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Measuring energy expenditure in narcolepsy using doubly labeled water and respiration chamber calorimetry
Get PDFSTUDY OBJECTIVES: Hypocretin deficiency causes type 1 narcolepsy, a condition characterized by excessive daytime sleepiness, cataplexy, and fragmented nocturnal sleep. Two-thirds of people with narcolepsy are also overweight, of which half are obese. The pathophysiology behind weight gain in people with narcolepsy remains unknown. We assessed a possible decrease in energy expenditure as a cause for overweight in narcolepsy using respiration chamber calorimetry and doubly labeled water. METHODS: Ten males with type I narcolepsy and nine matched (for age, sex, and BMI) healthy controls were enrolled. Participants stayed in a respiration chamber for 24 hours. They subsequently received doubly labeled water and wore an accelerometer for 2 weeks to assess energy expenditure and physical activity under daily living conditions. Total daily energy expenditure, resting energy expenditure (REE), overnight metabolic rate, physical activity level, and activity-induced energy expenditure were measured. RESULTS: No significant differences were found in REE, mean 24-hour respiration chamber energy expenditure, overnight metabolic rate, and activity-induced energy expenditure when comparing people with narcolepsy type 1 to controls. Physical activity was also comparable between groups. CONCLUSIONS: Energy expenditure in narcolepsy type 1 is similar to matched controls, suggesting comparable metabolism and physical activity rates. It remains possible that metabolic changes are most pronounced around disease onset. In addition, patients had to discontinue their medication which may have influenced the results. Still, our findings suggest that other factors may also play a role in weight gain in narcolepsy, such as differences in dietary behavior.</p
The mechanism at hand:A goal-driven approach to modeling the human sensorimotor system
Get PDFThe human brain controls the body to interact with the world. And in turn, both the body and the individual’s intentions shape the brain’s activity. “The Mechanism at Hand” introduces a novel framework for computational neuroscience that allows researchers to study the brain under this perspective. By combining machine learning, neuroanatomy, and robotics, it presents an approach that links motor behaviour to the neural activity that produces it. Specifically, the thesis developed a biologically plausible model of the large network of brain regions that enables the human to produce fine motor movements in the hand. Machine learning techniques then trained this model to manipulate objects by controlling a simulated robotic hand. The thesis then analysed the neural activity the model exhibited while manipulating an object and thereby revealed a novel mechanism that may explain how the brain plans movements. In sum, this research highlights the potential of analysing brain functions in the context of bodily action and supports this approach by offering practical tools and conceptual guidelines
Experiences with patient-initiated follow-up supported by asynchronous telemedicine in spondyloarthritis: a mixed methods study
No full textObjectives: To evaluate the experiences of patients with spondyloarthritis (SpA) and their healthcare providers (HCPs) with patient-initiated follow-up (PIFU) supported by asynchronous telemedicine (TM) compared with their past experiences with usual care, and to identify prerequisites for sustainable implementation of PIFU/TM. Methods: Individual, semi-structured interviews were conducted with purposefully selected patients (n = 21) and HCPs (n = 9) who previously participated in the ‘TeleSpA’ randomised controlled trial and thematically analysed. PIFU/TM consisted of a once-yearly pre-planned physical visit with in-between remote monitoring at 6 months. Additionally, 13 HCPs completed a quantitative survey, which was analysed descriptively. Results: Most patients and HCPs found PIFU/TM acceptable, given the presence of sufficient health literacy, digital literacy and motivation. Most patients felt no burdensome changes to their personal responsibility, and both in-person and remote communication between stakeholders ran smoothly. Advantages for patients included time savings, and improvements in disease insight and self-efficacy. Some HCPs experienced increased flexibility in their daily planning. Pivotal prerequisites for sustainable implementation were adequate infrastructure to conduct ad hoc diagnostic tests, assured rapid access to the outpatient clinic when necessary, availability of technical and logistical support, and a user-friendly monitoring tool integrated with existing hospital information systems. Fine-tuning the design and delivery of questionnaires as part of TM is an opportunity for future research. Conclusion: PIFU/TM was perceived as an acceptable approach for the follow-up of motivated patients with SpA with adequate health literacy and digital literacy. Preserved accessibility to the outpatient clinic and availability of ancillary support are essential for its sustainable implementation.</p
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No full textPolygenic and Polyenvironment Interplay in Schizophrenia-Spectrum Disorder and Affective Psychosis; the EUGEI First Episode Study
No full textBACKGROUND: Multiple genetic and environmental risk factors play a role in the development of both schizophrenia-spectrum disorders and affective psychoses. How they act in combination is yet to be clarified. METHODS: We analyzed 573 first episode psychosis cases and 1005 controls, of European ancestry. Firstly, we tested whether the association of polygenic risk scores for schizophrenia, bipolar disorder, and depression (PRS-SZ, PRS-BD, and PRS-D) with schizophrenia-spectrum disorder and affective psychosis differed when participants were stratified by exposure to specific environmental factors. Secondly, regression models including each PRS and polyenvironmental measures, including migration, paternal age, childhood adversity and frequent cannabis use, were run to test potential polygenic by polyenvironment interactions. RESULTS: In schizophrenia-spectrum disorder vs controls comparison, PRS-SZ was the strongest genetic predictor, having a nominally larger effect in nonexposed to strong environmental factors such as frequent cannabis use (unexposed vs exposed OR 2.43 and 1.35, respectively) and childhood adversity (3.04 vs 1.74). In affective psychosis vs controls, the relative contribution of PRS-D appeared to be stronger in those exposed to environmental risk. No evidence of interaction was found between any PRS with polyenvironmental score. CONCLUSIONS: Our study supports an independent role of genetic liability and polyenvironmental risk for psychosis, consistent with the liability threshold model. Whereas schizophrenia-spectrum disorders seem to be mostly associated with polygenic risk for schizophrenia, having an additive effect with well-replicated environmental factors, affective psychosis seems to be a product of cumulative environmental insults alongside a higher genetic liability for affective disorders
