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Major depressive disorder and neuroticism (Neu) share a large genetic basis. We sought to determine whether this shared basis could be decomposed to identify genetic factors that are specific to depression.
We analysed summary statistics from genome-wide association studies (GWAS) of depression (from the Psychiatric Genomics Consortium, 23andMe and UK Biobank) and compared them with GWAS of Neu (from UK Biobank). First, we used a pairwise GWAS analysis to classify variants as associated with only depression, with only Neu or with both. Second, we estimated partial genetic correlations to test whether the depression's genetic link with other phenotypes was explained by shared overlap with Neu.
We found evidence that most genomic regions (25/37) associated with depression are likely to be shared with Neu. The overlapping common genetic variance of depression and Neu was genetically correlated primarily with psychiatric disorders. We found that the genetic contributions to depression, that were not shared with Neu, were positively correlated with metabolic phenotypes and cardiovascular disease, and negatively correlated with the personality trait conscientiousness. After removing shared genetic overlap with Neu, depression still had a specific association with schizophrenia, bipolar disorder, coronary artery disease and age of first birth. Independent of depression, Neu had specific genetic correlates in ulcerative colitis, pubertal growth, anorexia and education.
Our findings demonstrate that, while genetic risk factors for depression are largely shared with Neu, there are also non-Neu-related features of depression that may be useful for further patient or phenotypic stratification.
We describe a new extinct spiny rat, Proclinodontomys dondasi n. gen. n. sp. (Rodentia, Caviomorpha, Echimyidae), represented by a noteworthy preserved skull and mandible from the early-middle Pleistocene outcrops at the coastal cliffs of SE Buenos Aires Province (Central Argentina). Phylogenetic analyses allow us to propose that the new species described here and the already known Eurzygomatomys mordax (Winge) represent a new genus closely related to the living Euryzygomatomys spinosus and Clyomys laticeps. The new genus differs from Euryzygomatomys and Clyomys by having much more procumbent upper incisors, a more developed fossa for the M. temporalis, more flared and laterally expanded zygomatic arches, frontal less markedly expanded posteriorly, jugals much deeper anteriorly than posteriorly, with the dorsal border descending more abruptly posteriorly, smaller orbital cavity, and external auditory meatus relatively smaller and slanted upward and backward. Several features of the new species reflect a higher degree of adaptation to semifossorial habits than those of E. spinosus. The origin of the semifossorial ecomorphotype within echimyids may have been triggered by the expansion of relatively open and arid environments that arose near the Miocene-Pliocene boundary. The record of this new echimyid in Central Argentina indicates that during the early-middle Pleistocene, the southern limit of the geographic range of extinct representatives of the Brazilian lineage of semifossorial echimyids extended farther south than that of their living members.
The Rio Branco is a river with unique biogeographic and ecological features, threatened by the Brazilian Government’s plan to build a major hydroelectric dam and associated hydroway along its course. The river crosses one of Amazonia’s largest rainfall gradients and a major geomorphological boundary along a savanna/forest ecotone, marked by the Bem Querer rapids. Above the rapids, the upper Rio Branco runs through the Boa Vista sedimentary formation and crosses the crystalline rocks of the Guiana Shield, and its margins are flanked by gallery forests. Downriver, it runs through a low-lying sedimentary basin, with Amazonian floodplain forests along its margins. Here, we present the results of ∼ 15 years of ornithological research on the Branco and its major tributaries, providing baseline data and evaluating potential threats to the riverine avifauna. Our surveys included opportunistic observations and standardized surveys along the entire length of the river in 16 systematically distributed localities. We catalogued 439 bird species, 87% of which are documented by physical evidence (specimens, recordings, photographs). Forty-six percent are restricted to single habitats, suggesting a high degree of habitat specialisation. A third of the species are widely distributed along the river, whereas 45% are restricted to either the upper or the lower Rio Branco, including 40 and 30 Indicator Species, respectively. Twenty-five species are threatened at global or national levels, including two ‘Critically Endangered’, nine ‘Vulnerable’, and 14 ‘Near Threatened’. We present a list of 50 bird species that are candidates for monitoring studies. Threats to the avifauna from dam construction include permanent flooding above the dam, eliminating gallery forests, river islands, and sandy beaches, and the disruption of the flood pulse along the river, affecting river island and floodplain forest specialists, many of which are globally threatened with extinction. If built, the Bem Querer dam will wipe out the ecotone region and affect dramatically the river’s avifauna.
