1. |
- de Rojas, I., et al.
(author)
-
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
- 2021
-
In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
-
Journal article (peer-reviewed)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).
|
|
2. |
- Hernández, Edgar D, et al.
(author)
-
Intra- and interrater reliability of Fugl-Meyer Assessment of Lower Extremity early after stroke.
- 2021
-
In: Brazilian journal of physical therapy. - : Elsevier BV. - 1809-9246 .- 1413-3555. ; 25:6, s. 709-718
-
Journal article (peer-reviewed)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.
|
|