Carbon dioxide fluxes in Alpine grasslands at the Nivolet Plain, Gran Paradiso National Park, Italy 2017-2023.

We introduce a georeferenced dataset of Net Ecosystem Exchange (NEE), Ecosystem Respiration (ER) and meteo-climatic variables (air and soil temperature, air relative humidity, soil volumetric water content, pressure, and solar irradiance) collected at the Nivolet Plain in Gran Paradiso National Park (GPNP), western Italian Alps, from 2017 to 2023. NEE and ER are derived by measuring the temporal variation of CO2 concentration obtained by the enclosed chamber method. We used a customised portable non-steady-state dynamic flux chamber, paired with an InfraRed Gas Analyser (IRGA) and a portable weather station, measuring CO2 fluxes at a number of points (around 20 per site and per day) within five different sites during the snow-free season (June to October). Sites are located within the same hydrological basin and have different geological substrates: carbonate rocks (site CARB), gneiss (GNE), glacial deposits (GLA, EC), alluvial sediments (AL). This dataset provides relevant and often missing information on high-altitude mountain ecosystems and enables new comparisons with other similar sites, modelling developments and validation of remote sensing data.

Spatial and temporal variability of carbon dioxide fluxes in the Alpine Critical Zone: The case of the Nivolet Plain, Gran Paradiso National Park, Italy.

The dynamics of carbon dioxide fluxes in the high-altitude Alpine Critical Zone is only partially understood. The complex geomorphology induces significant spatial heterogeneity, and a strong interannual variability is present in the often-extreme climatic and environmental conditions of Alpine ecosystems. To explore the relative importance of the spatial and temporal variability of CO2 fluxes, we analysed a set of in-situ measurements obtained during the summers from 2018 to 2021 in four sampling plots, characterised by soils with different underlying bedrock within the same watershed in the Nivolet plain, in the Gran Paradiso National Park, western Italian Alps. Multi-regression models of CO2 emission and uptake were built using measured meteo-climatic and environmental variables considering either individual years (aggregating over plots) or individual plots (aggregating over years). We observed a significant variability of the model parameters across the different years, while such variability was much smaller across different plots. Significant changes between the different years mainly concerned the temperature dependence of respiration (CO2 emission) and the light dependence of photosynthesis (CO2 uptake). These results suggest that spatial upscaling can be obtained from site measurements, but long-term flux monitoring is required to properly capture the temporal variability at interannual scales.

Climate data sonification and visualization: An analysis of topics, aesthetics, and characteristics in 32 recent projects.

Introduction: It has proven a hard challenge to stimulate climate action with climate data. While scientists communicate through words, numbers, and diagrams, artists use movement, images, and sound. Sonification, the translation of data into sound, and visualization, offer techniques for representing climate data with often innovative and exciting results. The concept of sonification was initially defined in terms of engineering, and while this view remains dominant, researchers increasingly make use of knowledge from electroacoustic music (EAM) to make sonifications more convincing. Methods: The Aesthetic Perspective Space (APS) is a two-dimensional model that bridges utilitarian-oriented sonification and music. We started with a review of 395 sonification projects, from which a corpus of 32 that target climate change was chosen; a subset of 18 also integrate visualization of the data. To clarify relationships with climate data sources, we determined topics and subtopics in a hierarchical classification. Media duration and lexical diversity in descriptions were determined. We developed a protocol to span the APS dimensions, Intentionality and Indexicality, and evaluated its circumplexity. Results: We constructed 25 scales to cover a range of qualitative characteristics applicable to sonification and sonification-visualization projects, and through exploratory factor analysis, identified five essential aspects of the project descriptions, labeled Action, Technical, Context, Perspective, and Visualization. Through linear regression modeling, we investigated the prediction of aesthetic perspective from essential aspects, media duration, and lexical diversity. Significant regressions across the corpus were identified for Perspective (ß = 0.41***) and lexical diversity (ß = -0.23*) on Intentionality, and for Perspective (ß = 0.36***) and Duration (logarithmic; ß = -0.25*) on Indexicality. Discussion: We discuss how these relationships play out in specific projects, also within the corpus subset that integrated data visualization, as well as broader implications of aesthetics on design techniques for multimodal representations aimed at conveying scientific data. Our approach is informed by the ongoing discussion in sound design and auditory perception research communities on the relationship between sonification and EAM. Through its analysis of topics, qualitative characteristics, and aesthetics across a range of projects, our study contributes to the development of empirically founded design techniques, applicable to climate science communication and other fields.