Objectives: Subjective memory complaints (SMC) in older adults are associated with a decline in everyday functioning and an increased risk for future cognitive decline. This study examines the effect of a memory strategy training compared to a control memory training on memory functioning in daily life. Methods: This was a randomized controlled trial with baseline, post-treatment, and 6-month follow-up assessments conducted in 60 older adults (50–87 years) with SMC. Participants were randomly assigned to either seven sessions of memory strategy training or seven sessions of control memory training. Both interventions were given in small groups and included psycho-education. Primary outcome measure was memory functioning in daily life. Objective measures of memory performance and self-reported measures of strategy use were included as secondary outcome measures. Results: Participants in each intervention group reported an improvement in personal memory goals (p<.0005), up to 6 months after training. An interaction effect showed that participants following memory strategy training reported a larger improvement in personal memory goals (p=.002). Both intervention groups improved on two memory tests (p<.001 and p<.01). In the memory strategy training group, an increase in strategy use in daily life was the strongest predictor (p<.05) of improvement in subjective memory functioning. Conclusions: Older adults with subjective memory complaints benefit from memory strategy training, especially in their memory functioning in daily life. (JINS, 2018, 24, 1110–1120)
Little information is available on the effects of different sources of tannins on ruminant product quality. Nowadays several tannin-rich extracts, produced from different plants, are available and contain tannins belonging to different chemical groups, but most of these have not been used so far as feed supplements. The present study aimed at comparing the effects of feeding three tannin extracts (one containing condensed tannins and two containing hydrolysable tannins) to lambs on growth performances and meat oxidative stability. Comisana male lambs were divided into four groups (n=9 each) and were fed for 75 days: a concentrate-based diet (CON), or CON supplemented with 4% tannin extracts from either mimosa (MI; Acacia mearnsii, De Wild; condensed tannins), chestnut (CH; Castanea sativa, Mill; hydrolysable ellagitannins) or tara (TA; Cesalpinia spinosa, (Molina) Kuntze; hydrolysable gallotannins). Only CH reduced growth rate, final weight, carcass weight and feed intake (P<0.05). Tannins did not affect the concentration of the main fatty acid classes and the peroxidability of the intramuscular fat (P>0.05). The TA diet increased (P<0.001) the concentration of γ-tocopherol in muscle and tended to increase that of α-tocopherol (P=0.058). Oxidative stability of raw and cooked meat, or of meat homogenates incubated with pro-oxidants, was not affected by the extracts. These results, compared with those reported in the literature, highlight that some effects of tannins cannot be easily generalized, but may strictly depend on their specific characteristics and on conditions inherent to the basal diet and the metabolic status of the animals.
This work is part of the interlaboratory collaboration to study the stability of organic solar cells containing PCDTBT polymer as a donor material. The varieties of the OPV devices with different device architectures, electrode materials, encapsulation, and device dimensions were prepared by seven research laboratories. Sets of identical devices were aged according to four different protocols: shelf lifetime, laboratory weathering under simulated illumination at ambient temperature, laboratory weathering under simulated illumination, and elevated temperature (65 °C) and daylight outdoor weathering under sunlight. The results generated in this study allow us to outline several general conclusions related to PCDTBT-based bulk heterojunction (BHJ) solar cells. The results herein reported can be considered as practical guidance for the realization of stabilization approaches in BHJ solar cells containing PCDTBT.
This study addresses aspects of the phylogenetic relationships of the commercial Tehuelche scallop, Aequipecten tehuelchus s.l. (Bivalvia: Pectinidae), from southern South America using molecular techniques. The Tehuelche scallop presents two different putative subspecies, A. t. tehuelchus and A. t. madrynensis, and a potentially related sympatric species, Flexopecten felipponei. The Tehuelche scallop is a very important component of ecosystems and is the target of artisanal fisheries in the northern Patagonian gulfs of Argentina. Despite its importance, the systematic relationships of these taxa have not been fully addressed. The main goal of this study is to place the Tehuelche scallop within a partial phylogenetic framework of the family Pectinidae. Scallops were sampled at 10 localities distributed along the south-western Atlantic Ocean. Phylogenetic reconstructions were carried out from two mitochondrial (12S rRNA and 16S rRNA) and two nuclear markers (28S rRNA and H3) using Bayesian, maximum likelihood and maximum parsimony analyses. Our phylogenetic analysis indicates that the two putative subspecies of the Tehuelche scallop together with F. felipponei form a monophyletic clade, without differentiating at the specific level. Observed differences would be the result of phenotypic plasticity, probably caused by environmental factors. However, further analysis using genes with faster evolution rate are needed to corroborate it. Our phylogenetic analysis resolved to Aequipecten as polyphyletic. The Tehuelche scallop has a basal position within the Argopecten group and we recommend that it should be transferred to this genus. The relationship between the hypotheses about the origin of the Tehuelche scallop implicit in the literature and our results are discussed.
