Individual Variation in Contagious Yawning Susceptibility Is Highly Stable and Largely Unexplained by Empathy or Other Known Factors

The contagious aspect of yawning is a well-known phenomenon that exhibits variation in the human population. Despite the observed variation, few studies have addressed its intra-individual reliability or the factors modulating differences in the susceptibility of healthy volunteers. Due to its obvious biological basis and impairment in diseases like autism and schizophrenia, a better understanding of this trait could lead to novel insights into these conditions and the general biological functioning of humans. We administered 328 participants a 3-minute yawning video stimulus, a cognitive battery, and a comprehensive questionnaire that included measures of empathy, emotional contagion, circadian energy rhythms, and sleepiness. Individual contagious yawning measurements were found to be highly stable across testing sessions, both in a lab setting and if administered remotely online, confirming that certain healthy individuals are less susceptible to contagious yawns than are others. Additionally, most individuals who failed to contagiously yawn in our study were not simply suppressing their reaction, as they reported not even feeling like yawning in response to the stimulus. In contrast to previous studies indicating that empathy, time of day, or intelligence may influence contagious yawning susceptibility, we found no influence of these variables once accounting for the age of the participant. Participants were less likely to show contagious yawning as their age increased, even when restricting to ages of less than 40 years. However, age was only able to explain 8% of the variability in the contagious yawn response. The vast majority of the variability in this extremely stable trait remained unexplained, suggesting that studies of its inheritance are warranted

Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.

Schizophrenia is a severe psychiatric disorder with strong heritability and marked heterogeneity in symptoms, course, and treatment response. There is strong interest in identifying genetic risk factors that can help to elucidate the pathophysiology and that might result in the development of improved treatments. Linkage and genome-wide association studies (GWASs) suggest that the genetic basis of schizophrenia is heterogeneous. However, it remains unclear whether the underlying genetic variants are mostly moderately rare and can be identified by the genotyping of variants observed in sequenced cases in large follow-up cohorts or whether they will typically be much rarer and therefore more effectively identified by gene-based methods that seek to combine candidate variants. Here, we consider 166 persons who have schizophrenia or schizoaffective disorder and who have had either their genomes or their exomes sequenced to high coverage. From these data, we selected 5,155 variants that were further evaluated in an independent cohort of 2,617 cases and 1,800 controls. No single variant showed a study-wide significant association in the initial or follow-up cohorts. However, we identified a number of case-specific variants, some of which might be real risk factors for schizophrenia, and these can be readily interrogated in other data sets. Our results indicate that schizophrenia risk is unlikely to be predominantly influenced by variants just outside the range detectable by GWASs. Rather, multiple rarer genetic variants must contribute substantially to the predisposition to schizophrenia, suggesting that both very large sample sizes and gene-based association tests will be required for securely identifying genetic risk factors. © 2012 The American Society of Human Genetics

Identification of multiple rare variants associated with a disease

Identifying rare variants that are responsible for complex disease has been promoted by advances in sequencing technologies. However, statistical methods that can handle the vast amount of data generated and that can interpret the complicated relationship between disease and these variants have lagged. We apply a zero-inflated Poisson regression model to take into account the excess of zeros caused by the extremely low frequency of the 24,487 exonic variants in the Genetic Analysis Workshop 17 data. We grouped the 697 subjects in the data set as Europeans, Asians, and Africans based on principal components analysis and found the total number of rare variants per gene for each individual. We then analyzed these collapsed variants based on the assumption that rare variants are enriched in a group of people affected by a disease compared to a group of unaffected people. We also tested the hypothesis with quantitative traits Q1, Q2, and Q4. Analyses performed on the combined 697 individuals and on each ethnic group yielded different results. For the combined population analysis, we found that UGT1A1, which was not part of the simulation model, was associated with disease liability and that FLT1, which was a causal locus in the simulation model, was associated with Q1. Of the causal loci in the simulation models, FLT1 and KDR were associated with Q1 and VNN1 was correlated with Q2. No significant genes were associated with Q4. These results show the feasibility and capability of our new statistical model to detect multiple rare variants influencing disease risk

Association Between Multiparametric Magnetic Resonance Imaging of the Prostate and Oncological Outcomes after Primary Treatment for Prostate Cancer: A Systematic Review and Meta-analysis

CONTEXT: The diagnostic accuracy of multiparametric magnetic resonance imaging (mpMRI) for prostate cancer (PCa) diagnosis has been extensively explored. Little is known about the prognostic value of mpMRI suspicion scores and other quantitative mpMRI information. OBJECTIVE: To systematically review the current literature assessing the relationship between pretreatment mpMRI and oncological outcomes after primary treatment for PCa to assess the role of mpMRI as a prognostic tool. EVIDENCE ACQUISITION: A computerized bibliographic search of MEDLINE/PubMed, EMBASE, Scopus, and the Cochrane Library CENTRAL databases was performed for all studies assessing the relationship between mpMRI and oncological outcomes after primary treatment for PCa. The review protocol is registered in the PROSPERO database (CRD42020209899). EVIDENCE SYNTHESIS: A total of six studies were included. Reliable evidence is still limited in this field. The Prostate Imaging-Reporting and Data System (PI-RADS) score was an independent predictor of biochemical recurrence (BCR) after radical prostatectomy (RP) in the majority of the studies included. The tumor volume at mpMRI was not significantly associated with BCR after RP for PCa. Data on disease progression and PCa-specific mortality are limited. Heterogeneity among the studies was substantial. CONCLUSIONS: The review shows that PI-RADS scores provide information on the future likelihood of cancer recurrence or progression, at least for men undergoing RP. We are of the view that this information should be taken into account to identify men at higher risk of unfavorable outcomes. PATIENT SUMMARY: A higher Prostate Imaging-Reporting and Data System score for magnetic resonance imaging of the prostate seems to be positively associated with oncological failure in prostate cancer and should be incorporated into future risk models

