Optical remote sensing of lakes: an overview on Lake Maggiore

Optical satellite remote sensing represents an opportunity to integrate traditional methods for assessing water quality of lakes: strengths of remote sensing methods are the good spatial and temporal coverage, the possibility to monitor many lakes simultaneously and the reduced costs. In this work we present an overview of optical remote sensing techniques applied to lake water monitoring. Then, examples of applications focused on lake Maggiore, the second largest lake in Italy are discussed by presenting the temporal trend of chlorophyll-a (chl-a), suspended particulate matter (SPM), coloured dissolved organic matter (CDOM) and the z90 signal depth (the latter indicating the water depth from which 90% of the reflected light comes from) as estimated from the images acquired by the Medium Resolution Imaging Spectrometer (MERIS) in the pelagic area of the lake from 2003 to 2011. Concerning the chl-a trend, the results are in agreement with the concentration values measured during field surveys, confirming the good status of lake Maggiore, although occasional events of water deterioration were observed (e.g., an average increase of chl-a concentration, with a decrease of transparency, as a consequence of an anomalous phytoplankton occurred in summer 2011). A series of MERIS-derived maps (summer period 2011) of the z90 signal are also analysed in order to show the spatial variability of lake waters, which on average were clearer in the central pelagic zones. We expect that the recently launched (e.g., Landsat-8) and the future satellite missions (e.g., Sentinel-3) carrying sensors with improved spectral and spatial resolution are going to lead to a larger use of remote sensing for the assessment and monitoring of water quality parameters, by also allowing further applications (e.g., classification of phytoplankton functional types) to be developed

The endless quarantine: The impact of the COVID-19 outbreak on healthcare workers after three months of mandatory social isolation in Argentina

Objectives: At the end of 2019 the SARS-CoV-2 outbreak spread around the globe with a late arrival to South America. The objective of this study was to evaluate the impact of the long period of mandatory social isolation that took place in Argentina on the general psychological well-being of healthcare workers due to the COVID-19 pandemic.Methods: A survey was conducted during June 2020, in healthcare workers. Pittsburgh Sleep Quality Index, Insomnia Severity Index, Sleepiness-Wakefulness Inability and Fatigue Test, and Goldberg depression and anxiety scale, were used to analyze the effects of the SARS-Cov 2 outbreak after three months of mandatory social isolation. Analyses were performed by logistic regression and a clustering algorithm in order to classify subjects in the function of their outcome's severity.Results: From 1059 surveys, the majority reported symptoms of depression (81.0%), anxiety (76.5%), poor sleep quality (84.7%), and insomnia (73.7%) with 68.9% suffering from nightmares. Logistic regression showed that being in contact with COVID-19 patients, age, gender and the consumption of sleep medication during the mandatory social isolation were relevant predictors for insomnia, anxiety, and depression. Clustering analysis classified healthcare workers in three groups with healthy/mild, moderate, and severe outcomes. The most vulnerable group was composed mainly of younger people, female, non-medical staff, or physicians in training.Conclusion: An extremely high proportion of Argentinian healthcare workers suffered from sleep problems, anxiety, and depression symptoms. The clustering algorithm successfully separates vulnerable from non-vulnerable populations suggesting the need to carry out future studies involving resilience and vulnerability factors.Fil: Giardino, Daniela L.. Centro de Educaciones Médicas e Investigación Clínica "Norberto Quirno"; ArgentinaFil: Huck Iriart, Cristián. Universidad Nacional de San Martín. Escuela de Ciencia y Tecnología; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Riddick, Maximiliano Luis. Universidad Nacional de la Plata. Facultad de Cs.exactas. Centro de Matematica de la Plata.; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata; ArgentinaFil: Garay, Arturo. Centro de Educaciones Médicas e Investigación Clínica "Norberto Quirno"; Argentin

The rhythms of AMBEs (arousal-related motor behavioral episodes) in Agrypnia Excitata: a video motor analysis

In patients with Agrypnia Excitata with fatal familial insomnia (AE-FFI), oscillatory EEG rhythms appear during "pseudosleep" and during atypical REM sleep.Episodes of arousal-related motor behavioral episodes (AMBEs) with and without clearly elaborated behaviors, such as REM Behavior Disorder, constitute an intriguing finding without a known mechanism.Spinal cord involvement should be added to the manifestations of thalamo-limbic-brainstem disconnection. AMBEs can be incorporated into the context of motor abnormalities observed in FFI and other prionopathies.Fil: Garay, Arturo. Centro de Educaciones Médicas e Investigación Clínica "Norberto Quirno"; ArgentinaFil: Giardino, Daniela Laura. Centro de Educaciones Médicas e Investigación Clínica "Norberto Quirno"; ArgentinaFil: Huck Iriart, Cristián. Universidad Nacional de San Martín. Escuela de Ciencia y Tecnología; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Blanco, Susana Alicia Ana. Ministerio de Salud. Instituto Nacional del Cáncer; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Reder, Anthony T.. University of Chicago; Estados Unido

