Designing and Implementing a Longitudinal Study of Children with Neurological, Genetic, or Metabolic Conditions: \u3cem\u3eCharting the Territory\u3c/em\u3e

Background: Children with progressive metabolic, neurological, or chromosomal conditions and their families anticipate an unknown lifespan, endure unstable and often painful symptoms, and cope with erratic emotional and spiritual crises as the condition progresses along an uncertain trajectory towards death. Much is known about the genetics and pathophysiology of these diseases, but very little has been documented about the trajectory of symptoms for children with these conditions or the associated experience of their families. A longitudinal study design will help to close this gap in knowledge. Methods/Design: Charting the Territory is a longitudinal descriptive, correlational study currently underway with children 0–19 years who are diagnosed with progressive neurological, metabolic, or chromosomal conditions and their families. The purpose of the study is to determine and document the clinical progression of the condition and the associated bio psychosocial spiritual experiences of these parents and siblings age 7–18 years. Approximately 300 families, both newly diagnosed children and those with established conditions, are being recruited in six Canadian cities. Children and their families are being followed for a minimum of 18 months, depending on when they enroll in the study. Family data collection will continue after the child’s death if the child dies during the study period. Data collection includes monthly parental assessment of the child’s symptoms; an annual functional assessment of the child; and completion of established instruments every 6 months by parents to assess family functioning, marital satisfaction, health status, anxiety, depression, stress, burden, grief, spirituality, and growth, and by siblings to assess coping and health. Impact of participation on parents is assessed after 1 year and at the end of the study. Chart reviews are conducted at enrollment and at the conclusion of the study or at the time of the child’s death. Discussion: Knowledge developed from this study will provide some of the first ever detailed descriptions of the clinical symptom trajectory of these non-curable progressive conditions and the bio-psychosocial spiritual aspects for families, from diagnosis through bereavement. Information about developing and implementing this study may be useful to other researchers who are interested in designing a longitudinal study

The sober rave project: investigating the acceptability and personal experiences of alcohol-free dance events

Our research is an innovative, European-wide collaborative investigation into the benefits of alcohol-free events, otherwise known as ‘sober raves’. Much of the existing behaviour work which focuses on preventing and regulating maladaptive alcohol misuse suggests individuals act rationally in choosing to consume alcohol. However, intentions and other cognitive mediators often fail to map onto actual behaviour and do not explain why individuals continue to carry out risky health-risk behaviours, despite being aware of the associated risks. Substance use is also often driven by the pursuit of pleasure, rather than by the avoidance of harms. For example, many young people get social pleasures from drinking alcohol, but due to limited alcohol-free socialising opportunities non-drinkers can feel stigmatised. Our research is focusing on the perceived acceptability, attitudes and perceptions of a range of alcohol-free events for young people across Europe. Following the first stage of this research project, we hope to explore how these types of events could be used as a means of reducing alcohol consumption in young people

Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank

Background X-linked ichthyosis (XLI) is an uncommon dermatological condition resulting from a deficiency of the enzyme steroid sulfatase (STS), often caused by X-linked deletions spanning STS. Some medical comorbidities have been identified in XLI cases, but small samples of relatively young patients has limited this. STS is highly expressed in subcortical brain structures, and males with XLI and female deletion carriers appear at increased risk of developmental/mood disorders and associated traits; the neurocognitive basis of these findings has not been examined. Methods Using the UK Biobank resource, comprising participants aged 40–69 years recruited from the general UK population, we compared multiple medical/neurobehavioural phenotypes in males (n=86) and females (n=312) carrying genetic deletions spanning STS (0.8–2.5 Mb) (cases) to male (n=190 577) and female (n=227 862) non-carrier controls. Results We identified an elevated rate of atrial fibrillation/flutter in male deletion carriers (10.5% vs 2.7% in male controls, Benjamini-Hochberg corrected p=0.009), and increased rates of mental distress (p=0.003), irritability (p<0.001) and depressive-anxiety traits (p<0.05) in male deletion carriers relative to male controls completing the Mental Health Questionnaire. While academic attainment was unaffected, male and female deletion carriers exhibited impaired performance on the Fluid Intelligence Test (Cohen’s d≤0.05, corrected p<0.1). Neuroanatomical analysis in female deletion carriers indicated reduced right putamen and left nucleus accumbens volumes (Cohen’s d≤0.26, corrected p<0.1). Conclusion Adult males with XLI disease-causing deletions are apparently at increased risk of cardiac arrhythmias and self-reported mood problems; altered basal ganglia structure may underlie altered function and XLI-associated psychiatric/behavioural phenotypes. These results provide information for genetic counselling of deletion-carrying individuals and reinforce the need for multidisciplinary medical care

