9 research outputs found

    TECNICHE DI RILIEVO DIGITALE IN GROTTA. L’ESEMPIO DELLE GROTTE “GRAVE DEL PULO” E “GROTTA MARIO” DEL PULO DI ALTAMURA

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    Il presente lavoro illustra alcune tecniche di rilievo in grotta e di analisi dati per la proiezione di mappe 2D georeferenziate e modelli 3D delle stesse. L’analisi dei dati e l’elaborazione dei rilievi è effettuata con l’ausilio di software specifici e open source. E’ presentato il rilievo di due cavità ipogee del Pulo di Altamura: Grotta del Pulo PU 1238 (Grotta Mario) e Grave del Pulo PU 860 (Inghiottitoio). La creazione di mappe 2D e modelli 3D risulta essere un utile strumento in campo speleologico, permettendo di acquisire una visione chiara della forma, dell’andamento, delle dimensioni e delle caratteristiche della cavità naturale senza dover necessariamente ricorre a tecniche complesse di rilievo (ad es. laserscanning o fotogrammetria digitale

    Innovative Pharmaceutical Techniques for Paediatric Dosage Forms: A Systematic Review on 3D Printing, Prilling/Vibration and Microfluidic Platform

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    : The production of paediatric pharmaceutical forms represents a unique challenge within the pharmaceutical industry. The primary goal of these formulations is to ensure therapeutic efficacy, safety, and tolerability in paediatric patients, who have specific physiological needs and characteristics. In recent years, there has been a significant increase in attention towards this area, driven by the need to improve drug administration to children and ensure optimal and specific treatments. Technological innovation has played a crucial role in meeting these requirements, opening new frontiers in the design and production of paediatric pharmaceutical forms. In particular, three emerging technologies have garnered considerable interest and attention within the scientific and industrial community: 3D printing, prilling/vibration, and microfluidics. These technologies offer advanced approaches for the design, production, and customization of paediatric pharmaceutical forms, allowing for more precise dosage modulation, improved solubility, and greater drug acceptability. In this review, we delve into these cutting-edge technologies and their impact on the production of paediatric pharmaceutical forms. We analyse their potential, associated challenges, and recent developments, providing a comprehensive overview of the opportunities that these innovative methodologies offer to the pharmaceutical sector. We examine different pharmaceutical forms generated using these techniques, evaluating their advantages and disadvantages

    A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.

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    Hereditary spastic paraplegia (HSP) refers to a group of neurodegenerative diseases characterized by progressive spasticity of the lower limbs \u2013 either in isolation (\u201cpure\u201d forms) or associated with an array of additional features (\u201ccomplicated\u201d forms) \u2013, and great genetic heterogeneity \u2013 sustained by the identification of > 35 loci, of which 15 have been described in autosomal dominant (AD) kindre

    Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population

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    Spastic paraplegia with thinning of the corpus callosum (ARHSP-TCC) is a relatively frequent form of complicated hereditary spastic paraplegia in which mental retardation and muscle stiffness at onset are followed by slowly progressive paraparesis and cognitive deterioration. Although genetically heterogeneous, ARHSP-TCC is frequently associated with mutations in the SPG11 gene, on chromosome 15q. However, it is becoming evident that ARHSP-TCC can also be the clinical presentation of mutations in ZFYVE26 (SPG15), as shown by the recent identification of eight families with a variable phenotype. Here, we present an additional Italian ARHSP-TCC patient harboring two new, probably loss-of-function mutations in ZFYVE26. This finding, together with the report of a mutation in another Italian family, provides confirmation that ZFYVE26 is the second gene responsible for ARHSP-TCC in the Italian population. (C) 2008 Published by Elsevier B.V

    Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.

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    We studied 20 Mediterranean families (40 patients) with autosomal recessive hereditary spastic paraplegia and thin corpus callosum (ARHSP-TCC, MIM 604360) to characterize their clinical and genetic features. In six families (17 patients) of Algerian Italian, Moroccan, and Portuguese ancestry, we found data consistent with linkage to the SPG11 locus on chromosome 15q13-15, whereas, in four families (nine patients of Italian, French, and Portuguese ancestry) linkage to the SPG11 locus could firmly be excluded, reinforcing the notion that ARHSP-TCC is genetically heterogeneous. Patients from linked and unlinked families could not be distinguished on the basis of clinical features alone. In SPG11-linked kindred, haplotype reconstruction allowed significant refinement to 6 cM, of the minimal chromosomal interval, but analysis of two genes (MAP1A and SEMA6D) in this region did not identify causative mutations. Our findings suggest that ARHSP-TCC is the most frequent form of ARHSP in Mediterranean countries and that it is particularly frequent in Italy
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