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Alcohol use disorder (AUD) and schizophrenia (SCZ) frequently co-occur, and large-scale genome-wide association studies (GWAS) have identified significant genetic correlations between these disorders.
We used the largest published GWAS for AUD (total cases = 77 822) and SCZ (total cases = 46 827) to identify genetic variants that influence both disorders (with either the same or opposite direction of effect) and those that are disorder specific.
We identified 55 independent genome-wide significant single nucleotide polymorphisms with the same direction of effect on AUD and SCZ, 8 with robust effects in opposite directions, and 98 with disorder-specific effects. We also found evidence for 12 genes whose pleiotropic associations with AUD and SCZ are consistent with mediation via gene expression in the prefrontal cortex. The genetic covariance between AUD and SCZ was concentrated in genomic regions functional in brain tissues (p = 0.001).
Our findings provide further evidence that SCZ shares meaningful genetic overlap with AUD.
Substantial progress has been made in the standardization of nomenclature for paediatric and congenital cardiac care. In 1936, Maude Abbott published her Atlas of Congenital Cardiac Disease, which was the first formal attempt to classify congenital heart disease. The International Paediatric and Congenital Cardiac Code (IPCCC) is now utilized worldwide and has most recently become the paediatric and congenital cardiac component of the Eleventh Revision of the International Classification of Diseases (ICD-11). The most recent publication of the IPCCC was in 2017. This manuscript provides an updated 2021 version of the IPCCC.
The International Society for Nomenclature of Paediatric and Congenital Heart Disease (ISNPCHD), in collaboration with the World Health Organization (WHO), developed the paediatric and congenital cardiac nomenclature that is now within the eleventh version of the International Classification of Diseases (ICD-11). This unification of IPCCC and ICD-11 is the IPCCC ICD-11 Nomenclature and is the first time that the clinical nomenclature for paediatric and congenital cardiac care and the administrative nomenclature for paediatric and congenital cardiac care are harmonized. The resultant congenital cardiac component of ICD-11 was increased from 29 congenital cardiac codes in ICD-9 and 73 congenital cardiac codes in ICD-10 to 318 codes submitted by ISNPCHD through 2018 for incorporation into ICD-11. After these 318 terms were incorporated into ICD-11 in 2018, the WHO ICD-11 team added an additional 49 terms, some of which are acceptable legacy terms from ICD-10, while others provide greater granularity than the ISNPCHD thought was originally acceptable. Thus, the total number of paediatric and congenital cardiac terms in ICD-11 is 367. In this manuscript, we describe and review the terminology, hierarchy, and definitions of the IPCCC ICD-11 Nomenclature. This article, therefore, presents a global system of nomenclature for paediatric and congenital cardiac care that unifies clinical and administrative nomenclature.
The members of ISNPCHD realize that the nomenclature published in this manuscript will continue to evolve. The version of the IPCCC that was published in 2017 has evolved and changed, and it is now replaced by this 2021 version. In the future, ISNPCHD will again publish updated versions of IPCCC, as IPCCC continues to evolve.
Infant neurodevelopment is a complex process which may be affected by different events during pregnancy, such as hypertensive disorders of pregnancy (HDP). We conducted a prospective cohort study to compare the prevalence of neurodevelopmental disorders in infants born to mothers with and without HDP at six months of age. Participants attended the Health Observatory of Instituto de Desarrollo e Investigaciones Pediátricas “Prof. Dr. Fernando E. Viteri” during 2018 and 2019. Infant neurodevelopment was assessed with the Bayley Scales of Infant and Toddler Development—Third Edition (Bayley-III). Data were analyzed using Chi-square, Student’s t-test and Mann–Whitney test. Of the 132 participating infants, 68 and 64 were born to mothers with and without HDP, respectively. At six months, the prevalence of risk of neurodevelopmental delay was significantly higher in infants born to mothers with than without HDP (27.9% vs. 9.4%; p = 0.008) (odds ratio, 3.71; 95% confidence interval, 1.30; 12.28). In conclusion, infants born to mothers with HDP had three times increased risk of neurodevelopmental delay at six months of age.
