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Mortality risk is known to be associated with many physiological or biochemical risk factors, and polygenic risk scores (PRSs) may offer an additional or alternative approach to risk stratification. We have compared the predictive value of common biochemical tests, PRSs and information on parental survival in a cohort of twins and their families. Common biochemical test results were available for up to 13,365 apparently healthy men and women, aged 17−93 years (mean 49.0, standard deviation [SD] 13.7) at blood collection. PRSs for longevity were available for 14,169 study participants and reported parental survival for 25,784 participants. A search for information on date and cause of death was conducted through the Australian National Death Index, with median follow-up of 11.3 years. Cox regression was used to evaluate associations with mortality from all causes, cancers, cardiovascular diseases and other causes. Linear relationships with all-cause mortality were strongest for C-reactive protein, gamma-glutamyl transferase, glucose and alkaline phosphatase, with hazard ratios (HRs) of 1.16 (95% CI [1.07, 1.24]), 1.15 (95% CI 1.04–1.21), 1.13 (95% CI [1.08, 1.19]) and 1.11 (95% CI [1.05, 1.88]) per SD difference, respectively. Significant nonlinear effects were found for urea, uric acid and butyrylcholinesterase. Lipid risk factors were not statistically significant for mortality in our cohort. Family history and PRS showed weaker but significant associations with survival, with HR in the range 1.05 to 1.09 per SD difference. In conclusion, biochemical tests currently predict long-term mortality more strongly than genetic scores based on genotyping or on reported parental survival.
Antarctica's ice shelves modulate the grounded ice flow, and weakening of ice shelves due to climate forcing will decrease their ‘buttressing’ effect, causing a response in the grounded ice. While the processes governing ice-shelf weakening are complex, uncertainties in the response of the grounded ice sheet are also difficult to assess. The Antarctic BUttressing Model Intercomparison Project (ABUMIP) compares ice-sheet model responses to decrease in buttressing by investigating the ‘end-member’ scenario of total and sustained loss of ice shelves. Although unrealistic, this scenario enables gauging the sensitivity of an ensemble of 15 ice-sheet models to a total loss of buttressing, hence exhibiting the full potential of marine ice-sheet instability. All models predict that this scenario leads to multi-metre (1–12 m) sea-level rise over 500 years from present day. West Antarctic ice sheet collapse alone leads to a 1.91–5.08 m sea-level rise due to the marine ice-sheet instability. Mass loss rates are a strong function of the sliding/friction law, with plastic laws cause a further destabilization of the Aurora and Wilkes Subglacial Basins, East Antarctica. Improvements to marine ice-sheet models have greatly reduced variability between modelled ice-sheet responses to extreme ice-shelf loss, e.g. compared to the SeaRISE assessments.
Compulsory admission procedures of patients with mental disorders vary between countries in Europe. The Ethics Committee of the European Psychiatric Association (EPA) launched a survey on involuntary admission procedures of patients with mental disorders in 40 countries to gather information from all National Psychiatric Associations that are members of the EPA to develop recommendations for improving involuntary admission processes and promote voluntary care.
The survey focused on legislation of involuntary admissions and key actors involved in the admission procedure as well as most common reasons for involuntary admissions.
We analyzed the survey categorical data in themes, which highlight that both medical and legal actors are involved in involuntary admission procedures.
We conclude that legal reasons for compulsory admission should be reworded in order to remove stigmatization of the patient, that raising awareness about involuntary admission procedures and patient rights with both patients and family advocacy groups is paramount, that communication about procedures should be widely available in lay-language for the general population, and that training sessions and guidance should be available for legal and medical practitioners. Finally, people working in the field need to be constantly aware about the ethical challenges surrounding compulsory admissions.
To describe the pattern of transmission of SARS-CoV-2 during 2 nosocomial outbreaks of COVID-19 with regard to the possibility of airborne transmission.
Contact investigations with active case finding were used to assess the pattern of spread from 2 COVID-19 index patients.
A community hospital and university medical center in the United States, in February and March, 2020, early in the COVID-19 pandemic.
Two index patients and 421 exposed health care workers.
Exposed staff were identified by analyzing the EMR and conducting active case finding in combination with structured interviews. Staff were tested for COVID-19 by obtaining oropharyngeal/nasopharyngeal specimens, with RT-PCR testing to detect SARS-CoV-2.
