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Arising from the 2019 Darwin College Lectures, this book presents essays from seven prominent public intellectuals on the theme of vision. Each author examines this theme through the lens of their own particular area of expertise, making for a lively interdisciplinary volume including chapters on neuroscience, colour perception, biological evolution, astronomy, the future of technology, computer vision, and the visionary core of science. Featuring contributions by professors of neuroscience Paul Fletcher and Anya Hurlbert, professor of zoology Dan-Eric Nilsson, the futurist Sophie Hackford, Microsoft distinguished scientist Andrew Blake, theoretical physicist and author Carlo Rovelli, and Dr Carolin Crawford, the Public Astronomer at the University of Cambridge, this volume will be of interest to anybody curious about how we see the world.
Studying phenotypic and genetic characteristics of age at onset (AAO) and polarity at onset (PAO) in bipolar disorder can provide new insights into disease pathology and facilitate the development of screening tools.
To examine the genetic architecture of AAO and PAO and their association with bipolar disorder disease characteristics.
Genome-wide association studies (GWASs) and polygenic score (PGS) analyses of AAO (n = 12 977) and PAO (n = 6773) were conducted in patients with bipolar disorder from 34 cohorts and a replication sample (n = 2237). The association of onset with disease characteristics was investigated in two of these cohorts.
Earlier AAO was associated with a higher probability of psychotic symptoms, suicidality, lower educational attainment, not living together and fewer episodes. Depressive onset correlated with suicidality and manic onset correlated with delusions and manic episodes. Systematic differences in AAO between cohorts and continents of origin were observed. This was also reflected in single-nucleotide variant-based heritability estimates, with higher heritabilities for stricter onset definitions. Increased PGS for autism spectrum disorder (β = −0.34 years, s.e. = 0.08), major depression (β = −0.34 years, s.e. = 0.08), schizophrenia (β = −0.39 years, s.e. = 0.08), and educational attainment (β = −0.31 years, s.e. = 0.08) were associated with an earlier AAO. The AAO GWAS identified one significant locus, but this finding did not replicate. Neither GWAS nor PGS analyses yielded significant associations with PAO.
AAO and PAO are associated with indicators of bipolar disorder severity. Individuals with an earlier onset show an increased polygenic liability for a broad spectrum of psychiatric traits. Systematic differences in AAO across cohorts, continents and phenotype definitions introduce significant heterogeneity, affecting analyses.
Ageing Europeans are today healthier than previous generations and often manage to live independently up to a high age. The proportion of people 80 years of age and older has increased significantly, and with high age the risk of multi-illness and dementia increases. Strong urbanisation processes have changed the demographic structure in rural areas, and young women and men have migrated towards the urban areas to study and work, while older persons have remained behind. This demographic challenge of increasing numbers of persons older than 80 years with care needs living in remote rural areas has become a major European social problem. In tackling this dilemma, many European countries have high expectations for eHealth, digitalisation and welfare technology. In this comparative study of policy debates in Italy, Finland and Sweden, we analyse how – between 2009 and 2019 – the issues of eHealth have been articulated in national and regional policies of the three countries with deep differences in terms of digitalisation and health systems, but with similar ageing populations. We identify in the documents three core topics – the role of technology, the rural issue and responsibility for care. These topics are treated in the documents with differences and similarities between the three countries. Beyond the differences and similarities, the documents reveal both a certain techno-enthusiasm about the role of eHealth in the life of the older adults as well as a limited understanding of the complexity (relationally as well as spatially) of the digital landscape of caring for older adults.
ABSTRACT IMPACT: The implementation of nasal nitric oxide (nNO) as a diagnostic tool to understand the phenotypic/genotypic profiles of Primary Ciliary Dyskinesia (PCD) in Puerto Rico (PR) will be translated in early disease diagnosis, avoidance of comorbidities, and increase survival in our population. OBJECTIVES/GOALS: This study aims to evaluate the role of nNO levels in PCD diagnosis in the Puerto Rican population. Also, we aim to describe the clinical, genetic, and physiological characteristics of PCD in Puerto Ricans to develop a better understanding of the disease. METHODS/STUDY POPULATION: We plan to conduct a cross-sectional study on participants recruited from patients of the Pediatric Rare Lung and Asthma Institute in PR. We will compare nNO levels among genetically confirmed PCD patients, suspected PCD patients with variant of unknown significance (VUS) mutations, suspected PCD patients without genetic mutations, and age-matched healthy subjects. We plan to analyze clinical data and genetic variants to understand the natural history of the disease. The nNO measurements will be completed following previous published protocols. We will also assess the accuracy of the nNO measurements by repeating the measurements two weeks after the initial measurement. RESULTS/ANTICIPATED RESULTS: We hypothesize that many of the VUS present in our population may represent potential new founder mutations not previously reported in the literature. Our expectation is to identify new atypical PCD phenotypes contemplating the heterogenous genetic Puerto Rican pool. We anticipate that nNO levels will help to screen, identify, and confirm diagnosis of patients with clinical PCD in PR. Our findings will be translated in avoidance of further comorbidities and mortality due to earlier disease PCD diagnosis and will expand our genetic understanding about PCD in PR and other diverse populations with heterogenous genetic admixture. DISCUSSION/SIGNIFICANCE OF FINDINGS: We present a significant and novel research proposal that plan to impact the quality of life of patients living with PCD in PR. The implementation of state-of-the-art diagnostic tools like nNO measurement will positively impact and expand our current capabilities to diagnose rare lung diseases like PCD on the island.