Genetic analysis of Italian patients with congenital tufting enteropathy

BACKGROUND: Congenital tufting enteropathy (CTE), an inherited autosomal recessive rare disease, is a severe diarrhea of infancy which is clinically characterized by absence of infl ammation and presence of intestinal villous atrophy. Mutations in the EpCAM gene were identified to cause CTE. Recent cases of syndromic tufting enteropathy harboring the SPINT2 (19q13.2) mutation were described. METHODS: Four CTE Italian patients were clinically and immunohistochemically characterized. Direct DNA sequencing of EpCAM and SPINT2 genes was performed. RESULTS: All patients were of Italian origin. Three different mutations were detected (p.Asp219Metfs*15, Tyr186Phefs*6 and p.Ile146Asn) in the EpCAM gene; one of them is novel (p.Ile146Asn). Two patients (P1 and P2) showed compound heterozygosity revealing two mutations in separate alleles. A third patient (P3) was heterozygous for only one novel EpCAM missense mutation (p.Ile146Asn). In a syndromic patient (P4), no deleterious EpCAM mutation was found. Additional SPINT2 mutational analysis was performed. P4 showed a homozygous SPINT2 mutation (p.Y163C). No SPINT2 mutation was found in P3. CLDN7 was also evaluated as a candidate gene by mutational screening in P3 but no mutation was identifi ed. CONCLUSIONS: This study presented a molecular characterization of CTE Italian patients, and identified three mutations in the EpCAM gene and one in the SPINT2 gene. One of EpCAM mutations was novel, therefore increasing the mutational spectrum of allelic variants of the EpCAM gene. Molecular analysis of the SPINT2 gene also allowed us to identify a SPINT2 substitution mutation (c.488A>G) recentl

Hyperspectral retrievals of phytoplankton absorption and chlorophyll-a in inland and nearshore coastal waters

Following more than two decades of research and developments made possible through various proof-of-concept hyperspectral remote sensing missions, it has been anticipated that hyperspectral imaging would enhance the accuracy of remotely sensed in-water products. This study investigates such expected improvements and demonstrates the utility of hyperspectral radiometric measurements for the retrieval of near-surface phytoplankton properties1, i.e., phytoplankton absorption spectra (aph) and biomass evaluated through examining the concentration of chlorophyll-a (Chla). Using hyperspectral data (409–800 nm at ~5 nm resolution) and a class of neural networks known as Mixture Density Networks (MDN) (Pahlevan et al., 2020), we show that the median error in aph retrievals is reduced two-to-three times (N = 722) compared to that from heritage ocean color algorithms. The median error associated with our aph retrieval across all the visible bands varies between 20 and 30%. Similarly, Chla retrievals exhibit significant improvements (i.e., more than two times; N = 1902), with respect to existing algorithms that rely on select spectral bands. Using an independent matchup dataset acquired near-concurrently with the acquisition of the Hyperspectral Imager for the Coastal Ocean (HICO) images, the models are found to perform well, but at reduced levels due to uncertainties in the atmospheric correction. The mapped spatial distribution of Chla maps and aph spectra for selected HICO swaths further solidify MDNs as promising machine-learning models that have the potential to generate highly accurate aquatic remote sensing products in inland and coastal waters. For aph retrieval to improve further, two immediate research avenues are recommended: a) the network architecture requires additional optimization to enable a simultaneous retrieval of multiple in-water parameters (e.g., aph, Chla, absorption by colored dissolved organic matter), and b) the training dataset should be extended to enhance model generalizability. This feasibility analysis using MDNs provides strong evidence that high-quality, global hyperspectral data will open new pathways toward a better understanding of biodiversity in aquatic ecosystems

Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

<p>Abstract</p> <p>Background</p> <p>Mosaic Chromosome 20 ring [r(20)] is a chromosomal disorder associated with a rare syndrome characterized by a typical seizure phenotype, a particular electroclinical pattern, cognitive impairment, behavioural problems and absence of a consistent pattern of dysmorphology. The pathogenic mechanism underlying seizures disorders in r(20) syndrome is still unknown. We performed a detailed clinical and genetic study on 8 patients with r(20) chromosome, aimed at detecting the genetic mechanism underlying r(20) syndrome.</p> <p>Methods</p> <p>We submitted 8 subjects with a previous diagnosis of ring 20 chromosome mosaicism to a clinical re-evaluation, followed by cytogenetic, FISH, array-CGH and molecular analyses. The genetic study was also extended to their available parents.</p> <p>Results</p> <p>FISH and array-CGH experiments indicate that cryptic deletions on chromosome 20 are not the cause of the r(20) chromosome associated disease. Moreover, no evidence of chromosome 20 uniparental disomy was found. Analysis of FISH signals given by variant in size alphoid tandem repeats probes on the normal chromosome 20 and the r(20) chromosome in the mosaic carriers suggests that the r(20) chromosome is the same chromosome not circularized in the "normal" cell line.</p> <p>Conclusions</p> <p>Higher percentages of r(20) chromosome cells were observed to be related with precocious age at seizure onset and with resistance to antiepileptic drug treatment. Behavioural problems also seem to be associated with higher percentages of r(20) chromosome cells. Our results suggest that an epigenetic mechanism perturbing the expression of genes close to the telomeric regions, rather than deletion of genes located at the distal 20p and/or 20q regions, may underlie the manifestation of r(20) syndrome.</p

