92 research outputs found
Personalized Tourist Route Generation
When tourists are at a destination, they typically search for information in the Local Tourist Organizations. There, the staff determines the profile of the tourists and their restrictions. Combining this information with their up-to-date knowledge about the local attractions and public transportation, they suggest a personalized route for the tourist agenda. Finally, they fine tune up this route to better fit tourists' needs. We present an intelligent routing system to fulfil the same task. We divide this process in three steps: recommendation, route generation and route customization. We focus on the last two steps and analyze them. We model the tourist planning problem, integrating public transportation, as the Time Dependent Team Orienteering Problem with Time Windows (TDTOPTW) and we present an heuristic able to solve it on real-time. Finally, we show the prototype which generates and customizes routes in real-time
Perovskite-Inspired Photovoltaic Materials: Toward Best Practices in Materials Characterization and Calculations
Recently, there has been an explosive growth in research based on hybrid lead–halide perovskites for photovoltaics owing to rapid improvements in efficiency. The advent of these materials for solar applications has led to widespread interest in understanding the key enabling properties of these materials. This has resulted in renewed interest in related compounds and a search for materials that may replicate the defect-tolerant properties and long lifetimes of the hybrid lead-halide perovskites. Given the rapid pace of development of the field, the rises in efficiencies of these systems have outpaced the more basic understanding of these materials. Measuring or calculating the basic properties, such as crystal/electronic structure and composition, can be challenging because some of these materials have anisotropic structures, and/or are composed of both heavy metal cations and volatile, mobile, light elements. Some consequences are beam damage during characterization, composition change under vacuum, or compound effects, such as the alteration of the electronic structure through the influence of the substrate. These effects make it challenging to understand the basic properties integral to optoelectronic operation. Compounding these difficulties is the rapid pace with which the field progresses. This has created an ongoing need to continually evaluate best practices with respect to characterization and calculations, as well as to identify inconsistencies in reported values to determine if those inconsistencies are rooted in characterization methodology or materials synthesis. This article describes the difficulties in characterizing hybrid lead–halide perovskites and new materials and how these challenges may be overcome. The topic was discussed at a seminar at the 2015 Materials Research Society Fall Meeting & Exhibit. This article highlights the lessons learned from the seminar and the insights of some of the attendees, with reference to both recent literature and controlled experiments to illustrate the challenges discussed. The focus in this article is on crystallography, composition measurements, photoemission spectroscopy, and calculations on perovskites and new, related absorbers. We suggest how the reporting of the important artifacts could be streamlined between groups to ensure reproducibility as the field progresses
Author Correction: Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)
Correction to: npj Parkinson’s Disease, published online 27 June 2023 In this article the Global Parkinson’s Genetics Program (GP2) members names and affiliations were missing in the main author list of the Original article which are listed in the below
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Background: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. Objective: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. Methods: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype–phenotype relationships were analyzed. Results: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. Conclusions: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene-targeted clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson\u27s disease study
\ua9 The Author(s) 2024. Estimates of the spectrum and frequency of pathogenic variants in Parkinson’s disease (PD) in different populations are currently limited and biased. Furthermore, although therapeutic modification of several genetic targets has reached the clinical trial stage, a major obstacle in conducting these trials is that PD patients are largely unaware of their genetic status and, therefore, cannot be recruited. Expanding the number of investigated PD-related genes and including genes related to disorders with overlapping clinical features in large, well-phenotyped PD patient groups is a prerequisite for capturing the full variant spectrum underlying PD and for stratifying and prioritizing patients for gene-targeted clinical trials. The Rostock Parkinson’s disease (ROPAD) study is an observational clinical study aiming to determine the frequency and spectrum of genetic variants contributing to PD in a large international cohort. We investigated variants in 50 genes with either an established relevance for PD or possible phenotypic overlap in a group of 12 580 PD patients from 16 countries [62.3% male; 92.0% White; 27.0% positive family history (FH+), median age at onset (AAO) 59 years] using a next-generation sequencing panel. Altogether, in 1864 (14.8%) ROPAD participants (58.1% male; 91.0% White, 35.5% FH+, median AAO 55 years), a PD-relevant genetic test (PDGT) was positive based on GBA1 risk variants (10.4%) or pathogenic/likely pathogenic variants in LRRK2 (2.9%), PRKN (0.9%), SNCA (0.2%) or PINK1 (0.1%) or a combination of two genetic findings in two genes (∼0.2%). Of note, the adjusted positive PDGT fraction, i.e. the fraction of positive PDGTs per country weighted by the fraction of the population of the world that they represent, was 14.5%. Positive PDGTs were identified in 19.9% of patients with an AAO ≤ 50 years, in 19.5% of patients with FH+ and in 26.9% with an AAO ≤ 50 years and FH+. In comparison to the idiopathic PD group (6846 patients with benign variants), the positive PDGT group had a significantly lower AAO (4 years, P = 9
7 10−34). The probability of a positive PDGT decreased by 3% with every additional AAO year (P = 1
7 10−35). Female patients were 22% more likely to have a positive PDGT (P = 3
7 10−4), and for individuals with FH+ this likelihood was 55% higher (P = 1
7 10−14). About 0.8% of the ROPAD participants had positive genetic testing findings in parkinsonism-, dystonia/dyskinesia- or dementia-related genes. In the emerging era of gene-targeted PD clinical trials, our finding that ∼15% of patients harbour potentially actionable genetic variants offers an important prospect to affected individuals and their families and underlines the need for genetic testing in PD patients. Thus, the insights from the ROPAD study allow for data-driven, differential genetic counselling across the spectrum of different AAOs and family histories and promote a possible policy change in the application of genetic testing as a routine part of patient evaluation and care in PD
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