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To describe and compare psychoactive substance misuse help-seeking among transgender (trans) and cisgender (cis) participants from a large multi-national cross-sectional survey.
Trans people experience stressors related to their minority status which have been associated with increased rates of psychoactive substance use and related harm. Despite this, there is a paucity of evidence relating to the treatment needs of trans people who use psychoactive substances, beyond a small body of literature describing a culture of transphobic hostility in general substance misuse services. This paper aims to describe and compare psychoactive substance misuse help-seeking among trans and cis participants from a large multi-national cross-sectional survey.
Over 180,000 participants, recruited from the world's largest annual survey of drug use - the Global Drug Survey (GDS) - during 2018 and 2019, reported use of a range of psychoactive substances in the preceding 12 months. Five gender groups (118,157 cis men, 64,319 cis women, 369 trans men, 353 trans women and 1,857 non-binary people) were compared, using Chi-square and z-tests with Bonferroni correction, on items relating to the desire to use less psychoactive substances and the need to seek help to achieve this. Respondents from GDS 2018 were also assessed for substance dependence. Binary logistic regression was used to compare gender groups on self-reported substance dependence to frame the help-seeking analyses.
Trans respondents (n = 1,710) to GDS 2018 were significantly more likely than cis respondents to report use of illicit substances (OR = 1.66-2.93) and dependence on cannabis (OR = 2.39), alcohol (OR = 3.28) and novel psychoactive substances (OR = 4.60). In the combined GDS 2018 and 2019 dataset, there were no significant differences between trans (n = 2,579) and cis (n = 182,476) participants on the desire to reduce substance use. However, among those who did report wanting to use less, non-binary people and trans women were most likely to want help to achieve this.
Trans respondents reported a greater need for help with reducing substance use than cis respondents. Given the deficit of specialist services for psychoactive substance users who are trans, there is a need for a more thorough understanding of the barriers and facilitators to their engagement in general substance misuse services. In the interim, substance misuse service providers require education about gender minority status to help meet the needs of trans clients.
Major depressive disorder and neuroticism (Neu) share a large genetic basis. We sought to determine whether this shared basis could be decomposed to identify genetic factors that are specific to depression.
We analysed summary statistics from genome-wide association studies (GWAS) of depression (from the Psychiatric Genomics Consortium, 23andMe and UK Biobank) and compared them with GWAS of Neu (from UK Biobank). First, we used a pairwise GWAS analysis to classify variants as associated with only depression, with only Neu or with both. Second, we estimated partial genetic correlations to test whether the depression's genetic link with other phenotypes was explained by shared overlap with Neu.
We found evidence that most genomic regions (25/37) associated with depression are likely to be shared with Neu. The overlapping common genetic variance of depression and Neu was genetically correlated primarily with psychiatric disorders. We found that the genetic contributions to depression, that were not shared with Neu, were positively correlated with metabolic phenotypes and cardiovascular disease, and negatively correlated with the personality trait conscientiousness. After removing shared genetic overlap with Neu, depression still had a specific association with schizophrenia, bipolar disorder, coronary artery disease and age of first birth. Independent of depression, Neu had specific genetic correlates in ulcerative colitis, pubertal growth, anorexia and education.
Our findings demonstrate that, while genetic risk factors for depression are largely shared with Neu, there are also non-Neu-related features of depression that may be useful for further patient or phenotypic stratification.
Higher health literacy is associated with higher cognitive function and better health. Despite its wide use in medical research, no study has investigated the genetic contributions to health literacy. Using 5783 English Longitudinal Study of Ageing (ELSA) participants (mean age = 65.49, SD = 9.55) who had genotyping data and had completed a health literacy test at wave 2 (2004–2005), we carried out a genome-wide association study (GWAS) of health literacy. We estimated the proportion of variance in health literacy explained by all common single nucleotide polymorphisms (SNPs). Polygenic profile scores were calculated using summary statistics from GWAS of 21 cognitive and health measures. Logistic regression was used to test whether polygenic scores for cognitive and health-related traits were associated with having adequate, compared to limited, health literacy. No SNPs achieved genome-wide significance for association with health literacy. The proportion of variance in health literacy accounted for by common SNPs was 8.5% (SE = 7.2%). Greater odds of having adequate health literacy were associated with a 1 standard deviation higher polygenic score for general cognitive ability [OR = 1.34, 95% CI (1.26, 1.42)], verbal-numerical reasoning [OR = 1.30, 95% CI (1.23, 1.39)], and years of schooling [OR = 1.29, 95% CI (1.21, 1.36)]. Reduced odds of having adequate health literacy were associated with higher polygenic profiles for poorer self-rated health [OR = 0.92, 95% CI (0.87, 0.98)] and schizophrenia [OR = 0.91, 95% CI (0.85, 0.96)). The well-documented associations between health literacy, cognitive function and health may partly be due to shared genetic etiology. Larger studies are required to obtain accurate estimates of SNP-based heritability and to discover specific health literacy-associated genetic variants.