GLORIA - A globally representative hyperspectral in situ dataset for optical sensing of water quality

The development of algorithms for remote sensing of water quality (RSWQ) requires a large amount of in situ data to account for the bio-geo-optical diversity of inland and coastal waters. The GLObal Reflectance community dataset for Imaging and optical sensing of Aquatic environments (GLORIA) includes 7,572 curated hyperspectral remote sensing reflectance measurements at 1 nm intervals within the 350 to 900 nm wavelength range. In addition, at least one co-located water quality measurement of chlorophyll a, total suspended solids, absorption by dissolved substances, and Secchi depth, is provided. The data were contributed by researchers affiliated with 59 institutions worldwide and come from 450 different water bodies, making GLORIA the de-facto state of knowledge of in situ coastal and inland aquatic optical diversity. Each measurement is documented with comprehensive methodological details, allowing users to evaluate fitness-for-purpose, and providing a reference for practitioners planning similar measurements. We provide open and free access to this dataset with the goal of enabling scientific and technological advancement towards operational regional and global RSWQ monitoring

The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria

Background. Italian External Quality Assessment (IEQA) Program in Cytogenetics, established in 2001 by the Istituto Superiore di Sanità (ISS), covers both Constitutional and Oncohaematological diagnosis. In 2013, performance criteria were defined and adopted. In this paper, we present the data from the first 4 years of activity (2013-2016) following the introduction of performance criteria. Methods. The enrollment is voluntary, fee-based and open to both public and private Italian laboratories. The scheme is annual and retrospective; a national panel of experts assess technical, analytical and interpretative performance. Results. Overall, 95 distinct Italian laboratories participated in different Cytogenetics IEQA schemes over the 2013-2016 years and most of the laboratories took part in Constitutional diagnosis. General hospitals and local health centers represented 40% of the total participants and the percentage of laboratories from Northern Regions was more than 45% of total participants throughout the 4-year period. As regards the performance evaluation, on average, 11, 9 and 23% of participants were marked as poor performers in Prenatal, Postnatal and Oncohaematological schemes, respectively. With regard to critical errors, ISCN nomenclature in Prenatal and Postnatal schemes, and interpretation in Oncohaematological diagnosis, were identified as main issues. On the other hand, karyotype errors and inadequate analysis decreased strongly, over the 4 years, in Constitutional and Oncohaematological diagnosis, respectively. Conclusions. Our data show that the introduction of poor performance encourages laboratories to address critical issues, and the IEQA participation helps to improve quality in cytogenetic testing. 

Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features

Pendred syndrome (PS) is an autosomal recessive disorder due to mutations in the SLC26A4 gene (chr7q22. 3) and characterized by sensorineural hearing loss and variable thyroid phenotype. Silver-Russell syndrome (SRS) is a heterogeneous imprinting disorder including severe intrauterine and postnatal growth retardation, and dysmorphic features. Maternal uniparental disomy of either the whole chromosome 7 (upd(7)mat) or 7q (upd(7q)mat) is one of the multiple mechanisms impacting the expression of imprinted genes in SRS, and is associated with milder clinical features. Here, we report genetic and clinical characterization of a female child with PS, postnatal growth retardation, and minor dysmorphic features. A gross homozygous deletion of SLC26A4 exons 17-20 was suspected by Sanger sequencing and then confirmed by array-CGH. Moreover, an insertion of about 1 kb of the CCDC126 gene (7p15.3), which does not appear to be clinically relevant, was detected. The possible occurrence of a balanced rearrangement between 7p and 7q was excluded. The absence of the deletion in the father led to the investigation of upd, and microsatellite segregation analysis revealed a segmental 7q (upd(7q)mat), leading to SLC26A4 homozygosity and responsible for both PS and SRS-like traits. The proband matched 3 out of 6 major SRS criteria. In conclusion, this is the first report of uniparental isodisomy encompassing almost the whole long arm of chromosome 7 resulting in PS and SRS-like features. Whereas, the inner ear phenotype of PS is typical, the clinical features suggestive of SRS might have been overlooked