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- de Rojas, I., et al.
(författare)
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Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
- 2021
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease. © 2021, The Author(s).
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| 2. |
- Dalmasso, MC, et al.
(författare)
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Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease
- 2019
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Ingår i: Translational psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 9:1, s. 55-
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Tidskriftsartikel (refereegranskat)abstract
- Rare coding variants in TREM2, PLCG2, and ABI3 were recently associated with the susceptibility to Alzheimer’s disease (AD) in Caucasians. Frequencies and AD-associated effects of variants differ across ethnicities. To start filling the gap on AD genetics in South America and assess the impact of these variants across ethnicity, we studied these variants in Argentinian population in association with ancestry. TREM2 (rs143332484 and rs75932628), PLCG2 (rs72824905), and ABI3 (rs616338) were genotyped in 419 AD cases and 486 controls. Meta-analysis with European population was performed. Ancestry was estimated from genome-wide genotyping results. All variants show similar frequencies and odds ratios to those previously reported. Their association with AD reach statistical significance by meta-analysis. Although the Argentinian population is an admixture, variant carriers presented mainly Caucasian ancestry. Rare coding variants in TREM2, PLCG2, and ABI3 also modulate susceptibility to AD in populations from Argentina, and they may have a European heritage.
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| 3. |
- Barbosa, Nubia E, et al.
(författare)
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Translation and cultural validation of clinical observational scales - the Fugl-Meyer assessment for post stroke sensorimotor function in Colombian Spanish.
- 2019
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Ingår i: Disability and rehabilitation. - : Informa UK Limited. - 1464-5165 .- 0963-8288. ; 41:19, s. 2317-2323
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Tidskriftsartikel (refereegranskat)abstract
- Fugl-Meyer Assessment (FMA) is the most widely used and recommended clinical scale for evaluation of sensorimotor impairment post stroke, but an official Spanish version is not available today. This study aimed to establish methodological structure for translation and cultural adaptation process and perform a transcultural validation of the upper and lower extremity FMA to Colombian Spanish.Procedures included forward and backward translation, step-wise reviewing by bilingual and professional experts to ensure conceptual and semantic equivalence. Validation included a pilot evaluation of item-level agreement on 10 individuals with stroke at the Central Military Hospital of Colombia.Comprehensive step-wise procedure for transcultural validation was established. Low agreement (less than 70%) was detected for items assessing arm movements within synergies and for coordination/speed subscale. All points of disagreement were systematically reviewed and agreed upon when drafting the final version of the Spanish FMA.Use of FMA will allow unified description of stroke severity and motor recovery in Spanish speaking countries. This will open up possibility to compare stroke and rehabilitation outcomes with other countries and regions world-wide. Comprehensive methodological procedures provided can facilitate introduction of well-established clinical scales in other languages. Implications for Rehabilitation The Fugl-Meyer Assessment (FMA) of upper and lower extremity is the most used and recommended clinical scale for evaluation of sensorimotor impairment after stroke. The Spanish version of FMA, validated in this study, is now first time available for use in research and clinical practice. Use of FMA will allow unified description of stroke severity and motor recovery in Spanish speaking countries, which in turn opens up possibility to compare stroke and rehabilitation outcomes with other countries and regions world-wide.
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| 4. |
- Hernandez, E. D., et al.