Animals that share resources tend to use different foraging strategies in order to decrease potential competition. Scavenging birds using the same nutritional resources can segregate into different space and time scales. However, it has been suggested that when the species do not co-evolve to achieve such segregation competition may result. Our aim was to study the trophic niche overlap between three species of obligate scavengers, the Andean Condor Vultur gryphus, Turkey Vulture Cathartes aura and American Black Vulture Coragyps atratus, which are the main avian consumers of carcasses in north-western Patagonia. Black Vultures arrived in the area relatively recently, have expanded their distribution following human activities, and have been suggested to compete with the threatened condor. We collected pellets in communal roosts of the three species to determine their diet, and to estimate the diversity (Shannon Index) and diet similarity (Pianka overlap index). We found that the Turkey Vulture has greater niche breadth and, apart from domestic livestock, it incorporates smaller items such as fish, reptiles and a great number of birds, carnivores and mice. Although the Black Vulture diet includes arthropods, they feed primarily on introduced ungulates, overlapping more with condor diet when roosting far from urban centres. As these latter two species share the same food resource, human activities that positively affect the abundance of the Black Vulture could increase competition among them, with possible implications for the conservation of the Andean Condor.
Prior research has typically found a negative relationship between chronic pain and memory, and we examined whether cognitive control processes (e.g. reflection and rumination) moderated this relationship in individuals with Chiari malformation Type I (CM). CM is a neurological condition in which the cerebellar tonsils descend into the medullary and upper cervical spine regions potentially resulting in severe headaches and neck pain.
CM patients who had (n = 341) and had not (n = 297) undergone decompression surgery completed the McGill Pain Questionnaire-Short Form-Revised (SF-MPQ-2), the Rey Auditory Verbal Learning Test (RAVLT), and the Rumination-Reflection Questionnaire (RRQ). Immediate recall scores were compared to those of 102 healthy controls, and delayed recall performance was compared across other variables within the CM group.
CM patients performed more poorly on immediate recall than did controls. Within CM patients, we observed main effects for reflection and age, and a pain x reflection x surgical status (surgery v. no surgery) interaction in which non-decompressed individuals with low levels of pain and high levels of reflection showed superior delayed recall relative to non-decompressed individuals with higher pain and all decompressed individuals.
CM patients show an immediate recall deficit relative to controls, regardless of surgical status. High levels of reflection were associated with better delayed recall performance in non-decompressed CM patients with lower pain levels. High levels of chronic pain may overwhelm increased focused attention abilities, but higher levels of reflection partially overcome the distracting effects of pain and this may represent a type of resilience.
Approximately half of the variation in wellbeing measures overlaps with variation in personality traits. Studies of non-human primate pedigrees and human twins suggest that this is due to common genetic influences. We tested whether personality polygenic scores for the NEO Five-Factor Inventory (NEO-FFI) domains and for item response theory (IRT) derived extraversion and neuroticism scores predict variance in wellbeing measures. Polygenic scores were based on published genome-wide association (GWA) results in over 17,000 individuals for the NEO-FFI and in over 63,000 for the IRT extraversion and neuroticism traits. The NEO-FFI polygenic scores were used to predict life satisfaction in 7 cohorts, positive affect in 12 cohorts, and general wellbeing in 1 cohort (maximal N = 46,508). Meta-analysis of these results showed no significant association between NEO-FFI personality polygenic scores and the wellbeing measures. IRT extraversion and neuroticism polygenic scores were used to predict life satisfaction and positive affect in almost 37,000 individuals from UK Biobank. Significant positive associations (effect sizes <0.05%) were observed between the extraversion polygenic score and wellbeing measures, and a negative association was observed between the polygenic neuroticism score and life satisfaction. Furthermore, using GWA data, genetic correlations of -0.49 and -0.55 were estimated between neuroticism with life satisfaction and positive affect, respectively. The moderate genetic correlation between neuroticism and wellbeing is in line with twin research showing that genetic influences on wellbeing are also shared with other independent personality domains.