Approximately half of the variation in wellbeing measures overlaps with variation in personality traits. Studies of non-human primate pedigrees and human twins suggest that this is due to common genetic influences. We tested whether personality polygenic scores for the NEO Five-Factor Inventory (NEO-FFI) domains and for item response theory (IRT) derived extraversion and neuroticism scores predict variance in wellbeing measures. Polygenic scores were based on published genome-wide association (GWA) results in over 17,000 individuals for the NEO-FFI and in over 63,000 for the IRT extraversion and neuroticism traits. The NEO-FFI polygenic scores were used to predict life satisfaction in 7 cohorts, positive affect in 12 cohorts, and general wellbeing in 1 cohort (maximal N = 46,508). Meta-analysis of these results showed no significant association between NEO-FFI personality polygenic scores and the wellbeing measures. IRT extraversion and neuroticism polygenic scores were used to predict life satisfaction and positive affect in almost 37,000 individuals from UK Biobank. Significant positive associations (effect sizes <0.05%) were observed between the extraversion polygenic score and wellbeing measures, and a negative association was observed between the polygenic neuroticism score and life satisfaction. Furthermore, using GWA data, genetic correlations of -0.49 and -0.55 were estimated between neuroticism with life satisfaction and positive affect, respectively. The moderate genetic correlation between neuroticism and wellbeing is in line with twin research showing that genetic influences on wellbeing are also shared with other independent personality domains.
Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura. It is divided into three subtypes FHM1, FHM2 and FHM3, which are caused by mutations in the CACNA1A, ATP1A2 and SCN1A genes respectively. As part of a regular diagnostic service, we investigated 168 patients with FHM symptoms. Samples were tested for mutations contained within the CACNA1A gene. Some tested samples (4.43%) showed an FHM1 mutation, with five of the mutations found in exon 5, one mutation in exon 16 and one in exon 17. Four polymorphisms were also detected, one of which occurred in a large percentage of samples (14.88%). The exon 16 2094G>A polymorphism, however, has been found to occur in healthy Caucasian control populations up to a frequency of 16% and is not considered to be significantly associated with FHM. A finding of significance, found in a single patient, was the detection of a novel mutation in exon 5 that results in a P225H change. The affected individual was an 8-year-old female. The exact phenotypic effect of this mutation is unknown, and further studies are needed to understand the pathophysiology of this mutation in FHM1. New information will allow for diagnostic procedures to be constantly updated, thus improving accuracy of diagnosis. It is possible that new information will also aid the development of new therapeutic agents for the treatment of FHM.
Over the past decade, the number of clinical trials registered with the Food and Drug Administration (FDA) has increased dramatically. The business of clinical research has become more diverse, involving academic institutions, clinician-researchers in community settings, pharmaceutical companies, and contract research organizations. This growth has been accompanied by increasing concerns about the ethical conduct of research. Much of this concern has been directed to procedural issues including institutional review board (IRB) review, data monitoring, and informed consent forms. However, the protection of human subjects cannot be achieved by relying solely on procedural safeguards. There are more nuanced issues related to recruitment and retention of subjects, and to the process of informed consent, that are generated during the interaction between study staff and subjects. It is only through an examination of these relationships that one can more fully define and understand the challenges of protecting subjects in research.
Four bone marrow transplant recipients consecutively occupying the same room on our Oncology-Hematology Special Care Unit (OHSCU) became colonized with Chaetomium species between January and April, 1987. These patients, aged 27 to 43 years, were immunocompromised as a result of intensive chemotherapy, and were consequently at increased risk for development of invasive fungal infection. At the time of Chaetomium colonization, all patients were febrile, two had transient new infiltrates on chest x-ray, and three were receiving amphotericin B therapy. Subsequent environmental cultures revealed Chaetomium contamination of the OHSCU air-handling system, including the HEPA (high-efficiency particulate air) filters in seven of the nine rooms comprising the unit. Because fungal colonization of HEPA filters used to create a “protective environment” for immunocompromised patients can occur and can serve as a source for patient infections, guidelines concerning proper surveillance of these HEPA filters should be established. We suggest that before a new patient enters a “protected” room, the clean side of the HEPA filter should be cultured. If fungi are recovered from that culture, we would recommend changing the filter.
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