Early childhood mental health consultation (ECMHC) has been promoted by the federal government as a promising model for reducing early childhood expulsions and suspensions and is now implemented by numerous states. Despite growing ECMHC proliferation, this study is only the second randomized controlled trial of ECMHC, extending the methodologies of the first to include assessment of effects on random peers. Classrooms were assigned randomly to treatment or waitlist-control condition (n = 51 classrooms, 57 preschool teachers, and 190 preschoolers). Evaluation measures were collected at both pretreatment and posttreatment, following approximately six consultation visits. Classroom and teacher outcomes were evaluated with ordinary least squares regressions, while hierarchical linear modeling was used to evaluate child-level outcomes, accounting for the nested study design. Treatment children (both the target children who prompted the referral for ECMHC and random peers) evidenced significant improvements in social and emotional skills. Promising trend findings were noted for child behavior problem reduction and teacher pedagogical approach and locus of control. No significant effects were found on likelihood of expulsion and classroom mental health climate. This is the first ECMHC to demonstrate effects on nontarget peers in a rigorous randomized controlled trial. Programmatic and methodologic limitations and implications are discussed.
Austenitic stainless steel is used in several industrial branches due to its mechanical and thermal properties, and to its good corrosion resistance. With low cost and biocompatibility, it is used to manufacture prostheses and devices for bone fixation. However, direct contact with body fluids may cause corrosion. Thin films of FeAlCr intermetallic alloy can be used to increase service life of prostheses and avoid replacement surgeries. The aim of this work was to cover the austenitic stainless steel to study the effect of target–substrate distance on the film characteristics. Coatings were performed using the magnetron sputtering technique with the substrate positioned at different distances from the target. The influence on film thickness, morphology, roughness, and adhesion to the substrate was investigated. The thin films of FeAlCr (160 nm thick deposited at 100 mm far from the substrate) were formed by smaller particles (11.2 nm long), densely packed (551,000 particles/mm2), with flat and regular appearance, and greater adherence to the substrate.
Individuals with schizophrenia are at higher risk of physical illnesses, which are a major contributor to their 20-year reduced life expectancy. It is currently unknown what causes the increased risk of physical illness in schizophrenia.
To link genetic data from a clinically ascertained sample of individuals with schizophrenia to anonymised National Health Service (NHS) records. To assess (a) rates of physical illness in those with schizophrenia, and (b) whether physical illness in schizophrenia is associated with genetic liability.
We linked genetic data from a clinically ascertained sample of individuals with schizophrenia (Cardiff Cognition in Schizophrenia participants, n = 896) to anonymised NHS records held in the Secure Anonymised Information Linkage (SAIL) databank. Physical illnesses were defined from the General Practice Database and Patient Episode Database for Wales. Genetic liability for schizophrenia was indexed by (a) rare copy number variants (CNVs), and (b) polygenic risk scores.
Individuals with schizophrenia in SAIL had increased rates of epilepsy (standardised rate ratio (SRR) = 5.34), intellectual disability (SRR = 3.11), type 2 diabetes (SRR = 2.45), congenital disorders (SRR = 1.77), ischaemic heart disease (SRR = 1.57) and smoking (SRR = 1.44) in comparison with the general SAIL population. In those with schizophrenia, carrier status for schizophrenia-associated CNVs and neurodevelopmental disorder-associated CNVs was associated with height (P = 0.015–0.017), with carriers being 7.5–7.7 cm shorter than non-carriers. We did not find evidence that the increased rates of poor physical health outcomes in schizophrenia were associated with genetic liability for the disorder.
This study demonstrates the value of and potential for linking genetic data from clinically ascertained research studies to anonymised health records. The increased risk for physical illness in schizophrenia is not caused by genetic liability for the disorder.
Rey’s Auditory Verbal Learning Test (AVLT) is a widely used word list memory test. We update normative data to include adjustment for verbal memory performance differences between men and women and illustrate the effect of this sex adjustment and the importance of excluding participants with mild cognitive impairment (MCI) from normative samples.
