Genetics of self-reported risk-taking behaviour, trans-ethnic consistency and relevance to brain gene expression

Risk-taking behaviour is an important component of several psychiatric disorders, including attention-deficit hyperactivity disorder, schizophrenia and bipolar disorder. Previously, two genetic loci have been associated with self-reported risk taking and significant genetic overlap with psychiatric disorders was identified within a subsample of UK Biobank. Using the white British participants of the full UK Biobank cohort (n = 83,677 risk takers versus 244,662 controls) for our primary analysis, we conducted a genome-wide association study of self-reported risk-taking behaviour. In secondary analyses, we assessed sex-specific effects, trans-ethnic heterogeneity and genetic overlap with psychiatric traits. We also investigated the impact of risk-taking-associated SNPs on both gene expression and structural brain imaging. We identified 10 independent loci for risk-taking behaviour, of which eight were novel and two replicated previous findings. In addition, we found two further sex-specific risk-taking loci. There were strong positive genetic correlations between risk-taking and attention-deficit hyperactivity disorder, bipolar disorder and schizophrenia. Index genetic variants demonstrated effects generally consistent with the discovery analysis in individuals of non-British White, South Asian, African-Caribbean or mixed ethnicity. Polygenic risk scores comprising alleles associated with increased risk taking were associated with lower white matter integrity. Genotype-specific expression pattern analyses highlighted DPYSL5, CGREF1 and C15orf59 as plausible candidate genes. Overall, our findings substantially advance our understanding of the biology of risk-taking behaviour, including the possibility of sex-specific contributions, and reveal consistency across ethnicities. We further highlight several putative novel candidate genes, which may mediate these genetic effects

Recreational and occupational field exposure to freshwater cyanobacteria – a review of anecdotal and case reports, epidemiological studies and the challenges for epidemiologic assessment

Cyanobacteria are common inhabitants of freshwater lakes and reservoirs throughout the world. Under favourable conditions, certain cyanobacteria can dominate the phytoplankton within a waterbody and form nuisance blooms. Case reports and anecdotal references dating from 1949 describe a range of illnesses associated with recreational exposure to cyanobacteria: hay fever-like symptoms, pruritic skin rashes and gastro-intestinal symptoms are most frequently reported. Some papers give convincing descriptions of allergic reactions while others describe more serious acute illnesses, with symptoms such as severe headache, pneumonia, fever, myalgia, vertigo and blistering in the mouth. A coroner in the United States found that a teenage boy died as a result of accidentally ingesting a neurotoxic cyanotoxin from a golf course pond. This death is the first recorded human fatality attributed to recreational exposure to cyanobacteria, although uncertainties surround the forensic identification of the suspected cyanotoxin in this case. We systematically reviewed the literature on recreational exposure to freshwater cyanobacteria. Epidemiological data are limited, with six studies conducted since 1990. Statistically significant increases in symptoms were reported in individuals exposed to cyanobacteria compared to unexposed counterparts in two Australian cohort studies, though minor morbidity appeared to be the main finding. The four other small studies (three from the UK, one Australian) did not report any significant association. However, the potential for serious injury or death remains, as freshwater cyanobacteria under bloom conditions are capable of producing potent toxins that cause specific and severe dysfunction to hepatic or central nervous systems. The exposure route for these toxins is oral, from ingestion of recreational water, and possibly by inhalation. A range of freshwater microbial agents may cause acute conditions that present with features that resemble illnesses attributed to contact with cyanobacteria and, conversely, acute illness resulting from exposure to cyanobacteria or cyanotoxins in recreational waters could be misdiagnosed. Accurately assessing exposure to cyanobacteria in recreational waters is difficult and unreliable at present, as specific biomarkers are unavailable. However, diagnosis of cyanobacteria-related illness should be considered for individuals presenting with acute illness following freshwater contact if a description is given of a waterbody visibly affected by planktonic mass development

Paracoccidioidomicose pulmonar: aspectos na tomografia computadorizada de alta resolução High-resolution computed tomography findings in pulmonary paracoccidioidomycosis

O comprometimento pulmonar na paracoccidioidomicose é muito freqüente, podendo até ser a única manifestação da doença. Neste trabalho são analisados os aspectos encontrados nas tomografias computadorizadas de alta resolução do tórax de 30 pacientes com paracoccidioidomicose confirmada. Por meio desta análise foram determinados os achados mais comuns e suas formas de apresentação e distribuição nos pulmões. Os aspectos mais freqüentemente observados foram: espessamento esparso de septos interlobulares (96,7%), opacidades em vidro fosco (66,7%), nódulos (60%), aumento irregular do espaço aéreo (enfisema paracicatricial) (56,7%), espessamento de paredes brônquicas (46,7%), espessamento pleural (36,7%), cavidades (36,7%), dilatação da traquéia (33,3%), distorção arquitetural (30%), consolidação do espaço aéreo (30%), bandas parenquimatosas (23,3%), reticulado intralobular (13,3%) e espessamento irregular do interstício axial peri-hilar (10%). A radiografia do tórax apresenta limitada capacidade de avaliar doenças pulmonares difusas, tornando a tomografia computadorizada de alta resolução do tórax essencial para avaliação dos pacientes com paracoccidioidomicose pulmonar.<br>Pulmonary disease in paracoccidioidomycosis is very common and in some cases can be the sole manifestation of the disease. We studied the findings observed in 30 patients with pulmonary paracoccidioidomycosis submitted to high-resolution computed tomography in order to determine the most frequent findings, presentation patterns and distribution of paracoccidioidomycosis lesions in the lungs. The most frequent findings observed on high-resolution computed tomography were: interlobular septal thickening (96.7%), ground-glass opacities (66.7%), nodules (60%), irregular air-space enlargement (56.7%), bronchial wall thickening (46.7%), pleural thickening (36.7%), cavitation (36.7%), tracheal dilatation (33.3%), architectural distortion (30%), air-space consolidation (30%), parenchymal bands (23.3%), intralobular reticulate (13.3%) and hilar interstitial thickening (10%). Chest X-rays allow limited evaluation of diffuse pulmonary diseases, and hence high-resolution computed tomography is an essential method for studying patients with pulmonary paracoccidioidomycosis

Green propolis phenolic compounds act as vaccine adjuvants, improving humoral and cellular responses in mice inoculated with inactivated vaccines

Adjuvants play an important role in vaccine formulations by increasing their immunogenicity. In this study, the phenolic compound-rich J fraction (JFR) of a Brazilian green propolis methanolic extract stimulated cellular and humoral immune responses when co-administered with an inactivated vaccine against swine herpesvirus type 1 (SuHV-1). When compared to control vaccines that used aluminium hydroxide as an adjuvant, the use of 10 mg/dose of JFR significantly increased (p < 0.05) neutralizing antibody titres against SuHV-1, as well as the percentage of protected animals following SuHV-1 challenge (p < 0.01). Furthermore, addition of phenolic compounds potentiated the performance of the control vaccine, leading to increased cellular and humoral immune responses and enhanced protection of animals after SuHV-1 challenge (p < 0.05). Prenylated compounds such as Artepillin C that are found in large quantities in JFR are likely to be the substances that are responsible for the adjuvant activity