultivo e um protocolo de manejo foram desenvolvidos e testados. Mariscos branco selvagens (comprimento total ≥50 mm) foram utilizados em uma série de ensaios de 14 dias de duração. A sobrevivência foi maior nos mariscos que podiam ser enterrados na areia. Um marcador de tinta permanente coberto com uma fina camada de adesivo de endurecimento rápido provou ser um método confiável para marcar os mariscos. A manutenção dos mariscos neste sistema resultou em alta sobrevivência e crescimento, aumento do fator de condição e do diâmetro do ovócito, e um relativo avanço do desenvolvimento gonadal.

Design and optimization of an experimental maintenance system for yellow clam broodstock Amarilladesma mactroides (Reeve, 1854) / Desenvolvimento e otimização de um sistema de manutenção experimental para reprodutores de marisco branco Amarilladesma mactroides (Reeve, 1854)

The yellow clam is a sand-burrowing bivalve that inhabits the dissipative beaches from southern Brazil to the north coast of Argentina. In the last decades, populations of this species have been impacted by mass mortality events, overfishing and other anthropogenic activities. The production of juveniles in captivity would allow feasibility studies to be carried out to restore the natural stock as well as the production in aquaculture systems. Given the scarcity of studies on the maintenance of this species in captivity, a culture system and a management protocol were developed and tested. Wild-caught clams (total length ≥50 mm) were used in a series of 14 day-long trials. Survival was higher in clams that were allowed to bury into the sand. A permanent ink marker covered with a thin layer of a quick-hardening adhesive proved to be a reliable method to tag clams. The maintenance of yellow clams in this system resulted in high survival and growth, increases in the condition factor and oocyte diameter, and a relative advancement of gonadal development.

O marisco branco é um bivalve de areia que habita as praias dissipativas do sul do Brasil até a costa norte da Argentina. Nas últimas décadas, as populações desta espécie têm sido afetadas por eventos de mortalidade maciça, sobrepesca e outras atividades antropogênicas. A produção de juvenis em cativeiro permitiria a realização de estudos de viabilidade para restaurar o estoque natural, assim como a produção em sistemas de aquicultura. Dada a escassez de estudos sobre a manutenção desta espécie em cativeiro, um sistema de cultivo e um protocolo de manejo foram desenvolvidos e testados. Mariscos branco selvagens (comprimento total ≥50 mm) foram utilizados em uma série de ensaios de 14 dias de duração. A sobrevivência foi maior nos mariscos que podiam ser enterrados na areia. Um marcador de tinta permanente coberto com uma fina camada de adesivo de endurecimento rápido provou ser um método confiável para marcar os mariscos. A manutenção dos mariscos neste sistema resultou em alta sobrevivência e crescimento, aumento do fator de condição e do diâmetro do ovócito, e um relativo avanço do desenvolvimento gonadal.

Design and optimization of an experimental maintenance system for yellow clam broodstock Amarilladesma mactroides (Reeve, 1854)

Abstract The yellow clam is a sand-burrowing bivalve that inhabits the dissipative beaches from southern Brazil to the north coast of Argentina. In the last decades, populations of this species have been impacted by mass mortality events, overfishing and other anthropogenic activities. The production of juveniles in captivity would allow feasibility studies to be carried out to restore the natural stock as well as the production in aquaculture systems. Given the scarcity of studies on the maintenance of this species in captivity, a culture system and a management protocol were developed and tested. Wild-caught clams (total length 50 mm) were used in a series of 14 day-long trials. Survival was higher in clams that were allowed to bury into the sand. A permanent ink marker covered with a thin layer of a quick-hardening adhesive proved to be a reliable method to tag clams. The maintenance of yellow clams in this system resulted in high survival and growth, increases in the condition factor and oocyte diameter, and a relative advancement of gonadal development.

Resumo O marisco branco é um bivalve de areia que habita as praias dissipativas do sul do Brasil até a costa norte da Argentina. Nas últimas décadas, as populações desta espécie têm sido afetadas por eventos de mortalidade maciça, sobrepesca e outras atividades antropogênicas. A produção de juvenis em cativeiro permitiria a realização de estudos de viabilidade para restaurar o estoque natural, assim como a produção em sistemas de aquicultura. Dada a escassez de estudos sobre a manutenção desta espécie em cativeiro, um sistema de cultivo e um protocolo de manejo foram desenvolvidos e testados. Mariscos branco selvagens (comprimento total 50 mm) foram utilizados em uma série de ensaios de 14 dias de duração. A sobrevivência foi maior nos mariscos que podiam ser enterrados na areia. Um marcador de tinta permanente coberto com uma fina camada de adesivo de endurecimento rápido provou ser um método confiável para marcar os mariscos. A manutenção dos mariscos neste sistema resultou em alta sobrevivência e crescimento, aumento do fator de condição e do diâmetro do ovócito, e um relativo avanço do desenvolvimento gonadal.

Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD.

Obsessive-compulsive disorder (OCD) and Autism spectrum disorder (ASD) are both highly heritable neurodevelopmental disorders that conceivably share genetic risk factors. However, the underlying genetic determinants remain largely unknown. In this work, the authors describe a combined genome-wide association study (GWAS) of ASD and OCD. The OCD dataset includes 2998 individuals in nuclear families. The ASD dataset includes 6898 individuals in case-parents trios. GWAS summary statistics were examined for potential enrichment of functional variants associated with gene expression levels in brain regions. The top ranked SNP is rs4785741 (chromosome 16) with P value=6.9×10-7 in our re-analysis. Polygenic risk score analyses were conducted to investigate the genetic relationship within and across the two disorders. These analyses identified a significant polygenic component of ASD, predicting 0.11% of the phenotypic variance in an independent OCD data set. In addition, we examined the genomic architecture of ASD and OCD by estimating heritability on different chromosomes and different allele frequencies, analyzing genome-wide common variant data by using the Genome-wide Complex Trait Analysis (GCTA) program. The estimated global heritability of OCD is 0.427 (se=0.093) and 0.174 (se=0.053) for ASD in these imputed data.

Dependent personality, separation anxiety disorder and other anxiety disorders in OCD.

BACKGROUND: The purpose of this study was to investigate whether dependent personality and/or general personality dimensions might explain the strong relationships between separation anxiety disorder (Sep-AD) and three other anxiety disorders (agoraphobia, panic disorder and social anxiety disorder) in individuals with obsessive compulsive disorder (OCD). METHODS: Using data from 509 adult participants collected during the OCD Collaborative Genetic Study, we used logistic regression models to evaluate the relationships between Sep-AD, dependent personality score, general personality dimensions and three additional anxiety disorders. RESULTS: The dependent personality score was strongly associated with Sep-AD and the other anxiety disorders in models adjusted for age at interview, age at onset of OC symptoms and worst ever OCD severity score. Several general personality dimensions, especially neuroticism, extraversion and conscientiousness, were also related to Sep-AD and the other anxiety disorders. Sep-AD was not independently related to these anxiety disorders, in multivariate models including general personality and dependent personality disorder scores. CONCLUSIONS: The results suggest that Sep-AD in childhood and these other anxiety disorders in adulthood are consequences of dependent personality disorder (for agoraphobia and panic disorder) or introversion (for social phobia). It is unknown whether these results would be similar in a non-OCD sample.