This study advances the Mayo’s Older Americans Normative Studies (MOANS) by using a new population-based sample through the Mayo Clinic Study of Aging, which randomly samples residents of Olmsted County, Minnesota, from age- and sex-stratified groups. Regression-based normative T-score formulas were derived from 4428 cognitively unimpaired adults aged 30–91 years. Fully adjusted T-scores correct for age, sex, and education. We also derived T-scores that correct for (1) age or (2) age and sex. Test-retest reliability data are provided.
From raw score analyses, sex explained a significant amount of variance in performance above and beyond age (8–10%). Applying original age-adjusted MOANS norms to the current sample resulted in significantly fewer-than-expected participants with low delayed recall performance, particularly in women. After application of new T-scores adjusted only for age, even in normative data derived from this sample, these age-adjusted T-scores showed scores <40 T occurred more frequently among men and less frequently among women relative to T-scores that also adjusted for sex.
Our findings highlight the importance of using normative data that adjust for sex with measures of verbal memory and provide new normative data that allow for this adjustment for the AVLT.
The nature and degree of cognitive impairments in schizoaffective disorder is not well established. The aim of this meta-analysis was to characterise cognitive functioning in schizoaffective disorder and compare it with cognition in schizophrenia and bipolar disorder. Schizoaffective disorder was considered both as a single category and as its two diagnostic subtypes, bipolar and depressive disorder.
Following a thorough literature search (468 records identified), we included 31 studies with a total of 1685 participants with schizoaffective disorder, 3357 with schizophrenia and 1095 with bipolar disorder. Meta-analyses were conducted for seven cognitive variables comparing performance between participants with schizoaffective disorder and schizophrenia, and between schizoaffective disorder and bipolar disorder.
Participants with schizoaffective disorder performed worse than those with bipolar disorder (g = −0.30) and better than those with schizophrenia (g = 0.17). Meta-analyses of the subtypes of schizoaffective disorder showed cognitive impairments in participants with the depressive subtype are closer in severity to those seen in participants with schizophrenia (g = 0.08), whereas those with the bipolar subtype were more impaired than those with bipolar disorder (g = −0.23) and less impaired than those with schizophrenia (g = 0.29). Participants with the depressive subtype had worse performance than those with the bipolar subtype but this was not significant (g = 0.25, p = 0.05).
Cognitive impairments increase in severity from bipolar disorder to schizoaffective disorder to schizophrenia. Differences between the subtypes of schizoaffective disorder suggest combining the subtypes of schizoaffective disorder may obscure a study's results and hamper efforts to understand the relationship between this disorder and schizophrenia or bipolar disorder.
It is not clear to what extent associations between schizophrenia, cannabis use and cigarette use are due to a shared genetic etiology. We, therefore, examined whether schizophrenia genetic risk associates with longitudinal patterns of cigarette and cannabis use in adolescence and mediating pathways for any association to inform potential reduction strategies.
Associations between schizophrenia polygenic scores and longitudinal latent classes of cigarette and cannabis use from ages 14 to 19 years were investigated in up to 3925 individuals in the Avon Longitudinal Study of Parents and Children. Mediation models were estimated to assess the potential mediating effects of a range of cognitive, emotional, and behavioral phenotypes.
The schizophrenia polygenic score, based on single nucleotide polymorphisms meeting a training-set p threshold of 0.05, was associated with late-onset cannabis use (OR = 1.23; 95% CI = 1.08,1.41), but not with cigarette or early-onset cannabis use classes. This association was not mediated through lower IQ, victimization, emotional difficulties, antisocial behavior, impulsivity, or poorer social relationships during childhood. Sensitivity analyses adjusting for genetic liability to cannabis or cigarette use, using polygenic scores excluding the CHRNA5-A3-B4 gene cluster, or basing scores on a 0.5 training-set p threshold, provided results consistent with our main analyses.
Our study provides evidence that genetic risk for schizophrenia is associated with patterns of cannabis use during adolescence. Investigation of pathways other than the cognitive, emotional, and behavioral phenotypes examined here is required to identify modifiable targets to reduce the public health burden of cannabis use in the population.
