38 research outputs found

    Lack of replication of higher genetic risk load in men than in women with systemic lupus erythematosus

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    Introduction: We aimed to replicate a recent study which showed higher genetic risk load at 15 loci in men than in women with systemic lupus erythematosus (SLE). This difference was very significant, and it was interpreted as indicating that men require more genetic susceptibility than women to develop SLE. Methods: Nineteen SLE-associated loci (thirteen of which are shared with the previous study) were analyzed in 1,457 SLE patients and 1,728 healthy controls of European ancestry. Genetic risk load was calculated as sex-specific sum genetic risk scores (GRS(s)). Results: Our results did not replicate those of the previous study at either the level of individual loci or the global level of GRS(s). GRS(s) were larger in women than in men (4.20 ± 1.07 in women vs. 3.27 ± 0.98 in men). This very significant difference (P < 10(-16)) was more dependent on the six new loci not included in the previous study (59% of the difference) than on the thirteen loci that are shared (the remaining 41%). However, the 13 shared loci also showed a higher genetic risk load in women than in men in our study (P = 6.6 × 10(-7)), suggesting that heterogeneity of participants, in addition to different loci, contributed to the opposite results. Conclusion: Our results show the lack of a clear trend toward higher genetic risk in one of the sexes for the analyzed SLE loci. They also highlight several limitations of assessments of genetic risk load, including the possibility of ascertainment bias with loci discovered in studies that have included mainly women

    Effect of the COVID-19 pandemic on surgery for indeterminate thyroid nodules (THYCOVID): a retrospective, international, multicentre, cross-sectional study

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    Background Since its outbreak in early 2020, the COVID-19 pandemic has diverted resources from non-urgent and elective procedures, leading to diagnosis and treatment delays, with an increased number of neoplasms at advanced stages worldwide. The aims of this study were to quantify the reduction in surgical activity for indeterminate thyroid nodules during the COVID-19 pandemic; and to evaluate whether delays in surgery led to an increased occurrence of aggressive tumours.Methods In this retrospective, international, cross-sectional study, centres were invited to participate in June 22, 2022; each centre joining the study was asked to provide data from medical records on all surgical thyroidectomies consecutively performed from Jan 1, 2019, to Dec 31, 2021. Patients with indeterminate thyroid nodules were divided into three groups according to when they underwent surgery: from Jan 1, 2019, to Feb 29, 2020 (global prepandemic phase), from March 1, 2020, to May 31, 2021 (pandemic escalation phase), and from June 1 to Dec 31, 2021 (pandemic decrease phase). The main outcomes were, for each phase, the number of surgeries for indeterminate thyroid nodules, and in patients with a postoperative diagnosis of thyroid cancers, the occurrence of tumours larger than 10 mm, extrathyroidal extension, lymph node metastases, vascular invasion, distant metastases, and tumours at high risk of structural disease recurrence. Univariate analysis was used to compare the probability of aggressive thyroid features between the first and third study phases. The study was registered on ClinicalTrials.gov, NCT05178186.Findings Data from 157 centres (n=49 countries) on 87 467 patients who underwent surgery for benign and malignant thyroid disease were collected, of whom 22 974 patients (18 052 [78 center dot 6%] female patients and 4922 [21 center dot 4%] male patients) received surgery for indeterminate thyroid nodules. We observed a significant reduction in surgery for indeterminate thyroid nodules during the pandemic escalation phase (median monthly surgeries per centre, 1 center dot 4 [IQR 0 center dot 6-3 center dot 4]) compared with the prepandemic phase (2 center dot 0 [0 center dot 9-3 center dot 7]; p&lt;0 center dot 0001) and pandemic decrease phase (2 center dot 3 [1 center dot 0-5 center dot 0]; p&lt;0 center dot 0001). Compared with the prepandemic phase, in the pandemic decrease phase we observed an increased occurrence of thyroid tumours larger than 10 mm (2554 [69 center dot 0%] of 3704 vs 1515 [71 center dot 5%] of 2119; OR 1 center dot 1 [95% CI 1 center dot 0-1 center dot 3]; p=0 center dot 042), lymph node metastases (343 [9 center dot 3%] vs 264 [12 center dot 5%]; OR 1 center dot 4 [1 center dot 2-1 center dot 7]; p=0 center dot 0001), and tumours at high risk of structural disease recurrence (203 [5 center dot 7%] of 3584 vs 155 [7 center dot 7%] of 2006; OR 1 center dot 4 [1 center dot 1-1 center dot 7]; p=0 center dot 0039).Interpretation Our study suggests that the reduction in surgical activity for indeterminate thyroid nodules during the COVID-19 pandemic period could have led to an increased occurrence of aggressive thyroid tumours. However, other compelling hypotheses, including increased selection of patients with aggressive malignancies during this period, should be considered. We suggest that surgery for indeterminate thyroid nodules should no longer be postponed even in future instances of pandemic escalation.Funding None.Copyright (c) 2023 Published by Elsevier Ltd. All rights reserved