Scale of plume clustering in large-Prandtl-number convection.

Clustering of plumes in turbulent Rayleigh-Bénard convection has been numerically observed in low-Prandtl-number fluids. In this framework, turbulent plumes undergo a phase-separation process leading to large-scale clusters and circulations, sometimes called plume superstructures and reminiscent of solar granulation and supergranulation. On the other hand, the possible presence of large-scale plume aggregates has not been explored in the case of large values of the Prandtl number, Pr, relevant to geological settings such as convection in planetary interiors. Here we address this problem and numerically explore the behavior of plume ensembles in turbulent convection at very high Prandtl number values, including the case Pr→∞. The results indicate the presence of plume clustering, albeit at smaller scale, also for large Pr number fluids, suggesting interesting consequences for mantle convection processes.

Neural substrates of neuropsychological profiles in dystrophynopathies: A pilot study of diffusion tractography imaging.

INTRODUCTION: Cognitive difficulties and neuropsychological alterations in Duchenne and Becker muscular dystrophy (DMD, BMD) boys are not yet sufficiently explored, although this topic could have a relevant impact, finding novel biomarkers of disease both at genetics and neuroimaging point of view. The current study aims to: 1) analyze the neuropsychological profile of a group of DMD and BMD boys without cognitive impairment with an assessment of their executive functions; 2) explore the structural connectivity in DMD, BMD, and age-matched controls focusing on cortico-subcortical tracts that connect frontal cortex, basal ganglia, and cerebellum via the thalamus; 3) explore possible correlations between altered structural connectivity and clinical neuropsychological measures. MATERIALS AND METHODS: This pilot study included 15 boys (5 DMD subjects, 5 BMD subjects, and 5 age-matched typically developing, TD). They were assessed using a neuropsychological assessment protocol including cognitive and executive functioning assessment and performed a 1.5T MRI brain exam including advance Diffusion Weighted Imaging (DWI) method for tractography. Structural connectivity measurements were extracted along three specific tracts: Cortico-Ponto-Cerebellar Tract (CPCT), Cerebellar-Thalamic Tract (CTT), and Superior Longitudinal Fasciculus (SLF). Cortical-Spinal Tract (CST) was selected for reference, as control tract. RESULTS: Regarding intellectual functioning, a major impairment in executive functions compared to the general intellectual functioning was observed both for DMD (mean score = 86.20; SD = 11.54) and for BMD children (mean score = 88; SD = 3.67). Mean FA resulted tendentially always lower in DMD compared to both BMD and TD groups for all the examined tracts. The differences in FA were statistically significant for the right CTT (DMD vs BMD, p = 0.002, and DMD vs TD, p = 0.0015) and the right CPCT (DMD vs TD, p = 0.008). Concerning DMD, significant correlations emerged between FA-R-CTT and intellectual quotients (FIQ, p = 0.044; ρs = 0.821), and executive functions (Denomination Total, p = 0.044, ρs = 0.821; Inhibition Total, p = 0.019, ρs = 0.900). BMD showed a significant correlation between FA-R-CPCT and working memory index (p = 0.007; ρs = 0.949). DISCUSSION AND CONCLUSION: In this pilot study, despite the limitation of sample size, the findings support the hypothesis of the involvement of a cerebellar-thalamo-cortical loop for the neuropsychological profile of DMD, as the CTT and the CPCT are involved in the network and the related brain structures are known to be implied in executive functions. Our results suggest that altered WM connectivity and reduced fibre organization in cerebellar tracts, probably due to the lack of dystrophin in the brain, may render less efficient some neuropsychological functions in children affected by dystrophinopathies. The wider multicentric study could help to better establish the role of cerebellar connectivity in neuropsychological profile for dystrophinopathies, identifying possible novel diagnostic and prognostic biomarkers.

