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- Brugulat-Serrat, Anna, et al.
(författare)
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APOE -ε4 modulates the association between regional amyloid deposition and cognitive performance in cognitively unimpaired middle-aged individuals
- 2023
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Ingår i: EJNMMI Research. - : Springer Science and Business Media LLC. - 2191-219X. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To determine whether the APOE-ε4 allele modulates the relationship between regional β-amyloid (Aβ) accumulation and cognitive change in middle-aged cognitively unimpaired (CU) participants. Methods: The 352 CU participants (mean aged 61.1 [4.7] years) included completed two cognitive assessments (average interval 3.34 years), underwent [18F]flutemetamol Aβ positron emission tomography (PET), T1w magnetic resonance imaging (MRI), as well as APOE genotyping. Global and regional Aβ PET positivity was assessed across five regions-of-interest by visual reading (VR) and regional Centiloids. Linear regression models were developed to examine the interaction between regional and global Aβ PET positivity and APOE-ε4 status on longitudinal cognitive change assessed with the Preclinical Alzheimer’s Cognitive Composite (PACC), episodic memory, and executive function, after controlling for age, sex, education, cognitive baseline scores, and hippocampal volume. Results: In total, 57 participants (16.2%) were VR+ of whom 41 (71.9%) were APOE-ε4 carriers. No significant APOE-ε4*global Aβ PET interactions were associated with cognitive change for any cognitive test. However, APOE-ε4 carriers who were VR+ in temporal areas (n = 19 [9.81%], p = 0.04) and in the striatum (n = 8 [4.14%], p = 0.01) exhibited a higher decline in the PACC. The temporal areas findings were replicated when regional PET positivity was determined with Centiloid values. Regionally, VR+ in the striatum was associated with higher memory decline. As for executive function, interactions between APOE-ε4 and regional VR+ were found in temporal and parietal regions, and in the striatum. Conclusion: CU APOE-ε4 carriers with a positive Aβ PET VR in regions known to accumulate amyloid at later stages of the Alzheimer’s disease (AD) continuum exhibited a steeper cognitive decline. This work supports the contention that regional VR of Aβ PET might convey prognostic information about future cognitive decline in individuals at higher risk of developing AD. ClinicalTrials.gov Identifier: NCT02485730. Registered 20 June 2015 https://clinicaltrials.gov/ct2/show/NCT02485730 and ClinicalTrials.gov Identifier:NCT02685969. Registered 19 February 2016 https://clinicaltrials.gov/ct2/show/NCT02685969.
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| 3. |
- Hageman, Isabel C., et al.
(författare)
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A Quality Assessment of the ARM-Net Registry Design and Data Collection
- 2023
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Ingår i: Journal of Pediatric Surgery. - : Elsevier BV. - 0022-3468. ; 58:10, s. 1921-1928
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Tidskriftsartikel (refereegranskat)abstract
- Background: Registries are important in rare disease research. The Anorectal Malformation Network (ARM-Net) registry is a well-established European patient registry collecting demographic, clinical, and functional outcome data. We assessed the quality of this registry through review of the structure, data elements, collected data, and user experience. Material and methods: Design and data elements were assessed for completeness, consistency, usefulness, accuracy, validity, and comparability. An intra- and inter-user variability study was conducted through monitoring and re-registration of patients. User experience was assessed via a questionnaire on registration, design of registry, and satisfaction. Results: We evaluated 119 data elements, of which 107 were utilized and comprised 42 string and 65 numeric elements. A minority (37.0%) of the 2278 included records had complete data, though this improved to 83.5% when follow-up elements were excluded. Intra-observer variability demonstrated 11.7% incongruence, while inter-observer variability was 14.7%. Users were predominantly pediatric surgeons and typically registered patients within 11–30 min. Users did not experience any significant difficulties with data entry and were generally satisfied with the registry, but preferred more longitudinal data and patient-reported outcomes. Conclusions: The ARM-Net registry presents one of the largest ARM cohorts. Although its collected data are valuable, they are susceptible to error and user variability. Continuous evaluations are required to maintain relevant and high-quality data and to achieve long-term sustainability. With the recommendations resulting from this study, we call for rare disease patient registries to take example and aim to continuously improve their data quality to enhance the small, but impactful, field of rare disease research. Level of Evidence: V.
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| 4. |
- Mateu, Pau, et al.