Two separate index patients were admitted in February and March 2020, without initial suspicion for COVID-19 and without contact or droplet precautions in place; both patients underwent several aerosol generating procedures in this context. A total of 421 health care workers were exposed in total, and the results of the case contact investigations identified 8 secondary infections in health care workers. In all 8 cases, the staff had close contact with the index patients without sufficient personal protective equipment. Importantly, despite multiple aerosol generating procedures, there was no evidence of airborne transmission.
These observations suggest that, at least in a healthcare setting, a majority of SARS-CoV-2 transmission is likely to take place during close contact with infected patients through respiratory droplets, rather than by long-distance airborne transmission.
This study presents two years of characterization of a warm temperate rhodolith bed in order to analyse how certain environmental changes influence the community ecology. The biomass of rhodoliths and associated species were analysed during this period and in situ experiments were conducted to evaluate the primary production, calcification and respiration of the dominant species of rhodoliths and epiphytes. The highest total biomass of rhodoliths occurred during austral winter. Lithothamnion crispatum was the most abundant rhodolith species in austral summer. Epiphytic macroalgae occurred only in January 2015, with Padina gymnospora being the most abundant. Considering associated fauna, the biomass of Mollusca increased from February 2015 to February 2016. Population densities of key reef fish species inside and around the rhodolith beds showed significant variations in time. The densities of grouper (carnivores/piscivores) increased in time, especially from 2015 to 2016. On the other hand, grunts (macroinvertebrate feeders) had a modest decrease over time (from 2014 to 2016). Other parameters such as primary production and calcification of L. crispatum were higher under enhanced irradiance, yet decreased in the presence of P. gymnospora. Community structure and physiological responses can be explained by the interaction of abiotic and biotic factors, which are driven by environmental changes over time. Biomass changes can indicate that herbivores play a role in limiting the growth of epiphytes, and this is beneficial to the rhodoliths because it decreases competition for environmental resources with fleshy algae.
Body dysmorphic disorder (B.D.D.) consists of a preoccupation with an imagined or slight physical defect. This study is the first European report on prevalence and several clinical and functional characteristics of patients with B.D.D. in a cosmetic surgery setting. Comparisons with defect- and severity-matched subjects without B.D.D. were also performed.
For the last years, there has been a wordlwide increase in the interest of oriental culture, specifically in the practice of meditation. This technic is known to produce cognitive and sensorial perception alterations, with changes in the hormonal and autonomic system. This practice has been associated with different mental disorders such as neurotic manifestations, dissociative and regressive, and even psychotic symptoms.
To analyze the influence of an intensive practice of different styles of meditation in the psychopathology found in our patients (Hospital Clínico San Carlos, Madrid). To study the changes produced in the Central Nervous System measured by Electroencephalogram, PET, and functional MRI.
To define the clinical characteristics, prognois, risk factors and biological changes of an “atypical” psycopathologic case which seems to be more frequent everyday.
Extensive bibliographic review focused in psychopathology related to different types of meditation, either auto or hetero-induced (exorcism). We analyzed the patients attended in our hospital with psychotic semiology after having practiced intensive types of meditacion (transcendental meditation, buddhist meditation, tai-chi, qi-gong, tiao-shen, etc).
We found serious psychotic and affective symptomatology produced after using these technics. It is important to point out the risk factors and traumatic experiences characteristic of these processes.
There is clinical and epidemiological evidence that a group of psychosis, with different symptomatology and prognosis than schizophrenia and affective disorders, exists. We describe a syndrome of sudden manifestation, with flourished symptoms and serious behavior alterations, etc.
Elderly institutionalization involves an emotional adaptation and the research shows that the risk of depression increases.
Evaluate the impact of a neuropsychological group rehabilitation program (NGRP) on depressive symptomatology of institutionalized elderly.
NGRP influences the decrease of depressive symptoms.
Elderly were assessed pre- and post-intervention with the Geriatric Depression Scale (GDS) and divided into a Rehabilitated Group (RG), a Waiting List Group (WLG), and a Neutral Task Group (NTG).
In this randomized study, before rehabilitation, 60 elderly people (RG; 80.31 ± 8.98 years of age; 74.2% women) had a mean GDS score of 13.33 (SD = 9.21). Five elderly included in the NTG (80.13 ± 10.84 years; 75.0% women) had a mean GDS score of 10.60 (SD = 4.72). Finally, 29 elderly in the WLG (81.32 ± 6.68 years; 69.0% women) had a mean GDS score of 14.93 (SD = 6.02). The groups were not different in GDS baseline scores (F = 0.74; P = 0.478). ANCOVA has shown significant differences (P < 0.05) in GDS scores between the three groups after 10 weeks. Sidak adjustment for multiple comparisons revealed that elderly in the WLG got worse scores in GDS, comparing with elderly in RG (P < 0.01), and with elderly in NTG (P < 0.05).