Soundscape in Times of Change: Case Study of a City Neighbourhood During the COVID-19 Lockdown.

The coronavirus disease 2019 (COVID-19) lockdown meant a greatly reduced social and economic activity. Sound is of major importance to people's perception of the environment, and some remarked that the soundscape was changing for the better. But are these anecdotal reports based in truth? Has traffic noise from cars and airplanes really gone down, so that more birdsong can be heard? Have socially distanced people quietened down? This article presents a case study of the human perception of environmental sounds in an urban neighborhood in the Basque Country between 15 March and 25 May 2020. The social restrictions imposed through national legislation divided the 69-day period into three phases. We collected observations, field audio recordings, photography, and diary notes on 50 days. Experts in soundscape and architecture were presented with the recordings, in randomized order, and made two separate perceptual analyses. One group (N = 11) rated the recordings for pleasantness and eventfulness using an adapted version of the Swedish Soundscape Quality Protocol, and a partly overlapping group (N = 12) annotated perceived sound events with free-form semantic labels. The labels were systematically classified into a four-level Taxonomy of Sound Sources, allowing an estimation of the relative amounts of Natural, Human, and Technological sounds. Loudness and three descriptors developed for bioacoustics were extracted computationally. Analysis showed that Eventfulness, Acoustic Complexity, and Acoustic Richness increased significantly over the time period, while the amount of Technological sounds decreased. These observations were interpreted as reflecting changes in people's outdoor activities and behavior over the whole 69-day period, evidenced in an increased presence of Human sounds of voices and walking, and a significant shift from motorized vehicles toward personal mobility devices, again evidenced by perceived sounds. Quantitative results provided a backdrop against which qualitative analyses of diary notes and observations were interpreted in relation to the restrictions and the architectural specifics of the site. An integrated analysis of all sources pointed at the temporary suspension of human outdoor activity as the main reason for such a change. In the third phase, the progressive return of street life and the usage of personal mobility vehicles seemed to be responsible for a clear increase in Eventfulness and Loudness even in the context of an overall decrease of Technological sounds. Indoor human activity shared through open windows and an increased presence of birdsong emerge as a novel characteristic element of the local urban soundscape. We discuss how such changes in the acoustic environment of the site, in acoustic measurements and as perceived by humans, point toward the soundscape being a crucial component of a comprehensive urban design strategy that aims to improve health and quality of life for increasingly large and dense populations in the future.

Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.

INTRODUCTION: Since February 2020, the outbreak of COVID-19 in Italy has forced the health care system to undergo profound rearrangements in its services and facilities, especially in the worst-hit areas in Northern Italy. In this setting, inpatient and outpatient services had to rethink and reorganize their activities to meet the needs of patients during the "lockdown". The Italian Association of Myology developed a survey to estimate the impact of these changes on patients affected by neuromuscular disorders and on specialized neuromuscular centers during the acute phase of COVID-19 pandemic. METHODS: We developed an electronic survey that was sent to neuromuscular centers affiliated with the Italian Association of Myology, assessing changes in pharmacological therapies provision, outpatient clinical and instrumental services, support services (physiotherapy, nursing care, psychological support) and clinical trials. RESULTS: 40% of surveyed neuromuscular centers reported a reduction in outpatient visit and examinations (44.5% of centers in Northern regions; 25% of centers in Central regions; 50% of centers in Southern regions). Twenty-two% of centers postponed in-hospital administration of therapies for neuromuscular diseases (23.4% in Northern regions; 13.0% in Central regions; 20% in Southern regions). Diagnostic and support services (physiotherapy, nursing care, psychological support) were suspended in 57% of centers (66/43/44% in Northern, Central and Southern centers respectively) Overall, the most affected services were rehabilitative services and on-site outpatient visits, which were suspended in 93% of centers. Strategies adopted by neuromuscular centers to overcome these changes included maintaining urgent on-site visits, addressing patients to available services and promoting remote contact and telemedicine. CONCLUSIONS: Overall, COVID-19 pandemic resulted in a significant disruption of clinical and support services for patients with neuromuscular diseases. Despite the efforts to provide telemedicine consults to patients, this option could be promoted and improved further. A close collaboration between the different neuromuscular centers and service providers as well as further implementation of telehealth platforms are necessary to ensure quality care to NMD patients in the near future and in case of recurrent pandemic waves.