(författare)
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Living Life Through Sport : The Transition of Elite Spanish Student-Athletes to a University Degree in Physical Activity and Sports Sciences
- 2020
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Ingår i: Frontiers in Psychology. - Lausanne : Frontiers Research Foundation. - 1664-1078. ; 11
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Tidskriftsartikel (refereegranskat)abstract
- Interest in studying the different transitions faced by elite athletes throughout their careers has grown significantly in recent years. While transition from secondary school to university is an important research area in Europe, there is a void of studies on how student-athletes experience the transition to specific degrees. One of the most sought-after university degrees among elite athletes in Spain is a degree in Physical Activity and Sport Sciences (PASS). The first aim of this study was to investigate the main demands, barriers, and resources perceived by elite student-athletes in various phases of dual career transition to a university degree in PASS. The second aim was to identify the transition pathways pursued depending on the subjective importance they attached to sport and education. Eleven elite student-athletes (Mage = 20.7, SD = 1.6 years) who were in their second and third year of the degree in PASS participated in semi-structured interviews. Deductive-inductive thematic analysis of the interview transcripts revealed three main themes: (a) general university transition issues, (b) PASS-specific transition issues, and (c) transition pathways. Our results show that the close link between sport and the content of the degree was perceived by the elite student-athletes as their main resource. This link, however, was also perceived as a major barrier as the compulsory practical subjects entailed a risk of injury or overtraining that could affect both athletic and academic development. We noticed how the importance they attached to sport or studies varied at different moments of the transition period, a phenomenon we termed “fluid transition pathways.†Dual career promotion for elite athletes is an important part of European sports policy, and our findings provide new knowledge that could help Spanish PASS faculties develop specific assistance programs to support transitioning student-athletes. © 2020 © 2020 Mateu, Inglés, Torregrossa, Marques, Stambulova and Vilanova.
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| 5. |
- Tan Nguyen, Khoa, 1982-
(författare)
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Supporting Quantitative Visual Analysis in Medicine and Biology in the Presence of Data Uncertainty
- 2014
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The advents of technologies have led to tremendous increases in the diversity and size of the available data. In the field of medicine, the advancements in medical imaging technologies have dramatically improved the quality of the acquired data, such as a higher resolution and higher signal-to-noise ratio. In addition, the dramatic reduction of the acquisition time has enabled the studies of organs under function.At the same pace, the progresses in the field of biology and bioinformatics have led to stable automatic algorithms for the generation of biological data. As the amount of the available data and the complexity increase, there have been great demands on efficient analysis and visualization techniques to support quantitative visual analysis of the huge amount of data that we are facing.This thesis aims at supporting quantitative visual analysis in the presence of data uncertainty within the context of medicine and biology. In this thesis, we present several novel analysis techniques and visual representations to achieve these goals. The results presented in this thesis cover a wide range of applications, which reflects the interdisciplinary nature of scientific visualization, as visualization is not for the sake of visualization. The advances in visualization enable the advances in other fields.In typical clinical applications or research scenarios, it is common to have data from different modalities. By combining the information from these data sources, we can achieve better quantitative analysis as well as visualization. Nevertheless, there are many challenges involved along the process such as the co-registration, differences in resolution, and signal-to-noise ratio. We propose a novel approach that uses light as an information transporter to address the challenges involved when dealing with multimodal data.When dealing with dynamic data, it is essential to identify features of interest across the time steps to support quantitative analyses. However, this is a time-consuming process and is prone to inconsistencies and errors. To address this issue, we propose a novel technique that enables an automatic tracking of identified features of interest across time steps in dynamic datasets.Although technological advances improve the accuracy of the acquired data, there are other sources of uncertainty that need to be taken into account. In this thesis, we propose a novel approach to fuse the derived uncertainty from different sophisticated algorithms in order to achieve a new set of outputs with a lower level of uncertainty. In addition, we also propose a novel visual representation that not only supports comparative visualization, but also conveys the uncertainty in the parameters of a complex system.Over past years, we have witnessed the rapid growth of available data in the field of biology. The sequence alignments of the top 20 protein domains and families have a large number of sequences, ranging from more than 70,000 to approximately 400,000 sequences. Consequently, it is difficult to convey features using the traditional representation. In this thesis, we propose a novel representation that facilitates the identification of gross trend patterns and variations in large-scale sequence alignment data.
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