Elderly that are not involved in a task get worse in depressive symptomatology. Being involved in a structured group task means lower depressive symptoms and being in a NGRP means even greater results.
Disclosure of interest
The authors have not supplied their declaration of competing interest.
Pathological gambling is a behavioural addiction with negative economic, social, and psychological consequences. Identification of contributing genes and pathways may improve understanding of aetiology and facilitate therapy and prevention. Here, we report the first genome-wide association study of pathological gambling. Our aims were to identify pathways involved in pathological gambling, and examine whether there is a genetic overlap between pathological gambling and alcohol dependence.
Four hundred and forty-five individuals with a diagnosis of pathological gambling according to the Diagnostic and Statistical Manual of Mental Disorders were recruited in Germany, and 986 controls were drawn from a German general population sample. A genome-wide association study of pathological gambling comprising single marker, gene-based, and pathway analyses, was performed. Polygenic risk scores were generated using data from a German genome-wide association study of alcohol dependence.
No genome-wide significant association with pathological gambling was found for single markers or genes. Pathways for Huntington's disease (P-value = 6.63 × 10−3); 5′-adenosine monophosphate-activated protein kinase signalling (P-value = 9.57 × 10−3); and apoptosis (P-value = 1.75 × 10−2) were significant. Polygenic risk score analysis of the alcohol dependence dataset yielded a one-sided nominal significant P-value in subjects with pathological gambling, irrespective of comorbid alcohol dependence status.
The present results accord with previous quantitative formal genetic studies which showed genetic overlap between non-substance- and substance-related addictions. Furthermore, pathway analysis suggests shared pathology between Huntington's disease and pathological gambling. This finding is consistent with previous imaging studies.
Depression occurs frequently in primary care. Its broad clinical variability makes it difficult to diagnose. This makes it essential that family practitioner (FP) researchers have validated tools to minimize bias in studies of everyday practice. Which tools validated against psychiatric examination, according to the major depression criteria of DSM-IV or 5, can be used for research purposes?
An international FP team conducted a systematic review using the following databases: Pubmed, Cochrane and Embase, from 2000/01/01 to 2015/10/01.
The three databases search identified 770 abstracts: 546 abstracts were analyzed after duplicates had been removed (224 duplicates); 50 of the validity studies were eligible and 4 studies were included. In 4 studies, the following tools were found: GDS-5, GDS-15, GDS-30, CESD-R, HADS, PSC-51 and HSCL-25. Sensitivity, Specificity, Positive Predictive Value, Negative Predictive Value were collected. The Youden index was calculated.
Using efficiency data alone to compare these studies could be misleading. Additional reliability, reproducibility and ergonomic data will be essential for making comparisons.
This study selected seven tools, usable in primary care research, for the diagnosis of depression. In order to define the best tools in terms of efficiency, reproducibility, reliability and ergonomics for research in primary care, and for care itself, further research will be essential.
B vitamins involved in one-carbon metabolism have been implicated in the development of inflammation- and angiogenesis-related chronic diseases, such as colorectal cancer (CRC). Yet, the role of one-carbon metabolism in inflammation and angiogenesis among CRC patients remains unclear. The objective of this study was to investigate associations of components of one-carbon metabolism with inflammation and angiogenesis biomarkers among newly diagnosed CRC patients (n 238) in the prospective ColoCare Study, Heidelberg. We cross-sectionally analysed associations between twelve B vitamins and one-carbon metabolites and ten inflammation and angiogenesis biomarkers from pre-surgery serum samples using multivariable linear regression models. We further explored associations among novel biomarkers in these pathways with Spearman partial correlation analyses. We hypothesised that pyridoxal-5’-phosphate (PLP) is inversely associated with inflammatory biomarkers. We observed that PLP was inversely associated with C-reactive protein (CRP) (r –0·33, Plinear < 0·0001), serum amyloid A (SAA) (r –0·23, Plinear = 0·003), IL-6 (r –0·39, Plinear < 0·0001), IL-8 (r –0·20, Plinear = 0·02) and TNFα (r –0·12, Plinear = 0·045). Similar findings were observed for 5-methyl-tetrahydrofolate and CRP (r –0·14), SAA (r –0·14) and TNFα (r –0·15) among CRC patients. Folate catabolite acetyl-para-aminobenzoylglutamic acid (pABG) was positively correlated with IL-6 (r 0·27, Plinear < 0·0001), and pABG was positively correlated with IL-8 (r 0·21, Plinear < 0·0001), indicating higher folate utilisation during inflammation. Our data support the hypothesis of inverse associations between PLP and inflammatory biomarkers among CRC patients. A better understanding of the role and inter-relation of PLP and other one-carbon metabolites with inflammatory processes among colorectal carcinogenesis and prognosis could identify targets for future dietary guidance for CRC patients.