Social inequality is ubiquitous in contemporary human societies, and has deleterious social and ecological impacts. However, the factors that shape the emergence and maintenance of inequality remain widely debated. Here we conduct a global analysis of pathways to inequality by comparing 408 non-industrial societies in the anthropological record (described largely between 1860 and 1960) that vary in degree of inequality. We apply structural equation modelling to open-access environmental and ethnographic data and explore two alternative models varying in the links among factors proposed by prior literature, including environmental conditions, resource intensification, wealth transmission, population size and a well-documented form of inequality: social class hierarchies. We found support for a model in which the probability of social class hierarchies is associated directly with increases in population size, the propensity to use intensive agriculture and domesticated large mammals, unigeniture inheritance of real property and hereditary political succession. We suggest that influence of environmental variables on inequality is mediated by measures of resource intensification, which, in turn, may influence inequality directly or indirectly via effects on wealth transmission variables. Overall, we conclude that in our analysis a complex network of effects are associated with social class hierarchies.
At present, analysis of diet and bladder cancer (BC) is mostly based on the intake of individual foods. The examination of food combinations provides a scope to deal with the complexity and unpredictability of the diet and aims to overcome the limitations of the study of nutrients and foods in isolation. This article aims to demonstrate the usability of supervised data mining methods to extract the food groups related to BC. In order to derive key food groups associated with BC risk, we applied the data mining technique C5.0 with 10-fold cross-validation in the BLadder cancer Epidemiology and Nutritional Determinants study, including data from eighteen case–control and one nested case–cohort study, compromising 8320 BC cases out of 31 551 participants. Dietary data, on the eleven main food groups of the Eurocode 2 Core classification codebook, and relevant non-diet data (i.e. sex, age and smoking status) were available. Primarily, five key food groups were extracted; in order of importance, beverages (non-milk); grains and grain products; vegetables and vegetable products; fats, oils and their products; meats and meat products were associated with BC risk. Since these food groups are corresponded with previously proposed BC-related dietary factors, data mining seems to be a promising technique in the field of nutritional epidemiology and deserves further examination.
This study describes service utilisation under routine clinical activity and the costs of providing mental health care for 24 months for the whole population of 330 subjects who had first contact with the Magenta Community Mental Health Centre during one year. The mean age of patients was 42.5 years, and 61% were females. According to ICD 10 criteria, 7% were diagnosed as having schizophrenia, 22% mood disorders, 37% neurotic disorders, 15% personality disorders and 19% other diagnoses. The clinical routine activity was monitored for 24 months from the first contact for each patient. The mean cost for a schizophrenic patient is more than double that of other patients. In-patient activity and community services accounted, respectively, for 49.7% and 50.3% of the total costs. Total health care costs per patient differ widely according to whether patients had been hospitalised during the observation period. Patients with a previous psychiatric contact and a longer duration of illness were more costly than the other patients. Multiple regression analysis was used to assess the association between all the individual variables and costs. For the whole population, the model explains 50% of the cost variation. Higher treatment costs were positively associated with the presence of previous psychiatric contacts and referral to the CPS by other sources than a general practitioner, and negatively associated with age.
Genetic risk is defined as the probability of a person (or couple) conceiving a pregnancy with genetic mutations or chromosomal abnormalities that would lead to a severe pathological condition. Genetic mutations are concealed in the genome of almost every person. Most of these mutations are harmless in single copy, but if present in homozygosis, they can lead to severe clinical outcomes. Often, couples carrying unidentified genetic mutations become aware of their dangerous mutations only after conception of an affected child.
Recent studies of subaerial volcano carbon flux have challenged previous assumptions about carbon recycling in the mantle and the ratio of ingassing to outgassing. This chapter reviews the current state of knowledge of the flux of carbon from subaerial volcanoes at subduction zones and intraplate locations, as well as through diffuse degassing away from volcanic vents. It also reviews the importance of crustal carbonate assimilation and carbonate platforms on these fluxes. The chapter presents an overview of how these fluxes are estimated – including descriptions of new technologies and recent field campaigns – and the timescales of flux measurements. It also summarizes what is currently known about the flux of carbon versus other volatile elements in these various settings. Supplemental online material is available for this chapter at www.cambridge.org/9781108477499#resources.
Positive symptoms are a useful predictor of aggression in schizophrenia. Although a similar pattern of abnormal brain structures related to both positive symptoms and aggression has been reported, this observation has not yet been confirmed in a single sample.
To study the association between positive symptoms and aggression in schizophrenia on a neurobiological level, a prospective meta-analytic approach was employed to analyze harmonized structural neuroimaging data from 10 research centers worldwide. We analyzed brain MRI scans from 902 individuals with a primary diagnosis of schizophrenia and 952 healthy controls.
The result identified a widespread cortical thickness reduction in schizophrenia compared to their controls. Two separate meta-regression analyses revealed that a common pattern of reduced cortical gray matter thickness within the left lateral temporal lobe and right midcingulate cortex was significantly associated with both positive symptoms and aggression.
These findings suggested that positive symptoms such as formal thought disorder and auditory misperception, combined with cognitive impairments reflecting difficulties in deploying an adaptive control toward perceived threats, could escalate the likelihood of aggression in schizophrenia.