OBJECTIVES/GOALS: Improve infrastructure, resources, partnerships, and metrics to enhance the research environment for Hispanic researchers as a Minority Serving Institution. To support the research infrastructure in our Campus to encourage a research culture of sustainability and productivity. METHODS/STUDY POPULATION: Development of four research capacity-building models to enhance the pathway of junior researchers as independent researchers:1. MSc Phase I-Scholar Award 2 years in a Post Doctoral Master in CTR ; 2. Advanced CTR Award 1 year to support research infrastructure development in submitting a grant to NIH with the mentoring of a Visiting Endowed Chair; 3. Mini Infrastructure Research Award 1 year provides funds to increase research productivity; 4. Award on Excellence in CTR recognizes a faculty member with a distinguished research portfolio that support HiREC Career Coach and Mentoring approach. HiREC targets junior faculty, early and mid-career researchers from our two partners Schools. RESULTS/ANTICIPATED RESULTS: HiREC has been recognize as support for research infrastructure development. Since 2011, 10 MSc Phase I-Scholar Awards have been granted increasing the pool of trained Hispanics researchers in P. R., the Advanced CTR Award of $50,000 each, from March, 2019, was granted to 2 women researchers from the SoM and 2 Visiting Endowed Chair were accepted as candidates. The Mini Infrastructure Research Award, since 2017, supported the development of 2 Science labs, data analysis, 3 peer review publications and other research capacity building. Two researchers from the SoM were honored with the HiREC 2018 Award on Excellence in CTR heighten the institutional recognition of top researchers’ endeavors. DISCUSSION/SIGNIFICANCE OF IMPACT: It’s imperative to pursue specific strategies that lead to successful research capacity-building models. By acknowledging institutional research infrastructure needs, trendy scientific and technological knowledges and researchers’ needs, HiREC have been able to successfully accomplish its mission. CONFLICT OF INTEREST DESCRIPTION: Authors have no conflict of interest in this research.
Supervised machine learning methods are increasingly employed in political science. Such models require costly manual labeling of documents. In this paper, we introduce active learning, a framework in which data to be labeled by human coders are not chosen at random but rather targeted in such a way that the required amount of data to train a machine learning model can be minimized. We study the benefits of active learning using text data examples. We perform simulation studies that illustrate conditions where active learning can reduce the cost of labeling text data. We perform these simulations on three corpora that vary in size, document length, and domain. We find that in cases where the document class of interest is not balanced, researchers can label a fraction of the documents one would need using random sampling (or “passive” learning) to achieve equally performing classifiers. We further investigate how varying levels of intercoder reliability affect the active learning procedures and find that even with low reliability, active learning performs more efficiently than does random sampling.
Treatment resistant schizophrenia (TRS) is one of the most disabling of psychiatric disorders, affecting about 1/3 of patients. First-line treatments include both atypical and typical antipsychotics. The original atypical, clozapine, is a final option, and although it has been shown to be the only effective treatment for TRS, many patients do not respond well to clozapine. Clozapine use is related to adverse events, most notably agranulocytosis, a potentially fatal blood disorder which affects about 1% of those prescribed clozapine and requires regular blood monitoring. This as a barrier to prescription and there is a long delay in access for TRS patients, of five or more years, from first antipsychotic prescription. Better tools to predict treatment resistance and to identify risk of adverse events would allow faster and safer access to clozapine for patients who are likely to benefit from it. The CRESTAR project (www.crestar-project.eu) is a European Framework 7 collaborative project that aims to develop tools to predict i) treatment response, particularly patients who are less likely to respond to usual antipsychotics, indicating treatment with clozapine as early as possible, ii) patients who are at high or low risk of adverse events and side effects, iii) extreme TRS patients so that they can be stratified in clinical trials for novel treatments. CRESTAR has addressed these questions by examining genome-wide association data, genome sequence, epigenetic biomarkers and epidemiological data in European patient cohorts characterized for treatment response, and adverse drug reaction using data from clozapine therapeutic drug monitoring and linked National population medical and pharmacy databases, to identify predictive factors. In parallel CRESTAR will perform health economic research on potential benefits, and ethics and patient-centred research with stakeholders.
