1,413 research outputs found
Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports.
Pigmentary mosaicism of the (hypomelanosis of) Ito type is an umbrella term, which includes phenotypes characterized by mosaic hypopigmentation in the form of streaks, whorls, patchy, or more bizarre skin configurations (running along the lines of Blaschko): these cutaneous patterns can manifest as an isolated skin disorder (pigmentary mosaicism of the Ito type) or as a complex malformation syndrome in association with extracutaneous anomalies (most often of the musculoskeletal and/or nervous systems) (hypomelanosis of Ito). Affected individuals are anecdotally reported to have also partial or total body hemi-overgrowth (HOG), which often causes moderate to severe complications.We studied the occurrence and features of HOG in the 114 children and adults with mosaic pigmentary disorders of the Ito type diagnosed and followed up (from 2 to 22 years; average follow-up 16 years) at our Institutions.Eight patients (5 M, 3 F; aged 4 to 25 years; median age 16 years) out of the 114 analyzed (7%) fulfilled the criteria for unilateral HOG, with differences in diameter ranging from 0.4 to 4.0 cm (upper limbs) and 1.0 to 9.0 cm (lower limbs). Moreover, among these 8 patients, 5/8 filled in the 75th to 90th percentile for height; 6/8 had associated kyphoscoliosis; and 5/8 showed cognitive delays. No tumour complications were recorded. Overall, 6/8 HOG patients presented with additional (extracutaneous) syndromic manifestations, apart from the HOG (ie, with a clinical phenotype of hypomelanosis of Ito).The present study, which includes children and adults with the longest follow-up so far recorded, confirms the association between pigmentary mosaicism of the Ito type and HOG lowering previous estimates (7% vs 16%) for HOG in the context of mosaic hypopigmentation. A careful examination, looking at subtle to moderate asymmetries and associated complications within the spectrum of these mosaic pigmentary disorders, is recommended
Documentare e comunicare l'attivitĂ di trasferimento tecnologico. Analisi testuale della comunicazione dei poli di innovazione
There is an increasing attention on the needs to support SMEs in enhancing their innovation opportunities and capabilities. Through a policy measure to foster the regional innovation system, 12 innovation poles were active in Tuscany in the period 2011-2014 to provide to their members (affiliation is needed) a range of knowledge-intensive services such as knowledge and technology mapping, R&D partnership formation, technical assistance in R&D projects, technology transfer. Each pole was created as a consortium of organizations operating as public or private research centres and service centres (universities, innovation centres or technology transfer centres and firms).
In this paper we adopt a statistical analysis of textual content produced by the innovation poles to identify distinctive or common elements in the various texts they produced in three years of activity and to draw some assessment of their communication on their activities. Documents under analysis are of different types: designed as written texts (on Smart Specialization Strategy and monitoring the activities of the poles), transcripts of spoken language (the recordings of interviews); web communication. Through and automatic analysis we propose a systematic comparison of all these documents that would not be possible through direct reading of texts: on the whole it is over 56,000 graphic forms, for a total of over two million occurrences. To compare both the intra diversity across the same type of document and across the different types of documents, first we analyse each of the four body separately, in order to identify the specific content and the four languages used by the poles of innovation: "report", texts structured in the format
of the monitoring; "design", the documents on smart specialization strategy; "reflection and analysis", in the transcription of interviews; and "communication", that characterizes the web sites. For this analysis, each document is associated with one or more categories (such as, for example, pole' band category, date of the document) that allow us to group or isolate relevant content in different contexts.
In this work we first introduce the set of processing of texts aimed at the selection of graphic forms on which we focus our analysis. Then, we present for each corpus the description of the analysed documents, the results of calculations performed for the treatment of the text and the analysis of the main components that explain the variability of language within each corpus. These analyses (represented by the factorial of two main components) interpret the selection of graphic forms being analysed with respect to categorical variables, defined for each document in each of the corpora.
The analysis concludes with some ideas for the modelling of regional system of innovation clusters in Tuscany
An Asymptotically-Optimal Sampling-Based Algorithm for Bi-directional Motion Planning
Bi-directional search is a widely used strategy to increase the success and
convergence rates of sampling-based motion planning algorithms. Yet, few
results are available that merge both bi-directional search and asymptotic
optimality into existing optimal planners, such as PRM*, RRT*, and FMT*. The
objective of this paper is to fill this gap. Specifically, this paper presents
a bi-directional, sampling-based, asymptotically-optimal algorithm named
Bi-directional FMT* (BFMT*) that extends the Fast Marching Tree (FMT*)
algorithm to bi-directional search while preserving its key properties, chiefly
lazy search and asymptotic optimality through convergence in probability. BFMT*
performs a two-source, lazy dynamic programming recursion over a set of
randomly-drawn samples, correspondingly generating two search trees: one in
cost-to-come space from the initial configuration and another in cost-to-go
space from the goal configuration. Numerical experiments illustrate the
advantages of BFMT* over its unidirectional counterpart, as well as a number of
other state-of-the-art planners.Comment: Accepted to the 2015 IEEE Intelligent Robotics and Systems Conference
in Hamburg, Germany. This submission represents the long version of the
conference manuscript, with additional proof details (Section IV) regarding
the asymptotic optimality of the BFMT* algorith
Documentare e comunicare l'attivitĂ di trasferimento tecnologico. Analisi testuale della comunicazione dei poli di innovazione
There is an increasing attention on the needs to support SMEs in enhancing their innovation op-portunities and capabilities. Through a policy measure to foster the regional innovation system, 12 innovation poles were active in Tuscany in the period 2011-2014 to provide to their members (af-filiation is needed) a range of knowledge-intensive services such as knowledge and technology mapping, R&D partnership formation, technical assistance in R&D projects, technology transfer. Each pole was created as a consortium of organizations operating as public or private research cen-tres and service centres (universities, innovation centres or technology transfer centres and firms).