Use of infrared thermography (IRT) in equine assisted interventions: physiological aspects

Infrared imaging thermography (IRT) is a technique widely used in wildlife studies and the assessment of animal welfare is among its fields of application. The heat emitted from superficial capillaries changes as blood flow is under control of the autonomic nervous system. For this reason, cutaneous temperature on selected areas can be considered as a good indicator of the health status and welfare of a particular individual. These changes in heat emitted can be quantified using IRT. The system consists of an infrared camera FLIR A65 (640 512 pixel, uncooled microbolometer detector, thermal sensitivity 0.05 \ub0C) with a 7\ub0 and 13\ub0 angle of view germanium tele lenses and a dedicated laptop. In the case of chimpanzees\u2019 studies, most of the available data derive from subjects kept in small enclosures, with little ecological validity. The aim of this research was to develop an infrared method allowing the acquisition of thermographic videos and images of animals at long distance. The system was tested on a group of eleven chimpanzees, in semi-natural conditions, housed at Parco Natura Viva in Bussolengo (Verona). The study ran between April and December 2016. Images and videos were shot at distance greater than 10 meters, during the everyday chimpanzees\u2019 life. The accuracy and repeatability of measurements was that typically reserved to the image acquisition with closer subjects at indoor conditions. Through this system it was possible to detect temperature variations in face layers by distinguishing the facial features of the subject. Thus, despite the distance from the animals, thanks to the good resolution of the system, the cutaneous temperatures were detected. In conclusion, IRT could be able to non-invasively detect different autonomic responses of the chimpanzees to different situations, suggesting that this system could be a valuable tool to study the chimpanzee\u2019s behavior and welfare at long distance

Rotaxane Co-II Complexes as Field-Induced Single-Ion Magnets

Mechanically chelating ligands have untapped potential for the engineering of metal ion properties. Here we demonstrate this principle in the context of CoII-based single-ion magnets. Using multi-frequency EPR, susceptibility and magnetization measurements we found that these complexes show some of the highest zero field splittings reported for five-coordinate CoII complexes to date. The predictable coordination behaviour of the interlocked ligands allowed the magnetic properties of their CoII complexes to be evaluated computationally a priori and our combined experimental and theoretical approach enabled us to rationalize the observed trends. The predictable magnetic behaviour of the rotaxane CoII complexes demonstrates that interlocked ligands offer a new strategy to design metal complexes with interesting functionality

Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms.

Because of the high costs associated with ascertainment of families, most linkage studies of Bipolar I disorder (BPI) have used relatively small samples. Moreover, the genetic information content reported in most studies has been less than 0.6. Although microsatellite markers spaced every 10 cM typically extract most of the genetic information content for larger multiplex families, they can be less informative for smaller pedigrees especially for affected sib pair kindreds. For these reasons we collaborated to pool family resources and carried out higher density genotyping. Approximately 1100 pedigrees of European ancestry were initially selected for study and were genotyped by the Center for Inherited Disease Research using the Illumina Linkage Panel 12 set of 6090 single-nucleotide polymorphisms. Of the ~1100 families, 972 were informative for further analyses, and mean information content was 0.86 after pruning for linkage disequilibrium. The 972 kindreds include 2284 cases of BPI disorder, 498 individuals with bipolar II disorder (BPII) and 702 subjects with recurrent major depression. Three affection status models (ASMs) were considered: ASM1 (BPI and schizoaffective disorder, BP cases (SABP) only), ASM2 (ASM1 cases plus BPII) and ASM3 (ASM2 cases plus recurrent major depression). Both parametric and non-parametric linkage methods were carried out. The strongest findings occurred at 6q21 (non-parametric pairs LOD 3.4 for rs1046943 at 119 cM) and 9q21 (non-parametric pairs logarithm of odds (LOD) 3.4 for rs722642 at 78 cM) using only BPI and schizoaffective (SA), BP cases. Both results met genome-wide significant criteria, although neither was significant after correction for multiple analyses. We also inspected parametric scores for the larger multiplex families to identify possible rare susceptibility loci. In this analysis, we observed 59 parametric LODs of 2 or greater, many of which are likely to be close to maximum possible scores. Although some linkage findings may be false positives, the results could help prioritize the search for rare variants using whole exome or genome sequencing

Neurotrophic gene polymorphisms and response to psychological therapy

Therapygenetics, the study of genetic determinants of response to psychological therapies, is in its infancy. Here, we investigate whether single-nucleotide polymorphisms in nerve growth factor (NGF) (rs6330) and brain-derived neutrotrophic factor (BDNF) (rs6265) genes predict the response to cognitive behaviour therapy (CBT). Neurotrophic genes represent plausible candidate genes: they are implicated in synaptic plasticity, response to stress, and are widely expressed in brain areas involved in mood and cognition. Allelic variation at both loci has shown associations with anxiety-related phenotypes. A sample of 374 anxiety-disordered children with white European ancestry was recruited from clinics in Reading, UK, and in Sydney, Australia. Participants received manualised CBT treatment and DNA was collected from buccal cells using cheek swabs. Treatment response was assessed at post-treatment and follow-up time points. We report first evidence that children with one or more copies of the T allele of NGF rs6330 were significantly more likely to be free of their primary anxiety diagnosis at follow-up (OR=0.60 (0.42–0.85), P=0.005). These effects remained even when other clinically relevant covariates were accounted for (OR=0.62 (0.41–0.92), P=0.019). No significant associations were observed between BDNF rs6265 and response to psychological therapy. These findings demonstrate that knowledge of genetic markers has the potential to inform clinical treatment decisions for psychotherapeutic interventions