The aim of this study was to investigate the effect of dietary whole dried citrus pulp (DCP) on the antioxidant status of lamb tissues. In total, 17 lambs were divided into two groups and fed for 56 days: a barley-based concentrate diet (CON – eight animals), or a concentrate-based diet including 35% DCP to partially replace barley (CIT – nine animals). The CIT diet contained a double concentration of phenolic compounds than the CON diet (7.9 v. 4.0 g/kg dry matter (DM), respectively), but had no effect (P>0.05) on the overall antioxidant capacity of the hydrophilic fraction of blood plasma, liver and muscle. The CIT diet contained clearly more α-tocopherol than the CON diet (45.7 v. 10.3 mg/kg DM), which could explain the higher concentration of α-tocopherol in liver, plasma and muscle (P<0.05). The dietary treatment had no effect on the extent of lipid peroxidation, measured as thiobarbituric acid and reactive substances assay (TBARS values) in the faeces, small intestine, liver, plasma and muscle. Nevertheless, when muscle homogenates were incubated in the presence of Fe3+/ascorbate to induce lipid peroxidation, the muscle from lambs fed DCP displayed lower TBARS values (P<0.01), which negatively correlated with the concentration of α-tocopherol in muscle. These results showed that feeding whole DCP to ruminants increases the antioxidant status of muscle through an increase in the deposition of α-tocopherol.
Structural brain magnetic resonance imaging (MRI) traits share part of their genetic variance with cognitive traits. Here, we use genetic association results from large meta-analytic studies of genome-wide association (GWA) for brain infarcts (BI), white matter hyperintensities, intracranial, hippocampal, and total brain volumes to estimate polygenic scores for these traits in three Scottish samples: Generation Scotland: Scottish Family Health Study (GS:SFHS), and the Lothian Birth Cohorts of 1936 (LBC1936) and 1921 (LBC1921). These five brain MRI trait polygenic scores were then used to: (1) predict corresponding MRI traits in the LBC1936 (numbers ranged 573 to 630 across traits), and (2) predict cognitive traits in all three cohorts (in 8,115–8,250 persons). In the LBC1936, all MRI phenotypic traits were correlated with at least one cognitive measure, and polygenic prediction of MRI traits was observed for intracranial volume. Meta-analysis of the correlations between MRI polygenic scores and cognitive traits revealed a significant negative correlation (maximal r = 0.08) between the HV polygenic score and measures of global cognitive ability collected in childhood and in old age in the Lothian Birth Cohorts. The lack of association to a related general cognitive measure when including the GS:SFHS points to either type 1 error or the importance of using prediction samples that closely match the demographics of the GWA samples from which prediction is based. Ideally, these analyses should be repeated in larger samples with data on both MRI and cognition, and using MRI GWA results from even larger meta-analysis studies.
Many instruments have been developed and validated to assess the stigma associated with mental disorders and its various domains across different populations. To our knowledge, the Reported and Intended Behaviour Scale (RIBS) is the only validated questionnaire to analyse the presence of reported and intended stigmatising/discriminatory behaviours towards people with mental health problems in the general population. The aims of the study presented herein are to translate and validate the RIBS in Italian language and to adapt it to the Italian socio-cultural background (RIBS-I).
The RIBS considers reported and intended behaviours across four different domains: (1) living with, (2) working with, (3) living nearby and (4) continuing a relationship with someone with a mental health problem. The validation process included four phases: (1) translation/back translation of the questionnaire from English to Italian and vice versa; (2,3) face validity and reliability of RIBS-I; (4) description of model fit through confirmatory factor analysis. The questionnaire was administered to a sample of the general public via distribution in public places such as shopping centres, markets, squares, cinemas and other gathering places. Questionnaires were administered by trained mental health professionals.