Studies suggest that alcohol consumption and alcohol use disorders have distinct genetic backgrounds.
We examined whether polygenic risk scores (PRS) for consumption and problem subscales of the Alcohol Use Disorders Identification Test (AUDIT-C, AUDIT-P) in the UK Biobank (UKB; N = 121 630) correlate with alcohol outcomes in four independent samples: an ascertained cohort, the Collaborative Study on the Genetics of Alcoholism (COGA; N = 6850), and population-based cohorts: Avon Longitudinal Study of Parents and Children (ALSPAC; N = 5911), Generation Scotland (GS; N = 17 461), and an independent subset of UKB (N = 245 947). Regression models and survival analyses tested whether the PRS were associated with the alcohol-related outcomes.
In COGA, AUDIT-P PRS was associated with alcohol dependence, AUD symptom count, maximum drinks (R2 = 0.47–0.68%, p = 2.0 × 10−8–1.0 × 10−10), and increased likelihood of onset of alcohol dependence (hazard ratio = 1.15, p = 4.7 × 10−8); AUDIT-C PRS was not an independent predictor of any phenotype. In ALSPAC, the AUDIT-C PRS was associated with alcohol dependence (R2 = 0.96%, p = 4.8 × 10−6). In GS, AUDIT-C PRS was a better predictor of weekly alcohol use (R2 = 0.27%, p = 5.5 × 10−11), while AUDIT-P PRS was more associated with problem drinking (R2 = 0.40%, p = 9.0 × 10−7). Lastly, AUDIT-P PRS was associated with ICD-based alcohol-related disorders in the UKB subset (R2 = 0.18%, p < 2.0 × 10−16).
AUDIT-P PRS was associated with a range of alcohol-related phenotypes across population-based and ascertained cohorts, while AUDIT-C PRS showed less utility in the ascertained cohort. We show that AUDIT-P is genetically correlated with both use and misuse and demonstrate the influence of ascertainment schemes on PRS analyses.
Predicting the magnitude of the annual seasonal peak in influenza-like illness (ILI)-related emergency department (ED) visit volumes can inform the decision to open influenza care clinics (ICCs), which can mitigate pressure at the ED. Using ILI-related ED visit data from the Alberta Real Time Syndromic Surveillance Net for Edmonton, Alberta, Canada, we developed (training data, 1 August 2004–31 July 2008) and tested (testing data, 1 August 2008–19 February 2014) spatio-temporal statistical prediction models of daily ILI-related ED visits to estimate high visit volumes 3 days in advance. Our Main Model, based on a generalised linear mixed model with random intercept, incorporated prediction residuals over 14 days and captured increases in observed volume ahead of peaks. During seasonal influenza periods, our Main Model predicted volumes within ±30% of observed volumes for 67%–82% of high-volume days and within 0.3%–21% of observed seasonal peak volumes. Model predictions were not as successful during the 2009 H1N1 pandemic. Our model can provide early warning of increases in ILI-related ED visit volumes during seasonal influenza periods of differing intensities. These predictions may be used to support public health decisions, such as if and when to open ICCs, during seasonal influenza epidemics.
Here we provide an update of the 2013 report on the Nigerian Twin and Sibling Registry (NTSR). The major aim of the NTSR is to understand genetic and environmental influences and their interplay in psychological and mental health development in Nigerian children and adolescents. Africans have the highest twin birth rates among all human populations, and Nigeria is the most populous country in Africa. Due to its combination of large population and high twin birth rates, Nigeria has one of the largest twin populations in the world. In this article, we provide current updates on the NTSR samples recruited, recruitment procedures, zygosity assessment and findings emerging from the NTSR.
