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- Johnson, J. S., et al.
(author)
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Mapping anorexia nervosa genes to clinical phenotypes
- 2023
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In: Psychological Medicine. - : Cambridge University Press (CUP). - 0033-2917 .- 1469-8978. ; 53:6, s. 2619-2633
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Journal article (peer-reviewed)abstract
- Background Anorexia nervosa (AN) is a psychiatric disorder with complex etiology, with a significant portion of disease risk imparted by genetics. Traditional genome-wide association studies (GWAS) produce principal evidence for the association of genetic variants with disease. Transcriptomic imputation (TI) allows for the translation of those variants into regulatory mechanisms, which can then be used to assess the functional outcome of genetically regulated gene expression (GReX) in a broader setting through the use of phenome-wide association studies (pheWASs) in large and diverse clinical biobank populations with electronic health record phenotypes. Methods Here, we applied TI using S-PrediXcan to translate the most recent PGC-ED AN GWAS findings into AN-GReX. For significant genes, we imputed AN-GReX in the Mount Sinai BioMe (TM) Biobank and performed pheWASs on over 2000 outcomes to test the clinical consequences of aberrant expression of these genes. We performed a secondary analysis to assess the impact of body mass index (BMI) and sex on AN-GReX clinical associations. Results Our S-PrediXcan analysis identified 53 genes associated with AN, including what is, to our knowledge, the first-genetic association of AN with the major histocompatibility complex. AN-GReX was associated with autoimmune, metabolic, and gastrointestinal diagnoses in our biobank cohort, as well as measures of cholesterol, medications, substance use, and pain. Additionally, our analyses showed moderation of AN-GReX associations with measures of cholesterol and substance use by BMI, and moderation of AN-GReX associations with celiac disease by sex. Conclusions Our BMI-stratified results provide potential avenues of functional mechanism for AN-genes to investigate further.
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- Sterling, M., et al.
(author)
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Recommendations for a core outcome measurement set for clinical trials in whiplash associated disorders
- 2023
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In: Pain. - : NLM (Medline). - 0304-3959 .- 1872-6623. ; 164:10, s. 2265-2272
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Journal article (peer-reviewed)abstract
- ABSTRACT: Inconsistent reporting of outcomes in clinical trials of treatments for whiplash associated disorders (WAD) hinders effective data pooling and conclusions about treatment effectiveness. A multidisciplinary International Steering Committee recently recommended 6 core outcome domains: Physical Functioning, Perceived Recovery, Work and Social Functioning, Psychological Functioning, Quality of Life and Pain. This study aimed to reach consensus and recommend a core outcome set (COS) representing each of the 6 domains. Forty-three patient-reported outcome measures (PROMs) were identified for Physical Functioning, 2 for perceived recovery, 37 for psychological functioning, 17 for quality of life, and 2 for pain intensity. They were appraised in 5 systematic reviews following COSMIN methodology. No PROMs of Work and Social Functioning in WAD were identified. No PROMs had undergone evaluation of content validity in patients with WAD, but some had moderate-to-high-quality evidence for sufficient internal structure. Based on these results, the International Steering Committee reached 100% consensus to recommend the following COS: Neck Disability Index or Whiplash Disability Questionnaire (Physical Functioning), the Global Rating of Change Scale (Perceived Recovery), one of the Pictorial Fear of Activity Scale-Cervical, Pain Self-Efficacy Questionnaire, Pain Catastrophizing Scale, Harvard Trauma Questionnaire, or Posttraumatic Diagnostic Scale (Psychological Functioning), EQ-5D-3L or SF-6D (Quality of Life), numeric pain rating scale or visual analogue scale (Pain), and single-item questions pertaining to current work status and percent of usual work (Work and Social Functioning). These recommendations reflect the current status of research of PROMs of the 6 core outcome domains and may be modified as evidence grows.
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- Côté, Marianne, et al.
(author)
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Towards modeling data-poor lakes at the regional scale using parameters from data-rich lakes and relationships to lake characteristics
- 2023
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In: Inland Waters. - : Taylor & Francis. - 2044-2041 .- 2044-205X. ; 13:3, s. 388-401
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Journal article (peer-reviewed)abstract
- Lakes pivotal for recreation and economically relevant activities are often remote and not well studied, which hinders the application of predictive lake models for their management. Here, we provide an approach to simulate—by means of the process-oriented model MyLake—water temperature, ice cover duration, dissolved oxygen, and light attenuation in 198 data-poor lakes based on parameters obtained for a subgroup of 12 data-rich lakes and morphometric data. Specifically, the model is first calibrated using a genetic algorithm on well-studied lakes. Simple relationships between the fitted parameters and lake-catchment morphometric properties are then derived, and the results of simulations using fitted and derived parameters are compared. The loss in goodness-of-fit, expressed as root mean square error (RMSE) incurred by using estimated rather than calibrated parameters, is 0.17 °C for water temperature and 0.82 mg L−1 for dissolved oxygen. These general relationships are then used to provide the model parameters for 198 data-poor lakes distributed throughout Sweden and to model these lakes. Overall, this proof of concept allows simulating lakes selected based on their relevance for lake management rather than based on the availability of extensive field datasets.
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- Paramasivam, Abinethaa, et al.
(author)
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The International Classification of Functioning, Disability and Health Core Set for deafblindness. Part I : a systematic review of outcome measures
- 2023
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In: European Journal of Physical and Rehabilitation Medicine. - : Edizioni Minerva Medica. - 1973-9087 .- 1973-9095. ; 59:5, s. 615-627
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Research review (peer-reviewed)abstract
- INTRODUCTION: The International Classification of Functioning, Disability, and Health (ICF), developed by the World Health Organization, is a classification framework that focuses on the health and functioning of people with disabilities. As part of an ICF Core Set development, four studies need to be conducted, one of which is a systematic review. This study presents part 1 of the systematic review that aims to describe the outcome measures identified in the literature related to functioning in individuals with deafblindness. EVIDENCE ACQUISITION: The research team screened articles from eight scientific databases, three journals, and Google Scholar (March 2011 to September 2022). Articles were included if they studied individuals with deafblindness aged 18 and older. Studies that examined genetics or laboratory experiments involving animals were excluded. Data were extracted into a logbook with key descriptors such as study location and design, age of study population, and instruments/outcome measures used, which were further categorized into one of the following types: 1) standardized; 2) patient-reported measures, standardized (PT-S); 3) patient-reported measures, not standardized (PT-not S); 4) health professional, reported measures, standardized (HP-S); 5) Technical measures; 6) other measures (parent-reported standardized and laboratory measures).EVIDENCE SYNTHESIS: The review included 147 studies, of which most were conducted in Europe (47.6%) and North America (27.9%). Of the 314 identified outcome measures, 57 were Standardized, 59 were Patient Reported-Standardized (PT-S), 178 were patient reported non-standardized (PT-Not S) variables, 11 were health professional reported, standardized, five were technical, and four were classified as other measures.CONCLUSIONS: Most instruments measured functioning in daily activities and the mental health of individuals with deafblindness. Three deafblind-specific instruments were identified in this study, highlighting the need for more deafblind-specific instruments to be developed and utilized in research.
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