In migrants, alcohol becomes a frequent problem in particular from the age of 50 onwards. Preventive behaviour is influenced by cultural differences in terms of how alcohol consumption is evaluated and dealt with. But migrants are not sufficiently reached by offers of help in combating addiction. Aim of the study was to improve the sensitisation regarding alcohol consumption.
Cluster-randomized controlled multicenter study with immigrants (n = 268) comparing a transcultural prevention measurement (one event and migration sensitive transcultural brochures; TPC) against an usual prevention measurement (event and information brochure; TAU). Main outcomes were attitudes towards alcohol and alcohol consumption after 6 months.
Overall the immigrants accept the transcultural prevention concept better (TPC > TAU; p = .023). Attitudes towards alcohol are more difficult to change. Only regarding talking openly about alcohol problems (TPC > TAU; p = .021) and willingness to seek for help (TPC > TAU; p = .001) we found an effect of the TPC. 6 months after the participants in TPC reduced their alcohol consumption markedly (I drink less/I don't drink at all: TPC 45,9% vs. TAU 16,7%; p = .004).
The consideration of cultural, migration-related and linguistic factors in health care is important to change health related behaviour. Therefore the sensitization of health care providers for transcultural perspectives and diversity is necessary.
Cardiovascular risk prediction tools are important for cardiovascular disease (CVD) prevention, however, which algorithms are appropriate for people with severe mental illness (SMI) is unclear.
To determine the cost-effectiveness using the net monetary benefit (NMB) approach of two bespoke SMI-specific risk algorithms compared to standard risk algorithms for primary CVD prevention in those with SMI, from an NHS perspective.
A microsimulation model was populated with 1000 individuals with SMI from The Health Improvement Network Database, aged 30–74 years without CVD. Four cardiovascular risk algorithms were assessed; (1) general population lipid, (2) general population BMI, (3) SMI-specific lipid and (4) SMI-specific BMI, compared against no algorithm. At baseline, each cardiovascular risk algorithm was applied and those high-risk (> 10%) were assumed to be prescribed statin therapy, others received usual care. Individuals entered the model in a ‘healthy’ free of CVD health state and with each year could retain their current health state, have cardiovascular events (non-fatal/fatal) or die from other causes according to transition probabilities.
The SMI-specific BMI and general population lipid algorithms had the highest NMB of the four algorithms resulting in 12 additional QALYs and a cost saving of approximately £37,000 (US$ 58,000) per 1000 patients with SMI over 10 years.
The general population lipid and SMI-specific BMI algorithms performed equally well. The ease and acceptability of use of a SMI-specific BMI algorithm (blood tests not required) makes it an attractive algorithm to implement in clinical settings.
Disclosure of interest
The authors have not supplied their declaration of competing interest.
Sleep disturbances are associated with an increased risk of suicidal behavior. The evidence primarily stems from studies based on questionnaires about sleep quality. In recent years, the availability of wearable health technology has increased and offers an inexpensive, appealing, and accessible way to measure sleep.
Our aim is to assess the feasibility and acceptability of wearable sleep tracking monitoring devices in a sample of suicide attempters.
A prospective, open-label, 12-months study will be conducted in the emergency department (ED) and psychiatric unit (PU) of the university hospital of Brest, France. Inclusion criteria are male or female aged 18 or over, surviving a suicide attempt, discharged from ED or PU, and giving consent. The sleep tracker and a smartphone will be given to the patient after discharge. He or she will receive brief training on how to use the sleep tracker. Patient will be asked to monitor their sleep during the five days following the discharge. The feasibility will be explored by analyzing the data proceeding from the sleep tracker. The acceptability will be assessed during the five-days follow up visit, using a standardized questionnaire.
Preliminary results of this ongoing study show that feasibility and acceptance may be related to technical features of wearable devices.
A better understanding of the bidirectional mechanism between sleep disturbances and suicide behavior will allow the design of tailored interventions to prevent suicide attempts.
Disclosure of interest
The authors have not supplied their declaration of competing interest.