The Kempen system is a dairy feeding system in which diet is provided in the form of a compound feed (CF) and hay offered ad libitum. Ad libitum access to CF and hay allows cows in this system to achieve a high DM intake (DMI). Out of physiological concerns, the voluntary hay intake could be increased and the consumption pattern of CF could be manipulated to maintain proper rumen functioning and health. This study investigated the effects of an artificial hay aroma and CF formulation on feed intake pattern, rumen function and milk production in mid- to late-lactating dairy cows. Twenty Holstein–Friesian cows were assigned to four treatments in a 4 × 4 Latin square design. Diet consisted of CF and grass hay (GH), fed separately, and both offered ad libitum, although CF supply was restricted in maximum meal size and speed of supply by an electronic system. Treatments were the combination of two CF formulations – high in starch (CHS) and fibre (CHF); and two GH – untreated (UGH) and the same hay treated with an artificial aroma (TGH). Meal criteria were determined using three-population Gaussian–Gaussian–Weibull density functions. No GH × CF interaction effects on feed intake pattern characteristics were found. Total DMI and CF intake, but not GH intake, were greater (P < 0.01) in TGH treatment, and feed intake was not affected by type of CF. Total visits to feeders per day, visits to the GH feeder, visits to the CF feeder and CF eating time (all P < 0.01) were significantly greater in cows fed with TGH. Meal frequency, meal size and meal duration were unaffected by treatments. Cows fed CHF had a greater milk fat (P = 0.02), milk urea content (P < 0.01) and a greater milk fat yield (P < 0.01). Cows fed TGH had a greater milk lactose content and lactose yield (P < 0.05), and milk urea content (P < 0.01). Cows fed TGH had smaller molar proportions of acetic acid and greater molar proportions of propionic acid compared with UGH. In conclusion, treatment of GH with an artificial aroma increased CF intake and total DMI, but did not affect hay intake. Additionally, GH treatment increased the frequency of visits to both feeders, and affected rumen volatile fatty acid profile. Type of CF did not affect meal patterns, ruminal pH, nor fermentation profiles.
Ultra-massive (⩾M⊙) oxygen/neon (ONe) core white dwarfs (WDs) are the result of the evolution of isolated progenitor stars with masses above 6−M⊙. It is expected that hydrogen-rich (DA) ultra-massive WDs harbor crystallized cores at the typical temperatures of the ZZ Ceti instability strip. These stars offer a unique opportunity to study the processes of crystallization and to infer their core chemical composition. We present a study of the evolution and asteroseismology of ultra-massive DA WDs. We found that all pulsating WDs known to date with M⩾1.1M⊙ should have more than 80% of their mass crystallized, if a ONe-core is assumed. Finally, we present a complete asteroseismological analysis to the well known ZZ Ceti BPM 37093 and a preliminary analysis to GD 518 and SDSS J0840+5222.
Masses have been computed for the white dwarfs (WDs) in eclipsing, mass exchange (symbiotic), WD–red giant (RG) binaries by using single-lined spectroscopic orbits, orbital inclinations, and the RG masses. Inclinations have been measured for 13 eclipsing symbiotic binaries. Using Gaia data the mass of the RG can be found from evolutionary tracks. Since the WD evolved from the more massive star in the binary, the WD should be more massive than predicted from the mass of the current RG. Typically the WD has a lower mass than expected implying a previous mass exchange stage for these systems.
The vast majority of stars that populate the Universe will end their evolution as white-dwarf stars. Applications of white dwarfs include cosmochronology, evolution of planetary systems, and also as laboratories to study non-standard physics and crystallization. In addition to the knowledge of their surface properties from spectroscopy combined with model atmospheres, the global pulsations that they exhibit during several phases of their evolution allow spying on the deep interior of these stars. Indeed, by means of asteroseismology, an approach based on the comparison between the observed pulsation periods of variable white dwarfs and the periods predicted by representative theoretical models, we can infer details of the internal chemical stratification, the total mass, and even the stellar rotation profile and strength of magnetic fields. In this article, we review the current state of the area, emphasizing the latest findings provided by space-mission data.
Asteroseismology of white dwarf stars has led to a number of interesting results pertaining to the long term evolution and present state of white dwarf interiors. I will review recent results and will give a not necessarily comprehensive view of the prospects for further progress in this area. Two – but only two white dwarf stars - have shown the expected cooling as they age. Careful observations of a few white dwarfs with rich pulsational properties reveal interior compositions as well as the thickness of their surface layers. A few very well observed stars have revealed changes in their pulsational spectra which we don’t understand yet.