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.

OBJECTIVE: Next-generation sequencing (NGS) was applied in molecularly undiagnosed asymptomatic or paucisymptomatic hyperCKemia to investigate whether this technique might allow detection of the genetic basis of the condition. METHODS: Sixty-six patients with undiagnosed asymptomatic or paucisymptomatic hyperCKemia, referred to tertiary neuromuscular centers over an approximately 2-year period, were analyzed using a customized, targeted sequencing panel able to investigate the coding exons and flanking intronic regions of 78 genes associated with limb-girdle muscular dystrophies, rhabdomyolysis, and metabolic and distal myopathies. RESULTS: A molecular diagnosis was reached in 33 cases, corresponding to a positive diagnostic yield of 50%. Variants of unknown significance were found in 17 patients (26%), whereas 16 cases (24%) remained molecularly undefined. The major features of the diagnosed cases were mild proximal muscle weakness (found in 27%) and myalgia (in 24%). Fourteen patients with a molecular diagnosis and mild myopathic features on muscle biopsy remained asymptomatic at a 24-month follow-up. CONCLUSIONS: This study of patients with undiagnosed hyperCKemia, highlighting the advantages of NGS used as a first-tier diagnostic approach in genetically heterogeneous conditions, illustrates the ongoing evolution of molecular diagnosis in the field of clinical neurology. Isolated hyperCKemia can be the sole feature alerting to a progressive muscular disorder requiring careful surveillance.

Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?

This study aimed at comparing implicit sequence learning in individuals affected by Duchenne Muscular Dystrophy without intellectual disability and age-matched typically developing children. A modified version of the Serial Reaction Time task was administered to 32 Duchenne children and 37 controls of comparable chronological age. The Duchenne group showed a reduced rate of implicit learning even if in the absence of global intellectual disability. This finding provides further evidence of the involvement of specific aspects of cognitive function in Duchenne muscular dystrophy and on its possible neurobiological substrate.

Congenital myopathies: clinical phenotypes and new diagnostic tools.

Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis. We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histological and imaging diagnosis.

Learning disabilities in neuromuscular disorders: a springboard for adult life.

Although the presence of cognitive deficits in Duchenne muscular dystrophy or myotonic dystrophy DM1 is well established in view of brain-specific expression of affected muscle proteins, in other neuromuscular disorders, such as congenital myopathies and limb-girdle muscular dystrophies, cognitive profiles are poorly defined. Also, there are limited characterization of the cognitive profile of children with congenital muscular dystrophies, notwithstanding the presence of cerebral abnormality in some forms, and in spinal muscular atrophies, with the exception of distal spinal muscular atrophy (such as the DYN1CH1- associated form). Starting from the Duchenne muscular dystrophy, which may be considered a kind of paradigm for the co-occurrence of learning disabilities in the contest of a progressive muscular involvement, the findings of neuropsychological (or cognitive) dysfunctions in several forms of neuromuscular diseases will be examined and reviewed.