Rhymes with Truck: The Manitoba Food History Project

PreprintThis article provides an overview of the federally funded Manitoba Food History Project, outlining its incorporation of students into the research and publication process and its use of a food truck as a mobile cooking and recording studio. It offers an examination of why other oral historians might—or might not—want their own food history truck."The Manitoba Food History Project is supported in part by funding from the Social Sciences and Humanities Research Council. Our thanks to Diversity Food Services, the University of Winnipeg, and the Oral History Centre for their support."https://www.tandfonline.com/doi/full/10.1080/00940798.2023.217361

Diploptene δ13C values from contemporary thermokarst lake sediments show complex spatial variation

Cryospheric changes in northern high latitudes are linked to significant greenhouse gas flux to the atmosphere, for example, methane that originates from organic matter decomposition in thermokarst lakes. The set of pathways that link methane production in sediments, via oxidation in the lake system, to the flux of residual methane to the atmosphere is complex and exhibits temporal and spatial variation. The isotopic signal of bacterial biomarkers (hopanoids, e.g. diploptene) in sediments has been used to identify contemporary ocean-floor methane seeps and, in the geological record, periods of enhanced methane production (e.g. the PETM). The biomarker approach could potentially be used to assess temporal changes in lake emissions through the Holocene via the sedimentary biomarker record. However, there are no data on the consistency of the signal of isotopic depletion in relation to source or on the amount of noise (unexplained variation) in biomarker values from modern lake sediments. We assessed methane oxidation as represented by the isotopic signal of biomarkers from methane oxidising bacteria (MOB) in multiple surface sediment samples in three distinct areas known to emit varying levels of methane in two shallow Alaskan thermokarst lakes. Diploptene was present and had δ13C values lower than -38g‰ in all sediments analysed, suggesting methane oxidation was widespread. However, there was considerable variation in δ13C values within each area. The most 13C-depleted diploptene was found in an area of high methane ebullition in Ace Lake (diploptene δ13C values between -68.2 and -50.1‰). In contrast, significantly higher diploptene δ13C values (between -42.9 and -38.8g‰) were found in an area of methane ebullition in Smith Lake. δ13C values of diploptene between -56.8 and -46.9g‰ were found in the centre of Smith Lake, where ebullition rates are low but diffusive methane efflux occurs. The small-scale heterogeneity of the samples may reflect patchy distribution of substrate and/or MOB within the sediments. The two ebullition areas differ in age and type of organic carbon substrate, which may affect methane production, transport, and subsequent oxidation. Given the high amount of variation in surface samples, a more extensive calibration of modern sediment properties, within and among lakes, is required before down-core records of hopanoid isotopic signatures are developed. © Author(s) 2016

Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank

Deletions spanning the STS (steroid sulfatase) gene at Xp22.31 are associated with X-linked ichthyosis, corneal opacities, testicular maldescent, cardiac arrhythmia, and higher rates of developmental and mood disorders/traits, possibly related to the smaller volume of some basal ganglia structures. The consequences of duplication of the same genomic region have not been systematically assessed in large or adult samples, although evidence from case reports/series has indicated high rates of developmental phenotypes. We compared multiple measures of physical and mental health, cognition and neuroanatomy in male (n = 414) and female (n = 938) carriers of 0.8–2.5 Mb duplications spanning STS, and non-carrier male (n = 192, 826) and female (n = 227, 235) controls from the UK Biobank (recruited aged 40–69 from the UK general population). Clinical and self-reported diagnoses indicated a higher prevalence of inguinal hernia and mania/bipolar disorder respectively in male duplication carriers, and a higher prevalence of gastro-oesophageal reflux disease and blistering/desquamating skin disorder respectively in female duplication carriers; duplication carriers also exhibited reductions in several depression-related measures, and greater happiness. Cognitive function and academic achievement did not differ between comparison groups. Neuroanatomical analysis suggested greater lateral ventricle and putamen volume in duplication carriers. In conclusion, Xp22.31 duplications appear largely benign, but could slightly increase the likelihood of specific phenotypes (although results were only nominally-significant). In contrast to deletions, duplications might protect against depressive symptoms, possibly via higher STS expression/activity (resulting in elevated endogenous free steroid levels), and through contributing towards an enlarged putamen volume. These results should enable better genetic counselling of individuals with Xp22.31 microduplications

Rapid Climate-Driven Circulation Changes Threaten Conservation of Endangered North Atlantic Right Whales

As climate trends accelerate, ecosystems will be pushed rapidly into new states, reducing the potential efficacy of conservation strategies based on historical patterns. In the Gulf of Maine, climate-driven changes have restructured the ecosystem rapidly over the past decade. Changes in the Atlantic meridional overturning circulation have altered deepwater dynamics, driving warming rates twice as high as the fastest surface rates. This has had implications for the copepod Calanus finmarchicus, a critical food supply for the endangered North Atlantic right whale (Eubalaena glacialis). The oceanographic changes have driven a deviation in the seasonal foraging patterns of E. glacialis upon which conservation strategies depend, making the whales more vulnerable to ship strikes and gear entanglements. The effects of rapid climate-driven changes on a species at risk undermine current management approaches

Can’t dance without being drunk? Exploring the enjoyment and acceptability of conscious clubbing in young people

This chapter discusses the emergence of the conscious clubbing movement and its potential benefits to young people aged 18–24 as an alternative way of spending social time without drinking alcohol. It first considers why efforts to promote moderate drinking among university students may fail where the environment strongly encourages drinking. The conscious clubbing phenomena are then introduced with examples of organisations and events from around the world. Drawing on the results of an exploratory survey, the chapter then highlights the ways in which conscious clubbing could bring about meaningful experiences in participants’ lives,including increased opportunities for connection with other people. Finally,the chapter discusses new directions for research in this area, including further in-depth qualitative research and conscious clubbing interventions for heavy drinkers

Acceptability of alcohol-free dance in place of traditional alcohol-focused events

Objective: Alcohol misuse prevention often fails to account for or replace the pleasurable benefits of drinking such as relaxing and socialising with friends. Increasingly, alcohol-free dance music events are emerging, allowing people to gain the positive outcomes of dancing without recourse to alcohol. This study sought to explore whether conscious-clubbing would be rated as an acceptable alternative to traditional alcohol-focused events. Design/Setting: An online cross-sectional survey was completed by 281 young respondents (80.4% female; mean age = 22). Method: Health-related cognitions (attitudes, intentions), perceived acceptability towards alcohol-free dance events and the extent to which these were predicted by demographics and individual differences were assessed in the survey. Results: T-tests indicated overall positive attitudes, acceptability, support towards and intention to attend alcohol-free clubbing events regardless of drinking status, with the exception of drinkers’ intentions to attend an event. Exploratory multiple regression analyses indicated that young women and individuals who had previously attended these events held more positive attitudes. These attitudes were associated with acceptability and support, but more favourable attitudes towards alcohol consumption were inversely related to acceptability. More positive attitudes, previous attendance and lower life satisfaction associated with higher intentions to attend an event. Conclusion: Results indicate that alcohol free events may provide an alternative socialising experience, with greater potential utility for young women, non-drinkers and individuals who have previously attended these events. This is of particular importance given that recent literature highlights the need for (non-alcohol) alternatives to socialise among a growing number of individuals