35 research outputs found
Phosphorylated TDP-43 aggregates in peripheral motor nerves of patients with amyotrophic lateral sclerosis
Contribution to the floristic knowledge of Mount Pennino massif (Umbria-Marche Apennines, central Italy)
The inventory of the taxa collected in 2021 during the annual field trip of the Working Group for Floristics,
Systematics, and Evolution of the Italian Botanical Society is reported. The field trip was held
in the Mount Pennino massif, between Umbria and Marche administrative regions (central Italy). Theflora documented for the study area amounts to 413 specific and subspecific taxa (including one hybrid),
belonging to 234 genera and 64 families. Thirty-seven taxa are endemic to Italy; 42 are included in the
IUCN Red List of the Italian Flora. Only three alien taxa were found. Ten taxa and one hybrid are considered
floristic novelties because either new or confirmed for the regional flora of Umbria and/or Marche.
Particularly, 6 taxa are new and 4 are confirmed for Umbria; one taxon and one hybrid are new for Marche
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data
: Repeat expansions in the C9orf72 gene are the most common genetic cause of (ALS) and frontotemporal dementia (FTD). Like other genetic forms of neurodegeneration, pinpointing the precise mechanism(s) by which this mutation leads to neuronal death remains elusive, and this lack of knowledge hampers the development of therapy for C9orf72-related disease. We used an agnostic approach based on genomic data (n = 41,273 ALS and healthy samples, and n = 1,516 C9orf72 carriers) to overcome these bottlenecks. Our drug-repurposing screen, based on gene- and expression-pattern matching and information about the genetic variants influencing onset age among C9orf72 carriers, identified acamprosate, a γ-aminobutyric acid analog, as a potentially repurposable treatment for patients carrying C9orf72 repeat expansions. We validated its neuroprotective effect in cell models and showed comparable efficacy to riluzole, the current standard of care. Our work highlights the potential value of genomics in repurposing drugs in situations where the underlying pathomechanisms are inherently complex. VIDEO ABSTRACT
Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis
Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.
Objective To identify the genetic variants associated with juvenile ALS.
Design, Setting, and Participants In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism.
Main Outcomes and Measures De novo variants present only in the index case and not in unaffected family members.
Results Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.
Conclusions and Relevance These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene
Rilievo fotogrammetrico e visualizzazione in autostereoscopia di piccole sculture. La Venere di Frasassi come pilot-case per i Musei Archeologici
La valorizzazione dell’archeologia necessita di nuovi strumenti per l’acquisizione 3D. L’articolo presenta un workflow per la digitalizzazione di piccoli reperti archeologici finalizzati al contesto museale. La principale novità è costituita dall’impiego di un monitor 3D autostereoscopico. Ricerche come queste mirano a superare alcune difficoltà proprie dei musei archeologici nel coinvolgimento dei visitatori, attraverso l’uso di repliche virtuali
Mapping Mediterranean Forest Plant Associations and Habitats with Functional Principal Component Analysis Using Landsat 8 NDVI Time Series
The classification of plant associations and their mapping play a key role in defining habitat biodiversity management, monitoring, and conservation strategies. In this work we present a methodological framework to map Mediterranean forest plant associations and habitats that relies on the application of the Functional Principal Component Analysis (FPCA) to the remotely sensed Normalized Difference Vegetation Index (NDVI) time series. FPCA, considering the chronological order of the data, reduced the NDVI time series data complexity and provided (as FPCA scores) the main seasonal NDVI phenological variations of the forests. We performed a supervised classification of the FPCA scores combined with topographic and lithological features of the study area to map the forest plant associations. The supervised mapping achieved an overall accuracy of 87.5%. The FPCA scores contributed to the global accuracy of the map much more than the topographic and lithological features. The results showed that (i) the main seasonal phenological variations (FPCA scores) are effective spatial predictors to obtain accurate plant associations and habitat maps; (ii) the FPCA is a suitable solution to simultaneously express the relationships between remotely sensed and ecological field data, since it allows us to integrate these two different perspectives about plant associations in a single graph. The proposed approach based on the FPCA is useful for forest habitat monitoring, as it can contribute to produce periodically detailed vegetation-based habitat maps that reflect the "current" status of vegetation and habitats, also supporting the study of plant associations
Functional Analysis for Habitat Mapping in a Special Area of Conservation Using Sentinel-2 Time-Series Data
The mapping and monitoring of natural and semi-natural habitats are crucial activities and are regulated by European policies and regulations, such as the 92/43/EEC. In the Mediterranean area, which is characterized by high vegetational and environmental diversity, the mapping and monitoring of habitats are particularly difficult and often exclusively based on in situ observations. In this scenario, it is necessary to automate the generation of updated maps to support the decisions of policy makers. At present, the availability of high spatiotemporal resolution data provides new possibilities for improving the mapping and monitoring of habitats. In this work, we present a methodology that, starting from remotely sensed time-series data, generates habitat maps using supervised classification supported by Functional Data Analysis. We constructed the methodology using Sentinel-2 data in the Mediterranean Special Area of Conservation “Gola di Frasassi” (Code: IT5320003). In particular, the training set uses 308 field plots with 11 target classes (five forests, two shrubs, one grassland, one mosaic, one extensive crop, and one urban land). Starting from vegetation index time-series data, Functional Principal Component Analysis was applied to derive FPCA scores and components. In particular, in the classification stage, the FPCA scores are considered as features. The obtained results out-performed a previous map derived from photo-interpretation by domain experts. We obtained an overall accuracy of 85.58% using vegetation index time-series, topography, and lithology data. The main advantages of the proposed approach are the capability to efficiently compress high dimensional data (dense remote-sensing time series) providing results in a compact way (e.g., FPCA scores and mean seasonal time profiles) that: (i) facilitate the link between remote sensing with habitat mapping and monitoring and their ecological interpretation and (ii) could be complementary to species-based approaches in plant community ecology and phytosociology.</jats:p