    Reliability and Validity Across Existing Versions of the Modified Rankin Scale for Stroke: Systematic Review and Meta-Analysis

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    Background and aims: The Modified Rankin Scale (mRS) measures functional outcome after stroke. Aside the standard unstructured mRS, multiple structured versions of the scale exist. We aimed to summarize and compare inter-rater reliability (IRR) and validity of all available versions of mRS for stroke. Methods: Multidisciplinary databases were searched from December 2008 to June 2023, following prespecified inclusion criteria: adult human stroke participants, original data, psychometric properties of mRS evaluated. Two researchers independently reviewed abstracts, extracted data and conducted risk of bias analysis, using the COSMIN and GRRAS tools. Primary outcome variables for a random effects meta- analysis were IRR measured by kappa and weighted kappa (kw). Validity and inter-modality reliability measures (Spearman’s rho, kw) were summarized. Results: From the initial 897 titles, 281 abstracts were reviewed, and 32 studies met all inclusion criteria, resulting in 7309 stroke participants (57% males), age = 67.2(SD=3.77). There was a high risk of bias in five reliability and seven validity studies. Overall, the IRR was excellent (kw=0.84, 95%CI: 0.78 – 0.91). Across versions of the mRS, the IRR was highest for the Rankin Focused Assessment (RFA) (kw=0.99, 95%CI: 0.98 – 1), and lowest for the mRS decision tool (kw=0.68, 95%CI: 0.56 – 0.79). Validity ranged from poor to excellent, with an excellent overall concurrent validity of structured scales with the standard mRS (kw=0.86, 95%CI: 0.75 – 0.97). Conclusions: The mRS has an excellent IRR overall. However, validity and reliability vary across different versions of the scale with more recent structured scales being more reliable than the standard mR

    Toward an Efficient, Relevant, and Robust Assessment of Independence in Activities of Daily Living

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    Background and aims: Assessment of independence in extended Activities of Daily Living (ADLs) is integral to stroke research and practice. Patient Reported Outcome Measures (PROMs) including the Nottingham Extended Activities of Daily Living (NEADL) have previously been criticized for the number of items and their lack of contemporary relevance. Methods: To address this issue, we designed a program of work with three strands: Work Package (WP) 1 utilized data from 722 stroke survivors at 6 months post stroke to derive a short form NEADL (SF-NEADL) and evaluate its psychometric properties. An online survey of 2244 participants for WP2 captured the frequency with which older adults perform tasks included in common ADL scales and identify common omitted tasks. The ongoing survey for WP3 aims to further validate the SF-NEADL and additional contemporary tasks with common ADL and Quality of Life scales. Results: WP1 data led to the derivation of a 5-item SF-NEADL capturing mobility and kitchen items with good internal constancy (α .863), a very strong relationship with the NEADL (.944), strong convergent validity with both the Barthel Index (.787), and the Modified Rankin Scale (-.656). WP2 identified multiple redundant ADL scale tasks and common omitted tasks, including online banking and shopping. Conclusions: WP1 introduces a robust tool for efficient and valid assessment of stroke survivors’ perceived independence in extended ADLs. WP2 emphasizes redundant tasks included in ADL scales and emerging tasks of daily living. Feedback from participants highlights the need for robust ADL tools containing items of contemporary relevance

    Stroke-specific Virtual Assistant as a Companion in Recovery

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    Background and aims: RES-Q+ project partners have been developing a virtual assistant (VA) for stroke survivors, their families, and caregivers. The primary purpose of the VA is to provide users with quality assured information in response to common questions regarding stroke. The VA also aims to allow users to check in on their mental wellbeing, functional recovery and rehabilitation progress. Methods: Interviews and focus groups were conducted with stroke survivors and their families and caregivers in Scotland, Northern Ireland, Denmark, and the Czech Republic. Overall, 30 stroke survivors across 15 interviews interacted with the VA and answered Patient Recorded Outcome Measures on the VA interface and in a human interview. The corpus of 35 sessions with 40 participants was transcribed verbatim by the partner teams. Thematic analysis identified key overarching themes of barriers to using the VA, its relative advantages compared to human check-ins, and perceptions of the VA as a human-like companion. Results: Barriers to use included lack of familiarity and comfort with technology, and scepticism toward information found online. The VA’s relative advantages included increased ease of access and comfort around sensitive topics compared to conversations with humans. Perceptions of the VA as a human-like companion emerged as participants used human terms to describe its role as an additional, trustworthy and personable source of information and support, rather than a replacement to resource-intensive human check-ins. Conclusions: Our findings highlight the need of stroke survivors for an additional, readily available, and trustworthy source of support post discharge
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