(författare)
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INTRA- AND INTER-RATER RELIABILITY OF FUGL-MEYER ASSESSMENT OF UPPER EXTREMITY IN STROKE
- 2019
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Ingår i: Journal of Rehabilitation Medicine. - : Medical Journals Sweden AB. - 1650-1977. ; 51:9, s. 652-659
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The Fugl-Meyer Assessment of Upper Extremity (FMA-UE) is recommended for evaluation of sensorimotor impairment post stroke, but the item-level reliability of the scale is unknown. This study aims to determine intra- and inter-rater reliability of the FMA-UE at item-, subscale- and total score level in patients with early subacute stroke. Design: Intra/inter-rater reliability. Subjects: Sixty consecutively included patients with stroke (mean age 65.9 years) admitted to Central Military Hospital of Colombia, Bogota. Methods: Two physiotherapists scored FMA-UE independently on 2 consecutive days within 10 days post stroke. A rank-based statistical method for paired ordinal data was used to assess the level of agreement, systematic and random disagreements. Results: Systematic disagreements either in position or concentration were detected in 4 items of the shoulder section. The item level intra- and inter-rater agreement was high (79-100%). The 70% agreement was also reached for the subscales and the total score when 1-3-point difference was accepted. Conclusion: The FMA-UE is reliable both within and between raters in patients with stroke in the early subacute phase. A wider international use of FMA-UE will allow comparison of stroke recovery between regions and countries and thereby potentially improve the quality of care and rehabilitation in persons with stroke worldwide.
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| 5. |
- Hernández, Edgar D, et al.
(författare)
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Intra- and interrater reliability of Fugl-Meyer Assessment of Lower Extremity early after stroke.
- 2021
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Ingår i: Brazilian journal of physical therapy. - : Elsevier BV. - 1809-9246 .- 1413-3555. ; 25:6, s. 709-718
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Tidskriftsartikel (refereegranskat)abstract
- The Fugl-Meyer Assessment of Lower Extremity (FMA-LE) is a widely used and recommended scale for evaluation of post-stroke motor impairment. However, the reliability of the scale has only been established by using parametric statistical methods, which ignores the ordinal properties of the scale.To determined intra- and inter-rater reliability of the FMA-LE at item and summed score level early after stroke.Sixty patients (mean age 65.9 years, median FMA-LE 29 points) admitted to the hospital due to stroke were included. The FMA-LE was simultaneously, but independently, scored by three experienced and trained physical therapists randomly assigned into pairs, on two consecutive days, between 4 to 9 days post stroke. A rank-based statistical method for paired ordinal data was used to assess the level of agreement and systematic and random disagreements.The item-level reliability was high (percentage of agreement [PA] ≥75%). Two items (ankle dorsiflexion during flexor synergy and normal reflex activity) showed some systematic disagreement in intrarater analysis. A satisfactory intrarater reliability (PA ≥70%) was reached for all summed scores when a 1- or 2-point difference was accepted between ratings.The FMA-LE is a reliable tool for assessment of motor impairment both within and between raters early after stroke. The scale can be recommended not only for use in Spanish speaking countries, but also internationally. A unified international use of FMA-LE would allow comparison of stroke recovery outcomes worldwide and thereby potentially improve the quality of stroke rehabilitation.
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| 10. |
- Nguyen, Hoang, 1989-, et al.
(författare)
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Variational inference for high dimensional structured factor copulas
- 2020
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Ingår i: Computational Statistics & Data Analysis. - : Elsevier. - 0167-9473 .- 1872-7352. ; 151
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Tidskriftsartikel (refereegranskat)abstract
- Factor copula models have been recently proposed for describing the joint distribution of a large number of variables in terms of a few common latent factors. A Bayesian procedure is employed in order to make fast inferences for multi-factor and structured factor copulas. To deal with the high dimensional structure, a Variational Inference (VI) algorithm is applied to estimate different specifications of factor copula models. Compared to the Markov Chain Monte Carlo (MCMC) approach, the variational approximation is much faster and could handle a sizeable problem in limited time. Another issue of factor copula models is that the bivariate copula functions connecting the variables are unknown in high dimensions. An automatic procedure is derived to recover the hidden dependence structure. By taking advantage of the posterior modes of the latent variables, the bivariate copula functions are selected by minimizing the Bayesian Information Criterion (BIC). Simulation studies in different contexts show that the procedure of bivariate copula selection could be very accurate in comparison to the true generated copula model. The proposed procedure is illustrated with two high dimensional real data sets.
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