Real-World Treatment of Schizophrenia in Adults With a 22q11.2 Microdeletion:Traitement dans le monde réel de la schizophrénie chez des adultes atteints du syndrome de microdélétion 22q11.2
No full textObjective: One in every 4 individuals born with a 22q11.2 microdeletion will develop schizophrenia. Thirty years of clinical genetic testing capability have enabled detection of this major molecular susceptibility for psychotic illness. However, there is limited literature on the treatment of schizophrenia in individuals with a 22q11.2 microdeletion, particularly regarding the issue of treatment resistance. Methods: From a large, well-characterized adult cohort with a typical 22q11.2 microdeletion followed for up to 25 years at a specialty clinic, we studied all 107 adults (49 females, 45.8%) meeting the criteria for schizophrenia or schizoaffective disorder. We performed a comprehensive review of lifetime (1,801 patient-years) psychiatric records to determine treatments used and the prevalence of treatment-resistant schizophrenia (TRS). We used Clinical Global Impression–Improvement (CGI-I) scores to compare within-individual responses to clozapine and nonclozapine antipsychotics. For a subgroup with contemporary data (n = 88, 82.2%), we examined antipsychotics and dosage at the last follow-up. Results: Lifetime treatments involved on average 4 different antipsychotic medications per individual. Sixty-three (58.9%) individuals met the study criteria for TRS, a significantly greater proportion than for a community-based comparison (42.9%; χ 2 = 10.38, df = 1, p < 0.01). The non-TRS group was enriched for individuals with genetic diagnosis before schizophrenia diagnosis. Within-person treatment response in TRS was significantly better for clozapine than for nonclozapine antipsychotics (p < 0.0001). At the last follow-up, clozapine was the most common antipsychotic prescribed, followed by olanzapine, risperidone, and paliperidone. Total antipsychotic chlorpromazine equivalent dosages were in typical clinical ranges (median: 450 mg; interquartile range: 300, 750 mg). Conclusion: The results for this large sample indicate that patients with 22q11.2 microdeletion have an increased propensity to treatment resistance. The findings provide evidence about how genetic diagnosis can inform clinical psychiatric management and could help reduce treatment delays. Further research is needed to shed light on the pathophysiology of antipsychotic response and on strategies to optimize outcomes. Plain Language Summary Title: Real-world treatment of schizophrenia in adults with a 22q11.2</p
The impact of nutrition claims on purchase behavior for food products
No full textFaced by increasing emphasis on health, manufacturers try to persuade consumers by using nutrition claims on their packaging. Although experimental research suggests that such claims influence consumer behavior in different ways, it remains unknown whether and to what extent they have an effect in actual grocery situations with large amounts of information to process. In this study, the authors investigate the effect of presence (stressing the presence of a healthy ingredient) and absence nutrition claims (stressing the absence of an unhealthy ingredient) on consumer purchase behavior using UK household scanner purchase data from 17 product categories during the years 2009–2012. They find that presence nutrition claims increase choice while absence nutrition claims decrease choice. Both types of nutrition claims do not influence the quantity purchased. Importantly, a nutrition claim’s effectiveness depends on SKU and category characteristics. Presence nutrition claims are more effective in healthy categories, and absence nutrition claims for SKUs with fewer promotions. At the same time, both nutrition claims are less effective for higher priced SKUs and more effective for brands with higher advertising spending. Absence nutrition claims are more effective when fewer SKUs in the category have the same type of nutrition claim, but presence nutrition claims benefit when more SKUs have the same type of nutrition claim
Lockdown and Unrest:Inequality, Restrictions and Protests During COVID-19
No full textThis paper analyses how pre-pandemic levels of inequality across US counties have shaped the impact of the COVID-19 pandemic on the incidence of protests. The results from difference-in-differences and instrumental variable models using high-frequency weekly data show that more stringent measures to contain the pandemic increased the incidence of protests, but only in US counties with high levels of inequality before the start of the pandemic where grievances may have been initially stronger. The impact of government responses to COVID-19 on protests is largely explained by adverse changes in economic conditions in counties with the highest levels of pre-pandemic inequality. Policy stringency measures were also associated with more protests in the most unequal counties which voted for the Republican party in the 2016 elections and exhibited, at the start of the pandemic, lower levels of trust in the president and lower satisfaction with democracy
Exploring the Relationship of Dietary Intake With Inattention, Hyperactivity, and Impulsivity, Beyond ADHD
No full textObjectives: This study investigates the association between dietary intake and ADHD diagnosis and its dimensions in adolescents.Methods: In the KOALA Birth Cohort Study, 810 adolescents aged 16 to 20 years provided information on ADHD diagnosis and completed a food frequency questionnaire. Dietary patterns were extracted using Principal Component Analysis. Parents reported on ADHD symptoms using the Conners' Parent Rating Scale-Revised Short form, and the Impulsivity subscale from the Temperament in Middle Childhood Questionnaire.Results: The 80 adolescents with ADHD scored higher on the Snacking dietary pattern compared to those without ADHD, while they did not differ on Healthy, Animal-based, Sweet, or Beverage dietary patterns. All ADHD symptom scores (Hyperactivity, Inattention and Impulsivity, and ADHD-index) correlated with increased Snacking. Impulsivity was inversely related to Sweet dietary patterns and positively to Beverage dietary patterns.Conclusion: The results highlight the importance of considering ADHD dimensions beyond diagnosis in understanding adolescents' dietary intake