A total of 447 lay respondents were recruited. The mean age was 38.08 (s.d. = ±14.74) years. Fifty-seven per cent of the sample (n = 257) were female. The Cronbach alpha of RIBS-I was 0.83. All indices of model fit were above the reference values: Goodness of Fit Index (GFI) = 0.987 (GFI > 0.9); Adjusted Goodness of Fit Index (AGFI) = 0.975 (AGFI > 0.9); Comparative Fit Index (CFI) = 0.994 (CFI > 0.9); and Root-Mean-Square Error of Approximation (RMSEA) = 0.023 (RMSEA < 0.05). The χ2 = 23.60 (df = 19; p = 0.21) and χ2/df = 1.24 supported the model.
The RIBS-I demonstrated good psychometric properties and it can be considered a useful tool to: (1) assess stigmatising (actual or potential) behaviours in the general population; (2) test the efficacy of anti-stigma campaigns and actions; (3) design further studies to better understand the relationship between the three different components of stigmatisation: knowledge, attitudes and behaviours.
Many students treated for cancer experience significant challenges in maintaining their education during and beyond cancer treatment. Late effects of cancer treatment combined with prolonged periods of missed schooling can dramatically impact upon a student's physical, cognitive and social development. This study examined the relationship between cancer type, cancer treatment, time absent from school, school services and academic areas affected by the cancer diagnosis. An online survey was completed by 80 parents, representing 80 children with cancer, and 136 siblings. Twenty-four parents/carers participated in five focus groups held across rural and regional New South Wales (NSW). Additional difficulties for children and adolescents post cancer treatment were reported by 62.3% of parents and included difficulties with attention, mobility, hearing and fine motor skills. Further areas of specific academic need were identified in mathematics, memory, concentration and confidence. Despite the high level of additional need, only 9.3% of students were reported as receiving additional funding support upon their return to school. Emotional descriptions referring to turmoil, lack of understanding and lack of support were contained within the focus group transcriptions. Results indicated a high level of specific educational and psychosocial needs for this group of students who, having overcome a potentially fatal illness, must continue to fight to learn.
Variation in human cognitive ability is of consequence to a large number of health and social outcomes and is substantially heritable. Genetic linkage, genome-wide association, and copy number variant studies have investigated the contribution of genetic variation to individual differences in normal cognitive ability, but little research has considered the role of rare genetic variants. Exome sequencing studies have already met with success in discovering novel trait-gene associations for other complex traits. Here, we use exome sequencing to investigate the effects of rare variants on general cognitive ability. Unrelated Scottish individuals were selected for high scores on a general component of intelligence (g). The frequency of rare genetic variants (in n = 146) was compared with those from Scottish controls (total n = 486) who scored in the lower to middle range of the g distribution or on a proxy measure of g. Biological pathway analysis highlighted enrichment of the mitochondrial inner membrane component and apical part of cell gene ontology terms. Global burden analysis showed a greater total number of rare variants carried by high g cases versus controls, which is inconsistent with a mutation load hypothesis whereby mutations negatively affect g. The general finding of greater non-synonymous (vs. synonymous) variant effects is in line with evolutionary hypotheses for g. Given that this first sequencing study of high g was small, promising results were found, suggesting that the study of rare variants in larger samples would be worthwhile.
This study was conducted to determine the effects of feeding olive cake and linseed to lambs on the volatile organic compounds (VOCs) in raw and cooked meat. Four groups of eight male Appenninica lambs each were fed: conventional cereal-based concentrates (diet C), concentrates containing 20% on a dry matter (DM) basis of rolled linseed (diet L), concentrates containing 35% DM of stoned olive cake (diet OC), or concentrates containing both rolled linseed (10% DM) and stoned olive cake (17% DM; diet OCL). The longissimus dorsi muscle of each lamb was sampled at slaughter and was subjected to VOC profiling through the use of SPME-GC-MS. In the raw meat, the concentration of 3-methylpentanoic acid was higher in treatment C as compared with treatments L, OC and OCL (P<0.01). Moreover the level of nonanoic acid was greater in treatments C and OC than in treatment L (P<0.05). With respect to alcohols, in raw meat the amount of 2-phenoxyethanol in treatment OCL was lower than in treatments C (P<0.01) and OC (P<0.05), while in cooked meat the amount of 1-pentanol was higher in treatment C than in treatment OC (P<0.05). Apart from these compounds, none of the lipid oxidation-derived volatiles was significantly affected by the dietary treatment. Therefore, the results suggest that the replacement of cereal concentrates with linseed and/or olive cake did not cause appreciable changes in the production of volatile organic compounds in lamb meat.