In this paper we adopt a statistical analysis of textual content produced by the innovation poles to identify distinctive or common elements in the various texts they produced in three years of activi-ty and to draw some assessment of their communication on their activities.
Documents under analysis are of different types: designed as written texts (on Smart Specializa-tion Strategy and monitoring the activities of the poles), transcripts of spoken language (the re-cordings of interviews); web communication. Through and automatic analysis we propose a sys-tematic comparison of all these documents that would not be possible through direct reading of texts: on the whole it is over 56,000 graphic forms, for a total of over two million occurrences. To compare both the intra diversity across the same type of document and across the different types of documents, first we analyse each of the four body separately, in order to identify the specific con-tent and the four languages used by the poles of innovation: "report", texts structured in the format of the monitoring; "design", the documents on smart specialization strategy; "reflection and analy-sis", in the transcription of interviews; and "communication", that characterizes the web sites. For this analysis, each document is associated with one or more categories (such as, for example, pole' band category, date of the document) that allow us to group or isolate relevant content in different contexts.
In this work we first introduce the set of processing of texts aimed at the selection of graphic forms on which we focus our analysis. Then, we present for each corpus the description of the analysed documents, the results of calculations performed for the treatment of the text and the analysis of the main components that explain the variability of language within each corpus. These analyses (represented by the factorial of two main components) interpret the selection of graphic forms be-ing analysed with respect to categorical variables, defined for each document in each of the corpo-ra. The analysis concludes with some ideas for the modelling of regional system of innovation clusters in Tuscany
New Aloes casual aliens in Sicily
Aloë arborescens, A. brachystachys and A. maculata (Asphodelaceae) are reported for the first time as casual aliens in Sicily. A. brachystachys is new also for the alien flora of Italy
Accurate First-Principle Prediction of 29Si and 17O NMR Parameters in SiO2 Polymorphs: The Cases of Zeolites Sigma-2 and Ferrierite
Abstract: The magnetic shielding tensors of silica polymorphs have been investigated by meansof quantum chemical calculations. Several levels of theory, from Hartree-Fock to the lastgeneration of Density Functional Theory based approaches, have been tested on predicting29Si and 17O isotropic and principal components of the chemical shift tensors together with 17Oquadrupolar coupling constants. The NMR parameters have been computed on all known silicasystems, namely, R-quartz, R-cristobalite, coesite, Sigma-2, and ferrierite zeolites. Besides, clusterbased approaches have been compared to a hybrid Quantum-Mechanics/Molecular-Mechanics(QM/MM) method, within the ONIOM scheme. The convergence of computed 17O NMRparameters with respect to cluster size is found to be system-dependent. Excellent agreementbetween computed and experimental data has been found for 29Si NMR parameters of thedifferent Si sites of silica polymorphs and of Sigma-2 and ferrierite zeolites
Embriogenesi e malformazioni dell’apparato urinario e genitale maschile
Non previsto perché trattasi di capitolo di libr
Use of an artificial miniaturized enzyme in hydrogen peroxide detection by chemiluminescence
Advanced oxidation processes represent a viable alternative in water reclamation for potable reuse. Sensing methods of hydrogen peroxide are, therefore, needed to test both process progress and final quality of the produced water. Several bio-based assays have been developed so far, mainly relying on peroxidase enzymes, which have the advantage of being fast, efficient, reusable, and environmentally safe. However, their production/purification and, most of all, batch-to-batch consistency may inherently prevent their standardization. Here, we provide evidence that a synthetic de novo miniaturized designed heme-enzyme, namely Mimochrome VI*a, can be proficiently used in hydrogen peroxide assays. Furthermore, a fast and automated assay has been developed by using a lab-bench microplate reader. Under the best working conditions, the assay showed a linear response in the 10.0–120 µM range, together with a second linearity range between 120 and 500 µM for higher hydrogen peroxide concentrations. The detection limit was 4.6 µM and quantitation limits for the two datasets were 15.5 and 186 µM, respectively. In perspective, Mimochrome VI*a could be used as an active biological sensing unit in different sensor configurations
The "journal of functional morphology and kinesiology" journal club series: Highlights of recent papers in pediatric exercise
We are glad to introduce the ninth Journal Club. This edition is focused on several relevant studies published in the last years in the field of Pediatric Exercise, chosen by our Editorial Board members and their colleagues. We hope to stimulate your curiosity in this field and to share with you the passion for the sport as seen also from the scientific point of view. The Editorial Board members wish you an inspiring lecture
Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis-Literature Review
: Charcot- Marie- Tooth (CMT) disease includes a group of clinically and genetically heterogeneous neuropathic disorders with an estimated frequency of 1 on 2.500 individuals. CMTs are differently classified according to the age of onset, type of inheritance, and type of inheritance plus clinical features. For these disorders, more than 100 genes have been implicated as causal factors, with mutations in the PMP22 being one of the most common. The demyelinating type (CMT1) affects more than 30% of the CMTs patients and manifests with motor and sensory dysfunctions of the peripheral nervous system mainly starting with slow progressive weakness of the lower extremities. We report here a 12 year- old boy presenting with typical features of CMT1 type, hearing impairment, and inguinal hernia who at the next-generation sequence analysis displayed a concomitant presence of two variants: the c.233 C>T p.Ser 78Leu of the MPZ gene (NM_000530.6) characterized as pathogenetic and the c.1403 G>A p.Arg 468His of the MFN2 gene (NM_014874.3) characterized as VUS. Concomitant variant mutations in CMTs have been uncommonly reported. The role of these gene mutations on the clinical expression and a literature review on this topic is discussed
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