Functional Analysis for Habitat Mapping in a Special Area of Conservation Using Sentinel-2 Time-Series Data
The mapping and monitoring of natural and semi-natural habitats are crucial activities and are regulated by European policies and regulations, such as the 92/43/EEC. In the Mediterranean area, which is characterized by high vegetational and environmental diversity, the mapping and monitoring of habitats are particularly difficult and often exclusively based on in situ observations. In this scenario, it is necessary to automate the generation of updated maps to support the decisions of policy makers. At present, the availability of high spatiotemporal resolution data provides new possibilities for improving the mapping and monitoring of habitats. In this work, we present a methodology that, starting from remotely sensed time-series data, generates habitat maps using supervised classification supported by Functional Data Analysis. We constructed the methodology using Sentinel-2 data in the Mediterranean Special Area of Conservation “Gola di Frasassi” (Code: IT5320003). In particular, the training set uses 308 field plots with 11 target classes (five forests, two shrubs, one grassland, one mosaic, one extensive crop, and one urban land). Starting from vegetation index time-series data, Functional Principal Component Analysis was applied to derive FPCA scores and components. In particular, in the classification stage, the FPCA scores are considered as features. The obtained results out-performed a previous map derived from photo-interpretation by domain experts. We obtained an overall accuracy of 85.58% using vegetation index time-series, topography, and lithology data. The main advantages of the proposed approach are the capability to efficiently compress high dimensional data (dense remote-sensing time series) providing results in a compact way (e.g., FPCA scores and mean seasonal time profiles) that: (i) facilitate the link between remote sensing with habitat mapping and monitoring and their ecological interpretation and (ii) could be complementary to species-based approaches in plant community ecology and phytosociology
Evaluation and Selection of Multi-Spectral Indices to Classify Vegetation Using Multivariate Functional Principal Component Analysis
The identification, classification and mapping of different plant communities and habitats is of fundamental importance for defining biodiversity monitoring and conservation strategies. Today, the availability of high temporal, spatial and spectral data from remote sensing platforms provides dense time series over different spectral bands. In the case of supervised mapping, time series based on classical vegetation indices (e.g., NDVI, GNDVI, …) are usually input characteristics, but the selection of the best index or set of indices (which guarantees the best performance) is still based on human experience and is also influenced by the study area. In this work, several different time series, based on Sentinel-2 images, were created exploring new combinations of bands that extend the classic basic formulas as the normalized difference index. Multivariate Functional Principal Component Analysis (MFPCA) was used to contemporarily decompose the multiple time series. The principal multivariate seasonal spectral variations identified (MFPCA scores) were classified by using a Random Forest (RF) model. The MFPCA and RF classifications were nested into a forward selection strategy to identify the proper and minimum set of indices’ (dense) time series that produced the most accurate supervised classification of plant communities and habitat. The results we obtained can be summarized as follows: (i) the selection of the best set of time series is specific to the study area and the habitats involved; (ii) well-known and widely used indices such as the NDVI are not selected as the indices with the best performance; instead, time series based on original indices (in terms of formula or combination of bands) or underused indices (such as those derivable with the visible bands) are selected; (iii) MFPCA efficiently reduces the dimensionality of the data (multiple dense time series) providing ecologically interpretable results representing an important tool for habitat modelling outperforming conventional approaches that consider only discrete time series
Mapping Mediterranean Forest Plant Associations and Habitats with Functional Principal Component Analysis Using Landsat 8 NDVI Time Series
The classification of plant associations and their mapping play a key role in defining habitat biodiversity management, monitoring, and conservation strategies. In this work we present a methodological framework to map Mediterranean forest plant associations and habitats that relies on the application of the Functional Principal Component Analysis (FPCA) to the remotely sensed Normalized Difference Vegetation Index (NDVI) time series. FPCA, considering the chronological order of the data, reduced the NDVI time series data complexity and provided (as FPCA scores) the main seasonal NDVI phenological variations of the forests. We performed a supervised classification of the FPCA scores combined with topographic and lithological features of the study area to map the forest plant associations. The supervised mapping achieved an overall accuracy of 87.5%. The FPCA scores contributed to the global accuracy of the map much more than the topographic and lithological features. The results showed that (i) the main seasonal phenological variations (FPCA scores) are effective spatial predictors to obtain accurate plant associations and habitat maps; (ii) the FPCA is a suitable solution to simultaneously express the relationships between remotely sensed and ecological field data, since it allows us to integrate these two different perspectives about plant associations in a single graph. The proposed approach based on the FPCA is useful for forest habitat monitoring, as it can contribute to produce periodically detailed vegetation-based habitat maps that reflect the “current” status of vegetation and habitats, also supporting the study of plant associations.</jats:p
